-
2
-
-
0000923063
-
Multicompartmental analysis of calcium kinetics in normal adult males
-
Neer R., Berman M., Fisher L., Rosenberg L.E. Multicompartmental analysis of calcium kinetics in normal adult males. J Clin Invest 1967, 46:1364-1379.
-
(1967)
J Clin Invest
, vol.46
, pp. 1364-1379
-
-
Neer, R.1
Berman, M.2
Fisher, L.3
Rosenberg, L.E.4
-
3
-
-
0002337340
-
Organization and structure of bone and the mechanism of calcification
-
Academic Press, New York, B. Part, B.S. Gould, G.N. Ramachandran (Eds.)
-
Glimcher M.K., Krane S.M. Organization and structure of bone and the mechanism of calcification. Treatise on collagen 1968, 68-241. Academic Press, New York. B. Part, B.S. Gould, G.N. Ramachandran (Eds.).
-
(1968)
Treatise on collagen
, pp. 68-241
-
-
Glimcher, M.K.1
Krane, S.M.2
-
5
-
-
0022907645
-
Measurement of ionized calcium in serum with ion-selective electrodes: A mature technology that can meet the daily service needs
-
Bowers G.N., Brassard C., Sena S.F. Measurement of ionized calcium in serum with ion-selective electrodes: A mature technology that can meet the daily service needs. Clin Chem 1986, 32:1437-1447.
-
(1986)
Clin Chem
, vol.32
, pp. 1437-1447
-
-
Bowers, G.N.1
Brassard, C.2
Sena, S.F.3
-
6
-
-
84878851159
-
Investigating hypocalcaemia
-
f2213
-
Hannan F.M., Thakker R.V. Investigating hypocalcaemia. BMJ 2013, 346. f2213.
-
(2013)
BMJ
, vol.346
-
-
Hannan, F.M.1
Thakker, R.V.2
-
7
-
-
0020026372
-
Bone mineral homeostasis, bone growth, and mineralization during years of pubertal growth: A unifying concept
-
Krabbe S., Transbol I., Christiansen C. Bone mineral homeostasis, bone growth, and mineralization during years of pubertal growth: A unifying concept. Arch Dis Child 1982, 57:359-363.
-
(1982)
Arch Dis Child
, vol.57
, pp. 359-363
-
-
Krabbe, S.1
Transbol, I.2
Christiansen, C.3
-
8
-
-
0018348169
-
Calcium metabolism in normal pregnancy: A longitudinal study
-
Pitkin R.M., Reynolds W.A., et al. Calcium metabolism in normal pregnancy: A longitudinal study. Am J Obstet 1979, 133:781-790.
-
(1979)
Am J Obstet
, vol.133
, pp. 781-790
-
-
Pitkin, R.M.1
Reynolds, W.A.2
-
9
-
-
0022498731
-
Pregnancy as a state of physiologic absorptive hypercalcemia
-
Gertner J.M., Coustan O.R., Kliger A.S., et al. Pregnancy as a state of physiologic absorptive hypercalcemia. Am J Med 1986, 81:451-456.
-
(1986)
Am J Med
, vol.81
, pp. 451-456
-
-
Gertner, J.M.1
Coustan, O.R.2
Kliger, A.S.3
-
10
-
-
0031471679
-
Maternal-fetal calcium and bone metabolism during pregnancy, puerperium, and lactation
-
Kovacs C.S., Kronenberg H.M. Maternal-fetal calcium and bone metabolism during pregnancy, puerperium, and lactation. Endocr Rev 1997, 18:832-872.
-
(1997)
Endocr Rev
, vol.18
, pp. 832-872
-
-
Kovacs, C.S.1
Kronenberg, H.M.2
-
11
-
-
0016966045
-
Calcium accumulation by the human fetus
-
Forbes G.B. Calcium accumulation by the human fetus. Pediatrics 1976, 57:976-977.
-
(1976)
Pediatrics
, vol.57
, pp. 976-977
-
-
Forbes, G.B.1
-
12
-
-
0018935094
-
Fetal calciotropic hormones and neonatal calcium homeostasis
-
Pitkin R.M., Cruikshank D.P., Schauberger C.W., et al. Fetal calciotropic hormones and neonatal calcium homeostasis. Pediatrics 1980, 66:77-82.
-
(1980)
Pediatrics
, vol.66
, pp. 77-82
-
-
Pitkin, R.M.1
Cruikshank, D.P.2
Schauberger, C.W.3
-
13
-
-
0019350814
-
Control of mineral homeostasis during lactation: interrelationships of 25-hydroxyvitamin D, 24,25-dihydroxyvitamin D, 1,25-dihydroxyvitamin, parathyroid hormone, calcitonin, prolactin, and estradiol
-
Hillman L., Sateesha S., Haussler M., et al. Control of mineral homeostasis during lactation: interrelationships of 25-hydroxyvitamin D, 24,25-dihydroxyvitamin D, 1,25-dihydroxyvitamin, parathyroid hormone, calcitonin, prolactin, and estradiol. Am J Obstet Gynecol 1981, 139:471-476.
-
(1981)
Am J Obstet Gynecol
, vol.139
, pp. 471-476
-
-
Hillman, L.1
Sateesha, S.2
Haussler, M.3
-
14
-
-
0020264190
-
Mineral homeostasis during lactation-relationship to serum 1,25-dihydroxyvitamin D, 25-hydroxyvitamin D, parathyroid hormone, and calcitonin
-
Greer F.R., Tasang R.C., Searcy J.E., et al. Mineral homeostasis during lactation-relationship to serum 1,25-dihydroxyvitamin D, 25-hydroxyvitamin D, parathyroid hormone, and calcitonin. Am J Clin Nutr 1982, 36:431-437.
-
(1982)
Am J Clin Nutr
, vol.36
, pp. 431-437
-
-
Greer, F.R.1
Tasang, R.C.2
Searcy, J.E.3
-
15
-
-
0033555775
-
2+ signalling requirements
-
2+ signalling requirements. Biochem J 1999, 337:153-169.
-
(1999)
Biochem J
, vol.337
, pp. 153-169
-
-
Barritt, G.J.1
-
16
-
-
0030932943
-
Elementary and global aspects of calcium signaling
-
Berridge M.J. Elementary and global aspects of calcium signaling. J Physiol 1997, 499:291-306.
-
(1997)
J Physiol
, vol.499
, pp. 291-306
-
-
Berridge, M.J.1
-
17
-
-
0023069451
-
Intracellular calcium homeostasis
-
Carafoli E. Intracellular calcium homeostasis. Ann Rev Biochem 1987, 56:395-433.
-
(1987)
Ann Rev Biochem
, vol.56
, pp. 395-433
-
-
Carafoli, E.1
-
18
-
-
0021258854
-
Calcium messenger system: An integrated view
-
Rasmussen H., Barrett P.Q. Calcium messenger system: An integrated view. Physiol Rev 1984, 64:938-984.
-
(1984)
Physiol Rev
, vol.64
, pp. 938-984
-
-
Rasmussen, H.1
Barrett, P.Q.2
-
19
-
-
0031978982
-
The extracellular calcium-sensing receptor: its role in health and disease
-
Brown E., Pollack A., Hebert S. The extracellular calcium-sensing receptor: its role in health and disease. Ann Rev Med 1998, 49:15-29.
-
(1998)
Ann Rev Med
, vol.49
, pp. 15-29
-
-
Brown, E.1
Pollack, A.2
Hebert, S.3
-
20
-
-
0022634281
-
The calcium messenger system
-
Rasmussen H. The calcium messenger system. N Engl J Med 1986, 314:1094-1101.
-
(1986)
N Engl J Med
, vol.314
, pp. 1094-1101
-
-
Rasmussen, H.1
-
22
-
-
0020121265
-
Calcium bioavailability and absorption: A review
-
Allen L.H. Calcium bioavailability and absorption: A review. Am J Clin Nutr 1982, 35:783-808.
-
(1982)
Am J Clin Nutr
, vol.35
, pp. 783-808
-
-
Allen, L.H.1
-
23
-
-
0013834861
-
Influence of aging on the intestinal absorption of 47-Ca in women and its relation to 47-Ca absorption in postmenopausal osteoporosis
-
Avioli L.V., McDonald J.E., Lee S.W. Influence of aging on the intestinal absorption of 47-Ca in women and its relation to 47-Ca absorption in postmenopausal osteoporosis. J Clin Invest 1965, 44:1960-1967.
-
(1965)
J Clin Invest
, vol.44
, pp. 1960-1967
-
-
Avioli, L.V.1
McDonald, J.E.2
Lee, S.W.3
-
24
-
-
0015822274
-
Effect of dietary calcium and age on jejunal calcium absorption in humans studied by intestinal perfusion
-
Ireland P., Fordtran J.S. Effect of dietary calcium and age on jejunal calcium absorption in humans studied by intestinal perfusion. J Clin Invest 1973, 52:2672-2681.
-
(1973)
J Clin Invest
, vol.52
, pp. 2672-2681
-
-
Ireland, P.1
Fordtran, J.S.2
-
25
-
-
0018672328
-
Intestinal calcium absorption and serum vitamin D metabolites in normal subjects and osteoporotic patients
-
Gallagher J.C., Riggs B.L., Eisman J., et al. Intestinal calcium absorption and serum vitamin D metabolites in normal subjects and osteoporotic patients. J Clin Invest 1979, 64:729-736.
-
(1979)
J Clin Invest
, vol.64
, pp. 729-736
-
-
Gallagher, J.C.1
Riggs, B.L.2
Eisman, J.3
-
26
-
-
0344325850
-
Secretion and excretion of calcium by the human gastrointestinal tract
-
Heaney R.P., Skillman T.G. Secretion and excretion of calcium by the human gastrointestinal tract. J Lab Clin Med 1964, 64:29-41.
-
(1964)
J Lab Clin Med
, vol.64
, pp. 29-41
-
-
Heaney, R.P.1
Skillman, T.G.2
-
27
-
-
78651167647
-
Isotopic method for measurement of calcium absorption from the gastrointestinal tract
-
Rose G.A., Reed G.W., Smith A.H. Isotopic method for measurement of calcium absorption from the gastrointestinal tract. Br Med J 1965, 1:690-692.
-
(1965)
Br Med J
, vol.1
, pp. 690-692
-
-
Rose, G.A.1
Reed, G.W.2
Smith, A.H.3
-
28
-
-
0014447780
-
Dietary perturbation of calcium metabolism in normal man: Compartmental analysis
-
Phang J., Berman M., Finerman G. Dietary perturbation of calcium metabolism in normal man: Compartmental analysis. J Clin Invest 1969, 48:67-77.
-
(1969)
J Clin Invest
, vol.48
, pp. 67-77
-
-
Phang, J.1
Berman, M.2
Finerman, G.3
-
29
-
-
0018141958
-
Critical analysis of methods of analyzing human calcium kinetics
-
Jung A., Bartholdi P., Mermillod B. Critical analysis of methods of analyzing human calcium kinetics. J Theoret Biol 1978, 73:131-157.
-
(1978)
J Theoret Biol
, vol.73
, pp. 131-157
-
-
Jung, A.1
Bartholdi, P.2
Mermillod, B.3
-
30
-
-
0013932518
-
Ionic constituents and osmolality of gastric and small-intestinal fluids after eating
-
Fordtran J.S., Locklear T.W. Ionic constituents and osmolality of gastric and small-intestinal fluids after eating. Am J Dig Dis 1966, 11:3-521.
-
(1966)
Am J Dig Dis
, vol.11
, pp. 3-521
-
-
Fordtran, J.S.1
Locklear, T.W.2
-
31
-
-
0022532771
-
An analysis of intestinal calcium transport across the rat intestine
-
Bronner F., Pansu D., Stein W.D. An analysis of intestinal calcium transport across the rat intestine. Am J Physiol 1986, 250:G561-G569.
-
(1986)
Am J Physiol
, vol.250
, pp. G561-G569
-
-
Bronner, F.1
Pansu, D.2
Stein, W.D.3
-
32
-
-
0001145555
-
85 from solid and liquid food at various levels of the alimentary tract of the rat
-
85 from solid and liquid food at various levels of the alimentary tract of the rat. J Nutr 1962, 77:155-160.
-
(1962)
J Nutr
, vol.77
, pp. 155-160
-
-
Marcus, C.S.1
Lengemann, F.W.2
-
33
-
-
0014572827
-
Study of calcium absorption in man: A kinetic analysis and physiologic model
-
Birge J., Peck W.A., Berman M., Whedon D.G. Study of calcium absorption in man: A kinetic analysis and physiologic model. J Clin Invest 1969, 48:1705-1713.
-
(1969)
J Clin Invest
, vol.48
, pp. 1705-1713
-
-
Birge, J.1
Peck, W.A.2
Berman, M.3
Whedon, D.G.4
-
34
-
-
0016132253
-
Calcium absorption and bone mineral content following intestinal shunt operations for obesity: A comparison of three types of procedures
-
Dano P., Christiansen C. Calcium absorption and bone mineral content following intestinal shunt operations for obesity: A comparison of three types of procedures. Scand J Gastroenterol 1974, 9:775-779.
-
(1974)
Scand J Gastroenterol
, vol.9
, pp. 775-779
-
-
Dano, P.1
Christiansen, C.2
-
36
-
-
0033529713
-
Molecular cloning and characterization of a channel-like transporter mediating intestinal calcium absorption
-
Peng J.B., Chen X.Z., Berger U.V., Vassilev P.M., et al. Molecular cloning and characterization of a channel-like transporter mediating intestinal calcium absorption. J Biol Chem 1999, 274:22739-22746.
-
(1999)
J Biol Chem
, vol.274
, pp. 22739-22746
-
-
Peng, J.B.1
Chen, X.Z.2
Berger, U.V.3
Vassilev, P.M.4
-
37
-
-
0035862194
-
Pore properties and ionic block of the rabbit epithelial calcium channel expressed in HEK 293 cells
-
Vennekens R., Prenen J., Hoenderop J.G., et al. Pore properties and ionic block of the rabbit epithelial calcium channel expressed in HEK 293 cells. J Physiol 2001, 530:183-191.
-
(2001)
J Physiol
, vol.530
, pp. 183-191
-
-
Vennekens, R.1
Prenen, J.2
Hoenderop, J.G.3
-
38
-
-
0036535063
-
The diversity in the vanilloid (TRPV) receptor family of ion channels
-
Gunthorpe M.J., Benham C.D., Randall A., Davis J.B. The diversity in the vanilloid (TRPV) receptor family of ion channels. Trends Pharmacol Sci 2002, 23:183-191.
-
(2002)
Trends Pharmacol Sci
, vol.23
, pp. 183-191
-
-
Gunthorpe, M.J.1
Benham, C.D.2
Randall, A.3
Davis, J.B.4
-
40
-
-
0037974416
-
The epithelial calcium channels, TRPV5 & TRPV6: from identification towards regulation
-
den Dekker E., Hoenderop J.G., Nilius B., Bindels R.J. The epithelial calcium channels, TRPV5 & TRPV6: from identification towards regulation. Cell Calcium 2003, 33:497-507.
-
(2003)
Cell Calcium
, vol.33
, pp. 497-507
-
-
den Dekker, E.1
Hoenderop, J.G.2
Nilius, B.3
Bindels, R.J.4
-
41
-
-
0036903548
-
Calcium-selective ion channel, CaT1, is apically localized in gastrointestinal tract epithelia and is aberrantly expressed in human malignancies
-
Zhuang L., Peng J.B., Tou L., et al. Calcium-selective ion channel, CaT1, is apically localized in gastrointestinal tract epithelia and is aberrantly expressed in human malignancies. Lab Invest 2002, 82:1755-1764.
-
(2002)
Lab Invest
, vol.82
, pp. 1755-1764
-
-
Zhuang, L.1
Peng, J.B.2
Tou, L.3
-
42
-
-
3042807960
-
1,25-Dihydroxyvitamin D3 increases the expression of the CaT1 epithelial calcium channel in the Caco-2 human intestinal cell line
-
Wood R.J., Tchack L., Taparia S. 1,25-Dihydroxyvitamin D3 increases the expression of the CaT1 epithelial calcium channel in the Caco-2 human intestinal cell line. BMC Physiol 2001, 1:11.
-
(2001)
BMC Physiol
, vol.1
, pp. 11
-
-
Wood, R.J.1
Tchack, L.2
Taparia, S.3
-
43
-
-
0035818538
-
Duodenal calcium absorption in vitamin D receptor-knockout mice: functional and molecular aspects
-
Van Cromphaut S.J., Dewerchin M., Hoenderop J.G., et al. Duodenal calcium absorption in vitamin D receptor-knockout mice: functional and molecular aspects. Proc Natl Acad Sci U S A 2001, 98:13324-13329.
-
(2001)
Proc Natl Acad Sci U S A
, vol.98
, pp. 13324-13329
-
-
Van Cromphaut, S.J.1
Dewerchin, M.2
Hoenderop, J.G.3
-
44
-
-
0037312599
-
Vitamin D receptor (VDR) knockout mice reveal VDR-independent regulation of intestinal calcium absorption and ECaC2 and calbindin D9k mRNA
-
Song Y., Kato S., Fleet J.C. Vitamin D receptor (VDR) knockout mice reveal VDR-independent regulation of intestinal calcium absorption and ECaC2 and calbindin D9k mRNA. J Nutr 2003, 133:374-380.
-
(2003)
J Nutr
, vol.133
, pp. 374-380
-
-
Song, Y.1
Kato, S.2
Fleet, J.C.3
-
45
-
-
10744220931
-
Intestinal calcium transporter genes are upregulated by estrogens and the reproductive cycle through vitamin D receptor-independent mechanisms
-
Van Cromphaut S.J., Rummens K., Stockmans I., et al. Intestinal calcium transporter genes are upregulated by estrogens and the reproductive cycle through vitamin D receptor-independent mechanisms. J Bone Miner Res 2003, 18:1725-1736.
-
(2003)
J Bone Miner Res
, vol.18
, pp. 1725-1736
-
-
Van Cromphaut, S.J.1
Rummens, K.2
Stockmans, I.3
-
46
-
-
0026574290
-
Role of facilitated diffusion of calcium by calbindin in intestinal calcium absorption
-
Feher J.J., Fullmer C.S., Wasserman R.H. Role of facilitated diffusion of calcium by calbindin in intestinal calcium absorption. Am J Physiol 1992, 262:C517-C526.
-
(1992)
Am J Physiol
, vol.262
, pp. C517-C526
-
-
Feher, J.J.1
Fullmer, C.S.2
Wasserman, R.H.3
-
47
-
-
0343383379
-
Micropuncture study of renal tubular reabsorption on calcium in normal rodents
-
Lassiter W.E., Gottschalk C.W., Mylle M. Micropuncture study of renal tubular reabsorption on calcium in normal rodents. Am J Physiol 1963, 204:771-775.
-
(1963)
Am J Physiol
, vol.204
, pp. 771-775
-
-
Lassiter, W.E.1
Gottschalk, C.W.2
Mylle, M.3
-
48
-
-
0029056173
-
Cellular calcium transport in renal epithelia: measurement, mechanisms, and regulation. [Review] [418 refs]
-
Friedman P.A., Gesek F.A. Cellular calcium transport in renal epithelia: measurement, mechanisms, and regulation. [Review] [418 refs]. Physiol Rev 1995, 75:429-471.
-
(1995)
Physiol Rev
, vol.75
, pp. 429-471
-
-
Friedman, P.A.1
Gesek, F.A.2
-
49
-
-
85072144712
-
Effects of PTH on calcium transport across the cortical thick ascending limb of Henle's loop
-
Bourdeau J.E., Burg M.B. Effects of PTH on calcium transport across the cortical thick ascending limb of Henle's loop. Am J Physiol 1979, 238:F350.
-
(1979)
Am J Physiol
, vol.238
, pp. F350
-
-
Bourdeau, J.E.1
Burg, M.B.2
-
50
-
-
0019133486
-
Calcium transport in the thick ascending limb of Henle: Heterogeneity of function in the medullary and cortical segments
-
Suki W.N., Rouse D., Ng R.C., Kokko J.P. Calcium transport in the thick ascending limb of Henle: Heterogeneity of function in the medullary and cortical segments. J Clin Invest 1980, 66:1004-1009.
-
(1980)
J Clin Invest
, vol.66
, pp. 1004-1009
-
-
Suki, W.N.1
Rouse, D.2
Ng, R.C.3
Kokko, J.P.4
-
51
-
-
0020045497
-
Magnesium transport in the cortical thick ascending limb of Henle's loop of the rabbit
-
Shareghi G.R., Agus Z.S. Magnesium transport in the cortical thick ascending limb of Henle's loop of the rabbit. J Clin Invest 1982, 69:759.
-
(1982)
J Clin Invest
, vol.69
, pp. 759
-
-
Shareghi, G.R.1
Agus, Z.S.2
-
52
-
-
17744408779
-
Effect of PTH on calcium transport across the cortical thick ascending limb of Henle's loop
-
Bourdeau J.E., Burg M.B. Effect of PTH on calcium transport across the cortical thick ascending limb of Henle's loop. Am J Physiol 1980, 239:F121-F126.
-
(1980)
Am J Physiol
, vol.239
, pp. F121-F126
-
-
Bourdeau, J.E.1
Burg, M.B.2
-
53
-
-
0023837246
-
Basal and hormone-activated calcium absorption in mouse renal thick ascending limbs
-
Friedman P.A. Basal and hormone-activated calcium absorption in mouse renal thick ascending limbs. Am J Physiol 1988, 254:F62-F70.
-
(1988)
Am J Physiol
, vol.254
, pp. F62-F70
-
-
Friedman, P.A.1
-
55
-
-
18244431922
-
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene
-
Weber S., Hoffmann K., Jeck N., et al. Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene. Eur J Hum Genet 2000, 8:414-422.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 414-422
-
-
Weber, S.1
Hoffmann, K.2
Jeck, N.3
-
56
-
-
0034999377
-
Paracellin-1 is critical for magnesium and calcium reabsorption in the human thick ascending limb of Henle
-
Blanchard A., Jeunemaitre X., Coudol P., et al. Paracellin-1 is critical for magnesium and calcium reabsorption in the human thick ascending limb of Henle. Kidney Int 2001, 59:2206-2215.
-
(2001)
Kidney Int
, vol.59
, pp. 2206-2215
-
-
Blanchard, A.1
Jeunemaitre, X.2
Coudol, P.3
-
57
-
-
33751097262
-
Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement
-
Konrad M., Schaller A., Seelow D., et al. Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. Am J Hum Genet 2006, 79:949-957.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 949-957
-
-
Konrad, M.1
Schaller, A.2
Seelow, D.3
-
58
-
-
0020371028
-
Effect of hypercalcemia on renal tubular handling of calcium and magnesium
-
Quamme G.A. Effect of hypercalcemia on renal tubular handling of calcium and magnesium. Canadian J Physiol Pharmacol 1982, 60:1275-1280.
-
(1982)
Canadian J Physiol Pharmacol
, vol.60
, pp. 1275-1280
-
-
Quamme, G.A.1
-
60
-
-
0029759098
-
Cytochrome P-450 metabolites mediate extracellular Ca(2+)-induced inhibition of apical K+ channels in the TAL
-
Wang W.H., Lu M., Hebert S.C. Cytochrome P-450 metabolites mediate extracellular Ca(2+)-induced inhibition of apical K+ channels in the TAL. Am J Physiol 1996, 271:C103-C111.
