-
2
-
-
57449105957
-
Endocrine functions of bone in mineral metabolism regulation
-
Quarles LD: Endocrine functions of bone in mineral metabolism regulation. J Clin Invest 2008;118: 3820-3828.
-
(2008)
J Clin Invest
, vol.118
, pp. 3820-3828
-
-
Quarles, L.D.1
-
3
-
-
0017747466
-
3 on intestinal phosphate absorption in rats with a normal vitamin D supply
-
Rizzoli R, Fleisch H, Bonjour JP: Role of 1,25-dihydroxyvitamin D3 on intestinal phosphate absorption in rats with a normal vitamin D supply. J Clin Invest 1977;60:639-647. (Pubitemid 8180867)
-
(1977)
Journal of Clinical Investigation
, vol.60
, Issue.3
, pp. 639-647
-
-
Rizzoli, R.1
Fleisch, H.2
Bonjour, J.P.3
-
4
-
-
27844501565
-
Dietary and serum phosphorus regulate fibroblast growth factor 23 expression and 1,25-dihydroxyvitamin D metabolism in mice
-
DOI 10.1210/en.2005-0777
-
Perwad F, Azam N, Zhang MY, Yamashita T, Tenenhouse HS, Portale AA: Dietary and serum phosphorus regulate fibroblast growth factor 23 expression and 1,25-dihydroxyvitamin D metabolism in mice. Endocrinology 2005;146:5358-5364. (Pubitemid 41653049)
-
(2005)
Endocrinology
, vol.146
, Issue.12
, pp. 5358-5364
-
-
Perwad, F.1
Azam, N.2
Zhang, M.Y.H.3
Yamashita, T.4
Tenenhouse, H.S.5
Portale, A.A.6
-
5
-
-
0033775213
-
Proximal tubular phosphate reabsorption: Molecular mechanisms
-
Murer H, Hernando N, Forster I, Biber J: Proximal tubular phosphate reabsorption: Molecular mechanisms. Physiol Rev 2000;80:1373-1409.
-
(2000)
Physiol Rev
, vol.80
, pp. 1373-1409
-
-
Murer, H.1
Hernando, N.2
Forster, I.3
Biber, J.4
-
6
-
-
14344279878
-
Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia
-
DOI 10.1073/pnas.101545198
-
Shimada T, Mizutani S, Muto T, Yoneya T, Hino R, Takeda S, Takeuchi Y, Fujita T, Fukumoto S, Yamashita T: Cloning and characterization of FGF-23 as a causative factor of tumor-induced osteomalacia. Proc Natl Acad Sci U S A 2001;98:6500-6505. (Pubitemid 32488266)
-
(2001)
Proceedings of the National Academy of Sciences of the United States of America
, vol.98
, Issue.11
, pp. 6500-6505
-
-
Shimada, T.1
Mizutani, S.2
Muto, T.3
Yoneya, T.4
Hino, R.5
Takeda, S.6
Takeuchi, Y.7
Fujita, T.8
Fukumoto, S.9
Yamashita, T.10
-
7
-
-
28444486604
-
3 upregulates FGF23 gene expression in bone: The final link in a renal-gastrointestinal-skeletal axis that controls phosphate transport
-
DOI 10.1152/ajpgi.00243.2005
-
Kolek OI, Hines ER, Jones MD, LeSueur LK, Lipko MA, Kiela PR, Collins JF, Haussler MR, Ghishan FK: 1alpha,25-Dihydroxyvitamin D3 upregulates FGF-23 gene expression in bone: The final link in a renal-gastrointestinal-skeletal axis that controls phosphate transport. Am J Physiol Gastrointest Liver Physiol 2005;289:G1036-G1042. (Pubitemid 41740608)
-
(2005)
American Journal of Physiology - Gastrointestinal and Liver Physiology
, vol.289
, Issue.6
-
-
Kolek, O.I.1
Hines, E.R.2
Jones, M.D.3
LeSueur, L.K.4
Lipko, M.A.5
Kiela, P.R.6
Collins, J.F.7
Haussler, M.R.8
Ghishan, F.K.9
-
8
-
-
56049106116
-
Molecular genetic and biochemical analyses of FGF-23 mutations in familial tumoral calcinosis
-
Garringer HJ, Malekpour M, Esteghamat F, Mortazavi SM, Davis SI, Farrow EG, Yu X, Arking DE, Dietz HC, White KE: Molecular genetic and biochemical analyses of FGF-23 mutations in familial tumoral calcinosis. Am J Physiol Endocrinol Metab 2008;295:E929-E937.
