-
1
-
-
79851493370
-
Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets
-
Ruppe M.D., Brosnan P.G., Au K.S., Tran P.X., Dominguez B.W., Northrup H. Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets. Clin Endocrinol (Oxf) 2011, 74:312-318.
-
(2011)
Clin Endocrinol (Oxf)
, vol.74
, pp. 312-318
-
-
Ruppe, M.D.1
Brosnan, P.G.2
Au, K.S.3
Tran, P.X.4
Dominguez, B.W.5
Northrup, H.6
-
2
-
-
0033763097
-
Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23
-
White K.E., Evans W.E., O'Riordan J.L.H., Speer M.C., Econs M.J., Lorenz-Depiereux B. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet 2000, 26:345-348.
-
(2000)
Nat Genet
, vol.26
, pp. 345-348
-
-
White, K.E.1
Evans, W.E.2
O'Riordan, J.L.H.3
Speer, M.C.4
Econs, M.J.5
Lorenz-Depiereux, B.6
-
3
-
-
14344279878
-
Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia
-
Shimada T., Mizutani S., Muto T., Yoneya T., Hino R., Takeda S., et al. Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia. Proc Natl Acad Sci U S A 2001, 98:6500-6505.
-
(2001)
Proc Natl Acad Sci U S A
, vol.98
, pp. 6500-6505
-
-
Shimada, T.1
Mizutani, S.2
Muto, T.3
Yoneya, T.4
Hino, R.5
Takeda, S.6
-
4
-
-
17744395066
-
The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting
-
White K.E., Jonsson K.B., Carn G., Hampson G., Spector T.D., Mannstadt M., et al. The autosomal dominant hypophosphatemic rickets (ADHR) gene is a secreted polypeptide overexpressed by tumors that cause phosphate wasting. J Clin Endocrinol Metab 2001, 86:497-500.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 497-500
-
-
White, K.E.1
Jonsson, K.B.2
Carn, G.3
Hampson, G.4
Spector, T.D.5
Mannstadt, M.6
-
5
-
-
85047691059
-
FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting
-
Riminucci M., Collins M.T., Fedarko N.S., Cherman N., Corsi A., White K.E., et al. FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting. J Clin Invest 2003, 112:683-692.
-
(2003)
J Clin Invest
, vol.112
, pp. 683-692
-
-
Riminucci, M.1
Collins, M.T.2
Fedarko, N.S.3
Cherman, N.4
Corsi, A.5
White, K.E.6
-
6
-
-
9644303231
-
Homozygous ablation of fibroblast growth factor-23 results in hyperphosphatemia and impaired skeletogenesis, and reverses hypophosphatemia in Phex-deficient mice
-
Sitara D., Razzaque M.S., Hesse M., Yoganathan S., Taguchi T., Erben R.G., et al. Homozygous ablation of fibroblast growth factor-23 results in hyperphosphatemia and impaired skeletogenesis, and reverses hypophosphatemia in Phex-deficient mice. Matrix Biol 2004, 23:421-432.
-
(2004)
Matrix Biol
, vol.23
, pp. 421-432
-
-
Sitara, D.1
Razzaque, M.S.2
Hesse, M.3
Yoganathan, S.4
Taguchi, T.5
Erben, R.G.6
-
7
-
-
33745850756
-
Pathogenic role of Fgf23 in Hyp mice
-
Liu S., Zhou J., Tang W., Jiang X., Rowe D.W., Quarles L.D. Pathogenic role of Fgf23 in Hyp mice. Am J Physiol Endocrinol Metab 2006, 291:E38-E49.
-
(2006)
Am J Physiol Endocrinol Metab
, vol.291
-
-
Liu, S.1
Zhou, J.2
Tang, W.3
Jiang, X.4
Rowe, D.W.5
Quarles, L.D.6
-
8
-
-
77957376253
-
Research resource: comprehensive expression atlas of the fibroblast growth factor system in adult mouse
-
Fon Tacer K., Bookout A.L., Ding X., Kurosu H., John G.B., Wang L., et al. Research resource: comprehensive expression atlas of the fibroblast growth factor system in adult mouse. Mol Endocrinol 2010, 24:2050-2064.