-
(1996)
Am J Physiol
, vol.271
, pp. C103-C111
-
-
Wang, W.H.1
Lu, M.2
Hebert, S.C.3
-
62
-
-
0036721367
-
Calcium-sensing receptor regulation of PTH-dependent calcium absorption by mouse cortical ascending limbs
-
Motoyama H.I., Friedman P.A. Calcium-sensing receptor regulation of PTH-dependent calcium absorption by mouse cortical ascending limbs. Am J Physiol 2002, 283:F399-F406.
-
(2002)
Am J Physiol
, vol.283
, pp. F399-F406
-
-
Motoyama, H.I.1
Friedman, P.A.2
-
63
-
-
0035090306
-
Gitelman's syndrome (familial hypokalemia-hypomagnesemia)
-
Barakat A.J., Rennert O.M. Gitelman's syndrome (familial hypokalemia-hypomagnesemia). J Nephrol 2001, 14:43-47.
-
(2001)
J Nephrol
, vol.14
, pp. 43-47
-
-
Barakat, A.J.1
Rennert, O.M.2
-
64
-
-
0036707879
-
Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome
-
Vargas-Poussou R., Huang C., Hulin P., et al. Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome. J Am Soc Nephrol 2002, 13:2259-2266.
-
(2002)
J Am Soc Nephrol
, vol.13
, pp. 2259-2266
-
-
Vargas-Poussou, R.1
Huang, C.2
Hulin, P.3
-
65
-
-
0017713908
-
Regulation of urinary calcium excretion in the rat
-
Agus Z.S., Chiu P.J.S., Goldberg M. Regulation of urinary calcium excretion in the rat. Am J Physiol 1977, 232:F545.
-
(1977)
Am J Physiol
, vol.232
, pp. F545
-
-
Agus, Z.S.1
Chiu, P.J.S.2
Goldberg, M.3
-
66
-
-
0019081951
-
Effect of PTH, ADH and cAMP on distal tubular Ca and Na reabsorption
-
Costanzo L.S., Windhager E.E. Effect of PTH, ADH and cAMP on distal tubular Ca and Na reabsorption. Am J Physiol 1980, 239:F478-F485.
-
(1980)
Am J Physiol
, vol.239
, pp. F478-F485
-
-
Costanzo, L.S.1
Windhager, E.E.2
-
67
-
-
0021266618
-
Comparison of calcium and sodium transport in early and late rat distal tubules: Effect of amiloride
-
Costanzo L.S. Comparison of calcium and sodium transport in early and late rat distal tubules: Effect of amiloride. Am J Physiol 1984, 246:F937-F945.
-
(1984)
Am J Physiol
, vol.246
, pp. F937-F945
-
-
Costanzo, L.S.1
-
68
-
-
0024370729
-
Plasma membrane calcium pump and 28-kDa calcium binding protein in cells of rat kidney distal tubules
-
Borke J.L., Caride A., Verma A.K., et al. Plasma membrane calcium pump and 28-kDa calcium binding protein in cells of rat kidney distal tubules. Am J Physiol 1989, 257:F842-F849.
-
(1989)
Am J Physiol
, vol.257
, pp. F842-F849
-
-
Borke, J.L.1
Caride, A.2
Verma, A.K.3
-
69
-
-
0024477150
-
The renal Na+/Ca++ exchange system is located exclusively in the distal tubule
-
Ramachandran C., Brunette M.G. The renal Na+/Ca++ exchange system is located exclusively in the distal tubule. Biochem J 1989, 257:259-264.
-
(1989)
Biochem J
, vol.257
, pp. 259-264
-
-
Ramachandran, C.1
Brunette, M.G.2
-
70
-
-
0033963206
-
Mammalian distal tubule: physiology, pathophysiology, and molecular anatomy. [Review] [304 refs]
-
Reilly R.F., Ellison D.H. Mammalian distal tubule: physiology, pathophysiology, and molecular anatomy. [Review] [304 refs]. Physiol Rev 2000, 80:277-313.
-
(2000)
Physiol Rev
, vol.80
, pp. 277-313
-
-
Reilly, R.F.1
Ellison, D.H.2
-
71
-
-
0034046343
-
Localization of the epithelial Ca(2+) channel in rabbit kidney and intestine
-
Hoenderop J.G., Hartog A., Stuiver M., et al. Localization of the epithelial Ca(2+) channel in rabbit kidney and intestine. J Am Soc Nephrol 2000, 11:1171-1178.
-
(2000)
J Am Soc Nephrol
, vol.11
, pp. 1171-1178
-
-
Hoenderop, J.G.1
Hartog, A.2
Stuiver, M.3
-
73
-
-
0037376254
-
Sodium and calcium transport pathways along the mammalian distal nephron: from rabbit to human. [Review] [142 refs]
-
Loffing J., Kaissling B. Sodium and calcium transport pathways along the mammalian distal nephron: from rabbit to human. [Review] [142 refs]. Am J Physiol 2003, 284:F628-F643.
-
(2003)
Am J Physiol
, vol.284
, pp. F628-F643
-
-
Loffing, J.1
Kaissling, B.2
-
74
-
-
0025102369
-
Effects of PTH, calcitonin, and cAMP on calcium transport in rabbit distal nephron segments
-
Shimizu T., Yoshitomi K., Nakamura N., Imai M. Effects of PTH, calcitonin, and cAMP on calcium transport in rabbit distal nephron segments. Am J Physiol 1990, 259:F408-F414.
-
(1990)
Am J Physiol
, vol.259
, pp. F408-F414
-
-
Shimizu, T.1
Yoshitomi, K.2
Nakamura, N.3
Imai, M.4
-
75
-
-
0026317297
-
2+ transport in primary cultures of rabbit kidney CCD: stimulation by 1,25-dihydroxyvitamin D3 and PTH Am J
-
2+ transport in primary cultures of rabbit kidney CCD: stimulation by 1,25-dihydroxyvitamin D3 and PTH Am J. Physiol 1991, 261:F799-F807.
-
(1991)
Physiol
, vol.261
, pp. F799-F807
-
-
Bindels, R.J.1
Hartog, A.2
Timmermans, J.3
Van Os, C.H.4
-
76
-
-
0347320924
-
2+ wasting, hyperabsorption, and reduced bone thickness in mice lacking TRPV5
-
2+ wasting, hyperabsorption, and reduced bone thickness in mice lacking TRPV5. J Clin Investig 2003, 112:1906-1914.
-
(2003)
J Clin Investig
, vol.112
, pp. 1906-1914
-
-
Hoenderop, J.G.1
van Leeuwen, J.P.2
van der Eerden, B.C.3
-
77
-
-
84873861072
-
Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5
-
e55412
-
Loh N.Y., Bentley L., Dimke H., et al. Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5. PLoS One 2013, 8. e55412.
-
(2013)
PLoS One
, vol.8
-
-
Loh, N.Y.1
Bentley, L.2
Dimke, H.3
-
78
-
-
0036436050
-
Cyclosporine A-induced hypercalciuria in calbindin-D28k knockout and wild-type mice
-
Lee C.T., Huynh V.M., Lai L.W., Lien Y.H. Cyclosporine A-induced hypercalciuria in calbindin-D28k knockout and wild-type mice. Kidney Int 2002, 62:2055-2061.
-
(2002)
Kidney Int
, vol.62
, pp. 2055-2061
-
-
Lee, C.T.1
Huynh, V.M.2
Lai, L.W.3
Lien, Y.H.4
-
79
-
-
0025193293
-
2+ channels in renal epithelial cells by parathyroid hormone
-
2+ channels in renal epithelial cells by parathyroid hormone. Nature 1990, 347:388-391.
-
(1990)
Nature
, vol.347
, pp. 388-391
-
-
Bacskai, B.J.1
Friedman, P.A.2
-
80
-
-
0042807476
-
The ClC-5 knockout mouse model of Dent's disease has renal hypercalciuria and increased bone turnover
-
Silva I.V., Cebotaru V., Wang H., et al. The ClC-5 knockout mouse model of Dent's disease has renal hypercalciuria and increased bone turnover. J Bone Mineral Res 2003, 18:615-623.
-
(2003)
J Bone Mineral Res
, vol.18
, pp. 615-623
-
-
Silva, I.V.1
Cebotaru, V.2
Wang, H.3
-
81
-
-
0038153196
-
Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules
-
Christensen E.I., Devuyst O., Dom G., et al. Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules. Proc Natl Acad Sci U S A 2003, 100:8472-8477.
-
(2003)
Proc Natl Acad Sci U S A
, vol.100
, pp. 8472-8477
-
-
Christensen, E.I.1
Devuyst, O.2
Dom, G.3
-
82
-
-
84876855574
-
Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients
-
Gorvin C.M., Wilmer M.J., Piret S.E., et al. Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients. Proc Natl Acad Sci U S A 2013, 110:7014-7019.
-
(2013)
Proc Natl Acad Sci U S A
, vol.110
, pp. 7014-7019
-
-
Gorvin, C.M.1
Wilmer, M.J.2
Piret, S.E.3
-
83
-
-
0014359063
-
Calcium and the kidney
-
Epstein F.H. Calcium and the kidney. Am J Med 1968, 45:700-715.
-
(1968)
Am J Med
, vol.45
, pp. 700-715
-
-
Epstein, F.H.1
-
84
-
-
0019856262
-
Adenylate cyclase and cell cyclic AMP of rat cortical thick ascending limb of Henle
-
Torikai S., Wang M.-S., Klein K.L., Kurokawa K. Adenylate cyclase and cell cyclic AMP of rat cortical thick ascending limb of Henle. Kidney Int 1981, 20:649-654.
-
(1981)
Kidney Int
, vol.20
, pp. 649-654
-
-
Torikai, S.1
Wang, M.-S.2
Klein, K.L.3
Kurokawa, K.4
-
85
-
-
0013027750
-
Kidney function in calcium and phosphate metabolism
-
Academic Press, New York, L.V. Avioli, S.M. Krane (Eds.)
-
Bijvoet O.L.M. Kidney function in calcium and phosphate metabolism. Metabolic bone disease 1977, vol. 1:49-140. Academic Press, New York. L.V. Avioli, S.M. Krane (Eds.).
-
(1977)
Metabolic bone disease
, vol.1
, pp. 49-140
-
-
Bijvoet, O.L.M.1
-
86
-
-
0014687147
-
Relation between serum and urinary calcium with particular reference to parathyroid activity
-
Peacock M., Robertson W.G., Nordin B.E.C. Relation between serum and urinary calcium with particular reference to parathyroid activity. Lancet 1969, 1:384-386.
-
(1969)
Lancet
, vol.1
, pp. 384-386
-
-
Peacock, M.1
Robertson, W.G.2
Nordin, B.E.C.3
-
87
-
-
79958182720
-
Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance
-
Linglart A., Menguy C., Couvineau A., et al. Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance. N Engl J Med 2011, 364:2218-2226.
-
(2011)
N Engl J Med
, vol.364
, pp. 2218-2226
-
-
Linglart, A.1
Menguy, C.2
Couvineau, A.3
-
88
-
-
0018027842
-
Calcium transport across segments of the rabbit distal nephron in vitro
-
Shareghi G.R., Stoner L.C. Calcium transport across segments of the rabbit distal nephron in vitro. Am J Physiol 1978, 235:F367-F375.
-
(1978)
Am J Physiol
, vol.235
, pp. F367-F375
-
-
Shareghi, G.R.1
Stoner, L.C.2
-
89
-
-
0019603752
-
Hormonal regulation of calcium transport in thick ascending limb renal tubules
-
Suki W.N., Rouse D. Hormonal regulation of calcium transport in thick ascending limb renal tubules. Am J Physiol 1981, 241:F171.
-
(1981)
Am J Physiol
, vol.241
, pp. F171
-
-
Suki, W.N.1
Rouse, D.2
-
90
-
-
12444271209
-
Regulation of renal calbindin-D28K [Review] [163 refs]
-
Hemmingsen C. Regulation of renal calbindin-D28K [Review] [163 refs]. Pharmacol Toxicol 2000, 87:5-30.
-
(2000)
Pharmacol Toxicol
, vol.87
, pp. 5-30
-
-
Hemmingsen, C.1
-
91
-
-
0021181801
-
Sodium gradient-dependent calcium uptake in renal basolateral membrane vesicles
-
Jayakumar A., Cheung L., Liang C.T., Sactor B. Sodium gradient-dependent calcium uptake in renal basolateral membrane vesicles. J Biol Chem 1984, 259:10827-10833.
-
(1984)
J Biol Chem
, vol.259
, pp. 10827-10833
-
-
Jayakumar, A.1
Cheung, L.2
Liang, C.T.3
Sactor, B.4
-
92
-
-
0021433856
-
Effects of luminal fluid anions on calcium transport by proximal tubule
-
Bomsztyk K., George J.P., Wright F.S. Effects of luminal fluid anions on calcium transport by proximal tubule. Am J Physiol 1984, 246:F600-F608.
-
(1984)
Am J Physiol
, vol.246
, pp. F600-F608
-
-
Bomsztyk, K.1
George, J.P.2
Wright, F.S.3
-
93
-
-
0021994149
-
Calcium transport in canine renal basolateral membrane vesicles. Effect of parathyroid hormones
-
Scoble J.E., Mills S., Hruska K.A. Calcium transport in canine renal basolateral membrane vesicles. Effect of parathyroid hormones. J Clin Invest 1985, 75:1096-1105.
-
(1985)
J Clin Invest
, vol.75
, pp. 1096-1105
-
-
Scoble, J.E.1
Mills, S.2
Hruska, K.A.3
-
94
-
-
0026061787
-
The mechanism of parathyroid hormone action on calcium reabsorption by the distal tubule
-
Bouhtiauy I., LaJeunesse D., Brunette M.G. The mechanism of parathyroid hormone action on calcium reabsorption by the distal tubule. Endocrinology 1991, 128:251-258.
-
(1991)
Endocrinology
, vol.128
, pp. 251-258
-
-
Bouhtiauy, I.1
LaJeunesse, D.2
Brunette, M.G.3
-
96
-
-
0026546948
-
Parathyroid hormone stimulates ATP-dependent calcium pump activity by a different mode in proximal and distal tubules of the rat
-
Tsukamoto Y., Saka S., Saitoh M. Parathyroid hormone stimulates ATP-dependent calcium pump activity by a different mode in proximal and distal tubules of the rat. Biochim Biophys Acta 1992, 1103:163-171.
-
(1992)
Biochim Biophys Acta
, vol.1103
, pp. 163-171
-
-
Tsukamoto, Y.1
Saka, S.2
Saitoh, M.3
-
97
-
-
0026649401
-
On the mechanism of parathyroid hormone stimulation of calcium uptake by mouse distal convoluted tubule cells
-
Gesek F.A., Friedman P.A. On the mechanism of parathyroid hormone stimulation of calcium uptake by mouse distal convoluted tubule cells. J Clin Investig 1992, 90:749-758.
-
(1992)
J Clin Investig
, vol.90
, pp. 749-758
-
-
Gesek, F.A.1
Friedman, P.A.2
-
99
-
-
0028178035
-
2+ transport in rabbit connecting tubule: role of the stretch-activated nonselective cation channel
-
2+ transport in rabbit connecting tubule: role of the stretch-activated nonselective cation channel. J Membrane Biol 1994, 140:123-132.
-
(1994)
J Membrane Biol
, vol.140
, pp. 123-132
-
-
Taniguchi, J.1
Takeda, M.2
Yoshitomi, K.3
Imai, M.4
-
100
-
-
0025873413
-
Consequences of differential effects of ADH and other peptide hormones on thick ascending limb of mammalian kidney
-
de Rouffignac C., DiStefano A., Wittner M., et al. Consequences of differential effects of ADH and other peptide hormones on thick ascending limb of mammalian kidney. Am J Physiol 1991, 260:R1023-R1035.
-
(1991)
Am J Physiol
, vol.260
, pp. R1023-R1035
-
-
de Rouffignac, C.1
DiStefano, A.2
Wittner, M.3
-
101
-
-
0029951194
-
Extracellular calcium-sensing receptor: implications for calcium and magnesium handling in the kidney
-
Hebert S.C. Extracellular calcium-sensing receptor: implications for calcium and magnesium handling in the kidney. Kidney Int 1996, 50:2129-2139.
-
(1996)
Kidney Int
, vol.50
, pp. 2129-2139
-
-
Hebert, S.C.1
-
102
-
-
0029813101
-
Selective modulation by vitamin D of renal response to parathyroid hormone: a study in calcitriol-resistant rickets
-
Even L., Weisman Y., Goldray D., Hochberg Z. Selective modulation by vitamin D of renal response to parathyroid hormone: a study in calcitriol-resistant rickets. J Clin Endocrinol Metab 1996, 81:2836-2840.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 2836-2840
-
-
Even, L.1
Weisman, Y.2
Goldray, D.3
Hochberg, Z.4
-
103
-
-
0027399368
-
Calcium transport in renal epithelial cells
-
Friedman P.A., Gesek F.A. Calcium transport in renal epithelial cells. Am J Physiol 1993, 264:F181-F198.
-
(1993)
Am J Physiol
, vol.264
, pp. F181-F198
-
-
Friedman, P.A.1
Gesek, F.A.2
-
104
-
-
0016213439
-
Renal actions of vitamin D in D-deficient rats
-
Costanzo L.S., Sheehe P.R., Weiner I.M. Renal actions of vitamin D in D-deficient rats. Am J Physiol 1974, 226:1490-1495.
-
(1974)
Am J Physiol
, vol.226
, pp. 1490-1495
-
-
Costanzo, L.S.1
Sheehe, P.R.2
Weiner, I.M.3
-
105
-
-
0024344467
-
Vitamin D-dependent calcium binding proteins: chemistry, distribution, functional considerations, and molecular biology. [Review] [251 refs]
-
Christakos S., Gabrielides C., Rhoten W.B. Vitamin D-dependent calcium binding proteins: chemistry, distribution, functional considerations, and molecular biology. [Review] [251 refs]. Endocr Rev 1989, 10:3-26.
-
(1989)
Endocr Rev
, vol.10
, pp. 3-26
-
-
Christakos, S.1
Gabrielides, C.2
Rhoten, W.B.3
-
106
-
-
0029853919
-
Localization and regulation by vitamin D of calcium transport proteins in rabbit cortical collecting system
-
Van Baal J., Yu A., Hartog A., et al. Localization and regulation by vitamin D of calcium transport proteins in rabbit cortical collecting system. Am J Physiol 1996, 271:F985-F993.
-
(1996)
Am J Physiol
, vol.271
, pp. F985-F993
-
-
Van Baal, J.1
Yu, A.2
Hartog, A.3
-
107
-
-
0034922840
-
Calcitriol controls the epithelial calcium channel in kidney
-
Hoenderop J.G., Muller D., Van Der Kemp A.W., et al. Calcitriol controls the epithelial calcium channel in kidney. J Am Soc Nephrol 2001, 12:1342-1349.
-
(2001)
J Am Soc Nephrol
, vol.12
, pp. 1342-1349
-
-
Hoenderop, J.G.1
Muller, D.2
Van Der Kemp, A.W.3
-
108
-
-
0014560425
-
Some acute effects of administered porcine calcitonin in man
-
Singer F.R., Woodhouse N.J., Parkinson D.K., Joplin G.F. Some acute effects of administered porcine calcitonin in man. Clin Sci 1969, 37:181-190.
-
(1969)
Clin Sci
, vol.37
, pp. 181-190
-
-
Singer, F.R.1
Woodhouse, N.J.2
Parkinson, D.K.3
Joplin, G.F.4
-
109
-
-
0018949801
-
Effect of growth hormone administration: Reciprocal changes in serum 1a,25-dihydroxyvitamin D and intestinal calcium absorption
-
Chipman J.J., Zerwekh J., Nicar M., et al. Effect of growth hormone administration: Reciprocal changes in serum 1a,25-dihydroxyvitamin D and intestinal calcium absorption. J Clin Endocrinol Metab 1980, 51:321-324.
-
(1980)
J Clin Endocrinol Metab
, vol.51
, pp. 321-324
-
-
Chipman, J.J.1
Zerwekh, J.2
Nicar, M.3
-
110
-
-
0019753931
-
The effects on mineral metabolism of overnight growth hormone infusion in growth hormone deficiency
-
Gertner J.M., Tamborlane W.V., Hintz R.L., et al. The effects on mineral metabolism of overnight growth hormone infusion in growth hormone deficiency. J Clin Endocrinol Metab 1981, 53:818-822.
-
(1981)
J Clin Endocrinol Metab
, vol.53
, pp. 818-822
-
-
Gertner, J.M.1
Tamborlane, W.V.2
Hintz, R.L.3
-
111
-
-
0030739356
-
Increased serum 1,25-dihydroxyvitamin D after growth hormone administration is not parathyroid hormone-mediated
-
Wright N.M., Papadea N., Wentz B., et al. Increased serum 1,25-dihydroxyvitamin D after growth hormone administration is not parathyroid hormone-mediated. Calcified Tissue Int 1997, 61:101-103.
-
(1997)
Calcified Tissue Int
, vol.61
, pp. 101-103
-
-
Wright, N.M.1
Papadea, N.2
Wentz, B.3
-
112
-
-
0019391579
-
Effects of short-term glucocorticoid administration on intestinal calcium absorption and circulating vitamin D metabolite concentrations in man
-
Hahn T.J., Halstead L.R., Baran D.T. Effects of short-term glucocorticoid administration on intestinal calcium absorption and circulating vitamin D metabolite concentrations in man. J Clin Endocrinol Metab 1981, 52:111-114.
-
(1981)
J Clin Endocrinol Metab
, vol.52
, pp. 111-114
-
-
Hahn, T.J.1
Halstead, L.R.2
Baran, D.T.3
-
113
-
-
0014702239
-
Studies of the acute effects of aldosterone and cortisol on the interrelationship between renal sodium, calcium and magnesium excretion in normal man
-
Lemann J., Piering W.F., Lennon E.J. Studies of the acute effects of aldosterone and cortisol on the interrelationship between renal sodium, calcium and magnesium excretion in normal man. Nephron 1970, 7:117-130.
-
(1970)
Nephron
, vol.7
, pp. 117-130
-
-
Lemann, J.1
Piering, W.F.2
Lennon, E.J.3
-
114
-
-
0020431250
-
Vitamin D metabolites and parathyroid hormone in Cushing's syndrome: Relationship to calcium and phosphorus homeostasis
-
Findley J.W., Adams N.D., Lemann J., et al. Vitamin D metabolites and parathyroid hormone in Cushing's syndrome: Relationship to calcium and phosphorus homeostasis. J Clin Endocrinol Metab 1982, 54:1039-1044.
-
(1982)
J Clin Endocrinol Metab
, vol.54
, pp. 1039-1044
-
-
Findley, J.W.1
Adams, N.D.2
Lemann, J.3
-
115
-
-
0015493551
-
Treatment with oestrogens of primary hyperparathyroidism in post-menopausal women
-
Gallagher J.C., Nordin B.E.C. Treatment with oestrogens of primary hyperparathyroidism in post-menopausal women. Lancet 1972, 1:503-507.
-
(1972)
Lancet
, vol.1
, pp. 503-507
-
-
Gallagher, J.C.1
Nordin, B.E.C.2
-
116
-
-
0028841891
-
Mechanism of renal calcium conservation with estrogen replacement therapy in women in early menopause-a clinical research center study
-
McKane W., Khosla S., Burritt M., et al. Mechanism of renal calcium conservation with estrogen replacement therapy in women in early menopause-a clinical research center study. J Clin Endocrinol Metab 1995, 80:3458-3464.
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 3458-3464
-
-
McKane, W.1
Khosla, S.2
Burritt, M.3
-
117
-
-
0036069660
-
1,25-dihydroxyvitamin D(3)-independent stimulatory effect of estrogen on the expression of ECaC1 in the kidney
-
Van Abel M., Hoenderop J.G., Dardenne O., et al. 1,25-dihydroxyvitamin D(3)-independent stimulatory effect of estrogen on the expression of ECaC1 in the kidney. J Am Soc Nephrol 2002, 13:2102-2109.