-
(2008)
Am J Physiol Endocrinol Metab
, vol.295
-
-
Garringer, H.J.1
Malekpour, M.2
Esteghamat, F.3
Mortazavi, S.M.4
Davis, S.I.5
Farrow, E.G.6
Yu, X.7
Arking, D.E.8
Dietz, H.C.9
White, K.E.10
-
9
-
-
2642546399
-
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis
-
DOI 10.1038/ng1358
-
Topaz O, Shurman DL, Bergman R, Indelman M, Ratajczak P, Mizrachi M, Khamaysi Z, Behar D, Petronius D, Friedman V, Zelikovic I, Raimer S, Metzker A, Richard G, Sprecher E: Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. Nat Genet 2004;36:579-581. (Pubitemid 38715983)
-
(2004)
Nature Genetics
, vol.36
, Issue.6
, pp. 579-581
-
-
Topaz, O.1
Shurman, D.L.2
Bergman, R.3
Indelman, M.4
Ratajczak, P.5
Mizrachi, M.6
Khamaysi, Z.7
Behar, D.8
Petronius, D.9
Friedman, V.10
Zelikovic, I.11
Raimer, S.12
Metzker, A.13
Richard, G.14
Sprecher, E.15
-
10
-
-
34848871595
-
A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis
-
DOI 10.1172/JCI31330
-
Ichikawa S, Imel EA, Kreiter ML, Yu X, Mackenzie DS, Sorenson AH, Goetz R, Mohammadi M, White KE, Econs MJ: A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. J Clin Invest 2007;117:2684-2691. (Pubitemid 47494368)
-
(2007)
Journal of Clinical Investigation
, vol.117
, Issue.9
, pp. 2684-2691
-
-
Ichikawa, S.1
Imel, E.A.2
Kreiter, M.L.3
Yu, X.4
Mackenzie, D.S.5
Sorenson, A.H.6
Goetz, R.7
Mohammadi, M.8
White, K.E.9
Econs, M.J.10
-
11
-
-
2142746439
-
FGF-23 is a potent regulator of vitamin D metabolism and phosphate homeostasis
-
DOI 10.1359/JBMR.0301264
-
Shimada T, Hasegawa H, Yamazaki Y, Muto T, Hino R, Takeuchi Y, Fujita T, Nakahara K, Fukumoto S, Yamashita T: FGF-23 is a potent regulator of vitamin D metabolism and phosphate homeostasis. J Bone Miner Res 2004;19:429-435. (Pubitemid 38787398)
-
(2004)
Journal of Bone and Mineral Research
, vol.19
, Issue.3
, pp. 429-435
-
-
Shimada, T.1
Hasegawa, H.2
Yamazaki, Y.3
Muto, T.4
Hino, R.5
Takeuchi, Y.6
Fujita, T.7
Nakahara, K.8
Fukumoto, S.9
Yamashita, T.10
-
12
-
-
0030724491
-
Mutation of the mouse klotho gene leads to a syndrome resembling ageing
-
DOI 10.1038/36285
-
Kuro-o M, Matsumura Y, Aizawa H, Kawaguchi H, Suga T, Utsugi T, Ohyama Y, Kurabayashi M, Kaname T, Kume E, Iwasaki H, Iida A, Shiraki-Iida T, Nishikawa S, Nagai R, Nabeshima YI: Mutation of the mouse Klotho gene leads to a syndrome resembling ageing. Nature 1997;390:45-51. (Pubitemid 27494749)
-
(1997)
Nature
, vol.390
, Issue.6655
, pp. 45-51
-
-
Kuro-o, M.1
Matsumura, Y.2
Aizawa, H.3
Kawaguchi, H.4
Suga, T.5
Utsugi, T.6
Ohyama, Y.7
Kurabayashi, M.8
Kaname, T.9
Kume, E.10
Iwasaki, H.11
Iida, A.12
Shiraki-Iida, T.13
Nishikawa, S.14
Nagai, R.15
Nabeshima, Y.-I.16
-
13
-
-
38049144010
-
Insulin stimulates the cleavage and release of the extracellular domain of Klotho by ADAM10 and ADAM17
-
Chen CD, Podvin S, Gillespie E, Leeman SE, Abraham CR: Insulin stimulates the cleavage and release of the extracellular domain of Klotho by ADAM10 and ADAM17. Proc Natl Acad Sci U S A 2007;104:19796-19801.