-
(2010)
Mol Endocrinol
, vol.24
, pp. 2050-2064
-
-
Fon Tacer, K.1
Bookout, A.L.2
Ding, X.3
Kurosu, H.4
John, G.B.5
Wang, L.6
-
9
-
-
18444375871
-
Mutant FGF-23 responsible for autosomal dominant hypophosphatemic rickets is resistant to proteolytic cleavage and causes hypophosphatemia in vivo
-
Shimada T., Muto T., Urakawa I., Yoneya T., Yamazaki Y., Okawa K., et al. Mutant FGF-23 responsible for autosomal dominant hypophosphatemic rickets is resistant to proteolytic cleavage and causes hypophosphatemia in vivo. Endocrinology 2002, 143:3179-3182.
-
(2002)
Endocrinology
, vol.143
, pp. 3179-3182
-
-
Shimada, T.1
Muto, T.2
Urakawa, I.3
Yoneya, T.4
Yamazaki, Y.5
Okawa, K.6
-
10
-
-
3242656464
-
FGF23 is processed by proprotein convertases but not by PHEX
-
Benet-Pages A., Lorenz-Depiereux B., Zischka H., White K.E., Econs M.J., Strom T.M. FGF23 is processed by proprotein convertases but not by PHEX. Bone 2004, 35:455-462.
-
(2004)
Bone
, vol.35
, pp. 455-462
-
-
Benet-Pages, A.1
Lorenz-Depiereux, B.2
Zischka, H.3
White, K.E.4
Econs, M.J.5
Strom, T.M.6
-
11
-
-
84872857027
-
Hexa-D-arginine treatment increases 7B2-PC2 activity in hyp-mouse osteoblasts and rescues the HYP phenotype
-
Yuan B., Feng J.Q., Bowman S., Liu Y., Blank R., Lindberg I., et al. Hexa-D-arginine treatment increases 7B2-PC2 activity in hyp-mouse osteoblasts and rescues the HYP phenotype. J Bone Miner Res 2013, 28:56-72.
-
(2013)
J Bone Miner Res
, vol.28
, pp. 56-72
-
-
Yuan, B.1
Feng, J.Q.2
Bowman, S.3
Liu, Y.4
Blank, R.5
Lindberg, I.6
-
12
-
-
76249084836
-
Isolated C-terminal tail of FGF23 alleviates hypophosphatemia by inhibiting FGF23-FGFR-Klotho complex formation
-
Goetz R., Nakada Y., Hu M.C., Kurosu H., Wang L., Nakatani T., et al. Isolated C-terminal tail of FGF23 alleviates hypophosphatemia by inhibiting FGF23-FGFR-Klotho complex formation. Proc Natl Acad Sci U S A 2010, 107:407-412.
-
(2010)
Proc Natl Acad Sci U S A
, vol.107
, pp. 407-412
-
-
Goetz, R.1
Nakada, Y.2
Hu, M.C.3
Kurosu, H.4
Wang, L.5
Nakatani, T.6
-
13
-
-
33746406756
-
Regulation of C-terminal and intact FGF-23 by dietary phosphate in men and women
-
Burnett S.M., Gunawardene S.C., Bringhurst F.R., Jüppner H., Lee H., Finkelstein J.S. Regulation of C-terminal and intact FGF-23 by dietary phosphate in men and women. J Bone Miner Res 2006, 21:1187-1196.
-
(2006)
J Bone Miner Res
, vol.21
, pp. 1187-1196
-
-
Burnett, S.M.1
Gunawardene, S.C.2
Bringhurst, F.R.3
Jüppner, H.4
Lee, H.5
Finkelstein, J.S.6
-
14
-
-
70349934206
-
Effects of hPTH(1-34) infusion on circulating serum phosphate, 1,25-dihydroxyvitamin D, and FGF23 levels in healthy men
-
Burnett-Bowie S.M., Henao M.P., Dere M.E., Lee H., Leder B.Z. Effects of hPTH(1-34) infusion on circulating serum phosphate, 1,25-dihydroxyvitamin D, and FGF23 levels in healthy men. J Bone Miner Res 2009, 24:1681-1685.