-
(2002)
J Am Soc Nephrol
, vol.13
, pp. 2102-2109
-
-
Van Abel, M.1
Hoenderop, J.G.2
Dardenne, O.3
-
118
-
-
0016659653
-
The effect of insulin on renal handling of sodium, potassium, calcium and phosphate in man
-
DeFronzo R.A., Cooke C.R., Andres R., et al. The effect of insulin on renal handling of sodium, potassium, calcium and phosphate in man. J Clin Invest 1975, 55:845-853.
-
(1975)
J Clin Invest
, vol.55
, pp. 845-853
-
-
DeFronzo, R.A.1
Cooke, C.R.2
Andres, R.3
-
119
-
-
0034979226
-
Effect of angiotensin II on calcium reabsorption by the luminal membranes of the nephron
-
Charbonneau A., Leclerc M., Brunette M.G. Effect of angiotensin II on calcium reabsorption by the luminal membranes of the nephron. Am J Physiol Endocrinol Metab 2001, 280:E928-936.
-
(2001)
Am J Physiol Endocrinol Metab
, vol.280
, pp. E928-936
-
-
Charbonneau, A.1
Leclerc, M.2
Brunette, M.G.3
-
120
-
-
0021041497
-
Human parathyroid hormone gene (PTH) is on short arm of chromosome 11
-
Naylor S.L., Sakaguchi A.Y., Szoka P., et al. Human parathyroid hormone gene (PTH) is on short arm of chromosome 11. Somatic Cell Genet 1983, 9:609-616.
-
(1983)
Somatic Cell Genet
, vol.9
, pp. 609-616
-
-
Naylor, S.L.1
Sakaguchi, A.Y.2
Szoka, P.3
-
121
-
-
0000364017
-
Nucleotide sequence of genomic DNA encoding human parathyroid hormone
-
Vasicek T., McDevitt B.E., Freeman M.W., et al. Nucleotide sequence of genomic DNA encoding human parathyroid hormone. Proc Natl Acad Sci U S A 1983, 80:2127-2131.
-
(1983)
Proc Natl Acad Sci U S A
, vol.80
, pp. 2127-2131
-
-
Vasicek, T.1
McDevitt, B.E.2
Freeman, M.W.3
-
123
-
-
0026693809
-
Sequences in the human parathyroid hormone gene that bind the 1,25- dihydroxyvitamin D3 receptor and mediate transcriptional repression in response to 1,25-dihydroxyvitamin D3
-
Demay M.B., Kiernan M.S., DeLuca H.F., Kronenberg H.M. Sequences in the human parathyroid hormone gene that bind the 1,25- dihydroxyvitamin D3 receptor and mediate transcriptional repression in response to 1,25-dihydroxyvitamin D3. Proc Natl Acad Sci U S A 1992, 89:8097-8101.
-
(1992)
Proc Natl Acad Sci U S A
, vol.89
, pp. 8097-8101
-
-
Demay, M.B.1
Kiernan, M.S.2
DeLuca, H.F.3
Kronenberg, H.M.4
-
124
-
-
0028858407
-
Parathyroid cell proliferation in normal and chronic renal failure in rats. The effects of calcium, phosphate, and vitamin D
-
Naveh-Many T., Rahaminov R., Livini N., Silver J. Parathyroid cell proliferation in normal and chronic renal failure in rats. The effects of calcium, phosphate, and vitamin D. J Clin Invest 1995, 96:1786-1793.
-
(1995)
J Clin Invest
, vol.96
, pp. 1786-1793
-
-
Naveh-Many, T.1
Rahaminov, R.2
Livini, N.3
Silver, J.4
-
125
-
-
0030012579
-
Direct effect of phosphorus on PTH secretion from whole rat parathyroid glands in vitro
-
Almaden Y., Canalejo A., Hernandez A., et al. Direct effect of phosphorus on PTH secretion from whole rat parathyroid glands in vitro. J Bone Miner Res 1996, 11:970-976.
-
(1996)
J Bone Miner Res
, vol.11
, pp. 970-976
-
-
Almaden, Y.1
Canalejo, A.2
Hernandez, A.3
-
126
-
-
0029887094
-
Phosphorus restriction prevents parathyroid gland growth. High phosphorus directly stimulates PTH secretion in vitro
-
Slatopolsky E., Finch J., Denda M., et al. Phosphorus restriction prevents parathyroid gland growth. High phosphorus directly stimulates PTH secretion in vitro. J Clin Invest 1996, 97:2534-2540.
-
(1996)
J Clin Invest
, vol.97
, pp. 2534-2540
-
-
Slatopolsky, E.1
Finch, J.2
Denda, M.3
-
127
-
-
0021072414
-
Direct regulation by calcium of cytoplasmic messenger ribonucleic acid coding for pre-proparathyroid hormone in isolated bovine parathyroid cells
-
Russell J., Lettieri D., Sherwood L.M. Direct regulation by calcium of cytoplasmic messenger ribonucleic acid coding for pre-proparathyroid hormone in isolated bovine parathyroid cells. J Clin Invest 1983, 72:1851-1855.
-
(1983)
J Clin Invest
, vol.72
, pp. 1851-1855
-
-
Russell, J.1
Lettieri, D.2
Sherwood, L.M.3
-
128
-
-
0024322187
-
Calcium regulates parathyroid hormone messenger ribonucleic acid (mRNA), but not calcitonin mRNA in vivo in the rat. Dominant role of 1,25-dihydroxyvitamin D
-
Naveh-Many T., Friedlaender M.M., Mayer H., Silver J. Calcium regulates parathyroid hormone messenger ribonucleic acid (mRNA), but not calcitonin mRNA in vivo in the rat. Dominant role of 1,25-dihydroxyvitamin D. Endocrinology 1989, 125:275-280.
-
(1989)
Endocrinology
, vol.125
, pp. 275-280
-
-
Naveh-Many, T.1
Friedlaender, M.M.2
Mayer, H.3
Silver, J.4
-
129
-
-
0016276687
-
Pre-proparathyroid hormone: a direct translation product of parathyroid messenger RNA
-
Kemper B., Habener J.F., Mulligan R.C., et al. Pre-proparathyroid hormone: a direct translation product of parathyroid messenger RNA. Proc Natl Acad Sci U S A 1974, 71:3731-3735.
-
(1974)
Proc Natl Acad Sci U S A
, vol.71
, pp. 3731-3735
-
-
Kemper, B.1
Habener, J.F.2
Mulligan, R.C.3
-
130
-
-
0026344131
-
A G protein-linked receptor for parathyroid hormone and parathyroid hormone-related peptide
-
Jüppner H., Abou-Samra A.B., Freeman M.W., et al. A G protein-linked receptor for parathyroid hormone and parathyroid hormone-related peptide. Science 1991, 254:1024-1026.
-
(1991)
Science
, vol.254
, pp. 1024-1026
-
-
Jüppner, H.1
Abou-Samra, A.B.2
Freeman, M.W.3
-
131
-
-
0026598246
-
Expression cloning of a common receptor for parathyroid hormone and parathyroid hormone-related peptide from rat osteoblast-like cells: a single receptor stimulates intracellular accumulation of both cAMP and inositol triphosphates and increases intracellular free calcium
-
Abou-Samra A.B., Jüppner H., Force T., et al. Expression cloning of a common receptor for parathyroid hormone and parathyroid hormone-related peptide from rat osteoblast-like cells: a single receptor stimulates intracellular accumulation of both cAMP and inositol triphosphates and increases intracellular free calcium. Proc Natl Acad Sci U S A 1992, 89:2732-2736.
-
(1992)
Proc Natl Acad Sci U S A
, vol.89
, pp. 2732-2736
-
-
Abou-Samra, A.B.1
Jüppner, H.2
Force, T.3
-
132
-
-
0028051509
-
Chromosomal location of the parathyroid hormone/parathyroid hormone-related protein receptor gene to human chromosome 3p21.2-p24.2
-
Gelbert L., Schipani E., Jüppner H., et al. Chromosomal location of the parathyroid hormone/parathyroid hormone-related protein receptor gene to human chromosome 3p21.2-p24.2. J Clin Endocrinol Metab 1994, 79:1046-1048.
-
(1994)
J Clin Endocrinol Metab
, vol.79
, pp. 1046-1048
-
-
Gelbert, L.1
Schipani, E.2
Jüppner, H.3
-
133
-
-
0028288301
-
Cloning of a parathyroid hormone/parathyroid hormone-related peptide receptor (PTHR) cDNA from a rat osteosarcoma (UMR106) cell line: chromosomal assignment of the gene in the human, mouse, and rat genomes
-
Pausova Z., Bourdon J., Clayton D., et al. Cloning of a parathyroid hormone/parathyroid hormone-related peptide receptor (PTHR) cDNA from a rat osteosarcoma (UMR106) cell line: chromosomal assignment of the gene in the human, mouse, and rat genomes. Genomics 1994, 20:20-26.
-
(1994)
Genomics
, vol.20
, pp. 20-26
-
-
Pausova, Z.1
Bourdon, J.2
Clayton, D.3
-
134
-
-
0001167383
-
Parathyroid hormone and parathyroid hormone-related peptide in the regulation of calcium homeostasis and bone development
-
Saunders, Philadelphia, L. DeGroot, J. Jameson (Eds.)
-
Jüppner H., Gardella T., Brown E., et al. Parathyroid hormone and parathyroid hormone-related peptide in the regulation of calcium homeostasis and bone development. Endocrinology 2000, 969-998. Saunders, Philadelphia. L. DeGroot, J. Jameson (Eds.).
-
(2000)
Endocrinology
, pp. 969-998
-
-
Jüppner, H.1
Gardella, T.2
Brown, E.3
-
135
-
-
0038687536
-
Developmental regulation of the growth plate
-
Kronenberg H. Developmental regulation of the growth plate. Nature 2003, 423:332-336.
-
(2003)
Nature
, vol.423
, pp. 332-336
-
-
Kronenberg, H.1
-
136
-
-
84856669927
-
Frequent germ-line mutations of the MEN 1, CASR, and HRPT2/CDC73 genes in young patients with clinically non-familial primary hyperparathyroidism
-
Starker L.F., Akerstrom T., Long W.D., et al. Frequent germ-line mutations of the MEN 1, CASR, and HRPT2/CDC73 genes in young patients with clinically non-familial primary hyperparathyroidism. Horm Cancer 2012, 3:44-51.
-
(2012)
Horm Cancer
, vol.3
, pp. 44-51
-
-
Starker, L.F.1
Akerstrom, T.2
Long, W.D.3
-
137
-
-
84884149259
-
Germline and somatic mutations in cyclin-dependent kinase inhibitor genes CDKN1A, CDKN2B, and CDKN2C in sporadic parathyroid adenomas
-
Costa-Guda J., Soong C.P., Parekh V.I., et al. Germline and somatic mutations in cyclin-dependent kinase inhibitor genes CDKN1A, CDKN2B, and CDKN2C in sporadic parathyroid adenomas. Horm Cancer 2013, 4:301-307.
-
(2013)
Horm Cancer
, vol.4
, pp. 301-307
-
-
Costa-Guda, J.1
Soong, C.P.2
Parekh, V.I.3
-
138
-
-
84865031294
-
Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN 1)
-
Thakker R.V., Newey P.J., Walls G.V., et al. Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN 1). J Clin Endocrinol Metab 2012, 97:2990-3011.
-
(2012)
J Clin Endocrinol Metab
, vol.97
, pp. 2990-3011
-
-
Thakker, R.V.1
Newey, P.J.2
Walls, G.V.3
-
139
-
-
77149133985
-
Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors
-
Newey P.J., Bowl M.R., Cranston T., Thakker R.V. Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors. Hum Mutat 2010, 31:295-307.
-
(2010)
Hum Mutat
, vol.31
, pp. 295-307
-
-
Newey, P.J.1
Bowl, M.R.2
Cranston, T.3
Thakker, R.V.4
-
140
-
-
84894478782
-
Multiple endocrine neoplasia type 1 (MEN 1) and type 4 (MEN4)
-
Thakker R.V. Multiple endocrine neoplasia type 1 (MEN 1) and type 4 (MEN4). Mol Cell Endocrinol 2013.
-
(2013)
Mol Cell Endocrinol
-
-
Thakker, R.V.1
-
141
-
-
67749130797
-
Medullary thyroid cancer: management guidelines of the American Thyroid Association
-
Kloos R.T., Eng C., Evans D.B., et al. Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid 2009, 19:565-612.
-
(2009)
Thyroid
, vol.19
, pp. 565-612
-
-
Kloos, R.T.1
Eng, C.2
Evans, D.B.3
-
142
-
-
84873636808
-
Frequent large germline HRPT2 deletions in a French National cohort of patients with primary hyperparathyroidism
-
Bricaire L., Odou M.F., Cardot-Bauters C., et al. Frequent large germline HRPT2 deletions in a French National cohort of patients with primary hyperparathyroidism. J Clin Endocrinol Metab 2013, 98:E403-E408.
-
(2013)
J Clin Endocrinol Metab
, vol.98
, pp. E403-E408
-
-
Bricaire, L.1
Odou, M.F.2
Cardot-Bauters, C.3
-
143
-
-
37349016937
-
Familial isolated primary hyperparathyroidism caused by mutations of the MEN 1 gene
-
Hannan F.M., Nesbit M.A., Christie P.T., et al. Familial isolated primary hyperparathyroidism caused by mutations of the MEN 1 gene. Nat Clin Pract Endocrinol Metab 2008, 4:53-58.
-
(2008)
Nat Clin Pract Endocrinol Metab
, vol.4
, pp. 53-58
-
-
Hannan, F.M.1
Nesbit, M.A.2
Christie, P.T.3
-
144
-
-
78649276821
-
A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia
-
Hannan F.M., Nesbit M.A., Christie P.T., et al. A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia. Clin Endocrinol (Oxf) 2010, 73:715-722.
-
(2010)
Clin Endocrinol (Oxf)
, vol.73
, pp. 715-722
-
-
Hannan, F.M.1
Nesbit, M.A.2
Christie, P.T.3
-
145
-
-
0027397923
-
The molecular genetics of the multiple endocrine neoplasia syndromes
-
Thakker R.V. The molecular genetics of the multiple endocrine neoplasia syndromes. Clin Endocrinol (Oxf) 1993, 38:1-14.
-
(1993)
Clin Endocrinol (Oxf)
, vol.38
, pp. 1-14
-
-
Thakker, R.V.1
-
146
-
-
0001710006
-
Clinical studies of multiple endocrine neoplasia type 1 (MEN 1)
-
Trump D., Farren B., Wooding C., et al. Clinical studies of multiple endocrine neoplasia type 1 (MEN 1). QJM 1996, 89:653-669.
-
(1996)
QJM
, vol.89
, pp. 653-669
-
-
Trump, D.1
Farren, B.2
Wooding, C.3
-
147
-
-
0003153033
-
Multiple Endocrine Neoplasia type 1
-
McGraw Hill, New York, T.B. Vogelstein, K. Kinzler (Eds.)
-
Marx S. Multiple Endocrine Neoplasia type 1. The genetic basis of human cancer 1998, 489-506. McGraw Hill, New York. T.B. Vogelstein, K. Kinzler (Eds.).
-
(1998)
The genetic basis of human cancer
, pp. 489-506
-
-
Marx, S.1
-
148
-
-
0032138226
-
Multiple endocrine neoplasia-syndromes of the twentieth century
-
Thakker R.V. Multiple endocrine neoplasia-syndromes of the twentieth century. J Clin Endocrinol Metab 1998, 83:2617-2620.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 2617-2620
-
-
Thakker, R.V.1
-
149
-
-
0030963446
-
Positional cloning of the gene for multiple endocrine neoplasia-type 1
-
Chandrasekharappa S.C., Guru S.C., Manickam P., et al. Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science 1997, 276:404-407.
-
(1997)
Science
, vol.276
, pp. 404-407
-
-
Chandrasekharappa, S.C.1
Guru, S.C.2
Manickam, P.3
-
150
-
-
8544266010
-
Identification of the multiple endocrine neoplasia type 1 (MEN 1) gene. The European Consortium on MEN 1
-
Lemmens I., Van de Ven W.J., Kas K., et al. Identification of the multiple endocrine neoplasia type 1 (MEN 1) gene. The European Consortium on MEN 1. Hum Mol Genet 1997, 6:1177-1183.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1177-1183
-
-
Lemmens, I.1
Van de Ven, W.J.2
Kas, K.3
-
152
-
-
38149112594
-
Multiple endocrine neoplasia type 1 (MEN 1): analysis of 1336 mutations reported in the first decade following identification of the gene
-
Lemos M.C., Thakker R.V. Multiple endocrine neoplasia type 1 (MEN 1): analysis of 1336 mutations reported in the first decade following identification of the gene. Hum Mutat 2008, 29:22-32.
-
(2008)
Hum Mutat
, vol.29
, pp. 22-32
-
-
Lemos, M.C.1
Thakker, R.V.2
-
153
-
-
18444381455
-
Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1
-
Turner J.J., Leotlela P.D., Pannett A.A., et al. Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1. J Clin Endocrinol Metab 2002, 87:2688-2693.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 2688-2693
-
-
Turner, J.J.1
Leotlela, P.D.2
Pannett, A.A.3
-
154
-
-
17344363260
-
Characterization of mutations in patients with multiple endocrine neoplasia type 1
-
Bassett J.H., Forbes S.A., Pannett A.A., et al. Characterization of mutations in patients with multiple endocrine neoplasia type 1. Am J Hum Genet 1998, 62:232-244.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 232-244
-
-
Bassett, J.H.1
Forbes, S.A.2
Pannett, A.A.3
-
155
-
-
14444288521
-
Mutation analysis of the MEN 1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism
-
Teh B.T., Kytola S., Farnebo F., et al. Mutation analysis of the MEN 1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism. J Clin Endocrinol Metab 1998, 83:2621-2626.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 2621-2626
-
-
Teh, B.T.1
Kytola, S.2
Farnebo, F.3
-
156
-
-
0030755071
-
Somatic mutation of the MEN 1 gene in parathyroid tumours
-
Heppner C., Kester M.B., Agarwal S.K., et al. Somatic mutation of the MEN 1 gene in parathyroid tumours. Nat Genet 1997, 16:375-378.
-
(1997)
Nat Genet
, vol.16
, pp. 375-378
-
-
Heppner, C.1
Kester, M.B.2
Agarwal, S.K.3
-
157
-
-
0030810185
-
Somatic mutations of the MEN 1 tumor suppressor gene in sporadic gastrinomas and insulinomas
-
Zhuang Z., Vortmeyer A.O., Pack S., et al. Somatic mutations of the MEN 1 tumor suppressor gene in sporadic gastrinomas and insulinomas. Cancer Res 1997, 57:4682-4686.
-
(1997)
Cancer Res
, vol.57
, pp. 4682-4686
-
-
Zhuang, Z.1
Vortmeyer, A.O.2
Pack, S.3
-
158
-
-
15144342434
-
Mutations of the MEN 1 tumor suppressor gene in pituitary tumors
-
Zhuang Z., Ezzat S.Z., Vortmeyer A.O., et al. Mutations of the MEN 1 tumor suppressor gene in pituitary tumors. Cancer Res 1997, 57:5446-5451.
-
(1997)
Cancer Res
, vol.57
, pp. 5446-5451
-
-
Zhuang, Z.1
Ezzat, S.Z.2
Vortmeyer, A.O.3
-
159
-
-
0031732536
-
Molecular characterization of the MEN 1 tumor suppressor gene in sporadic pituitary tumors
-
Prezant T.R., Levine J., Melmed S. Molecular characterization of the MEN 1 tumor suppressor gene in sporadic pituitary tumors. J Clin Endocrinol Metab 1998, 83:1388-1391.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 1388-1391
-
-
Prezant, T.R.1
Levine, J.2
Melmed, S.3
-
160
-
-
9844233708
-
Identification of MEN 1 gene mutations in sporadic carcinoid tumors of the lung
-
Debelenko L.V., Brambilla E., Agarwal S.K., et al. Identification of MEN 1 gene mutations in sporadic carcinoid tumors of the lung. Hum Mol Genet 1997, 6:2285-2290.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 2285-2290
-
-
Debelenko, L.V.1
Brambilla, E.2
Agarwal, S.K.3
-
161
-
-
0032481480
-
Multiple endocrine neoplasia 1 gene alterations in MEN 1-associated and sporadic lipomas
-
Vortmeyer A.O., Boni R., Pak E., et al. Multiple endocrine neoplasia 1 gene alterations in MEN 1-associated and sporadic lipomas. J Natl Cancer Inst 1998, 90:398-399.
-
(1998)
J Natl Cancer Inst
, vol.90
, pp. 398-399
-
-
Vortmeyer, A.O.1
Boni, R.2
Pak, E.3
-
162
-
-
15144346400
-
Alterations of the MEN 1 gene in sporadic parathyroid tumors
-
Farnebo F., Teh B.T., Kytola S., et al. Alterations of the MEN 1 gene in sporadic parathyroid tumors. J Clin Endocrinol Metab 1998, 83:2627-2630.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 2627-2630
-
-
Farnebo, F.1
Teh, B.T.2
Kytola, S.3
-
163
-
-
0031759392
-
Parathyroid MEN 1 gene mutations in relation to clinical characteristics of nonfamilial primary hyperparathyroidism
-
Carling T., Correa P., Hessman O., et al. Parathyroid MEN 1 gene mutations in relation to clinical characteristics of nonfamilial primary hyperparathyroidism. J Clin Endocrinol Metab 1998, 83:2960-2963.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 2960-2963
-
-
Carling, T.1
Correa, P.2
Hessman, O.3
-
164
-
-
0031726519
-
Analysis of loss of heterozygosity on chromosome 11 and infrequent inactivation of the MEN 1 gene in sporadic pituitary adenomas
-
Tanaka C., Kimura T., Yang P., et al. Analysis of loss of heterozygosity on chromosome 11 and infrequent inactivation of the MEN 1 gene in sporadic pituitary adenomas. J Clin Endocrinol Metab 1998, 83:2631-2634.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 2631-2634
-
-
Tanaka, C.1
Kimura, T.2
Yang, P.3
-
165
-
-
0034846922
-
Somatic mutations in MEN type 1 tumors, consistent with the Knudson "two-hit" hypothesis
-
Pannett A.A., Thakker R.V. Somatic mutations in MEN type 1 tumors, consistent with the Knudson "two-hit" hypothesis. J Clin Endocrinol Metab 2001, 86:4371-4374.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 4371-4374
-
-
Pannett, A.A.1
Thakker, R.V.2
-
166
-
-
0141885136
-
Menin, a tumor suppressor, represses JunD-mediated transcriptional activity by association with an mSin3A-histone deacetylase complex
-
Kim H., Lee J.E., Cho E.J., et al. Menin, a tumor suppressor, represses JunD-mediated transcriptional activity by association with an mSin3A-histone deacetylase complex. Cancer Res 2003, 63:6135-6139.
-
(2003)
Cancer Res
, vol.63
, pp. 6135-6139
-
-
Kim, H.1
Lee, J.E.2
Cho, E.J.3
-
167
-
-
27744555932
-
Menin represses JunD transcriptional activity in protein kinase C theta-mediated Nur77 expression
-
Kim H., Lee J.E., Kim B.Y., et al. Menin represses JunD transcriptional activity in protein kinase C theta-mediated Nur77 expression. Exp Mol Med 2005, 37:466-475.