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, pp. 19796-19801
-
-
Chen, C.D.1
Podvin, S.2
Gillespie, E.3
Leeman, S.E.4
Abraham, C.R.5
-
14
-
-
0032567647
-
Identification of the human klotho gene and its two transcripts encoding membrane and secreted klotho protein
-
DOI 10.1006/bbrc.1997.8019
-
Matsumura Y, Aizawa H, Shiraki-Iida T, Nagai R, Kuro-o M, Nabeshima Y: Identification of the human Klotho gene and its two transcripts encoding membrane and secreted Klotho protein. Biochem Biophys Res Commun 1998;242:626-630. (Pubitemid 28412578)
-
(1998)
Biochemical and Biophysical Research Communications
, vol.242
, Issue.3
, pp. 626-630
-
-
Matsumura, Y.1
Aizawa, H.2
Shiraki-Iida, T.3
Nagai, R.4
Kuro-O, M.5
Nabeshima, Y.-I.6
-
15
-
-
27144440831
-
Cell signalling: The β-glucuronidase klotho hydrolyzes and activates the TRPV5 channel
-
DOI 10.1126/science.1114245
-
Chang Q, Hoefs S, van der Kemp AW, Topala CN, Bindels RJ, Hoenderop JG: The beta-glucuronidase Klotho hydrolyzes and activates the TRPV5 channel. Science 2005;310:490-493. (Pubitemid 41507962)
-
(2005)
Science
, vol.310
, Issue.5747
, pp. 490-493
-
-
Chang, Q.1
Hoefs, S.2
Van Der Kemp, A.W.3
Topala, C.N.4
Bindels, R.J.5
Hoenderop, J.G.6
-
16
-
-
77954567520
-
Rodriguez M FGF-23 fails to inhibit uremic parathyroid glands
-
Canalejo R, Canalejo A, Martinez-Moreno JM, Rodriguez-Ortiz ME, Estepa JC, Mendoza FJ, Munoz-Castaneda JR, Shalhoub V, Almaden Y, Rodriguez M FGF-23 fails to inhibit uremic parathyroid glands. J Am Soc Nephrol 2010;21:1125-1135.
-
(2010)
J Am Soc Nephrol
, vol.21
, pp. 1125-1135
-
-
Canalejo, R.1
Canalejo, A.2
Martinez-Moreno, J.M.3
Rodriguez-Ortiz, M.E.4
Estepa, J.C.5
Mendoza, F.J.6
Munoz-Castaneda, J.R.7
Shalhoub, V.8
Almaden, Y.9
-
17
-
-
0141864344
-
Inorganic phosphate as a signaling molecule in osteoblast differentiation
-
DOI 10.1002/jcb.10622
-
Beck GR Jr: Inorganic phosphate as a signaling molecule in osteoblast differentiation. J Cell Biochem 2003;90:234-243. (Pubitemid 37222192)
-
(2003)
Journal of Cellular Biochemistry
, vol.90
, Issue.2
, pp. 234-243
-
-
Beck Jr., G.R.1
-
18
-
-
0042665576
-
Inorganic phosphate regulates multiple genes during osteoblast differentiation, including Nrf2
-
DOI 10.1016/S0014-4827(03)00213-1
-
Beck GR Jr, Moran E, Knecht N: Inorganic phosphate regulates multiple genes during osteoblast differentiation, including Nrf2. Exp Cell Res 2003; 288:288-300. (Pubitemid 36966077)
-
(2003)
Experimental Cell Research
, vol.288
, Issue.2
, pp. 288-300
-
-
Beck Jr., G.R.1
Moran, E.2
Knecht, N.3
-
20
-
-
0033847088
-
Inorganic phosphate induces apoptosis of osteoblast-like cells in culture
-
DOI 10.1016/S8756-3282(00)00346-X, PII S875632820000346X
-