-
(2009)
J Bone Miner Res
, vol.24
, pp. 1681-1685
-
-
Burnett-Bowie, S.M.1
Henao, M.P.2
Dere, M.E.3
Lee, H.4
Leder, B.Z.5
-
15
-
-
33747719260
-
Dietary phosphorus regulates serum fibroblast growth factor-23 concentrations in healthy men
-
Antoniucci D.M., Yamashita T., Portale A.A. Dietary phosphorus regulates serum fibroblast growth factor-23 concentrations in healthy men. J Clin Endocrinol Metab 2006, 91:3144-3149.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 3144-3149
-
-
Antoniucci, D.M.1
Yamashita, T.2
Portale, A.A.3
-
16
-
-
77955110868
-
Fibroblast growth factor 23 in hemodialysis patients: effects of phosphate binder, calcitriol and calcium concentration in the dialysate
-
Cancela A.L., Oliveira R.B., Graciolli F.G., dos Reis L.M., Barreto F., Barreto D.V., et al. Fibroblast growth factor 23 in hemodialysis patients: effects of phosphate binder, calcitriol and calcium concentration in the dialysate. Nephron Clin Pract 2011, 117:c74-c82.
-
(2011)
Nephron Clin Pract
, vol.117
-
-
Cancela, A.L.1
Oliveira, R.B.2
Graciolli, F.G.3
dos Reis, L.M.4
Barreto, F.5
Barreto, D.V.6
-
17
-
-
33947192418
-
1,25-Dihydroxyvitamin D3/VDR-mediated induction of FGF23 as well as transcriptional control of other bone anabolic and catabolic genes that orchestrate the regulation of phosphate and calcium mineral metabolism
-
Barthel T.K., Mathern D.R., Whitfield G.K., Haussler C.A., Hopper H.A., Hsieh J.C., et al. 1,25-Dihydroxyvitamin D3/VDR-mediated induction of FGF23 as well as transcriptional control of other bone anabolic and catabolic genes that orchestrate the regulation of phosphate and calcium mineral metabolism. J Steroid Biochem Mol Biol 2007, 103:381-388.
-
(2007)
J Steroid Biochem Mol Biol
, vol.103
, pp. 381-388
-
-
Barthel, T.K.1
Mathern, D.R.2
Whitfield, G.K.3
Haussler, C.A.4
Hopper, H.A.5
Hsieh, J.C.6
-
18
-
-
80052303008
-
Parathyroid hormone receptor signaling in osteocytes increases the expression of fibroblast growth factor-23 in vitro and in vivo
-
Rhee Y., Bivi N., Farrow E., Lezcano V., Plotkin L.I., White K.E., et al. Parathyroid hormone receptor signaling in osteocytes increases the expression of fibroblast growth factor-23 in vitro and in vivo. Bone 2011, 49:636-643.
-
(2011)
Bone
, vol.49
, pp. 636-643
-
-
Rhee, Y.1
Bivi, N.2
Farrow, E.3
Lezcano, V.4
Plotkin, L.I.5
White, K.E.6
-
19
-
-
77957993384
-
PTH increases FGF23 gene expression and mediates the high-FGF23 levels of experimental kidney failure: a bone parathyroid feedback loop
-
Lavi-Moshayoff V., Wasserman G., Meir T., Silver J., Naveh-Many T. PTH increases FGF23 gene expression and mediates the high-FGF23 levels of experimental kidney failure: a bone parathyroid feedback loop. Am J Physiol Renal Physiol 2010, 299:F882-F889.
-
(2010)
Am J Physiol Renal Physiol
, vol.299
-
-
Lavi-Moshayoff, V.1
Wasserman, G.2
Meir, T.3
Silver, J.4
Naveh-Many, T.5
-
20
-
-
84863402820
-
(1-34) Parathyroid hormone infusion acutely lowers fibroblast growth factor 23 concentrations in adult volunteers
-
Gutierrez O.M., Smith K.T., Barchi-Chung A., Patel N.M., Isakova T., Wolf M. (1-34) Parathyroid hormone infusion acutely lowers fibroblast growth factor 23 concentrations in adult volunteers. Clin J Am Soc Nephrol 2012, 7:139-145.