-
(2005)
Exp Mol Med
, vol.37
, pp. 466-475
-
-
Kim, H.1
Lee, J.E.2
Kim, B.Y.3
-
168
-
-
70450227256
-
Suppression of lung adenocarcinoma through menin and polycomb gene-mediated repression of growth factor pleiotrophin
-
Gao S.B., Feng Z.J., Xu B., et al. Suppression of lung adenocarcinoma through menin and polycomb gene-mediated repression of growth factor pleiotrophin. Oncogene 2009, 28:4095-4104.
-
(2009)
Oncogene
, vol.28
, pp. 4095-4104
-
-
Gao, S.B.1
Feng, Z.J.2
Xu, B.3
-
169
-
-
84862777931
-
The same pocket in menin binds both MLL and JUND but has opposite effects on transcription
-
Huang J., Gurung B., Wan B., et al. The same pocket in menin binds both MLL and JUND but has opposite effects on transcription. Nature 2012, 482:542-546.
-
(2012)
Nature
, vol.482
, pp. 542-546
-
-
Huang, J.1
Gurung, B.2
Wan, B.3
-
170
-
-
10744224167
-
Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus
-
Hughes C.M., Rozenblatt-Rosen O., Milne T.A., et al. Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus. Mol Cell 2004, 13:587-597.
-
(2004)
Mol Cell
, vol.13
, pp. 587-597
-
-
Hughes, C.M.1
Rozenblatt-Rosen, O.2
Milne, T.A.3
-
171
-
-
26844548626
-
Menin regulates pancreatic islet growth by promoting histone methylation and expression of genes encoding p27Kip1 and p18INK4c
-
Karnik S.K., Hughes C.M., Gu X., et al. Menin regulates pancreatic islet growth by promoting histone methylation and expression of genes encoding p27Kip1 and p18INK4c. Proc Natl Acad Sci U S A 2005, 102:14659-14664.
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 14659-14664
-
-
Karnik, S.K.1
Hughes, C.M.2
Gu, X.3
-
172
-
-
20044380143
-
Menin and MLL cooperatively regulate expression of cyclin-dependent kinase inhibitors
-
Milne T.A., Hughes C.M., Lloyd R., et al. Menin and MLL cooperatively regulate expression of cyclin-dependent kinase inhibitors. Proc Natl Acad Sci U S A 2005, 102:749-754.
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 749-754
-
-
Milne, T.A.1
Hughes, C.M.2
Lloyd, R.3
-
173
-
-
84861587201
-
Genome-wide characterization of menin-dependent H3K4me3 reveals a specific role for menin in the regulation of genes implicated in MEN 1-like tumors
-
e37952
-
Agarwal S.K., Jothi R. Genome-wide characterization of menin-dependent H3K4me3 reveals a specific role for menin in the regulation of genes implicated in MEN 1-like tumors. PLoS One 2012, 7. e37952.
-
(2012)
PLoS One
, vol.7
-
-
Agarwal, S.K.1
Jothi, R.2
-
174
-
-
2942715029
-
Leukemia proto-oncoprotein MLL forms a SET1-like histone methyltransferase complex with menin to regulate Hox gene expression
-
Yokoyama A., Wang Z., Wysocka J., et al. Leukemia proto-oncoprotein MLL forms a SET1-like histone methyltransferase complex with menin to regulate Hox gene expression. Mol Cell Biol 2004, 24:5639-5649.
-
(2004)
Mol Cell Biol
, vol.24
, pp. 5639-5649
-
-
Yokoyama, A.1
Wang, Z.2
Wysocka, J.3
-
175
-
-
84879728552
-
Menin mediates epigenetic regulation via histone H3 lysine 9 methylation
-
e583
-
Yang Y.J., Song T.Y., Park J., et al. Menin mediates epigenetic regulation via histone H3 lysine 9 methylation. Cell Death Dis 2013, 4. e583.
-
(2013)
Cell Death Dis
, vol.4
-
-
Yang, Y.J.1
Song, T.Y.2
Park, J.3
-
176
-
-
0037821661
-
Multiple tumor suppressor pathways negatively regulate telomerase
-
Lin S.Y., Elledge S.J. Multiple tumor suppressor pathways negatively regulate telomerase. Cell 2003, 113:881-889.
-
(2003)
Cell
, vol.113
, pp. 881-889
-
-
Lin, S.Y.1
Elledge, S.J.2
-
177
-
-
2442419535
-
Transfection of the multiple endocrine neoplasia type 1 gene to a human endocrine pancreatic tumor cell line inhibits cell growth and affects expression of JunD, delta-like protein 1/preadipocyte factor-1, proliferating cell nuclear antigen, and QM/Jif-1
-
Stalberg P., Grimfjard P., Santesson M., et al. Transfection of the multiple endocrine neoplasia type 1 gene to a human endocrine pancreatic tumor cell line inhibits cell growth and affects expression of JunD, delta-like protein 1/preadipocyte factor-1, proliferating cell nuclear antigen, and QM/Jif-1. J Clin Endocrinol Metab 2004, 89:2326-2337.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 2326-2337
-
-
Stalberg, P.1
Grimfjard, P.2
Santesson, M.3
-
179
-
-
0037350113
-
Suppression of insulin-induced AP-1 transactivation by menin accompanies inhibition of c-Fos induction
-
Yumita W., Ikeo Y., Yamauchi K., et al. Suppression of insulin-induced AP-1 transactivation by menin accompanies inhibition of c-Fos induction. Int J Cancer 2003, 103:738-744.
-
(2003)
Int J Cancer
, vol.103
, pp. 738-744
-
-
Yumita, W.1
Ikeo, Y.2
Yamauchi, K.3
-
180
-
-
33846405651
-
Reconstituted expression of menin in MEN 1-deficient mouse Leydig tumour cells induces cell cycle arrest and apoptosis
-
Hussein N., Casse H., Fontaniere S., et al. Reconstituted expression of menin in MEN 1-deficient mouse Leydig tumour cells induces cell cycle arrest and apoptosis. Eur J Cancer 2007, 43:402-414.
-
(2007)
Eur J Cancer
, vol.43
, pp. 402-414
-
-
Hussein, N.1
Casse, H.2
Fontaniere, S.3
-
181
-
-
84867125363
-
MEN 1 gene replacement therapy reduces proliferation rates in a mouse model of pituitary adenomas
-
Walls G.V., Lemos M.C., Javid M., et al. MEN 1 gene replacement therapy reduces proliferation rates in a mouse model of pituitary adenomas. Cancer Res 2012, 72:5060-5068.
-
(2012)
Cancer Res
, vol.72
, pp. 5060-5068
-
-
Walls, G.V.1
Lemos, M.C.2
Javid, M.3
-
182
-
-
0027231568
-
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A
-
Mulligan L.M., Kwok J.B.J., Healey C.S., et al. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 1993, 363:458-460.
-
(1993)
Nature
, vol.363
, pp. 458-460
-
-
Mulligan, L.M.1
Kwok, J.B.J.2
Healey, C.S.3
-
183
-
-
0029000629
-
Genetic basis of endocrine disease: multiple endocrine neoplasia type 2
-
Mulligan L.M., Ponder B.A. Genetic basis of endocrine disease: multiple endocrine neoplasia type 2. J Clin Endocrinol Metab 1995, 80:1989-1995.
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 1989-1995
-
-
Mulligan, L.M.1
Ponder, B.A.2
-
184
-
-
1642275008
-
Analysis of the RET proto-oncogene in sporadic parathyroid tumors
-
Pausova Z., Soliman E., Amizuka N., et al. Analysis of the RET proto-oncogene in sporadic parathyroid tumors. J Bone Mineral Research 1994, 9:S151.
-
(1994)
J Bone Mineral Research
, vol.9
, pp. S151
-
-
Pausova, Z.1
Soliman, E.2
Amizuka, N.3
-
185
-
-
0028866313
-
Absence of RET proto-oncogene point mutations in sporadic hyperplastic and neoplastic lesions of the parathyroid gland
-
Padberg B.C., Schroder S., Jochum W., et al. Absence of RET proto-oncogene point mutations in sporadic hyperplastic and neoplastic lesions of the parathyroid gland. Am J Pathol 1995, 147:1600-1607.
-
(1995)
Am J Pathol
, vol.147
, pp. 1600-1607
-
-
Padberg, B.C.1
Schroder, S.2
Jochum, W.3
-
186
-
-
0031008810
-
Genetic testing in medullary thyroid carcinoma syndromes: mutation types and clinical significance
-
Heshmati H.M., Gharib H., Khosla S., et al. Genetic testing in medullary thyroid carcinoma syndromes: mutation types and clinical significance. Mayo Clin Proc 1997, 72:430-436.
-
(1997)
Mayo Clin Proc
, vol.72
, pp. 430-436
-
-
Heshmati, H.M.1
Gharib, H.2
Khosla, S.3
-
187
-
-
79958776280
-
Inactivating calcium-sensing receptor mutations in patients with primary hyperparathyroidism
-
Frank-Raue K., Leidig-Bruckner G., Haag C., et al. Inactivating calcium-sensing receptor mutations in patients with primary hyperparathyroidism. Clin Endocrinol (Oxf) 2011, 75(1):50-55.
-
(2011)
Clin Endocrinol (Oxf)
, vol.75
, Issue.1
, pp. 50-55
-
-
Frank-Raue, K.1
Leidig-Bruckner, G.2
Haag, C.3
-
188
-
-
24944531368
-
Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A
-
Skinner M.A., Moley J.A., Dilley W.G., et al. Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A. N Engl J Med 2005, 353:1105-1113.
-
(2005)
N Engl J Med
, vol.353
, pp. 1105-1113
-
-
Skinner, M.A.1
Moley, J.A.2
Dilley, W.G.3
-
189
-
-
33750361636
-
Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans
-
Pellegata N.S., Quintanilla-Martinez L., Siggelkow H., et al. Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans. Proc Natl Acad Sci U S A 2006, 103:15558-15563.
-
(2006)
Proc Natl Acad Sci U S A
, vol.103
, pp. 15558-15563
-
-
Pellegata, N.S.1
Quintanilla-Martinez, L.2
Siggelkow, H.3
-
190
-
-
84876002553
-
A novel mutation in the upstream open reading frame of the CDKN1B gene causes a MEN4 phenotype
-
e1003350
-
Occhi G., Regazzo D., Trivellin G., et al. A novel mutation in the upstream open reading frame of the CDKN1B gene causes a MEN4 phenotype. PLoS Genet 2013, 9. e1003350.
-
(2013)
PLoS Genet
, vol.9
-
-
Occhi, G.1
Regazzo, D.2
Trivellin, G.3
-
191
-
-
84857946496
-
Functional characterization of a rare germline mutation in the gene encoding the cyclin-dependent kinase inhibitor p27Kip1 (CDKN1B) in a Spanish patient with multiple endocrine neoplasia-like phenotype
-
Malanga D., De Gisi S., Riccardi M., Scrima M., et al. Functional characterization of a rare germline mutation in the gene encoding the cyclin-dependent kinase inhibitor p27Kip1 (CDKN1B) in a Spanish patient with multiple endocrine neoplasia-like phenotype. Eur J Endocrinol 2012, 166:551-560.
-
(2012)
Eur J Endocrinol
, vol.166
, pp. 551-560
-
-
Malanga, D.1
De Gisi, S.2
Riccardi, M.3
Scrima, M.4
-
192
-
-
84859641230
-
Novel mutations in MEN 1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain
-
Belar O., De La Hoz C., Perez-Nanclares G., et al. Novel mutations in MEN 1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain. Clin Endocrinol (Oxf) 2012, 76:719-724.
-
(2012)
Clin Endocrinol (Oxf)
, vol.76
, pp. 719-724
-
-
Belar, O.1
De La Hoz, C.2
Perez-Nanclares, G.3
-
193
-
-
66149129256
-
Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states
-
Agarwal S.K., Mateo C.M., Marx S.J. Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states. J Clin Endocrinol Metab 2009, 94:1826-1834.
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 1826-1834
-
-
Agarwal, S.K.1
Mateo, C.M.2
Marx, S.J.3
-
194
-
-
79953853401
-
Somatic mutation and germline sequence abnormalities in CDKN1B, encoding p27Kip1, in sporadic parathyroid adenomas
-
Costa-Guda J., Marinoni I., Molatore S., et al. Somatic mutation and germline sequence abnormalities in CDKN1B, encoding p27Kip1, in sporadic parathyroid adenomas. J Clin Endocrinol Metab 2011, 96:E701-E706.
-
(2011)
J Clin Endocrinol Metab
, vol.96
, pp. E701-E706
-
-
Costa-Guda, J.1
Marinoni, I.2
Molatore, S.3
-
196
-
-
0025642521
-
Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome
-
discussion 1012-1003
-
Jackson C.E., Norum R.A., Boyd S.B., et al. Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome. Surgery 1990, 108:1006-1012. discussion 1012-1003.
-
(1990)
Surgery
, vol.108
, pp. 1006-1012
-
-
Jackson, C.E.1
Norum, R.A.2
Boyd, S.B.3
-
197
-
-
19944434120
-
Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome
-
Bradley K.J., Hobbs M.R., Buley I.D., et al. Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome. J Intern Med 2005, 257:18-26.
-
(2005)
J Intern Med
, vol.257
, pp. 18-26
-
-
Bradley, K.J.1
Hobbs, M.R.2
Buley, I.D.3
-
198
-
-
0028958106
-
Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31
-
Szabo J., Heath B., Hill V.M., et al. Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31. Am J Hum Genet 1995, 56:944-950.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 944-950
-
-
Szabo, J.1
Heath, B.2
Hill, V.M.3
-
199
-
-
0035060663
-
The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred
-
Cavaco B.M., Barros L., Pannett A.A., et al. The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred. QJM 2001, 94:213-222.
-
(2001)
QJM
, vol.94
, pp. 213-222
-
-
Cavaco, B.M.1
Barros, L.2
Pannett, A.A.3
-
200
-
-
0027140277
-
Familial isolated hyperparathyroidism: a distinct genetic entity with an increased risk of parathyroid cancer
-
Wassif W.S., Moniz C.F., Friedman E., et al. Familial isolated hyperparathyroidism: a distinct genetic entity with an increased risk of parathyroid cancer. J Clin Endocrinol Metab 1993, 77:1485-1489.
-
(1993)
J Clin Endocrinol Metab
, vol.77
, pp. 1485-1489
-
-
Wassif, W.S.1
Moniz, C.F.2
Friedman, E.3
-
201
-
-
0032899239
-
Mapping the gene causing hereditary primary hyperparathyroidism in a Portuguese kindred to chromosome 1q22-q31
-
Williamson C., Cavaco B.M., Jauch A., et al. Mapping the gene causing hereditary primary hyperparathyroidism in a Portuguese kindred to chromosome 1q22-q31. J Bone Miner Res 1999, 14:230-239.
-
(1999)
J Bone Miner Res
, vol.14
, pp. 230-239
-
-
Williamson, C.1
Cavaco, B.M.2
Jauch, A.3
-
202
-
-
0142213741
-
HRPT2, a marker of parathyroid cancer
-
Weinstein L.S., Simonds W.F. HRPT2, a marker of parathyroid cancer. N Engl J Med 2003, 349:1691-1692.
-
(2003)
N Engl J Med
, vol.349
, pp. 1691-1692
-
-
Weinstein, L.S.1
Simonds, W.F.2
-
203
-
-
18744385803
-
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome
-
Carpten J.D., Robbins C.M., Villablanca A., et al. HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet 2002, 32:676-680.
-
(2002)
Nat Genet
, vol.32
, pp. 676-680
-
-
Carpten, J.D.1
Robbins, C.M.2
Villablanca, A.3
-
204
-
-
0142213734
-
Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma
-
Shattuck T.M., Valimaki S., Obara T., et al. Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. N Engl J Med 2003, 349:1722-1729.
-
(2003)
N Engl J Med
, vol.349
, pp. 1722-1729
-
-
Shattuck, T.M.1
Valimaki, S.2
Obara, T.3
-
205
-
-
0041328511
-
HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours
-
Howell V.M., Haven C.J., Kahnoski K., et al. HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours. J Med Genet 2003, 40:657-663.
-
(2003)
J Med Genet
, vol.40
, pp. 657-663
-
-
Howell, V.M.1
Haven, C.J.2
Kahnoski, K.3
-
206
-
-
33644943454
-
Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours
-
Bradley K.J., Cavaco B.M., Bowl M.R., et al. Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours. Clin Endocrinol (Oxf) 2006, 64:299-306.
-
(2006)
Clin Endocrinol (Oxf)
, vol.64
, pp. 299-306
-
-
Bradley, K.J.1
Cavaco, B.M.2
Bowl, M.R.3
-
207
-
-
33645033294
-
Genetic analyses in familial isolated hyperparathyroidism: implication for clinical assessment and surgical management
-
Cetani F., Pardi E., Ambrogini E., et al. Genetic analyses in familial isolated hyperparathyroidism: implication for clinical assessment and surgical management. Clin Endocrinol (Oxf) 2006, 64:146-152.
-
(2006)
Clin Endocrinol (Oxf)
, vol.64
, pp. 146-152
-
-
Cetani, F.1
Pardi, E.2
Ambrogini, E.3
-
208
-
-
24344498667
-
HRPT2 mutational analysis of typical sporadic parathyroid adenomas
-
Krebs L.J., Shattuck T.M., Arnold A. HRPT2 mutational analysis of typical sporadic parathyroid adenomas. J Clin Endocrinol Metab 2005, 90:5015-5017.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 5015-5017
-
-
Krebs, L.J.1
Shattuck, T.M.2
Arnold, A.3
-
209
-
-
34249061535
-
Sporadic human renal tumors display frequent allelic imbalances and novel mutations of the HRPT2 gene
-
Zhao J., Yart A., Frigerio S., et al. Sporadic human renal tumors display frequent allelic imbalances and novel mutations of the HRPT2 gene. Oncogene 2007, 26:3440-3449.
-
(2007)
Oncogene
, vol.26
, pp. 3440-3449
-
-
Zhao, J.1
Yart, A.2
Frigerio, S.3
-
210
-
-
39149103044
-
Downregulated parafibromin expression is a promising marker for pathogenesis, invasion, metastasis and prognosis of gastric carcinomas
-
Zheng H.C., Takahashi H., Li X.H., et al. Downregulated parafibromin expression is a promising marker for pathogenesis, invasion, metastasis and prognosis of gastric carcinomas. Virchows Arch 2008, 452:147-155.
-
(2008)
Virchows Arch
, vol.452
, pp. 147-155
-
-
Zheng, H.C.1
Takahashi, H.2
Li, X.H.3
-
211
-
-
38449123774
-
Parafibromin expression in breast cancer: a novel marker for prognostication?
-
Selvarajan S., Sii L.H., Lee A., et al. Parafibromin expression in breast cancer: a novel marker for prognostication?. J Clin Pathol 2008, 61:64-67.
-
(2008)
J Clin Pathol
, vol.61
, pp. 64-67
-
-
Selvarajan, S.1
Sii, L.H.2
Lee, A.3
-
212
-
-
33847240834
-
Parafibromin is a nuclear protein with a functional monopartite nuclear localization signal
-
Bradley K.J., Bowl M.R., Williams S.E., et al. Parafibromin is a nuclear protein with a functional monopartite nuclear localization signal. Oncogene 2007, 26:1213-1221.
-
(2007)
Oncogene
, vol.26
, pp. 1213-1221
-
-
Bradley, K.J.1
Bowl, M.R.2
Williams, S.E.3
-
213
-
-
11844269891
-
The parafibromin tumor suppressor protein is part of a human Paf1 complex
-
Rozenblatt-Rosen O., Hughes C.M., Nannepaga S.J., et al. The parafibromin tumor suppressor protein is part of a human Paf1 complex. Mol Cell Biol 2005, 25:612-620.
-
(2005)
Mol Cell Biol
, vol.25
, pp. 612-620
-
-
Rozenblatt-Rosen, O.1
Hughes, C.M.2
Nannepaga, S.J.3
-
214
-
-
20344391925
-
The HRPT2 tumor suppressor gene product parafibromin associates with human PAF1 and RNA polymerase II
-
Yart A., Gstaiger M., Wirbelauer C., et al. The HRPT2 tumor suppressor gene product parafibromin associates with human PAF1 and RNA polymerase II. Mol Cell Biol 2005, 25:5052-5060.
-
(2005)
Mol Cell Biol
, vol.25
, pp. 5052-5060
-
-
Yart, A.1
Gstaiger, M.2
Wirbelauer, C.3
-
215
-
-
33646555522
-
Parafibromin/Hyrax activates Wnt/Wg target gene transcription by direct association with beta-catenin/Armadillo
-
Mosimann C., Hausmann G., Basler K. Parafibromin/Hyrax activates Wnt/Wg target gene transcription by direct association with beta-catenin/Armadillo. Cell 2006, 125:327-341.
-
(2006)
Cell
, vol.125
, pp. 327-341
-
-
Mosimann, C.1
Hausmann, G.2
Basler, K.3
-
216
-
-
60549089376
-
The Paf1 complex is required for efficient transcription elongation by RNA polymerase I
-
Zhang Y., Sikes M.L., Beyer A.L., Schneider D.A. The Paf1 complex is required for efficient transcription elongation by RNA polymerase I. Proc Natl Acad Sci U S A 2009, 106:2153-2158.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 2153-2158
-
-
Zhang, Y.1
Sikes, M.L.2
Beyer, A.L.3
Schneider, D.A.4
-
217
-
-
67349233100
-
The role of Parafibromin/Hyrax as a nuclear Gli/Ci-interacting protein in Hedgehog target gene control
-
Mosimann C., Hausmann G., Basler K. The role of Parafibromin/Hyrax as a nuclear Gli/Ci-interacting protein in Hedgehog target gene control. Mech Dev 2009, 126:394-405.
-
(2009)
Mech Dev
, vol.126
, pp. 394-405
-
-
Mosimann, C.1
Hausmann, G.2
Basler, K.3
-
218
-
-
58849148029
-
The tumor suppressor Cdc73 functionally associates with CPSF and CstF 3' mRNA processing factors
-
Rozenblatt-Rosen O., Nagaike T., Francis J.M., et al. The tumor suppressor Cdc73 functionally associates with CPSF and CstF 3' mRNA processing factors. Proc Natl Acad Sci U S A 2009, 106:755-760.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 755-760
-
-
Rozenblatt-Rosen, O.1
Nagaike, T.2
Francis, J.M.3
-
219
-
-
42349096478
-
Parafibromin, a component of the human PAF complex, regulates growth factors and is required for embryonic development and survival in adult mice
-
Wang P., Bowl M.R., Bender S., et al. Parafibromin, a component of the human PAF complex, regulates growth factors and is required for embryonic development and survival in adult mice. Mol Cell Biol 2008, 28:2930-2940.
-
(2008)
Mol Cell Biol
, vol.28
, pp. 2930-2940
-
-
Wang, P.1
Bowl, M.R.2
Bender, S.3
-
220
-
-
0038332150
-
Multiple endocrine neoplasia type 1 (MEN 1) germline mutations in familial isolated primary hyperparathyroidism
-
Pannett A.A., Kennedy A.M., Turner J.J., et al. Multiple endocrine neoplasia type 1 (MEN 1) germline mutations in familial isolated primary hyperparathyroidism. Clin Endocrinol (Oxf) 2003, 58:639-646.
-
(2003)
Clin Endocrinol (Oxf)
, vol.58
, pp. 639-646
-
-
Pannett, A.A.1
Kennedy, A.M.2
Turner, J.J.3
-
221
-
-
0035138842
-
Extracellular calcium sensing and extracellular calcium signaling
-
Brown E.M., MacLeod R.J. Extracellular calcium sensing and extracellular calcium signaling. Physiol Rev 2001, 81:239-297.