Meleti Z, Shapiro IM, Adams CS: Inorganic phosphate induces apoptosis of osteoblast-like cells in culture. Bone 2000;27:359-366. (Pubitemid 30658118)
-
(2000)
Bone
, vol.27
, Issue.3
, pp. 359-366
-
-
Meleti, Z.1
Shapiro, I.M.2
Adams, C.S.3
-
21
-
-
1642416884
-
Targeted ablation of Fgf23 demonstrates an essential physiological role of FGF23 in phosphate and vitamin D metabolism
-
DOI 10.1172/JCI200419081
-
Shimada T, Kakitani M, Yamazaki Y, Hasegawa H, Takeuchi Y, Fujita T, Fukumoto S, Tomizuka K, Yamashita T: Targeted ablation of FGF-23 demonstrates an essential physiological role of FGF-23 in phosphate and vitamin D metabolism. J Clin Invest 2004;113:561-568. (Pubitemid 38542505)
-
(2004)
Journal of Clinical Investigation
, vol.113
, Issue.4
, pp. 561-568
-
-
Shimada, T.1
Kakitani, M.2
Yamazaki, Y.3
Hasegawa, H.4
Takeuchi, Y.5
Fujita, T.6
Fukumoto, S.7
Tomizuka, K.8
Yamashita, T.9
-
22
-
-
9644303231
-
Homozygous ablation of fibroblast growth factor-23 results in hyperphosphatemia and impaired skeletogenesis, and reverses hypophosphatemia in Phex-deficient mice
-
DOI 10.1016/j.matbio.2004.09.007, PII S0945053X04001155
-
Sitara D, Razzaque MS, Hesse M, Yoganathan S, Taguchi T, Erben RG, Juppner H, Lanske B: Homozygous ablation of fibroblast growth factor-23 results in hyperphosphatemia and impaired skeletogenesis, and reverses hypophosphatemia in Phexdeficient mice. Matrix Biol 2004;23:421-432. (Pubitemid 39576657)
-
(2004)
Matrix Biology
, vol.23
, Issue.7
, pp. 421-432
-
-
Sitara, D.1
Razzaque, M.S.2
Hesse, M.3
Yoganathan, S.4
Taguchi, T.5
Erben, R.G.6
Juppner, H.7
Lanske, B.8
-
23
-
-
34547122245
-
Fibroblast growth factor-23 (FGF23) in patients with transient hypoparathyroidism: Its important role in serum phosphate regulation
-
DOI 10.1507/endocrj.K06-156
-
Yamashita H, Yamazaki Y, Hasegawa H, Yamashita T, Fukumoto S, Shigematsu T, Kazama JJ, Fukagawa M, Noguchi S: Fibroblast growth factor-23 (FGF-23) in patients with transient hypoparathyroidism: Its important role in serum phosphate regulation. Endocr J 2007;54:465-470. (Pubitemid 47105436)
-
(2007)
Endocrine Journal
, vol.54
, Issue.3
, pp. 465-470
-
-
Yamashita, H.1
Yamazaki, Y.2
Hasegawa, H.3
Yamashita, T.4
Fukumoto, S.5
Shigematsu, T.6
Kazama, J.J.7
Fukagawa, M.8
Noguchi, S.9
-
24
-
-
33747719260
-
Dietary phosphorus regulates serum fibroblast growth factor-23 concentrations in healthy men
-
DOI 10.1210/jc.2006-0021
-
Antoniucci DM, Yamashita T, Portale AA: Dietary phosphorus regulates serum fibroblast growth factor-23 concentrations in healthy men. J Clin Endocrinol Metab 2006;91:3144-3149. (Pubitemid 44271770)
-
(2006)
Journal of Clinical Endocrinology and Metabolism
, vol.91
, Issue.8
, pp. 3144-3149
-
-
Antoniucci, D.M.1
Yamashita, T.2
Portale, A.A.3
-
25
-
-
0344945402
-