-
(2012)
Clin J Am Soc Nephrol
, vol.7
, pp. 139-145
-
-
Gutierrez, O.M.1
Smith, K.T.2
Barchi-Chung, A.3
Patel, N.M.4
Isakova, T.5
Wolf, M.6
-
21
-
-
33750427897
-
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis
-
Lorenz-Depiereux B., Bastepe M., Benet-Pages A., Amyere M., Wagenstaller J., Muller-Barth U., et al. DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nat Genet 2006, 38:1248-1250.
-
(2006)
Nat Genet
, vol.38
, pp. 1248-1250
-
-
Lorenz-Depiereux, B.1
Bastepe, M.2
Benet-Pages, A.3
Amyere, M.4
Wagenstaller, J.5
Muller-Barth, U.6
-
22
-
-
33750454816
-
Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism
-
Feng J.Q., Ward L.M., Liu S., Lu Y., Xie Y., Yuan B., et al. Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism. Nat Genet 2006, 38:1310-1315.
-
(2006)
Nat Genet
, vol.38
, pp. 1310-1315
-
-
Feng, J.Q.1
Ward, L.M.2
Liu, S.3
Lu, Y.4
Xie, Y.5
Yuan, B.6
-
23
-
-
52649142085
-
Pathogenic role of Fgf23 in Dmp1-null mice
-
Liu S., Zhou J., Tang W., Menard R., Feng J.Q., Quarles L.D. Pathogenic role of Fgf23 in Dmp1-null mice. Am J Physiol Endocrinol Metab 2008, 295:E254-E261.
-
(2008)
Am J Physiol Endocrinol Metab
, vol.295
-
-
Liu, S.1
Zhou, J.2
Tang, W.3
Menard, R.4
Feng, J.Q.5
Quarles, L.D.6
-
24
-
-
79251530211
-
The biological function of DMP-1 in osteocyte maturation is mediated by its 57-kDa C-terminal fragment
-
Lu Y., Yuan B., Qin C., Cao Z., Xie Y., Dallas S.L., et al. The biological function of DMP-1 in osteocyte maturation is mediated by its 57-kDa C-terminal fragment. J Bone Miner Res 2011, 26:331-340.
-
(2011)
J Bone Miner Res
, vol.26
, pp. 331-340
-
-
Lu, Y.1
Yuan, B.2
Qin, C.3
Cao, Z.4
Xie, Y.5
Dallas, S.L.6
-
25
-
-
18744371012
-
Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia
-
Yamazaki Y., Okazaki R., Shibata M., Hasegawa Y., Satoh K., Tajima T., et al. Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia. J Clin Endocrinol Metab 2002, 87:4957-4960.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 4957-4960
-
-
Yamazaki, Y.1
Okazaki, R.2
Shibata, M.3
Hasegawa, Y.4
Satoh, K.5
Tajima, T.6
-
26
-
-
80051687775
-
Bone proteins PHEX and DMP1 regulate fibroblastic growth factor Fgf23 expression in osteocytes through a common pathway involving FGF receptor (FGFR) signaling
-
Martin A., Liu S., David V., Li H., Karydis A., Feng J.Q., et al. Bone proteins PHEX and DMP1 regulate fibroblastic growth factor Fgf23 expression in osteocytes through a common pathway involving FGF receptor (FGFR) signaling. FASEB J 2011, 25:2551-2562.
-
(2011)
FASEB J
, vol.25
, pp. 2551-2562
-
-
Martin, A.1
Liu, S.2
David, V.3
Li, H.4
Karydis, A.5
Feng, J.Q.6
-
27
-
-
80053211073
-
FGF receptors control vitamin D and phosphate homeostasis by mediating renal FGF-23 signaling and regulating FGF-23 expression in bone
-
Wohrle S., Bonny O., Beluch N., Gaulis S., Stamm C., Scheibler M., et al. FGF receptors control vitamin D and phosphate homeostasis by mediating renal FGF-23 signaling and regulating FGF-23 expression in bone. J Bone Miner Res 2011, 26:2486-2497.