-
(2001)
Physiol Rev
, vol.81
, pp. 239-297
-
-
Brown, E.M.1
MacLeod, R.J.2
-
222
-
-
0036141731
-
Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds
-
Simonds W.F., James-Newton L.A., Agarwal S.K., et al. Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds. Medicine (Baltimore) 2002, 81:1-26.
-
(2002)
Medicine (Baltimore)
, vol.81
, pp. 1-26
-
-
Simonds, W.F.1
James-Newton, L.A.2
Agarwal, S.K.3
-
223
-
-
0842291514
-
Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome
-
Simonds W.F., Robbins C.M., Agarwal S.K., et al. Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. J Clin Endocrinol Metab 2004, 89:96-102.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 96-102
-
-
Simonds, W.F.1
Robbins, C.M.2
Agarwal, S.K.3
-
224
-
-
0032231883
-
A family with isolated hyperparathyroidism segregating a missense MEN 1 mutation and showing loss of the wild-type alleles in the parathyroid tumors
-
Teh B.T., Esapa C.T., Houlston R., et al. A family with isolated hyperparathyroidism segregating a missense MEN 1 mutation and showing loss of the wild-type alleles in the parathyroid tumors. Am J Hum Genet 1998, 63:1544-1549.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1544-1549
-
-
Teh, B.T.1
Esapa, C.T.2
Houlston, R.3
-
225
-
-
33746855998
-
Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3-14
-
e12
-
Warner J.V., Nyholt D.R., Busfield F., et al. Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3-14. J Med Genet 2006, 43. e12.
-
(2006)
J Med Genet
, vol.43
-
-
Warner, J.V.1
Nyholt, D.R.2
Busfield, F.3
-
226
-
-
51649105714
-
PTH mutation with primary hyperparathyroidism and undetectable intact PTH
-
Au A.Y., McDonald K., Gill A., et al. PTH mutation with primary hyperparathyroidism and undetectable intact PTH. N Engl J Med 2008, 359:1184-1186.
-
(2008)
N Engl J Med
, vol.359
, pp. 1184-1186
-
-
Au, A.Y.1
McDonald, K.2
Gill, A.3
-
227
-
-
0024374960
-
Molecular cloning and chromosomal mapping of DNA rearranged with the parathyroid hormone gene in a parathyroid adenoma
-
Arnold A., Kim H.G., Gaz R.D., Eddy R.L., et al. Molecular cloning and chromosomal mapping of DNA rearranged with the parathyroid hormone gene in a parathyroid adenoma. J Clin Invest 1989, 83:2034-2040.
-
(1989)
J Clin Invest
, vol.83
, pp. 2034-2040
-
-
Arnold, A.1
Kim, H.G.2
Gaz, R.D.3
Eddy, R.L.4
-
228
-
-
0025806904
-
A BCL1-linked candidate oncogene which is rearranged in parathyroid tumors encodes a novel cyclin
-
Motokura T., Bloom T., Kim H.G., et al. A BCL1-linked candidate oncogene which is rearranged in parathyroid tumors encodes a novel cyclin. Nature 1991, 350:512-515.
-
(1991)
Nature
, vol.350
, pp. 512-515
-
-
Motokura, T.1
Bloom, T.2
Kim, H.G.3
-
229
-
-
0025246110
-
Universal control mechanism regulating onset of M-phase
-
Nurse P. Universal control mechanism regulating onset of M-phase. Nature 1990, 344:503-508.
-
(1990)
Nature
, vol.344
, pp. 503-508
-
-
Nurse, P.1
-
230
-
-
4243642498
-
Chronic hyperparathyroidism in transgenic mice with parathyroid-targeted overexpression of cyclin D1/PRAD1
-
S110
-
Hosokawa Y., Yoshimoto K., Bronson R., et al. Chronic hyperparathyroidism in transgenic mice with parathyroid-targeted overexpression of cyclin D1/PRAD1. J Bone Miner Res 1997, 12(Suppl 1). S110.
-
(1997)
J Bone Miner Res
, vol.12
-
-
Hosokawa, Y.1
Yoshimoto, K.2
Bronson, R.3
-
231
-
-
0035014450
-
Primary hyperparathyroidism caused by parathyroid-targeted overexpression of cyclin D1 in transgenic mice
-
Imanishi Y., Hosokawa Y., Yoshimoto K., et al. Primary hyperparathyroidism caused by parathyroid-targeted overexpression of cyclin D1 in transgenic mice. J Clin Invest 2001, 107:1093-1102.
-
(2001)
J Clin Invest
, vol.107
, pp. 1093-1102
-
-
Imanishi, Y.1
Hosokawa, Y.2
Yoshimoto, K.3
-
232
-
-
0028243879
-
Mammary hyperplasia and carcinoma in MMTV-cyclin D1 transgenic mice
-
Wang T.C., Cardiff R.D., Zukerberg L., et al. Mammary hyperplasia and carcinoma in MMTV-cyclin D1 transgenic mice. Nature 1994, 369:669-671.
-
(1994)
Nature
, vol.369
, pp. 669-671
-
-
Wang, T.C.1
Cardiff, R.D.2
Zukerberg, L.3
-
233
-
-
0026337295
-
Tumor suppressor genes
-
Weinberg R.A. Tumor suppressor genes. Science 1991, 254:1138-1146.
-
(1991)
Science
, vol.254
, pp. 1138-1146
-
-
Weinberg, R.A.1
-
234
-
-
0028204821
-
Loss of the retinoblastoma tumor suppressor gene in parathryoid carcinoma
-
Cryns V.L., Thor A., Xu H.J., et al. Loss of the retinoblastoma tumor suppressor gene in parathryoid carcinoma. New Engl J Med 1994, 330:757-761.
-
(1994)
New Engl J Med
, vol.330
, pp. 757-761
-
-
Cryns, V.L.1
Thor, A.2
Xu, H.J.3
-
235
-
-
0029818901
-
Loss of heterozygosity studies at the retinoblastoma and breast cancer susceptibility (BRCA2) loci in pituitary, parathyroid, pancreatic and carcinoid tumours
-
Pearce S.H., Trump D., Wooding C., et al. Loss of heterozygosity studies at the retinoblastoma and breast cancer susceptibility (BRCA2) loci in pituitary, parathyroid, pancreatic and carcinoid tumours. Clin Endocrinol (Oxf) 1996, 45:195-200.
-
(1996)
Clin Endocrinol (Oxf)
, vol.45
, pp. 195-200
-
-
Pearce, S.H.1
Trump, D.2
Wooding, C.3
-
236
-
-
0347517693
-
Intragenic allelic loss and promoter hypermethylation of the RIZ1 tumor suppressor gene in parathyroid tumors and pheochromocytomas
-
discussion 939-940
-
Carling T., Du Y., Fang W., et al. Intragenic allelic loss and promoter hypermethylation of the RIZ1 tumor suppressor gene in parathyroid tumors and pheochromocytomas. Surgery 2003, 134:932-939. discussion 939-940.
-
(2003)
Surgery
, vol.134
, pp. 932-939
-
-
Carling, T.1
Du, Y.2
Fang, W.3
-
237
-
-
0028961786
-
Frequent loss of heterozygosity at the retinoblastoma susceptibility gene (RB) locus in aggressive pituitary tumors: evidence for a chromosome 13 tumor suppressor gene other than RB
-
Pei L., Melmed S., Scheithauer B., et al. Frequent loss of heterozygosity at the retinoblastoma susceptibility gene (RB) locus in aggressive pituitary tumors: evidence for a chromosome 13 tumor suppressor gene other than RB. Cancer Res 1995, 55:1613-1616.
-
(1995)
Cancer Res
, vol.55
, pp. 1613-1616
-
-
Pei, L.1
Melmed, S.2
Scheithauer, B.3
-
238
-
-
0029010785
-
Frequent loss of chromosomes arm 1p DNA in parathyroid adenomas
-
Cryns V.L., Yi S.M., Tahara H., et al. Frequent loss of chromosomes arm 1p DNA in parathyroid adenomas. Genes Chromosomes Cancer 1995, 13:9-17.
-
(1995)
Genes Chromosomes Cancer
, vol.13
, pp. 9-17
-
-
Cryns, V.L.1
Yi, S.M.2
Tahara, H.3
-
239
-
-
0030785767
-
Localisation of a gene causing endocrine neoplasia to a 4 cM region on chromosome 1p35-p36
-
Williamson C., Pannett A.A., Pang J.T., et al. Localisation of a gene causing endocrine neoplasia to a 4 cM region on chromosome 1p35-p36. J Med Genet 1997, 34:617-619.
-
(1997)
J Med Genet
, vol.34
, pp. 617-619
-
-
Williamson, C.1
Pannett, A.A.2
Pang, J.T.3
-
240
-
-
33846077660
-
Accumulation of nonphosphorylated beta-catenin and c-myc in primary and uremic secondary hyperparathyroid tumors
-
Bjorklund P., Åkerstrom G., Westin G. Accumulation of nonphosphorylated beta-catenin and c-myc in primary and uremic secondary hyperparathyroid tumors. J Clin Endocrinol Metab 2007, 92:338-344.
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 338-344
-
-
Bjorklund, P.1
Åkerstrom, G.2
Westin, G.3
-
241
-
-
36849014861
-
An LRP5 receptor with internal deletion in hyperparathyroid tumors with implications for deregulated WNT/beta-catenin signaling
-
e328
-
Bjorklund P., Åkerstrom G., Westin G. An LRP5 receptor with internal deletion in hyperparathyroid tumors with implications for deregulated WNT/beta-catenin signaling. PLoS Med 2007, 4. e328.
-
(2007)
PLoS Med
, vol.4
-
-
Bjorklund, P.1
Åkerstrom, G.2
Westin, G.3
-
242
-
-
46349098659
-
Stabilizing mutation of CTNNB1/beta-catenin and protein accumulation analyzed in a large series of parathyroid tumors of Swedish patients
-
53
-
Bjorklund P., Lindberg D., Åkerstrom G., Westin G. Stabilizing mutation of CTNNB1/beta-catenin and protein accumulation analyzed in a large series of parathyroid tumors of Swedish patients. Mol Cancer 2008, 7. 53.
-
(2008)
Mol Cancer
, vol.7
-
-
Bjorklund, P.1
Lindberg, D.2
Åkerstrom, G.3
Westin, G.4
-
243
-
-
34147126074
-
Absence of stabilizing mutations of beta-catenin encoded by CTNNB1 exon 3 in a large series of sporadic parathyroid adenomas
-
Costa-Guda J., Arnold A. Absence of stabilizing mutations of beta-catenin encoded by CTNNB1 exon 3 in a large series of sporadic parathyroid adenomas. J Clin Endocrinol Metab 2007, 92:1564-1566.
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 1564-1566
-
-
Costa-Guda, J.1
Arnold, A.2
-
244
-
-
0036511411
-
Immunohistochemistry of cyclin D1 and beta-catenin, and mutational analysis of exon 3 of beta-catenin gene in parathyroid adenomas
-
Ikeda S., Ishizaki Y., Shimizu Y., et al. Immunohistochemistry of cyclin D1 and beta-catenin, and mutational analysis of exon 3 of beta-catenin gene in parathyroid adenomas. Int J Oncol 2002, 20:463-466.
-
(2002)
Int J Oncol
, vol.20
, pp. 463-466
-
-
Ikeda, S.1
Ishizaki, Y.2
Shimizu, Y.3
-
245
-
-
84866170767
-
Identification of somatic mutations in parathyroid tumors using whole-exome sequencing
-
Cromer M.K., Starker L.F., Choi M., et al. Identification of somatic mutations in parathyroid tumors using whole-exome sequencing. J Clin Endocrinol Metab 2012, 97:E1774-E1781.
-
(2012)
J Clin Endocrinol Metab
, vol.97
, pp. E1774-E1781
-
-
Cromer, M.K.1
Starker, L.F.2
Choi, M.3
-
246
-
-
84867253808
-
Whole-exome sequencing studies of nonhereditary (sporadic) parathyroid adenomas
-
Newey P.J., Nesbit M.A., Rimmer A.J., et al. Whole-exome sequencing studies of nonhereditary (sporadic) parathyroid adenomas. J Clin Endocrinol Metab 2012, 97:E1995-E2005.
-
(2012)
J Clin Endocrinol Metab
, vol.97
, pp. E1995-E2005
-
-
Newey, P.J.1
Nesbit, M.A.2
Rimmer, A.J.3
-
247
-
-
0028946265
-
Monoclonality of parathyroid tumors in chronic renal failure and in primary parathyroid hyperplasia
-
Arnold A., Brown M.F., Urena P., et al. Monoclonality of parathyroid tumors in chronic renal failure and in primary parathyroid hyperplasia. J Clin Invest 1995, 95:2047-2053.
-
(1995)
J Clin Invest
, vol.95
, pp. 2047-2053
-
-
Arnold, A.1
Brown, M.F.2
Urena, P.3
-
248
-
-
84874090548
-
Molecular epidemiology of multiple endocrine neoplasia 2: implications for RET screening in the new millennium
-
Machens A., Lorenz K., Sekulla C., et al. Molecular epidemiology of multiple endocrine neoplasia 2: implications for RET screening in the new millennium. Eur J Endocrinol 2013, 168:307-314.
-
(2013)
Eur J Endocrinol
, vol.168
, pp. 307-314
-
-
Machens, A.1
Lorenz, K.2
Sekulla, C.3
-
249
-
-
85153822688
-
Calcium regulation, calcium homeostasis, and genetic disorders of calcium metabolism
-
Saunders, Philadelphia, L. DeGroot, J. Jameson (Eds.)
-
Thakker R., Bringhurst F., Jüppner H. Calcium regulation, calcium homeostasis, and genetic disorders of calcium metabolism. Endocrinology 2010, Saunders, Philadelphia. L. DeGroot, J. Jameson (Eds.).
-
(2010)
Endocrinology
-
-
Thakker, R.1
Bringhurst, F.2
Jüppner, H.3
-
250
-
-
84861734350
-
Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites
-
Hannan F.M., Nesbit M.A., Zhang C., et al. Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites. Hum Mol Genet 2012, 21:2768-2778.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 2768-2778
-
-
Hannan, F.M.1
Nesbit, M.A.2
Zhang, C.3
-
251
-
-
84879346919
-
Mutations affecting G-protein subunit alpha11 in hypercalcemia and hypocalcemia
-
Nesbit M.A., Hannan F.M., Howles S.A., et al. Mutations affecting G-protein subunit alpha11 in hypercalcemia and hypocalcemia. N Engl J Med 2013, 368:2476-2486.
-
(2013)
N Engl J Med
, vol.368
, pp. 2476-2486
-
-
Nesbit, M.A.1
Hannan, F.M.2
Howles, S.A.3
-
252
-
-
84871949038
-
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3
-
Nesbit M.A., Hannan F.M., Howles S.A., et al. Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. Nat Genet 2013, 45:93-97.
-
(2013)
Nat Genet
, vol.45
, pp. 93-97
-
-
Nesbit, M.A.1
Hannan, F.M.2
Howles, S.A.3
-
253
-
-
84861039167
-
Primary hyperparathyroidism and familial hypocalciuric hypercalcemia: relationships and clinical implications
-
Eldeiry L.S., Ruan D.T., Brown E.M., et al. Primary hyperparathyroidism and familial hypocalciuric hypercalcemia: relationships and clinical implications. Endocr Pract 2012, 18:412-417.
-
(2012)
Endocr Pract
, vol.18
, pp. 412-417
-
-
Eldeiry, L.S.1
Ruan, D.T.2
Brown, E.M.3
-
254
-
-
54049088254
-
Discriminative power of three indices of renal calcium excretion for the distinction between familial hypocalciuric hypercalcaemia and primary hyperparathyroidism: a follow-up study on methods
-
Christensen S.E., Nissen P.H., Vestergaard P., et al. Discriminative power of three indices of renal calcium excretion for the distinction between familial hypocalciuric hypercalcaemia and primary hyperparathyroidism: a follow-up study on methods. Clin Endocrinol (Oxf) 2008, 69:713-720.
-
(2008)
Clin Endocrinol (Oxf)
, vol.69
, pp. 713-720
-
-
Christensen, S.E.1
Nissen, P.H.2
Vestergaard, P.3
-
255
-
-
79953012556
-
Utility of the urine calcium-to-creatinine ratio to diagnose primary hyperparathyroidism in asymptomatic hypercalcaemic patients with vitamin D deficiency
-
Jayasena C.N., Mahmud M., Palazzo F., et al. Utility of the urine calcium-to-creatinine ratio to diagnose primary hyperparathyroidism in asymptomatic hypercalcaemic patients with vitamin D deficiency. Ann Clin Biochem 2011, 48:126-129.
-
(2011)
Ann Clin Biochem
, vol.48
, pp. 126-129
-
-
Jayasena, C.N.1
Mahmud, M.2
Palazzo, F.3
-
256
-
-
84855860631
-
Low urine calcium excretion in African American patients with primary hyperparathyroidism
-
Taha W., Singh N., Flack J.M., Abou-Samra A.B. Low urine calcium excretion in African American patients with primary hyperparathyroidism. Endocr Pract 2011, 17:867-872.
-
(2011)
Endocr Pract
, vol.17
, pp. 867-872
-
-
Taha, W.1
Singh, N.2
Flack, J.M.3
Abou-Samra, A.B.4
-
257
-
-
0027787680
-
2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
-
2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 1993, 75:1297-1303.
-
(1993)
Cell
, vol.75
, pp. 1297-1303
-
-
Pollak, M.R.1
Brown, E.M.2
WuChou, Y.H.3
-
258
-
-
0028988333
-
Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia
-
Chou Y.H., Pollak M.R., Brandi M.L., et al. Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia. Am J Hum Genet 1995, 56:1075-1079.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1075-1079
-
-
Chou, Y.H.1
Pollak, M.R.2
Brandi, M.L.3
-
259
-
-
0028848215
-
Calcium-sensing receptor mutations in familial benign hypercalcaemia and neonatal hyperparathyroidism
-
Pearce S., Trump D., Wooding C., et al. Calcium-sensing receptor mutations in familial benign hypercalcaemia and neonatal hyperparathyroidism. J Clin Invest 1995, 96:2683-2692.
-
(1995)
J Clin Invest
, vol.96
, pp. 2683-2692
-
-
Pearce, S.1
Trump, D.2
Wooding, C.3
-
260
-
-
0028940268
-
Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
-
Janicic N., Pausova Z., Cole D.E., Hendy G.N. Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Am J Hum Genet 1995, 56:880-886.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 880-886
-
-
Janicic, N.1
Pausova, Z.2
Cole, D.E.3
Hendy, G.N.4
-
261
-
-
0029142761
-
Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene
-
Aida K., Koishi S., Inoue M., et al. Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene. J Clin Endocrinol Metab 1995, 80:2594-2598.
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 2594-2598
-
-
Aida, K.1
Koishi, S.2
Inoue, M.3
-
262
-
-
9244231284
-
Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains
-
Heath H., Odelberg S., Jackson C.E., et al. Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains. J Clin Endocrinol Metab 1996, 81:1312-1317.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 1312-1317
-
-
Heath, H.1
Odelberg, S.2
Jackson, C.E.3
-
263
-
-
77449109652
-
Mutation analysis of MEN 1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition
-
Vierimaa O., Villablanca A., Alimov A., et al. Mutation analysis of MEN 1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition. J Endocrinol Invest 2009, 32:512-518.
-
(2009)
J Endocrinol Invest
, vol.32
, pp. 512-518
-
-
Vierimaa, O.1
Villablanca, A.2
Alimov, A.3
-
264
-
-
0027517161
-
Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: evidence for locus heterogeneity
-
Heath H., Jackson C.E., Otterrud B., Leppert M.F. Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: evidence for locus heterogeneity. Am J Hum Genet 1993, 53:193-200.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 193-200
-
-
Heath, H.1
Jackson, C.E.2
Otterrud, B.3
Leppert, M.F.4
-
265
-
-
0033366514
-
Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13
-
Lloyd S.E., Pannett A.A., Dixon P.H., et al. Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13. Am J Hum Genet 1999, 64:189-195.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 189-195
-
-
Lloyd, S.E.1
Pannett, A.A.2
Dixon, P.H.3
-
266
-
-
0029967961
-
Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells
-
Pearce S.H., Bai M., Quinn S.J., et al. Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells. J Clin Invest 1996, 98:1860-1866.
-
(1996)
J Clin Invest
, vol.98
, pp. 1860-1866
-
-
Pearce, S.H.1
Bai, M.2
Quinn, S.J.3
-
268
-
-
0028220464
-
Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype
-
Pollak M.R., Chou Y.H., Marx S.J., et al. Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype. J Clin Invest 1994, 93:1108-1112.
-
(1994)
J Clin Invest
, vol.93
, pp. 1108-1112
-
-
Pollak, M.R.1
Chou, Y.H.2
Marx, S.J.3
-
269
-
-
0031027244
-
2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia
-
2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia. J Clin Invest 1997, 99:88-96.
-
(1997)
J Clin Invest
, vol.99
, pp. 88-96
-
-
Bai, M.1
Pearce, S.H.2
Kifor, O.3
-
270
-
-
0037244847
-
A syndrome of hypocalciuric hypercalcemia caused by autoantibodies directed at the calcium-sensing receptor
-
Kifor O., Moore F.D., Delaney M., et al. A syndrome of hypocalciuric hypercalcemia caused by autoantibodies directed at the calcium-sensing receptor. J Clin Endocrinol Metab 2003, 88:60-72.
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 60-72
-
-
Kifor, O.1
Moore, F.D.2
Delaney, M.3
-
271
-
-
34248393065
-
An acquired hypocalciuric hypercalcemia autoantibody induces allosteric transition among active human Ca-sensing receptor conformations
-
Makita N., Sato J., Manaka K., et al. An acquired hypocalciuric hypercalcemia autoantibody induces allosteric transition among active human Ca-sensing receptor conformations. Proc Natl Acad Sci U S A 2007, 104:5443-5448.
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, pp. 5443-5448
-
-
Makita, N.1
Sato, J.2
Manaka, K.3
-
272
-
-
3242657067
-
Acquired hypocalciuric hypercalcemia due to autoantibodies against the calcium-sensing receptor
-
Pallais J.C., Kifor O., Chen Y.B., et al. Acquired hypocalciuric hypercalcemia due to autoantibodies against the calcium-sensing receptor. N Engl J Med 2004, 351:362-369.
-
(2004)
N Engl J Med
, vol.351
, pp. 362-369
-
-
Pallais, J.C.1
Kifor, O.2
Chen, Y.B.3
-
273
-
-
79952287926
-
Autoimmune hypocalciuric hypercalcemia unresponsive to glucocorticoid therapy in a patient with blocking autoantibodies against the calcium-sensing receptor
-
Pallais J.C., Kemp E.H., Bergwitz C., et al. Autoimmune hypocalciuric hypercalcemia unresponsive to glucocorticoid therapy in a patient with blocking autoantibodies against the calcium-sensing receptor. J Clin Endocrinol Metab 2011, 96:672-680.
-
(2011)
J Clin Endocrinol Metab
, vol.96
, pp. 672-680
-
-
Pallais, J.C.1
Kemp, E.H.2
Bergwitz, C.3
-
274
-
-
3242720771
-
Jansen's metaphyseal chondrodysplasia and Blomstrand's lethal chondrodysplasia: two genetic disorders caused by PTH/PTHrP receptor mutations
-
Academic Press, San Diego, J. Bilezikian, L. Raisz, G. Rodan (Eds.)