Circulating concentration of FGF-23 increases as renal function declines in patients with chronic kidney disease, but does not change in response to variation in phosphate intake in healthy volunteers
-
DOI 10.1046/j.1523-1755.2003.00328.x
-
Larsson T, Nisbeth U, Ljunggren O, Juppner H, Jonsson KB: Circulating concentration of FGF-23 increases as renal function declines in patients with chronic kidney disease, but does not change in response to variation in phosphate intake in healthy volunteers. Kidney Int 2003;64:2272-2279. (Pubitemid 37449564)
-
(2003)
Kidney International
, vol.64
, Issue.6
, pp. 2272-2279
-
-
Larsson, T.1
Nisbeth, U.2
Ljunggren, O.3
Juppner, H.4
Jonsson, K.B.5
-
26
-
-
0141844575
-
Regulation of fibroblastic growth factor 23 expression but not degradation by PHEX
-
DOI 10.1074/jbc.M304544200
-
Liu S, Guo R, Simpson LG, Xiao ZS, Burnham CE, Quarles LD: Regulation of fibroblastic growth factor 23 expression but not degradation by PHEX. J Biol Chem 2003;278:37419-37426. (Pubitemid 37175262)
-
(2003)
Journal of Biological Chemistry
, vol.278
, Issue.39
, pp. 37419-37426
-
-
Liu, S.1
Guo, R.2
Simpson, L.G.3
Xiao, Z.-S.4
Burnham, C.E.5
Quarles, L.D.6
-
27
-
-
33750427897
-
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis
-
DOI 10.1038/ng1868, PII NG1868
-
Lorenz-Depiereux B, Bastepe M, Benet-Pages A, Amyere M, Wagenstaller J, Muller-Barth U, Badenhoop K, Kaiser SM, Rittmaster RS, Shlossberg AH, Olivares JL, Loris C, Ramos FJ, Glorieux F, Vikkula M, Juppner H, Strom TM: DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nat Genet 2006;38:1248-1250. (Pubitemid 44646286)
-
(2006)
Nature Genetics
, vol.38
, Issue.11
, pp. 1248-1250
-
-
Lorenz-Depiereux, B.1
Bastepe, M.2
Benet-Pages, A.3
Amyere, M.4
Wagenstaller, J.5
Muller-Barth, U.6
Badenhoop, K.7
Kaiser, S.M.8
Rittmaster, R.S.9
Shlossberg, A.H.10
Olivares, J.L.11
Loris, C.12
Ramos, F.J.13
Glorieux, F.14
Vikkula, M.15
Juppner, H.16
Strom, T.M.17
-
28
-
-
0042166167
-
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification
-
DOI 10.1038/ng1221
-
Rutsch F, Ruf N, Vaingankar S, Toliat MR, Suk A, Hohne W, Schauer G, Lehmann M, Roscioli T, Schnabel D, Epplen JT, Knisely A, Superti-Furga A, McGill J, Filippone M, Sinaiko AR, Vallance H, Hinrichs B, Smith W, Ferre M, Terkeltaub R, Nurnberg P: Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. Nat Genet 2003;34:379-381. (Pubitemid 36935330)
-
(2003)
Nature Genetics
, vol.34
, Issue.4
, pp. 379-381
-
-
Rutsch, F.1
Ruf, N.2
Vaingankar, S.3
Toliat, M.R.4
Suk, A.5
Hohne, W.6
Schauer, G.7
Lehmann, M.8
Roscioli, T.9
Schnabel, D.10
Epplen, J.T.11
Knisely, A.12
Superti-Furga, A.13
McGill, J.14
Filippone, M.15
Sinaiko, A.R.16
Vallance, H.17
Hinrichs, B.18
Smith, W.19
Ferre, M.20
Terkeltaub, R.21
Nurnberg, P.22
more..