-
(2011)
J Bone Miner Res
, vol.26
, pp. 2486-2497
-
-
Wohrle, S.1
Bonny, O.2
Beluch, N.3
Gaulis, S.4
Stamm, C.5
Scheibler, M.6
-
28
-
-
80655147297
-
Iron modifies plasma FGF23 differently in autosomal dominant hypophosphatemic rickets and healthy humans
-
Imel E.A., Peacock M., Gray A.K., Padgett L.R., Hui S.L., Econs M.J. Iron modifies plasma FGF23 differently in autosomal dominant hypophosphatemic rickets and healthy humans. J Clin Endocrinol Metab 2011, 96:3541-3549.
-
(2011)
J Clin Endocrinol Metab
, vol.96
, pp. 3541-3549
-
-
Imel, E.A.1
Peacock, M.2
Gray, A.K.3
Padgett, L.R.4
Hui, S.L.5
Econs, M.J.6
-
29
-
-
81755163635
-
Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice
-
Farrow E.G., Yu X., Summers L.J., Davis S.I., Fleet J.C., Allen M.R., et al. Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice. Proc Natl Acad Sci U S A 2011, 108:E1146-E1155.
-
(2011)
Proc Natl Acad Sci U S A
, vol.108
-
-
Farrow, E.G.1
Yu, X.2
Summers, L.J.3
Davis, S.I.4
Fleet, J.C.5
Allen, M.R.6
-
30
-
-
84859886970
-
Mechanism of FGF23 processing in fibrous dysplasia
-
Bhattacharyya N., Wiench M., Dumitrescu C., Connolly B.M., Bugge T.H., Patel H.V., et al. Mechanism of FGF23 processing in fibrous dysplasia. J Bone Miner Res 2012, 27:1132-1141.
-
(2012)
J Bone Miner Res
, vol.27
, pp. 1132-1141
-
-
Bhattacharyya, N.1
Wiench, M.2
Dumitrescu, C.3
Connolly, B.M.4
Bugge, T.H.5
Patel, H.V.6
-
31
-
-
26844564690
-
Analysis of the biochemical mechanisms for the endocrine actions of fibroblast growth factor-23
-
Yu X., Ibrahimi O.A., Goetz R., Zhang F., Davis S.I., Garringer H.J., et al. Analysis of the biochemical mechanisms for the endocrine actions of fibroblast growth factor-23. Endocrinology 2005, 146:4647-4656.
-
(2005)
Endocrinology
, vol.146
, pp. 4647-4656
-
-
Yu, X.1
Ibrahimi, O.A.2
Goetz, R.3
Zhang, F.4
Davis, S.I.5
Garringer, H.J.6
-
32
-
-
33845631059
-
Klotho converts canonical FGF receptor into a specific receptor for FGF23
-
Urakawa I., Yamazaki Y., Shimada T., Iijima K., Hasegawa H., Okawa K., et al. Klotho converts canonical FGF receptor into a specific receptor for FGF23. Nature 2006, 444:770-774.
-
(2006)
Nature
, vol.444
, pp. 770-774
-
-
Urakawa, I.1
Yamazaki, Y.2
Shimada, T.3
Iijima, K.4
Hasegawa, H.5
Okawa, K.6
-
33
-
-
0030724491
-
Mutation of the mouse klotho gene leads to a syndrome resembling ageing
-
Kuro-o M., Matsumura Y., Aizawa H., Kawaguchi H., Suga T., Utsugi T., et al. Mutation of the mouse klotho gene leads to a syndrome resembling ageing. Nature 1997, 390:45-51.
-
(1997)
Nature
, vol.390
, pp. 45-51
-
-
Kuro-o, M.1
Matsumura, Y.2
Aizawa, H.3
Kawaguchi, H.4
Suga, T.5
Utsugi, T.6
-
34
-
-
1642416884
-
Targeted ablation of Fgf23 demonstrates an essential physiological role of FGF23 in phosphate and vitamin D metabolism
-
Shimada T., Kakitani M., Yamazaki Y., Hasegawa H., Takeuchi Y., Fujita T., et al. Targeted ablation of Fgf23 demonstrates an essential physiological role of FGF23 in phosphate and vitamin D metabolism. J Clin Invest 2004, 113:561-568.