-
Jüppner H., Schipani E., Silve C. Jansen's metaphyseal chondrodysplasia and Blomstrand's lethal chondrodysplasia: two genetic disorders caused by PTH/PTHrP receptor mutations. Principles of Bone Biology 2002, 1117-1135. Academic Press, San Diego. J. Bilezikian, L. Raisz, G. Rodan (Eds.).
-
(2002)
Principles of Bone Biology
, pp. 1117-1135
-
-
Jüppner, H.1
Schipani, E.2
Silve, C.3
-
275
-
-
0028943780
-
A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia
-
Schipani E., Kruse K., Jüppner H. A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science 1995, 268:98-100.
-
(1995)
Science
, vol.268
, pp. 98-100
-
-
Schipani, E.1
Kruse, K.2
Jüppner, H.3
-
276
-
-
0029849784
-
Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia
-
Schipani E., Langman C.B., Parfitt A.M.J., et al. Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. New Engl J Med 1996, 335:708-714.
-
(1996)
New Engl J Med
, vol.335
, pp. 708-714
-
-
Schipani, E.1
Langman, C.B.2
Parfitt, A.M.J.3
-
277
-
-
0033305322
-
A novel PTH/PTHrP receptor mutation in Jansen's metaphyseal chondrodysplasia
-
Schipani E., Langman C.B., Hunzelman J., et al. A novel PTH/PTHrP receptor mutation in Jansen's metaphyseal chondrodysplasia. J Clin Endocrinol Metab 1999, 84:3052-3057.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 3052-3057
-
-
Schipani, E.1
Langman, C.B.2
Hunzelman, J.3
-
278
-
-
0030886783
-
Jansen-type metaphyseal chondrodysplasia: analysis of PTH/PTH-related protein receptor messenger RNA by the reverse transcription-polymerase chain method
-
Minagawa M., Arakawa K., Minamitani K., et al. Jansen-type metaphyseal chondrodysplasia: analysis of PTH/PTH-related protein receptor messenger RNA by the reverse transcription-polymerase chain method. Endocrine J 1997, 44:493-499.
-
(1997)
Endocrine J
, vol.44
, pp. 493-499
-
-
Minagawa, M.1
Arakawa, K.2
Minamitani, K.3
-
279
-
-
84859531950
-
Potential effects of alendronate on fibroblast growth factor 23 levels and effective control of hypercalciuria in an adult with Jansen's metaphyseal chondrodysplasia
-
Onuchic L., Ferraz-de-Souza B., Mendonca B.B., et al. Potential effects of alendronate on fibroblast growth factor 23 levels and effective control of hypercalciuria in an adult with Jansen's metaphyseal chondrodysplasia. J Clin Endocrinol Metab 2012, 97:1098-1103.
-
(2012)
J Clin Endocrinol Metab
, vol.97
, pp. 1098-1103
-
-
Onuchic, L.1
Ferraz-de-Souza, B.2
Mendonca, B.B.3
-
280
-
-
58149394434
-
Hypophosphatemia with elevations in serum fibroblast growth factor 23 in a child with Jansen's metaphyseal chondrodysplasia
-
Brown W.W., Jüppner H., Langman C.B., et al. Hypophosphatemia with elevations in serum fibroblast growth factor 23 in a child with Jansen's metaphyseal chondrodysplasia. J Clin Endocrinol Metab 2009, 94:17-20.
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 17-20
-
-
Brown, W.W.1
Jüppner, H.2
Langman, C.B.3
-
281
-
-
84884984764
-
Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R
-
Savoldi G., Izzi C., Signorelli M., et al. Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R. Am J Med Genet A 2013, 161:2614-2619.
-
(2013)
Am J Med Genet A
, vol.161
, pp. 2614-2619
-
-
Savoldi, G.1
Izzi, C.2
Signorelli, M.3
-
282
-
-
0031442990
-
Targeted expression of constitutively active PTH/PTHrP receptors delays endochondral bone formation and rescues PTHrP-less mice
-
Schipani E., Lanske B., Hunzelman J., et al. Targeted expression of constitutively active PTH/PTHrP receptors delays endochondral bone formation and rescues PTHrP-less mice. Proc Natl Acad Sci U S A 1997, 94:13689-13694.
-
(1997)
Proc Natl Acad Sci U S A
, vol.94
, pp. 13689-13694
-
-
Schipani, E.1
Lanske, B.2
Hunzelman, J.3
-
283
-
-
3242718379
-
A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating PTH/PTHrP receptor mutation
-
Bastepe M., Raas-Rothschild A., Silver J., et al. A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating PTH/PTHrP receptor mutation. J Clin Endocrinol Metab 2004, 89:3595-3600.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 3595-3600
-
-
Bastepe, M.1
Raas-Rothschild, A.2
Silver, J.3
-
284
-
-
0030991648
-
Constitutive activation of the cAMP signaling pathway by parathyroid hormone (PTH)/PTH-related peptide (PTHrP) receptors mutated at the two loci for Jansen's metaphyseal chondrodysplasia
-
Schipani E., Jensen G.S., Pincus J., et al. Constitutive activation of the cAMP signaling pathway by parathyroid hormone (PTH)/PTH-related peptide (PTHrP) receptors mutated at the two loci for Jansen's metaphyseal chondrodysplasia. Mol Endocrinol 1997, 11:851-858.
-
(1997)
Mol Endocrinol
, vol.11
, pp. 851-858
-
-
Schipani, E.1
Jensen, G.S.2
Pincus, J.3
-
285
-
-
74849117906
-
Williams-Beuren syndrome
-
Pober B.R. Williams-Beuren syndrome. N Engl J Med 2010, 362:239-252.
-
(2010)
N Engl J Med
, vol.362
, pp. 239-252
-
-
Pober, B.R.1
-
286
-
-
0027185655
-
Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome
-
Ewart A.K., Morris C.A., Atkinson D.L., et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nature Genet 1993, 5:11-16.
-
(1993)
Nature Genet
, vol.5
, pp. 11-16
-
-
Ewart, A.K.1
Morris, C.A.2
Atkinson, D.L.3
-
287
-
-
0028905182
-
Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome
-
Nickerson E., Greenberg F., Keating M.T., et al. Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome. Am J Hum Genet 1995, 56:1156-1161.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1156-1161
-
-
Nickerson, E.1
Greenberg, F.2
Keating, M.T.3
-
288
-
-
0029015848
-
Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients
-
Lowery M.C., Morris C.A., Ewart A., et al. Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients. Am J Hum Genet 1995, 57:49-53.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 49-53
-
-
Lowery, M.C.1
Morris, C.A.2
Ewart, A.3
-
289
-
-
0032554898
-
Elastin is an essential determinant of arterial morphogenesis
-
Li D., Brooke B., Davis E., et al. Elastin is an essential determinant of arterial morphogenesis. Nature 1998, 393:276-280.
-
(1998)
Nature
, vol.393
, pp. 276-280
-
-
Li, D.1
Brooke, B.2
Davis, E.3
-
291
-
-
0029041420
-
The human calcitonin receptor gene (CALCR) at 7q21.3 is outside the deletion associated with the Williams syndrome
-
Perez Jurado L.A., Li X., Francke U. The human calcitonin receptor gene (CALCR) at 7q21.3 is outside the deletion associated with the Williams syndrome. Cytogenet Cell Genet 1995, 70:246-249.
-
(1995)
Cytogenet Cell Genet
, vol.70
, pp. 246-249
-
-
Perez Jurado, L.A.1
Li, X.2
Francke, U.3
-
292
-
-
79961102329
-
Mutations in CYP24A1 and idiopathic infantile hypercalcemia
-
Schlingmann K.P., Kaufmann M., Weber S., et al. Mutations in CYP24A1 and idiopathic infantile hypercalcemia. N Engl J Med 2011, 365:410-421.
-
(2011)
N Engl J Med
, vol.365
, pp. 410-421
-
-
Schlingmann, K.P.1
Kaufmann, M.2
Weber, S.3
-
293
-
-
84856778061
-
Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia
-
Dauber A., Nguyen T.T., Sochett E., et al. Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia. J Clin Endocrinol Metab 2012, 97:E268-E274.
-
(2012)
J Clin Endocrinol Metab
, vol.97
, pp. E268-E274
-
-
Dauber, A.1
Nguyen, T.T.2
Sochett, E.3
-
294
-
-
84872596772
-
Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene
-
Fencl F., Blahova K., Schlingmann K.P., et al. Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene. Eur J Pediatr 2013, 172:45-49.
-
(2013)
Eur J Pediatr
, vol.172
, pp. 45-49
-
-
Fencl, F.1
Blahova, K.2
Schlingmann, K.P.3
-
295
-
-
84863229578
-
Hypercalcemia, hypercalciuria, and elevated calcitriol concentrations with autosomal dominant transmission due to CYP24A1 mutations: effects of ketoconazole therapy
-
Tebben P.J., Milliner D.S., Horst R.L., et al. Hypercalcemia, hypercalciuria, and elevated calcitriol concentrations with autosomal dominant transmission due to CYP24A1 mutations: effects of ketoconazole therapy. J Clin Endocrinol Metab 2012, 97:E423-E427.
-
(2012)
J Clin Endocrinol Metab
, vol.97
, pp. E423-E427
-
-
Tebben, P.J.1
Milliner, D.S.2
Horst, R.L.3
-
296
-
-
84884619944
-
Lightwood syndrome revisited with a novel mutation in CYP24 and vitamin D supplement recommendations
-
Castanet M., Mallet E., Kottler M.L. Lightwood syndrome revisited with a novel mutation in CYP24 and vitamin D supplement recommendations. J Pediatr 2013, 163:1208-1210.
-
(2013)
J Pediatr
, vol.163
, pp. 1208-1210
-
-
Castanet, M.1
Mallet, E.2
Kottler, M.L.3
-
297
-
-
0025013749
-
Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism
-
Arnold A., Horst S.A., Gardella T.J., et al. Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism. J Clin Invest 1990, 86:1084-1087.
-
(1990)
J Clin Invest
, vol.86
, pp. 1084-1087
-
-
Arnold, A.1
Horst, S.A.2
Gardella, T.J.3
-
298
-
-
0026865130
-
A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism
-
Parkinson D., Thakker R. A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism. Nat Genet 1992, 1:149-153.
-
(1992)
Nat Genet
, vol.1
, pp. 149-153
-
-
Parkinson, D.1
Thakker, R.2
-
299
-
-
0033304560
-
A Novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism
-
Sunthornthepvarakul T., Churesigaew S., Ngowngarmratana S. A Novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism. J Clin Endocrinol Metab 1999, 84:3792-3796.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 3792-3796
-
-
Sunthornthepvarakul, T.1
Churesigaew, S.2
Ngowngarmratana, S.3
-
300
-
-
84864765535
-
A novel homozygous mutation in the parathyroid hormone gene (PTH) in a girl with isolated hypoparathyroidism
-
Ertl D.A., Stary S., Streubel B., et al. A novel homozygous mutation in the parathyroid hormone gene (PTH) in a girl with isolated hypoparathyroidism. Bone 2012, 51:629-632.
-
(2012)
Bone
, vol.51
, pp. 629-632
-
-
Ertl, D.A.1
Stary, S.2
Streubel, B.3
-
301
-
-
84883676359
-
Calcium-sensing receptor autoantibodies and idiopathic hypoparathyroidism
-
Tomar N., Gupta N., Goswami R. Calcium-sensing receptor autoantibodies and idiopathic hypoparathyroidism. J Clin Endocrinol Metab 2013, 98:3884-3891.
-
(2013)
J Clin Endocrinol Metab
, vol.98
, pp. 3884-3891
-
-
Tomar, N.1
Gupta, N.2
Goswami, R.3
-
302
-
-
0028919333
-
Inefficient membrane targeting, translocation, and proteolytic processing by signal peptidase of a mutant preproparathyroid hormone protein
-
Karaplis A.C., Lim S.K., Baba H., et al. Inefficient membrane targeting, translocation, and proteolytic processing by signal peptidase of a mutant preproparathyroid hormone protein. J Biol Chem 1995, 270:1629-1635.
-
(1995)
J Biol Chem
, vol.270
, pp. 1629-1635
-
-
Karaplis, A.C.1
Lim, S.K.2
Baba, H.3
-
303
-
-
38049180869
-
Signal sequence mutation in autosomal dominant form of hypoparathyroidism induces apoptosis that is corrected by a chemical chaperone
-
Datta R., Waheed A., Shah G.N., Sly W.S. Signal sequence mutation in autosomal dominant form of hypoparathyroidism induces apoptosis that is corrected by a chemical chaperone. Proc Natl Acad Sci U S A 2007, 104:19989-19994.
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, pp. 19989-19994
-
-
Datta, R.1
Waheed, A.2
Shah, G.N.3
Sly, W.S.4
-
304
-
-
0036251217
-
Parathyroid hormone is essential for normal fetal bone formation
-
Miao D., He B., Karaplis A., Goltzman D. Parathyroid hormone is essential for normal fetal bone formation. J Clin Invest 2002, 109:1173-1182.
-
(2002)
J Clin Invest
, vol.109
, pp. 1173-1182
-
-
Miao, D.1
He, B.2
Karaplis, A.3
Goltzman, D.4
-
305
-
-
1642489091
-
Skeletal abnormalities in Pth-null mice are influenced by dietary calcium
-
Miao D., He B., Lanske B., et al. Skeletal abnormalities in Pth-null mice are influenced by dietary calcium. Endocrinology 2004, 145:2046-2053.
-
(2004)
Endocrinology
, vol.145
, pp. 2046-2053
-
-
Miao, D.1
He, B.2
Lanske, B.3
-
306
-
-
0034644149
-
Genetic ablation of parathyroid glands reveals another source of parathyroid hormone
-
Günther T., Chen Z.F., Kim J., et al. Genetic ablation of parathyroid glands reveals another source of parathyroid hormone. Nature 2000, 406:199-203.
-
(2000)
Nature
, vol.406
, pp. 199-203
-
-
Günther, T.1
Chen, Z.F.2
Kim, J.3
-
307
-
-
77955846948
-
Involvement of GCMB in the transcriptional regulation of the human parathyroid hormone gene in a parathyroid-derived cell line PT-r: effects of calcium and 1,25(OH)2D3
-
Kawahara M., Iwasaki Y., Sakaguchi K., et al. Involvement of GCMB in the transcriptional regulation of the human parathyroid hormone gene in a parathyroid-derived cell line PT-r: effects of calcium and 1,25(OH)2D3. Bone 2010, 47:534-541.
-
(2010)
Bone
, vol.47
, pp. 534-541
-
-
Kawahara, M.1
Iwasaki, Y.2
Sakaguchi, K.3
-
308
-
-
78650716158
-
Thymus-associated parathyroid hormone has two cellular origins with distinct endocrine and immunological functions
-
e1001251
-
Liu Z., Farley A., Chen L., et al. Thymus-associated parathyroid hormone has two cellular origins with distinct endocrine and immunological functions. PLoS Genet 2010, 6. e1001251.
-
(2010)
PLoS Genet
, vol.6
-
-
Liu, Z.1
Farley, A.2
Chen, L.3
-
309
-
-
0032514757
-
Isolation and characterization of mammalian homologs of the Drosophila gene glial cells missing
-
Kim J., Jones B., Zock C., et al. Isolation and characterization of mammalian homologs of the Drosophila gene glial cells missing. Proc Natl Acad Sci U S A 1998, 95:12364-12369.
-
(1998)
Proc Natl Acad Sci U S A
, vol.95
, pp. 12364-12369
-
-
Kim, J.1
Jones, B.2
Zock, C.3
-
310
-
-
34247149887
-
Gcm2 is required for the differentiation and survival of parathyroid precursor cells in the parathyroid/thymus primordia
-
Liu Z., Yu S., Manley N.R. Gcm2 is required for the differentiation and survival of parathyroid precursor cells in the parathyroid/thymus primordia. Dev Biol 2007, 305:333-346.
-
(2007)
Dev Biol
, vol.305
, pp. 333-346
-
-
Liu, Z.1
Yu, S.2
Manley, N.R.3
-
311
-
-
0035005477
-
Gcm2 and Foxn1 mark early parathyroid- and thymus-specific domains in the developing third pharyngeal pouch
-
Gordon J., Bennett A.R., Blackburn C.C., Manley N.R. Gcm2 and Foxn1 mark early parathyroid- and thymus-specific domains in the developing third pharyngeal pouch. Mech Dev 2001, 103:141-143.
-
(2001)
Mech Dev
, vol.103
, pp. 141-143
-
-
Gordon, J.1
Bennett, A.R.2
Blackburn, C.C.3
Manley, N.R.4
-
312
-
-
0035881214
-
Hoxa3 and pax1 regulate epithelial cell death and proliferation during thymus and parathyroid organogenesis
-
Su D., Ellis S., Napier A., et al. Hoxa3 and pax1 regulate epithelial cell death and proliferation during thymus and parathyroid organogenesis. Dev Biol 2001, 236:316-329.
-
(2001)
Dev Biol
, vol.236
, pp. 316-329
-
-
Su, D.1
Ellis, S.2
Napier, A.3
-
313
-
-
70349116510
-
Calcium-sensing receptor expression is regulated by glial cells missing-2 in human parathyroid cells
-
Mizobuchi M., Ritter C.S., Krits I., et al. Calcium-sensing receptor expression is regulated by glial cells missing-2 in human parathyroid cells. J Bone Miner Res 2009, 24:1173-1179.
-
(2009)
J Bone Miner Res
, vol.24
, pp. 1173-1179
-
-
Mizobuchi, M.1
Ritter, C.S.2
Krits, I.3
-
314
-
-
58349104566
-
Glial Cells Missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism
-
Canaff L., Zhou X., Mosesova I., et al. Glial Cells Missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism. Hum Mutat 2009, 30:85-92.
-
(2009)
Hum Mutat
, vol.30
, pp. 85-92
-
-
Canaff, L.1
Zhou, X.2
Mosesova, I.3
-
315
-
-
0034772381
-
Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB
-
Ding C., Buckingham B., Levine M.A. Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB. J Clin Invest 2001, 108:1215-1220.
-
(2001)
J Clin Invest
, vol.108
, pp. 1215-1220
-
-
Ding, C.1
Buckingham, B.2
Levine, M.A.3
-
316
-
-
18844413227
-
Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism
-
Baumber L., Tufarelli C., Patel S., et al. Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism. J Med Genet 2005, 42:443-448.
-
(2005)
J Med Genet
, vol.42
, pp. 443-448
-
-
Baumber, L.1
Tufarelli, C.2
Patel, S.3
-
317
-
-
51649117372
-
Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism
-
Mannstadt M., Bertrand G., Muresan M., et al. Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism. J Clin Endocrinol Metab 2008, 93:3568-3576.
-
(2008)
J Clin Endocrinol Metab
, vol.93
, pp. 3568-3576
-
-
Mannstadt, M.1
Bertrand, G.2
Muresan, M.3
-
318
-
-
77952471177
-
Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism
-
Bowl M.R., Mirczuk S.M., Grigorieva I.V., et al. Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism. Hum Mol Genet 2010, 19:2028-2038.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 2028-2038
-
-
Bowl, M.R.1
Mirczuk, S.M.2
Grigorieva, I.V.3
-
319
-
-
77954938221
-
A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism
-
Mirczuk S.M., Bowl M.R., Nesbit M.A., et al. A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism. J Clin Endocrinol Metab 2010, 95:3512-3516.
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. 3512-3516
-
-
Mirczuk, S.M.1
Bowl, M.R.2
Nesbit, M.A.3
-
320
-
-
84859644860
-
Identification and characterization of C106R, a novel mutation in the DNA-binding domain of GCMB, in a family with autosomal-dominant hypoparathyroidism
-
Yi H.S., Eom Y.S., Park Ie B., et al. Identification and characterization of C106R, a novel mutation in the DNA-binding domain of GCMB, in a family with autosomal-dominant hypoparathyroidism. Clin Endocrinol (Oxf) 2012, 76:625-633.
-
(2012)
Clin Endocrinol (Oxf)
, vol.76
, pp. 625-633
-
-
Yi, H.S.1
Eom, Y.S.2
Park Ie, B.3
-
321
-
-
0010399599
-
True idiopathic hypoparathyroidism as a sex-linked recessive trait
-
Peden V. True idiopathic hypoparathyroidism as a sex-linked recessive trait. Am J Human Genet 1960, 12:323-337.
-
(1960)
Am J Human Genet
, vol.12
, pp. 323-337
-
-
Peden, V.1
-
322
-
-
0019868775
-
Idiopathic hypoparathyroidism presenting with seizures during infancy: x-linked recessive inheritance in a large Missouri kindred
-
628-611
-
Whyte M., Weldon V. Idiopathic hypoparathyroidism presenting with seizures during infancy: x-linked recessive inheritance in a large Missouri kindred. J Pediatr 1981, 99. 628-611.
-
(1981)
J Pediatr
, vol.99
-
-
Whyte, M.1
Weldon, V.2
-
323
-
-
0022811033
-
Absence of parathyroid tissue in sex-linked recessive hypoparathyroidism
-
Whyte M., Kim G., Kosanovich M. Absence of parathyroid tissue in sex-linked recessive hypoparathyroidism. J Paediatr 1986, 109:915.
-
(1986)
J Paediatr
, vol.109
, pp. 915
-
-
Whyte, M.1
Kim, G.2
Kosanovich, M.3
-
324
-
-
0031035505
-
MtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation
-
Mumm S., Whyte M.P., Thakker R.V., et al. mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation. Am J Hum Genet 1997, 60:153-159.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 153-159
-
-
Mumm, S.1
Whyte, M.P.2
Thakker, R.V.3
-
325
-
-
0025332731
-
Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies
-
Thakker R.V., Davies K.E., Whyte M.P., et al. Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies. J Clin Invest 1990, 86:40-45.
-
(1990)
J Clin Invest
, vol.86
, pp. 40-45
-
-
Thakker, R.V.1
Davies, K.E.2
Whyte, M.P.3
-
326
-
-
26444453686
-
An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism
-
Bowl M., Nesbit M., Harding B., et al. An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism. J Clin Invest 2005, 115:2822-2831.
-
(2005)
J Clin Invest
, vol.115
, pp. 2822-2831
-
-
Bowl, M.1
Nesbit, M.2
Harding, B.3
-
327
-
-
4444236951
-
Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3
-
Solomon N.M., Ross S.A., Morgan T., et al. Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3. J Med Genet 2004, 41:669-678.
-
(2004)
J Med Genet
, vol.41
, pp. 669-678
-
-
Solomon, N.M.1
Ross, S.A.2
Morgan, T.3
-
328
-
-
1442360429
-
SOX3 is required during the formation of the hypothalamo-pituitary axis
-
Rizzoti K., Brunelli S., Carmignac D., et al. SOX3 is required during the formation of the hypothalamo-pituitary axis. Nat Genet 2004, 36:247-255.
-
(2004)
Nat Genet
, vol.36
, pp. 247-255
-
-
Rizzoti, K.1
Brunelli, S.2
Carmignac, D.3
-
329
-
-
0030039291
-
A comparison of the properties of Sox-3 with Sry and two related genes, Sox-1 and Sox-2
-
Collignon J., Sockanathan S., Hacker A., et al. A comparison of the properties of Sox-3 with Sry and two related genes, Sox-1 and Sox-2. Development 1996, 122:509-520.
-
(1996)
Development
, vol.122
, pp. 509-520
-
-
Collignon, J.1
Sockanathan, S.2
Hacker, A.3
-
330
-
-
11144339384
-
Long-range control of gene expression: emerging mechanisms and disruption in disease
-
Kleinjan D.A., van Heyningen V. Long-range control of gene expression: emerging mechanisms and disruption in disease. Am J Hum Genet 2005, 76:8-32.