-
29
-
-
76049105171
-
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets
-
Lorenz-Depiereux B, Schnabel D, Tiosano D, Hausler G, Strom TM: Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. Am J Hum Genet 2010;86: 267-272.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 267-272
-
-
Lorenz-Depiereux, B.1
Schnabel, D.2
Tiosano, D.3
Hausler, G.4
Strom, T.M.5
-
30
-
-
0013118819
-
The autosomal dominant hypophosphatemic rickets R176Q mutation in fibroblast growth factor 23 resists proteolytic cleavage and enhances in vivo biological potency
-
DOI 10.1074/jbc.M210490200
-
Bai XY, Miao D, Goltzman D, Karaplis AC: The autosomal dominant hypophosphatemic rickets R176Q mutation in fibroblast growth factor 23 resists proteolytic cleavage and enhances in vivo biological potency. J Biol Chem 2003;278:9843-9849. (Pubitemid 36800487)
-
(2003)
Journal of Biological Chemistry
, vol.278
, Issue.11
, pp. 9843-9849
-
-
Bai, X.-Y.1
Miao, D.2
Goltzman, D.3
Karaplis, A.C.4
-
31
-
-
85047691059
-
FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting
-
DOI 10.1172/JCI200318399
-
Riminucci M, Collins MT, Fedarko NS, Cherman N, Corsi A, White KE, Waguespack S, Gupta A, Hannon T, Econs MJ, Bianco P, Gehron Robey P: FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting. J Clin Invest 2003; 112:683-692. (Pubitemid 38057709)
-
(2003)
Journal of Clinical Investigation
, vol.112
, Issue.5
, pp. 683-692
-
-
Riminucci, M.1
Collins, M.T.2
Fedarko, N.S.3
Cherman, N.4
Corsi, A.5
White, K.E.6
Waguespack, S.7
Gupta, A.8
Hannon, T.9
Econs, M.J.10
Bianco, P.11
Robey, P.G.12
-
32
-
-
20244368616
-
Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia
-
DOI 10.1056/NEJMoa020881
-
Jonsson KB, Zahradnik R, Larsson T, White KE, Sugimoto T, Imanishi Y, Yamamoto T, Hampson G, Koshiyama H, Ljunggren O, Oba K, Yang IM, Miyauchi A, Econs MJ, Lavigne J, Juppner H: Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. N Engl J Med 2003;348:1656-1663. (Pubitemid 36459471)
-
(2003)
New England Journal of Medicine
, vol.348
, Issue.17
, pp. 1656-1663
-
-
Jonsson, K.B.1
Zahradnik, R.2
Larsson, T.3
White, K.E.4
Sugimoto, T.5
Imanishi, Y.6
Yamamoto, T.7
Hampson, G.8
Koshiyama, H.9
Ljunggren, O.10
Oba, K.11
Yang, I.M.12
Miyauchi, A.13
Econs, M.J.14
Lavigne, J.15
Juppner, H.16
-
33
-
-
85047693146
-
Secreted frizzled-related protein 4 is a potent tumor-derived phosphaturic agent
-
DOI 10.1172/JCI200318563
-
Berndt T, Craig TA, Bowe AE, Vassiliadis J, Reczek D, Finnegan R, Jan De Beur SM, Schiavi SC, Kumar R: Secreted frizzled-related protein 4 is a potent tumor-derived phosphaturic agent. J Clin Invest 2003;112:785-794. (Pubitemid 38057719)
-
(2003)
Journal of Clinical Investigation
, vol.112
, Issue.5
, pp. 785-794
-
-
Berndt, T.1
Craig, T.A.2
Bowe, A.E.3
Vassiliadis, J.4
Reczek, D.5
Finnegan, R.6
Jan De Beur, S.M.7
Schiavi, S.C.8
Kumar, R.9
-
34
-
-
0028100820
-
Primary hyperparathyroidism in a 14 year old girl presenting with bone deformities
-
Menon PS, Madhavi N, Mukhopadhyaya S, Padhy AK, Bal CS, Sharma LK: Primary hyperparathyroidism in a 14 year old girl presenting with bone deformities. J Paediatr Child Health 1994;30:441-443. (Pubitemid 24304047)
-
(1994)
Journal of Paediatrics and Child Health
, vol.30
, Issue.5
, pp. 441-443
-
-
Menon, P.S.N.1
Madhavi, N.2
Mukhopadyaya, S.3
Padhy, A.K.4
Bal, C.S.5
Sharma, L.K.6
-
35
-
-
42149130855
-
A translocation causing increased α-Klotho level results in hypophosphatemic rickets and hyperparathyroidism
-