-
(2004)
J Clin Invest
, vol.113
, pp. 561-568
-
-
Shimada, T.1
Kakitani, M.2
Yamazaki, Y.3
Hasegawa, H.4
Takeuchi, Y.5
Fujita, T.6
-
35
-
-
80555148939
-
FGF23 induces left ventricular hypertrophy
-
Faul C., Amaral A.P., Oskouei B., Hu M.C., Sloan A., Isakova T., et al. FGF23 induces left ventricular hypertrophy. J Clin Invest 2011, 121:4393-4408.
-
(2011)
J Clin Invest
, vol.121
, pp. 4393-4408
-
-
Faul, C.1
Amaral, A.P.2
Oskouei, B.3
Hu, M.C.4
Sloan, A.5
Isakova, T.6
-
36
-
-
77957107138
-
Altered renal FGF23-mediated activity involving MAPK and Wnt: effects of the Hyp mutation
-
Farrow E.G., Summers L.J., Schiavi S.C., McCormick J.A., Ellison D.H., White K.E. Altered renal FGF23-mediated activity involving MAPK and Wnt: effects of the Hyp mutation. J Endocrinol 2010, 207:67-75.
-
(2010)
J Endocrinol
, vol.207
, pp. 67-75
-
-
Farrow, E.G.1
Summers, L.J.2
Schiavi, S.C.3
McCormick, J.A.4
Ellison, D.H.5
White, K.E.6
-
37
-
-
0042830485
-
Effect of hydrolysis-resistant FGF23-R179Q on dietary phosphate regulation of the renal type-II Na/Pi transporter
-
Segawa H., Kawakami E., Kaneko I., Kuwahata M., Ito M., Kusano K., et al. Effect of hydrolysis-resistant FGF23-R179Q on dietary phosphate regulation of the renal type-II Na/Pi transporter. Pflugers Arch 2003, 446:585-592.
-
(2003)
Pflugers Arch
, vol.446
, pp. 585-592
-
-
Segawa, H.1
Kawakami, E.2
Kaneko, I.3
Kuwahata, M.4
Ito, M.5
Kusano, K.6
-
38
-
-
9244240970
-
Transgenic mice overexpressing human fibroblast growth factor 23 (R176Q) delineate a putative role for parathyroid hormone in renal phosphate wasting disorders
-
Bai X., Miao D., Li J., Goltzman D., Karaplis A.C. Transgenic mice overexpressing human fibroblast growth factor 23 (R176Q) delineate a putative role for parathyroid hormone in renal phosphate wasting disorders. Endocrinology 2004, 145:5269-5279.
-
(2004)
Endocrinology
, vol.145
, pp. 5269-5279
-
-
Bai, X.1
Miao, D.2
Li, J.3
Goltzman, D.4
Karaplis, A.C.5
-
39
-
-
2142746439
-
FGF-23 is a potent regulator of vitamin D metabolism and phosphate homeostasis
-
Shimada T., Hasegawa H., Yamazaki Y., Muto T., Hino R., Takeuchi Y., et al. FGF-23 is a potent regulator of vitamin D metabolism and phosphate homeostasis. J Bone Miner Res 2004, 19:429-435.
-
(2004)
J Bone Miner Res
, vol.19
, pp. 429-435
-
-
Shimada, T.1
Hasegawa, H.2
Yamazaki, Y.3
Muto, T.4
Hino, R.5
Takeuchi, Y.6
-
40
-
-
0028858407
-
Parathyroid cell proliferation in normal and chronic renal failure rats. The effects of calcium, phosphate, and vitamin D
-
Naveh-Many T., Rahamimov R., Livni N., Silver J. Parathyroid cell proliferation in normal and chronic renal failure 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
Rahamimov, R.2
Livni, N.3
Silver, J.4
-
41
-
-
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
-
42
-
-
0031664886
-
High phosphate level directly stimulates parathyroid hormone secretion and synthesis by human parathyroid tissue in vitro
-
Almaden Y., Hernandez A., Torregrosa V., Canalejo A., Sabate L., Fernandez Cruz L., et al. High phosphate level directly stimulates parathyroid hormone secretion and synthesis by human parathyroid tissue in vitro. J Am Soc Nephrol 1998, 9:1845-1852.