-
(2005)
Am J Hum Genet
, vol.76
, pp. 8-32
-
-
Kleinjan, D.A.1
van Heyningen, V.2
-
331
-
-
0037644773
-
Expression of Sox3 throughout the developing central nervous system is dependent on the combined action of discrete, evolutionarily conserved regulatory elements
-
Brunelli S., Silva Casey E., Bell D., et al. Expression of Sox3 throughout the developing central nervous system is dependent on the combined action of discrete, evolutionarily conserved regulatory elements. Genesis 2003, 36:12-24.
-
(2003)
Genesis
, vol.36
, pp. 12-24
-
-
Brunelli, S.1
Silva Casey, E.2
Bell, D.3
-
332
-
-
0037389626
-
Functional analysis of chicken Sox2 enhancers highlights an array of diverse regulatory elements that are conserved in mammals
-
Uchikawa M., Ishida Y., Takemoto T., et al. Functional analysis of chicken Sox2 enhancers highlights an array of diverse regulatory elements that are conserved in mammals. Dev Cell 2003, 4:509-519.
-
(2003)
Dev Cell
, vol.4
, pp. 509-519
-
-
Uchikawa, M.1
Ishida, Y.2
Takemoto, T.3
-
333
-
-
17844388072
-
Sox2 is required for sensory organ development in the mammalian inner ear
-
Kiernan A.E., Pelling A.L., Leung K.K., et al. Sox2 is required for sensory organ development in the mammalian inner ear. Nature 2005, 434:1031-1035.
-
(2005)
Nature
, vol.434
, pp. 1031-1035
-
-
Kiernan, A.E.1
Pelling, A.L.2
Leung, K.K.3
-
334
-
-
0027752708
-
SOX3 is an X-linked gene related to SRY
-
Stevanovic M., Lovell-Badge R., Collignon J., Goodfellow P.N. SOX3 is an X-linked gene related to SRY. Hum Mol Genet 1993, 2:2013-2018.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 2013-2018
-
-
Stevanovic, M.1
Lovell-Badge, R.2
Collignon, J.3
Goodfellow, P.N.4
-
335
-
-
0025295238
-
Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients
-
Ahonen P., Myllarniemi S., Sipila I., Perheentupa J. Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. N Engl J Med 1990, 322:1829-1836.
-
(1990)
N Engl J Med
, vol.322
, pp. 1829-1836
-
-
Ahonen, P.1
Myllarniemi, S.2
Sipila, I.3
Perheentupa, J.4
-
336
-
-
0021807826
-
Autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy (APECED): autosomal recessive inheritance
-
Ahonen P. Autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy (APECED): autosomal recessive inheritance. Clin Genet 1985, 27:535-542.
-
(1985)
Clin Genet
, vol.27
, pp. 535-542
-
-
Ahonen, P.1
-
337
-
-
0026481974
-
Polyglandular autoimmune syndrome type I among Iranian Jews
-
Zlotogora J., Shapiro M.S. Polyglandular autoimmune syndrome type I among Iranian Jews. J Med Genet 1992, 29:824-826.
-
(1992)
J Med Genet
, vol.29
, pp. 824-826
-
-
Zlotogora, J.1
Shapiro, M.S.2
-
338
-
-
0028064998
-
An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21
-
Aaltonen J., Bjorses P., Sandkuijl L., et al. An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21. Nat Genet 1994, 8:83-87.
-
(1994)
Nat Genet
, vol.8
, pp. 83-87
-
-
Aaltonen, J.1
Bjorses, P.2
Sandkuijl, L.3
-
339
-
-
16944367194
-
Positional cloning of the APECED gene
-
Nagamine K., Peterson P., Scott H.S., et al. Positional cloning of the APECED gene. Nat Genet 1997, 17:393-398.
-
(1997)
Nat Genet
, vol.17
, pp. 393-398
-
-
Nagamine, K.1
Peterson, P.2
Scott, H.S.3
-
340
-
-
0032470812
-
A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1
-
Pearce S.H., Cheetham T., Imrie H., et al. A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1. Am J Hum Genet 1998, 63:1675-1684.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1675-1684
-
-
Pearce, S.H.1
Cheetham, T.2
Imrie, H.3
-
341
-
-
0032230236
-
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins
-
Scott H.S., Heino M., Peterson P., et al. Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins. Mol Endocrinol 1998, 12:1112-1119.
-
(1998)
Mol Endocrinol
, vol.12
, pp. 1112-1119
-
-
Scott, H.S.1
Heino, M.2
Peterson, P.3
-
342
-
-
0031753977
-
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients
-
Rosatelli M.C., Meloni A., Devoto M., et al. A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients. Hum Genet 1998, 103:428-434.
-
(1998)
Hum Genet
, vol.103
, pp. 428-434
-
-
Rosatelli, M.C.1
Meloni, A.2
Devoto, M.3
-
343
-
-
0242536432
-
Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein
-
Bjorses P., Halonen M., Palvimo J.J., et al. Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. Am J Hum Genet 2000, 66:378-392.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 378-392
-
-
Bjorses, P.1
Halonen, M.2
Palvimo, J.J.3
-
344
-
-
1642500086
-
AIRE functions as an E3 ubiquitin ligase
-
Uchida D., Hatakeyama S., Matsushima A., et al. AIRE functions as an E3 ubiquitin ligase. J Exp Med 2004, 199:167-172.
-
(2004)
J Exp Med
, vol.199
, pp. 167-172
-
-
Uchida, D.1
Hatakeyama, S.2
Matsushima, A.3
-
345
-
-
0037383758
-
Aire regulates negative selection of organ-specific T cells
-
Liston A., Lesage S., Wilson J., et al. Aire regulates negative selection of organ-specific T cells. Nat Immunol 2003, 4:350-354.
-
(2003)
Nat Immunol
, vol.4
, pp. 350-354
-
-
Liston, A.1
Lesage, S.2
Wilson, J.3
-
346
-
-
70450192681
-
AIRE activated tissue specific genes have histone modifications associated with inactive chromatin
-
Org T., Rebane A., Kisand K., et al. AIRE activated tissue specific genes have histone modifications associated with inactive chromatin. Hum Mol Genet 2009, 18:4699-4710.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 4699-4710
-
-
Org, T.1
Rebane, A.2
Kisand, K.3
-
347
-
-
33746421486
-
Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1
-
e289
-
Meager A., Visvalingam K., Peterson P., et al. Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1. PLoS Med 2006, 3. e289.
-
(2006)
PLoS Med
, vol.3
-
-
Meager, A.1
Visvalingam, K.2
Peterson, P.3
-
348
-
-
40449109084
-
Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen
-
Alimohammadi M., Bjorklund P., Hallgren A., et al. Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. N Engl J Med 2008, 358:1018-1028.
-
(2008)
N Engl J Med
, vol.358
, pp. 1018-1028
-
-
Alimohammadi, M.1
Bjorklund, P.2
Hallgren, A.3
-
349
-
-
45749111446
-
Crucial role for the Nalp3 inflammasome in the immunostimulatory properties of aluminium adjuvants
-
Eisenbarth S.C., Colegio O.R., O'Connor W., et al. Crucial role for the Nalp3 inflammasome in the immunostimulatory properties of aluminium adjuvants. Nature 2008, 453:1122-1126.
-
(2008)
Nature
, vol.453
, pp. 1122-1126
-
-
Eisenbarth, S.C.1
Colegio, O.R.2
O'Connor, W.3
-
350
-
-
65449133931
-
Aire-deficient C57BL/6 mice mimicking the common human 13-base pair deletion mutation present with only a mild autoimmune phenotype
-
Hubert F.X., Kinkel S.A., Crewther P.E., et al. Aire-deficient C57BL/6 mice mimicking the common human 13-base pair deletion mutation present with only a mild autoimmune phenotype. J Immunol 2009, 182:3902-3918.
-
(2009)
J Immunol
, vol.182
, pp. 3902-3918
-
-
Hubert, F.X.1
Kinkel, S.A.2
Crewther, P.E.3
-
351
-
-
0025796855
-
Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome
-
Scambler P.J., Carey A.H., Wyse R.K., et al. Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome. Genomics 1991, 10:201-206.
-
(1991)
Genomics
, vol.10
, pp. 201-206
-
-
Scambler, P.J.1
Carey, A.H.2
Wyse, R.K.3
-
352
-
-
0029939504
-
A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11
-
Gong W., Emanuel B.S., Collins J., et al. A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11. Hum Mol Genet 1996, 5:789-800.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 789-800
-
-
Gong, W.1
Emanuel, B.S.2
Collins, J.3
-
353
-
-
0033753819
-
The 22q11 deletion syndromes
-
Scambler P.J. The 22q11 deletion syndromes. Hum Mol Genet 2000, 9:2421-2426.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2421-2426
-
-
Scambler, P.J.1
-
354
-
-
0022868252
-
DiGeorge syndrome and 22q11 rearrangements
-
Augusseau S., Jouk S., Jalbert P., Prieur M. DiGeorge syndrome and 22q11 rearrangements. Hum Genet 1986, 74:206.
-
(1986)
Hum Genet
, vol.74
, pp. 206
-
-
Augusseau, S.1
Jouk, S.2
Jalbert, P.3
Prieur, M.4
-
355
-
-
0028998317
-
Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene
-
Budarf M.L., Collins J., Gong W., et al. Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. Nat Genet 1995, 10:269-278.
-
(1995)
Nat Genet
, vol.10
, pp. 269-278
-
-
Budarf, M.L.1
Collins, J.2
Gong, W.3
-
356
-
-
0033582626
-
A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects
-
Yamagishi H., Garg V., Matsuoka R., et al. A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. Science 1999, 283:1158-1161.
-
(1999)
Science
, vol.283
, pp. 1158-1161
-
-
Yamagishi, H.1
Garg, V.2
Matsuoka, R.3
-
357
-
-
0033598389
-
Congenital heart disease in mice deficient for the DiGeorge syndrome region
-
Lindsay E.A., Botta A., Jurecic V., et al. Congenital heart disease in mice deficient for the DiGeorge syndrome region. Nature 1999, 401:379-383.
-
(1999)
Nature
, vol.401
, pp. 379-383
-
-
Lindsay, E.A.1
Botta, A.2
Jurecic, V.3
-
358
-
-
0031713666
-
HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3
-
Magnaghi P., Roberts C., Lorain S., et al. HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3. Nat Genet 1998, 20:74-77.
-
(1998)
Nat Genet
, vol.20
, pp. 74-77
-
-
Magnaghi, P.1
Roberts, C.2
Lorain, S.3
-
359
-
-
0035098557
-
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1
-
Jerome L.A., Papaioannou V.E. DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat Genet 2001, 27:286-291.
-
(2001)
Nat Genet
, vol.27
, pp. 286-291
-
-
Jerome, L.A.1
Papaioannou, V.E.2
-
360
-
-
10744223651
-
Role of TBX1 in human del22q11.2 syndrome
-
Yagi H., Furutani Y., Hamada H., et al. Role of TBX1 in human del22q11.2 syndrome. Lancet 2003, 362:1366-1373.
-
(2003)
Lancet
, vol.362
, pp. 1366-1373
-
-
Yagi, H.1
Furutani, Y.2
Hamada, H.3
-
361
-
-
0242285684
-
DiGeorge's syndrome: a gene at last
-
Baldini A. DiGeorge's syndrome: a gene at last. Lancet 2003, 362:1342-1343.
-
(2003)
Lancet
, vol.362
, pp. 1342-1343
-
-
Baldini, A.1
-
362
-
-
33646733029
-
Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome
-
Paylor R., Glaser B., Mupo A., et al. Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. Proc Natl Acad Sci U S A 2006, 103:7729-7734.
-
(2006)
Proc Natl Acad Sci U S A
, vol.103
, pp. 7729-7734
-
-
Paylor, R.1
Glaser, B.2
Mupo, A.3
-
363
-
-
0035514706
-
Chromosomal microdeletions: dissecting del22q11 syndrome
-
Lindsay E.A. Chromosomal microdeletions: dissecting del22q11 syndrome. Nat Rev Genet 2001, 2:858-868.
-
(2001)
Nat Rev Genet
, vol.2
, pp. 858-868
-
-
Lindsay, E.A.1
-
364
-
-
33645552248
-
Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations
-
Arnold J.S., Werling U., Braunstein E.M., et al. Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations. Development 2006, 133:977-987.
-
(2006)
Development
, vol.133
, pp. 977-987
-
-
Arnold, J.S.1
Werling, U.2
Braunstein, E.M.3
-
365
-
-
33745197499
-
Tissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients
-
Arnold J.S., Braunstein E.M., Ohyama T., et al. Tissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients. Hum Mol Genet 2006, 15:1629-1639.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 1629-1639
-
-
Arnold, J.S.1
Braunstein, E.M.2
Ohyama, T.3
-
366
-
-
77955281345
-
Mesodermal Tbx1 is required for patterning the proximal mandible in mice
-
Aggarwal V.S., Carpenter C., Freyer L., et al. Mesodermal Tbx1 is required for patterning the proximal mandible in mice. Dev Biol 2010, 344:669-681.
-
(2010)
Dev Biol
, vol.344
, pp. 669-681
-
-
Aggarwal, V.S.1
Carpenter, C.2
Freyer, L.3
-
367
-
-
67649514002
-
Tbx1 and Brn4 regulate retinoic acid metabolic genes during cochlear morphogenesis
-
31
-
Braunstein E.M., Monks D.C., Aggarwal V.S., et al. Tbx1 and Brn4 regulate retinoic acid metabolic genes during cochlear morphogenesis. BMC Dev Biol 2009, 9. 31.
-
(2009)
BMC Dev Biol
, vol.9
-
-
Braunstein, E.M.1
Monks, D.C.2
Aggarwal, V.S.3
-
368
-
-
61349162254
-
Early thyroid development requires a Tbx1-Fgf8 pathway
-
Lania G., Zhang Z., Huynh T., et al. Early thyroid development requires a Tbx1-Fgf8 pathway. Dev Biol 2009, 328:109-117.
-
(2009)
Dev Biol
, vol.328
, pp. 109-117
-
-
Lania, G.1
Zhang, Z.2
Huynh, T.3
-
369
-
-
31344435609
-
TBX1, a DiGeorge syndrome candidate gene, is inhibited by retinoic acid
-
Zhang L., Zhong T., Wang Y., et al. TBX1, a DiGeorge syndrome candidate gene, is inhibited by retinoic acid. Int J Dev Biol 2006, 50:55-61.
-
(2006)
Int J Dev Biol
, vol.50
, pp. 55-61
-
-
Zhang, L.1
Zhong, T.2
Wang, Y.3
-
370
-
-
9444265974
-
Tbx1 regulates fibroblast growth factors in the anterior heart field through a reinforcing autoregulatory loop involving forkhead transcription factors
-
Hu T., Yamagishi H., Maeda J., et al. Tbx1 regulates fibroblast growth factors in the anterior heart field through a reinforcing autoregulatory loop involving forkhead transcription factors. Development 2004, 131:5491-5502.
-
(2004)
Development
, vol.131
, pp. 5491-5502
-
-
Hu, T.1
Yamagishi, H.2
Maeda, J.3
-
371
-
-
0035098557
-
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1
-
Jerome L.A., Papaioannou V.E. DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat Genet 2001, 27:286-291.
-
(2001)
Nat Genet
, vol.27
, pp. 286-291
-
-
Jerome, L.A.1
Papaioannou, V.E.2
-
372
-
-
9444242167
-
The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis
-
Kelly R.G., Jerome-Majewska L.A., Papaioannou V.E. The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis. Hum Mol Genet 2004, 13:2829-2840.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 2829-2840
-
-
Kelly, R.G.1
Jerome-Majewska, L.A.2
Papaioannou, V.E.3
-
373
-
-
0037091009
-
Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways
-
Vitelli F., Morishima M., Taddei I., et al. Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways. Hum Mol Genet 2002, 11:915-922.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 915-922
-
-
Vitelli, F.1
Morishima, M.2
Taddei, I.3
-
374
-
-
27644554787
-
Timed mutation and cell-fate mapping reveal reiterated roles of Tbx1 during embryogenesis, and a crucial function during segmentation of the pharyngeal system via regulation of endoderm expansion
-
Xu H., Cerrato F., Baldini A. Timed mutation and cell-fate mapping reveal reiterated roles of Tbx1 during embryogenesis, and a crucial function during segmentation of the pharyngeal system via regulation of endoderm expansion. Development 2005, 132:4387-4395.
-
(2005)
Development
, vol.132
, pp. 4387-4395
-
-
Xu, H.1
Cerrato, F.2
Baldini, A.3
-
375
-
-
25844503071
-
Microarray analysis detects differentially expressed genes in the pharyngeal region of mice lacking Tbx1
-
Ivins S., Lammerts van Beuren K., Roberts C., et al. Microarray analysis detects differentially expressed genes in the pharyngeal region of mice lacking Tbx1. Dev Biol 2005, 285:554-569.
-
(2005)
Dev Biol
, vol.285
, pp. 554-569
-
-
Ivins, S.1
Lammerts van Beuren, K.2
Roberts, C.3
-
376
-
-
0034963495
-
Tbx1, a DiGeorge syndrome candidate gene, is regulated by sonic hedgehog during pharyngeal arch development
-
Garg V., Yamagishi C., Hu T., et al. Tbx1, a DiGeorge syndrome candidate gene, is regulated by sonic hedgehog during pharyngeal arch development. Dev Biol 2001, 235:62-73.
-
(2001)
Dev Biol
, vol.235
, pp. 62-73
-
-
Garg, V.1
Yamagishi, C.2
Hu, T.3
-
377
-
-
0028050110
-
Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions
-
Scire G., Dallapiccola B., Iannetti P., et al. Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions. Am J Med Genet 1994, 52:478-482.
-
(1994)
Am J Med Genet
, vol.52
, pp. 478-482
-
-
Scire, G.1
Dallapiccola, B.2
Iannetti, P.3
-
378
-
-
0031180977
-
Velocardiofacial syndrome presenting as hypocalcemia in early adolescence
-
Sykes K., Bachrach L., Siegel-Bartelt J., et al. Velocardiofacial syndrome presenting as hypocalcemia in early adolescence. Arch Pediatr Adolesc Med 1997, 151:745-747.
-
(1997)
Arch Pediatr Adolesc Med
, vol.151
, pp. 745-747
-
-
Sykes, K.1
Bachrach, L.2
Siegel-Bartelt, J.3
-
379
-
-
0025852989
-
DiGeorge anomaly associated with 10p deletion
-
Monaco G., Pignata C., Rossi E., et al. DiGeorge anomaly associated with 10p deletion. Am J Med Genet 1991, 39:215-216.
-
(1991)
Am J Med Genet
, vol.39
, pp. 215-216
-
-
Monaco, G.1
Pignata, C.2
Rossi, E.3
-
380
-
-
12244273279
-
Genetic and comparative mapping of genes dysregulated in mouse hearts lacking the Hand2 transcription factor gene
-
Villanueva M.P., Aiyer A.R., Muller S., et al. Genetic and comparative mapping of genes dysregulated in mouse hearts lacking the Hand2 transcription factor gene. Genomics 2002, 80:593-600.
-
(2002)
Genomics
, vol.80
, pp. 593-600
-
-
Villanueva, M.P.1
Aiyer, A.R.2
Muller, S.3
-
381
-
-
0026728345
-
Autosomal dominant familial hypoparathyroidism, sensineural deafness and renal dysplasia
-
Bilous R., Murty G., Parkinson D., et al. Autosomal dominant familial hypoparathyroidism, sensineural deafness and renal dysplasia. N Engl J Med 1992, 327:1069-1084.
-
(1992)
N Engl J Med
, vol.327
, pp. 1069-1084
-
-
Bilous, R.1
Murty, G.2
Parkinson, D.3
-
382
-
-
0034721115
-
GATA3 haplo-insufficiency causes human HDR syndrome
-
Van Esch H., Groenen P., Nesbit M.A., et al. GATA3 haplo-insufficiency causes human HDR syndrome. Nature 2000, 406:419-422.
-
(2000)
Nature
, vol.406
, pp. 419-422
-
-
Van Esch, H.1
Groenen, P.2
Nesbit, M.A.3
-
383
-
-
0034979425
-
GATA3 abnormalities and the phenotypic spectrum of HDR syndrome
-
Muroya K., Hasegawa T., Ito Y., et al. GATA3 abnormalities and the phenotypic spectrum of HDR syndrome. J Med Genet 2001, 38:374-380.
-
(2001)
J Med Genet
, vol.38
, pp. 374-380
-
-
Muroya, K.1
Hasegawa, T.2
Ito, Y.3
-
384
-
-
2542471328
-
Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome
-
Nesbit M.A., Bowl M.R., Harding B., et al. Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome. J Biol Chem 2004, 279:22624-22634.
-
(2004)
J Biol Chem
, vol.279
, pp. 22624-22634
-
-
Nesbit, M.A.1
Bowl, M.R.2
Harding, B.3
-
385
-
-
33847303673
-
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor
-
Ali A., Christie P.T., Grigorieva I.V., et al. Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor. Hum Mol Genet 2007, 16:265-275.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 265-275
-
-
Ali, A.1
Christie, P.T.2
Grigorieva, I.V.3
-
386
-
-
0031472234
-
FOG, a multitype zinc finger protein, acts as a cofactor for transcription factor GATA-1 in erythroid and megakaryocytic differentiation
-
Tsang A.P., Visvader J.E., Turner C.A., et al. FOG, a multitype zinc finger protein, acts as a cofactor for transcription factor GATA-1 in erythroid and megakaryocytic differentiation. Cell 1997, 90:109-119.
-
(1997)
Cell
, vol.90
, pp. 109-119
-
-
Tsang, A.P.1
Visvader, J.E.2
Turner, C.A.3
-
387
-
-
20244388392
-
Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome
-
Zahirieh A., Nesbit M.A., Ali A., et al. Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome. J Clin Endocrinol Metab 2005, 90:2445-2450.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 2445-2450
-
-
Zahirieh, A.1
Nesbit, M.A.2
Ali, A.3
-
388
-
-
70349923432
-
A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome
-
Gaynor K.U., Grigorieva I.V., Nesbit M.A., et al. A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome. J Clin Endocrinol Metab 2009, 94:3897-3904.
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 3897-3904
-
-
Gaynor, K.U.1
Grigorieva, I.V.2
Nesbit, M.A.3
-
389
-
-
0035813095
-
P300 Functions as a coactivator of transcription factor GATA-4
-
Dai Y.S., Markham B.E. p300 Functions as a coactivator of transcription factor GATA-4. J Biol Chem 2001, 276:37178-37185.
-
(2001)
J Biol Chem
, vol.276
, pp. 37178-37185
-
-
Dai, Y.S.1
Markham, B.E.2
-
390
-
-
34247249253
-
Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations
-
Hernandez A.M., Villamar M., Rosello L., et al. Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations. Am J Med Genet A 2007, 143:757-762.
-
(2007)
Am J Med Genet A
, vol.143
, pp. 757-762
-
-
Hernandez, A.M.1
Villamar, M.2
Rosello, L.3
-
391
-
-
81155161813
-
A new case of HDR syndrome with severe female genital tract malformation: comment on "Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations" by Hernandez et al.
-
Moldovan O., Carvalho R., Jorge Z., Medeira A. A new case of HDR syndrome with severe female genital tract malformation: comment on "Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations" by Hernandez et al. Am J Med Genet A 2011, 155A:2329-2330.