DOI 10.1073/pnas.0712361105
-
Brownstein CA, Adler F, Nelson-Williams C, Iijima J, Li P, Imura A, Nabeshima Y, Reyes-Mugica M, Carpenter TO, Lifton RP: A translocation causing increased alpha-Klotho level results in hypophosphatemic rickets and hyperparathyroidism. Proc Natl Acad Sci U S A 2008;105:3455-3460. (Pubitemid 351723574)
-
(2008)
Proceedings of the National Academy of Sciences of the United States of America
, vol.105
, Issue.9
, pp. 3455-3460
-
-
Brownstein, C.A.1
Adler, F.2
Nelson-Williams, C.3
Iijima, J.4
Li, P.5
Imura, A.6
Nabeshima, Y.-I.7
Reyes-Mugica, M.8
Carpenter, T.O.9
Lifton, R.P.10
-
36
-
-
33746754183
-
Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi
-
DOI 10.1172/JCI28163
-
Hafner C, van Oers JM, Vogt T, Landthaler M, Stoehr R, Blaszyk H, Hofstaedter F, Zwarthoff EC, Hartmann A: Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. J Clin Invest 2006;116:2201-2207. (Pubitemid 44162329)
-
(2006)
Journal of Clinical Investigation
, vol.116
, Issue.8
, pp. 2201-2207
-
-
Hafner, C.1
Van Oers, J.M.M.2
Vogt, T.3
Landthaler, M.4
Stoehr, R.5
Blaszyk, H.6
Hofstaedter, F.7
Zwarthoff, E.C.8
Hartmann, A.9
-
37
-
-
19944430581
-
Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation
-
DOI 10.1086/427956
-
White KE, Cabral JM, Davis SI, Fishburn T, Evans WE, Ichikawa S, Fields J, Yu X, Shaw NJ, McLellan NJ, McKeown C, Fitzpatrick D, Yu K, Ornitz DM, Econs MJ: Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. Am J Hum Genet 2005;76:361-367. (Pubitemid 40129563)
-
(2005)
American Journal of Human Genetics
, vol.76
, Issue.2
, pp. 361-367
-
-
White, K.E.1
Cabral, J.M.2
Davis, S.I.3
Fishburn, T.4
Evans, W.E.5
Ichikawa, S.6
Fields, J.7
Yu, X.8
Shaw, N.J.9
McLellan, N.J.10
McKeown, C.11
FitzPatrick, D.12
Yu, K.13
Ornitz, D.M.14
Econs, M.J.15
-
38
-
-
26244454531
-
A novel mutation in fibroblast growth factor 23 gene as a cause of tumoral calcinosis
-
DOI 10.1210/jc.2005-0301
-
Araya K, Fukumoto S, Backenroth R, Takeuchi Y, Nakayama K, Ito N, Yoshii N, Yamazaki Y, Yamashita T, Silver J, Igarashi T, Fujita T: A novel mutation in fibroblast growth factor 23 gene as a cause of tumoral calcinosis. J Clin Endocrinol Metab 2005; 90:5523-5527. (Pubitemid 41415453)
-
(2005)
Journal of Clinical Endocrinology and Metabolism
, vol.90
, Issue.10
, pp. 5523-5527
-
-
Araya, K.1
Fukumoto, S.2
Backenroth, R.3
Takeuchi, Y.4
Nakayama, K.5
Ito, N.6
Yoshii, N.7
Yamazaki, Y.8
Yamashita, T.9
Silver, J.10
Igarashi, T.11
Fujita, T.12
-
39
-
-
33749576547
-
The role of mutant UDP-N-acetyl-α-D-galactosamine-polypeptide N-acetylgalactosaminyltransferase 3 in regulating serum intact fibroblast growth factor 23 and matrix extracellular phosphoglycoprotein in heritable tumoral calcinosis
-
DOI 10.1210/jc.2006-0305
-
Garringer HJ, Fisher C, Larsson TE, Davis SI, Koller DL, Cullen MJ, Draman MS, Conlon N, Jain A, Fedarko NS, Dasgupta B, White KE: The role of mutant UDP-N-acetyl-alpha-D-galactosaminepolypeptide N- acetylgalactosaminyltransferase 3 in regulating serum intact fibroblast growth factor 23 and matrix extracellular phosphoglycoprotein in heritable tumoral calcinosis. J Clin Endocrinol Metab 2006;91:4037-4042. (Pubitemid 44536883)
-
(2006)
Journal of Clinical Endocrinology and Metabolism
, vol.91
, Issue.10
, pp. 4037-4042
-
-
Garringer, H.J.1
Fisher, C.2
Larsson, T.E.3
Davis, S.I.4
Koller, D.L.5
Cullen, M.J.6
Draman, M.S.7
Conlon, N.8
Jain, A.9
Fedarko, N.S.10
Dasgupta, B.11
White, K.E.12
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