-
(2011)
Am J Med Genet A
, vol.155 A
, pp. 2329-2330
-
-
Moldovan, O.1
Carvalho, R.2
Jorge, Z.3
Medeira, A.4
-
392
-
-
0029087975
-
Targeted disruption of the GATA3 gene causes severe abnormalities in the nervous system and in fetal liver haematopoiesis
-
Pandolfi P.P., Roth M.E., Karis A., et al. Targeted disruption of the GATA3 gene causes severe abnormalities in the nervous system and in fetal liver haematopoiesis. Nat Genet 1995, 11:40-44.
-
(1995)
Nat Genet
, vol.11
, pp. 40-44
-
-
Pandolfi, P.P.1
Roth, M.E.2
Karis, A.3
-
393
-
-
2342545537
-
Hearing loss following Gata3 haploinsufficiency is caused by cochlear disorder
-
van der Wees J., van Looij M.A., de Ruiter M.M., et al. Hearing loss following Gata3 haploinsufficiency is caused by cochlear disorder. Neurobiol Dis 2004, 16:169-178.
-
(2004)
Neurobiol Dis
, vol.16
, pp. 169-178
-
-
van der Wees, J.1
van Looij, M.A.2
de Ruiter, M.M.3
-
394
-
-
27744434077
-
GATA3 haploinsufficiency causes a rapid deterioration of distortion product otoacoustic emissions (DPOAEs) in mice
-
van Looij M.A., van der Burg H., van der Giessen R.S., et al. GATA3 haploinsufficiency causes a rapid deterioration of distortion product otoacoustic emissions (DPOAEs) in mice. Neurobiol Dis 2005, 20:890-897.
-
(2005)
Neurobiol Dis
, vol.20
, pp. 890-897
-
-
van Looij, M.A.1
van der Burg, H.2
van der Giessen, R.S.3
-
395
-
-
77953212863
-
Gata3-deficient mice develop parathyroid abnormalities due to dysregulation of the parathyroid-specific transcription factor Gcm2
-
Grigorieva I.V., Mirczuk S., Gaynor K.U., et al. Gata3-deficient mice develop parathyroid abnormalities due to dysregulation of the parathyroid-specific transcription factor Gcm2. J Clin Invest 2010, 120:2144-2155.
-
(2010)
J Clin Invest
, vol.120
, pp. 2144-2155
-
-
Grigorieva, I.V.1
Mirczuk, S.2
Gaynor, K.U.3
-
396
-
-
0026728345
-
Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia
-
Bilous R., Murty G., Parkinson D., et al. Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia. N Engl J Med 1992, 327:1069-1074.
-
(1992)
N Engl J Med
, vol.327
, pp. 1069-1074
-
-
Bilous, R.1
Murty, G.2
Parkinson, D.3
-
397
-
-
0034096902
-
Gata3 loss leads to embryonic lethality due to noradrenaline deficiency of the sympathetic nervous system
-
Lim K.C., Lakshmanan G., Crawford S.E., et al. Gata3 loss leads to embryonic lethality due to noradrenaline deficiency of the sympathetic nervous system. Nat Genet 2000, 25:209-212.
-
(2000)
Nat Genet
, vol.25
, pp. 209-212
-
-
Lim, K.C.1
Lakshmanan, G.2
Crawford, S.E.3
-
398
-
-
31644438184
-
Pax 2/8-regulated Gata 3 expression is necessary for morphogenesis and guidance of the nephric duct in the developing kidney
-
Grote D., Souabni A., Busslinger M., Bouchard M. Pax 2/8-regulated Gata 3 expression is necessary for morphogenesis and guidance of the nephric duct in the developing kidney. Development 2006, 133:53-61.
-
(2006)
Development
, vol.133
, pp. 53-61
-
-
Grote, D.1
Souabni, A.2
Busslinger, M.3
Bouchard, M.4
-
399
-
-
0024328462
-
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
-
Moraes C.T., DiMauro S., Zeviani M., et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 1989, 320:1293-1299.
-
(1989)
N Engl J Med
, vol.320
, pp. 1293-1299
-
-
Moraes, C.T.1
DiMauro, S.2
Zeviani, M.3
-
400
-
-
0025727366
-
Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes
-
Zupanc M.L., Moraes C.T., Shanske S., et al. Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes. Ann Neurol 1991, 29:680-683.
-
(1991)
Ann Neurol
, vol.29
, pp. 680-683
-
-
Zupanc, M.L.1
Moraes, C.T.2
Shanske, S.3
-
401
-
-
0027715020
-
A new point mutation associated with mitochondrial encephalomyopathy
-
Morten K.J., Cooper J.M., Brown G.K., et al. A new point mutation associated with mitochondrial encephalomyopathy. Hum Mol Genet 1993, 2:2081-2087.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 2081-2087
-
-
Morten, K.J.1
Cooper, J.M.2
Brown, G.K.3
-
402
-
-
0029796530
-
Hypoparathyroidism and insulin-dependent diabetes mellitus in a patient with Kearns-Sayre syndrome harbouring a mitochondrial DNA deletion
-
Isotani H., Fukumoto Y., Kawamura H., et al. Hypoparathyroidism and insulin-dependent diabetes mellitus in a patient with Kearns-Sayre syndrome harbouring a mitochondrial DNA deletion. Clin Endocrinol (Oxf) 1996, 45:637-641.
-
(1996)
Clin Endocrinol (Oxf)
, vol.45
, pp. 637-641
-
-
Isotani, H.1
Fukumoto, Y.2
Kawamura, H.3
-
403
-
-
0029847961
-
Hypoparathyroidism in mitochondrial trifunctional protein deficiency
-
Dionisi-Vici C., Garavaglia B., Burlina A.B., et al. Hypoparathyroidism in mitochondrial trifunctional protein deficiency. J Pediatr 1996, 129:159-162.
-
(1996)
J Pediatr
, vol.129
, pp. 159-162
-
-
Dionisi-Vici, C.1
Garavaglia, B.2
Burlina, A.B.3
-
404
-
-
0026567026
-
Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant
-
Franceschini P., Testa A., Bogetti G., et al. Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant. Am J Med Genet 1992, 42:112-116.
-
(1992)
Am J Med Genet
, vol.42
, pp. 112-116
-
-
Franceschini, P.1
Testa, A.2
Bogetti, G.3
-
406
-
-
0025114264
-
Short stature, mental retardation, and hypoparathyroidism: a new syndrome
-
Richardson R.J., Kirk J.M. Short stature, mental retardation, and hypoparathyroidism: a new syndrome. Arch Dis Child 1990, 65:1113-1117.
-
(1990)
Arch Dis Child
, vol.65
, pp. 1113-1117
-
-
Richardson, R.J.1
Kirk, J.M.2
-
407
-
-
0025963366
-
A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features
-
Sanjad S.A., Sakati N.A., Abu-Osba Y.K., et al. A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features. Arch Dis Child 1991, 66:193-196.
-
(1991)
Arch Dis Child
, vol.66
, pp. 193-196
-
-
Sanjad, S.A.1
Sakati, N.A.2
Abu-Osba, Y.K.3
-
408
-
-
0032231752
-
Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43
-
Parvari R., Hershkovitz E., Kanis A., et al. Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43. Am J Hum Genet 1998, 63:163-169.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 163-169
-
-
Parvari, R.1
Hershkovitz, E.2
Kanis, A.3
-
409
-
-
0036843239
-
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome
-
Parvari R., Hershkovitz E., Grossman N., et al. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nat Genet 2002, 32:448-452.
-
(2002)
Nat Genet
, vol.32
, pp. 448-452
-
-
Parvari, R.1
Hershkovitz, E.2
Grossman, N.3
-
411
-
-
0036842251
-
A missense mutation in Tbce causes progressive motor neuronopathy in mice
-
Martin N., Jaubert J., Gounon P., et al. A missense mutation in Tbce causes progressive motor neuronopathy in mice. Nat Genet 2002, 32:443-447.
-
(2002)
Nat Genet
, vol.32
, pp. 443-447
-
-
Martin, N.1
Jaubert, J.2
Gounon, P.3
-
412
-
-
84878878820
-
FAM111A mutations result in hypoparathyroidism and impaired skeletal development
-
Unger S., Gorna M.W., Le Bechec A., et al. FAM111A mutations result in hypoparathyroidism and impaired skeletal development. Am J Hum Genet 2013, 92:990-995.
-
(2013)
Am J Hum Genet
, vol.92
, pp. 990-995
-
-
Unger, S.1
Gorna, M.W.2
Le Bechec, A.3
-
413
-
-
84897842236
-
A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2
-
Isojima T., Doi K., Mitsui J., et al. A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2. J Bone Miner Res 2014, 29:992-998.
-
(2014)
J Bone Miner Res
, vol.29
, pp. 992-998
-
-
Isojima, T.1
Doi, K.2
Mitsui, J.3
-
414
-
-
0027241270
-
Parathyroid hormone gene analysis in autosomal hypoparathyroidism using an intragenic tetranucleotide (AAAT)n polymorphism
-
Parkinson D.B., Shaw N.J., Himsworth R.L., Thakker R.V. Parathyroid hormone gene analysis in autosomal hypoparathyroidism using an intragenic tetranucleotide (AAAT)n polymorphism. Hum Genet 1993, 91:281-284.
-
(1993)
Hum Genet
, vol.91
, pp. 281-284
-
-
Parkinson, D.B.1
Shaw, N.J.2
Himsworth, R.L.3
Thakker, R.V.4
-
415
-
-
0017658980
-
Familial nephrosis, nerve deafness, and hypoparathyroidism
-
Barakat A.Y., D'Albora J.B., Martin M.M., Jose P.A. Familial nephrosis, nerve deafness, and hypoparathyroidism. J Pediatr 1977, 91:61-64.
-
(1977)
J Pediatr
, vol.91
, pp. 61-64
-
-
Barakat, A.Y.1
D'Albora, J.B.2
Martin, M.M.3
Jose, P.A.4
-
416
-
-
0020562965
-
Autosomal or X-linked recessive syndrome of congenital lymphedema, hypoparathyroidism, nephropathy, prolapsing mitral valve, and brachytelephalangy
-
Dahlberg P.J., Borer W.Z., Newcomer K.L., Yutuc W.R. Autosomal or X-linked recessive syndrome of congenital lymphedema, hypoparathyroidism, nephropathy, prolapsing mitral valve, and brachytelephalangy. Am J Med Genet 1983, 16:99-104.
-
(1983)
Am J Med Genet
, vol.16
, pp. 99-104
-
-
Dahlberg, P.J.1
Borer, W.Z.2
Newcomer, K.L.3
Yutuc, W.R.4
-
417
-
-
0025027286
-
New findings in a patient with Dubowitz syndrome: velopharyngeal insufficiency and hypoparathyroidism
-
Lerman-Sagie T., Merlob P., Shuper A., et al. New findings in a patient with Dubowitz syndrome: velopharyngeal insufficiency and hypoparathyroidism. Am J Med Genet 1990, 37:241-243.
-
(1990)
Am J Med Genet
, vol.37
, pp. 241-243
-
-
Lerman-Sagie, T.1
Merlob, P.2
Shuper, A.3
-
419
-
-
0028074712
-
Preliminary localization of a gene for autosomal dominant hypoparathyroidism to chromosome 3q13
-
Finegold D.N., Armitage M.M., Galiani M., et al. Preliminary localization of a gene for autosomal dominant hypoparathyroidism to chromosome 3q13. Pediatr Res 1994, 36:414-417.
-
(1994)
Pediatr Res
, vol.36
, pp. 414-417
-
-
Finegold, D.N.1
Armitage, M.M.2
Galiani, M.3
-
420
-
-
10144256536
-
A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor
-
Pearce S.H., Williamson C., Kifor O., et al. A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. N Engl J Med 1996, 335:1115-1122.
-
(1996)
N Engl J Med
, vol.335
, pp. 1115-1122
-
-
Pearce, S.H.1
Williamson, C.2
Kifor, O.3
-
421
-
-
0029985394
-
Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism
-
Baron J., Winer K., Yanovski J., et al. Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism. Hum Mol Genet 1996, 5:601-606.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 601-606
-
-
Baron, J.1
Winer, K.2
Yanovski, J.3
-
422
-
-
0032906973
-
A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia
-
Okazaki R., Chikatsu N., Nakatsu M., et al. A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia. J Clin Endocrinol Metab 1999, 84:363-366.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 363-366
-
-
Okazaki, R.1
Chikatsu, N.2
Nakatsu, M.3
-
423
-
-
4544364502
-
Activating calcium-sensing receptor mutation in the mouse is associated with cataracts and ectopic calcification
-
Hough T.A., Bogani D., Cheeseman M.T., et al. Activating calcium-sensing receptor mutation in the mouse is associated with cataracts and ectopic calcification. Proc Natl Acad Sci U S A 2004, 101:13566-13571.
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 13566-13571
-
-
Hough, T.A.1
Bogani, D.2
Cheeseman, M.T.3
-
424
-
-
0033803176
-
Molecular pathology of renal chloride channels in Dent's disease and Bartter's syndrome
-
Thakker R.V. Molecular pathology of renal chloride channels in Dent's disease and Bartter's syndrome. Exp Nephrol 2000, 8:351-360.
-
(2000)
Exp Nephrol
, vol.8
, pp. 351-360
-
-
Thakker, R.V.1
-
426
-
-
0037206034
-
Association between activating mutations of calcium-sensing receptor and Bartter's syndrome
-
Watanabe S., Fukumoto S., Chang H., et al. Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. Lancet 2002, 360:692-694.
-
(2002)
Lancet
, vol.360
, pp. 692-694
-
-
Watanabe, S.1
Fukumoto, S.2
Chang, H.3
-
427
-
-
0030051024
-
Autoantibodies to the extracellular domain of the calcium sensing receptor in patients with acquired hypoparathyroidism
-
Li Y., Song Y.H., Rais N., et al. Autoantibodies to the extracellular domain of the calcium sensing receptor in patients with acquired hypoparathyroidism. J Clin Invest 1996, 97:910-914.
-
(1996)
J Clin Invest
, vol.97
, pp. 910-914
-
-
Li, Y.1
Song, Y.H.2
Rais, N.3
-
428
-
-
1442327820
-
Activating antibodies to the calcium-sensing receptor in two patients with autoimmune hypoparathyroidism
-
Kifor O., McElduff A., LeBoff M.S., et al. Activating antibodies to the calcium-sensing receptor in two patients with autoimmune hypoparathyroidism. J Clin Endocrinol Metab 2004, 89:548-556.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 548-556
-
-
Kifor, O.1
McElduff, A.2
LeBoff, M.S.3
-
429
-
-
34347271707
-
The calcium-sensing receptor is a target of autoantibodies in patients with autoimmune polyendocrine syndrome type 1
-
Gavalas N.G., Kemp E.H., Krohn K.J., et al. The calcium-sensing receptor is a target of autoantibodies in patients with autoimmune polyendocrine syndrome type 1. J Clin Endocrinol Metab 2007, 92:2107-2114.
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 2107-2114
-
-
Gavalas, N.G.1
Kemp, E.H.2
Krohn, K.J.3
-
430
-
-
77953416752
-
Mapping of human autoantibody binding sites on the calcium-sensing receptor
-
Kemp E.H., Gavalas N.G., Akhtar S., et al. Mapping of human autoantibody binding sites on the calcium-sensing receptor. J Bone Miner Res 2010, 25:132-140.
-
(2010)
J Bone Miner Res
, vol.25
, pp. 132-140
-
-
Kemp, E.H.1
Gavalas, N.G.2
Akhtar, S.3
-
431
-
-
73249130654
-
Activating autoantibodies against the calcium-sensing receptor detected in two patients with autoimmune polyendocrine syndrome type 1
-
Kemp E.H., Gavalas N.G., Krohn K.J., et al. Activating autoantibodies against the calcium-sensing receptor detected in two patients with autoimmune polyendocrine syndrome type 1. J Clin Endocrinol Metab 2009, 94:4749-4756.
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 4749-4756
-
-
Kemp, E.H.1
Gavalas, N.G.2
Krohn, K.J.3
-
432
-
-
84879378150
-
Germline mutations affecting Galpha11 in hypoparathyroidism
-
Mannstadt M., Harris M., Bravenboer B., et al. Germline mutations affecting Galpha11 in hypoparathyroidism. N Engl J Med 2013, 368:2532-2534.
-
(2013)
N Engl J Med
, vol.368
, pp. 2532-2534
-
-
Mannstadt, M.1
Harris, M.2
Bravenboer, B.3
-
433
-
-
0022000808
-
A case of lethal congenital dwarfism with accelerated skeletal maturation
-
Blomstrand S., Claësson I., Säve-Söderbergh J. A case of lethal congenital dwarfism with accelerated skeletal maturation. Pediatr Radiol 1985, 15:141-143.
-
(1985)
Pediatr Radiol
, vol.15
, pp. 141-143
-
-
Blomstrand, S.1
Claësson, I.2
Säve-Söderbergh, J.3
-
434
-
-
0027461508
-
A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia
-
Young I.D., Zuccollo J.M., Broderick N.J. A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia. J Med Genet 1993, 30:155-157.
-
(1993)
J Med Genet
, vol.30
, pp. 155-157
-
-
Young, I.D.1
Zuccollo, J.M.2
Broderick, N.J.3
-
436
-
-
0030838942
-
Familial Blomstrand Chondrodysplasia with advanced skeletal maturation: further delineation
-
Loshkajian A., Roume J., Stanescu V., et al. Familial Blomstrand Chondrodysplasia with advanced skeletal maturation: further delineation. Am J Med Genet 1997, 71:283-288.
-
(1997)
Am J Med Genet
, vol.71
, pp. 283-288
-
-
Loshkajian, A.1
Roume, J.2
Stanescu, V.3
-
438
-
-
0032079986
-
Congenital anomalies in the teratological collection of museum Vrolik in Amsterdam, The Netherlands. II: Skeletal dysplasia
-
Oostra R.J., Baljet B., Dijkstra P.F., Hennekam R.C.M. Congenital anomalies in the teratological collection of museum Vrolik in Amsterdam, The Netherlands. II: Skeletal dysplasia. Am J Med Genet 1998, 77:116-134.
-
(1998)
Am J Med Genet
, vol.77
, pp. 116-134
-
-
Oostra, R.J.1
Baljet, B.2
Dijkstra, P.F.3
Hennekam, R.C.M.4
-
439
-
-
0032128253
-
Absence of functional receptors parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia
-
Jobert A.S., Zhang P., Couvineau A., et al. Absence of functional receptors parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia. J Clin Invest 1998, 102:34-40.
-
(1998)
J Clin Invest
, vol.102
, pp. 34-40
-
-
Jobert, A.S.1
Zhang, P.2
Couvineau, A.3
-
440
-
-
0031769483
-
A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia
-
Zhang P., Jobert A.S., Couvineau A., Silve C. A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia. J Clin Endocrinol Metab 1998, 83:3365-3368.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 3365-3368
-
-
Zhang, P.1
Jobert, A.S.2
Couvineau, A.3
Silve, C.4
-
441
-
-
0031725947
-
Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand chondrodysplasia
-
Karaplis A.C., Bin He M.T., Nguyen A., et al. Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand chondrodysplasia. Endocrinology 1998, 139:5255-5258.
-
(1998)
Endocrinology
, vol.139
, pp. 5255-5258
-
-
Karaplis, A.C.1
Bin He, M.T.2
Nguyen, A.3
-
442
-
-
0033305406
-
A frame-shift mutation in the type I parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand lethal osteochondrodysplasia
-
Karperien M.C., van der Harten H.J., van Schooten R., et al. A frame-shift mutation in the type I parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand lethal osteochondrodysplasia. J Clin Endocrinol Metab 1999, 84:3713-3720.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 3713-3720
-
-
Karperien, M.C.1
van der Harten, H.J.2
van Schooten, R.3
-
443
-
-
84882501583
-
Novel mutations in the type I PTH/PTHrP receptor causing Blomstrand lethal osteochondrodysplasia (abstract)
-
Karperien M., Sips H., Harten H.V.D., et al. Novel mutations in the type I PTH/PTHrP receptor causing Blomstrand lethal osteochondrodysplasia (abstract). J Bone Mineral Res 2001, 1(16 Suppl):S549.
-
(2001)
J Bone Mineral Res
, vol.1
, Issue.16
, pp. S549
-
-
Karperien, M.1
Sips, H.2
Harten, H.V.D.3
-
444
-
-
0035035010
-
Absence of functional type 1 PTH/PTHrP receptors in humans is associated with abnormal breast development and tooth impactation
-
Wysolmerski J.J., Cormier S., Philbrick W., et al. Absence of functional type 1 PTH/PTHrP receptors in humans is associated with abnormal breast development and tooth impactation. J Clin Endocrinol Metab 2001, 86:1788-1794.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 1788-1794
-
-
Wysolmerski, J.J.1
Cormier, S.2
Philbrick, W.3
-
445
-
-
57649099735
-
PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption
-
Decker E., Stellzig-Eisenhauer A., Fiebig B.S., et al. PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption. Am J Hum Genet 2008, 83:781-786.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 781-786
-
-
Decker, E.1
Stellzig-Eisenhauer, A.2
Fiebig, B.S.3
-
446
-
-
79959518940
-
Exome resequencing combined with linkage analysis identifies novel PTH1R variants in primary failure of tooth eruption in Japanese
-
Yamaguchi T., Hosomichi K., Narita A., et al. Exome resequencing combined with linkage analysis identifies novel PTH1R variants in primary failure of tooth eruption in Japanese. J Bone Miner Res 2011, 26:1655-1661.
-
(2011)
J Bone Miner Res
, vol.26
, pp. 1655-1661
-
-
Yamaguchi, T.1
Hosomichi, K.2
Narita, A.3
-
447
-
-
75349091402
-
Primary failure of eruption and PTH1R: the importance of a genetic diagnosis for orthodontic treatment planning
-
discussion 160-161
-
Frazier-Bowers S.A., Simmons D., Wright J.T., et al. Primary failure of eruption and PTH1R: the importance of a genetic diagnosis for orthodontic treatment planning. Am J Orthod Dentofacial Orthop 2010, 137(160):e1-e7. discussion 160-161.
-
(2010)
Am J Orthod Dentofacial Orthop
, vol.137
, Issue.160
, pp. e1-e7
-
-
Frazier-Bowers, S.A.1
Simmons, D.2
Wright, J.T.3
-
448
-
-
84884234958
-
Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption
-
e74601
-
Risom L., Christoffersen L., Daugaard-Jensen J., et al. Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption. PLoS One 2013, 8. e74601.
-
(2013)
PLoS One
, vol.8
-
-
Risom, L.1
Christoffersen, L.2
Daugaard-Jensen, J.3
-
449
-
-
0002686460
-
Conditions that may be confused with rickets
-
Elsevier, New York, H.F. DeLuca, C.S. Anast (Eds.)
-
Frame B., Poznanski A.K. Conditions that may be confused with rickets. Pediatric diseases related to calcium 1980, 269-289. Elsevier, New York. H.F. DeLuca, C.S. Anast (Eds.).
-
(1980)
Pediatric diseases related to calcium
, pp. 269-289
-
-
Frame, B.1
Poznanski, A.K.2
-
450
-
-
0014514697
-
Metaphysial dysostosis. A late follow-up of the first reported case
-
de Haas W.H.D., de Boer W., Griffioen F. Metaphysial dysostosis. A late follow-up of the first reported case. J Bone Joint Surg 1969, 51B:290-299.
-
(1969)
J Bone Joint Surg
, vol.51 B
, pp. 290-299
-
-
de Haas, W.H.D.1
de Boer, W.2
Griffioen, F.3
|