-
(1998)
J Am Soc Nephrol
, vol.9
, pp. 1845-1852
-
-
Almaden, Y.1
Hernandez, A.2
Torregrosa, V.3
Canalejo, A.4
Sabate, L.5
Fernandez Cruz, L.6
-
43
-
-
85153822688
-
Calcium regulation, calcium homeostasis, and genetic disorders of calcium metabolism
-
Saunders, Philadelphia, PA, L. De Groot, L. Jameson (Eds.)
-
Thakker R.V., Bringhurst F.R., Jüppner H.W. Calcium regulation, calcium homeostasis, and genetic disorders of calcium metabolism. Endocrinology 2010, 1136-1159. Saunders, Philadelphia, PA. 6th ed. L. De Groot, L. Jameson (Eds.).
-
(2010)
Endocrinology
, pp. 1136-1159
-
-
Thakker, R.V.1
Bringhurst, F.R.2
Jüppner, H.W.3
-
44
-
-
0026344131
-
A G protein-linked receptor for parathyroid hormone and parathyroid hormone-related peptide
-
Jüppner H., Abou-Samra A.B., Freeman M., Kong X.F., Schipani E., Richards J., 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.3
Kong, X.F.4
Schipani, E.5
Richards, J.6
-
45
-
-
33750203846
-
Proximal tubular handling of phosphate: a molecular perspective
-
Forster I.C., Hernando N., Biber J., Murer H. Proximal tubular handling of phosphate: a molecular perspective. Kidney Int 2006, 70:1548-1559.
-
(2006)
Kidney Int
, vol.70
, pp. 1548-1559
-
-
Forster, I.C.1
Hernando, N.2
Biber, J.3
Murer, H.4
-
46
-
-
79958182720
-
Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance
-
Linglart A., Menguy C., Couvineau A., Auzan C., Gunes Y., Cancel M., 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
Auzan, C.4
Gunes, Y.5
Cancel, M.6
-
47
-
-
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., Price H., Farrow E.G., White K.E., 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
Price, H.4
Farrow, E.G.5
White, K.E.6
-
48
-
-
0035058573
-
Renal phosphate wasting in fibrous dysplasia of bone is part of a generalized renal tubular dysfunction similar to that seen in tumor-induced osteomalacia
-
Collins M.T., Chebli C., Jones J., Kushner H., Consugar M., Rinaldo P., et al. Renal phosphate wasting in fibrous dysplasia of bone is part of a generalized renal tubular dysfunction similar to that seen in tumor-induced osteomalacia. J Bone Miner Res 2001, 16:806-813.
-
(2001)
J Bone Miner Res
, vol.16
, pp. 806-813
-
-
Collins, M.T.1
Chebli, C.2
Jones, J.3
Kushner, H.4
Consugar, M.5
Rinaldo, P.6
-
49
-
-
17844406661
-
GNAS locus and pseudohypoparathyroidism
-
Bastepe M., Jüppner H. GNAS locus and pseudohypoparathyroidism. Horm Res 2005, 63:65-74.
-
(2005)
Horm Res
, vol.63
, pp. 65-74
-
-
Bastepe, M.1
Jüppner, H.2
-
50
-
-
34748860260
-
Early lethality in Hyp mice with targeted deletion of Pth gene
-
Bai X., Miao D., Goltzman D., Karaplis A.C. Early lethality in Hyp mice with targeted deletion of Pth gene. Endocrinology 2007, 148:4974-4983.
-
(2007)
Endocrinology
, vol.148
, pp. 4974-4983
-
-
Bai, X.1
Miao, D.2
Goltzman, D.3
Karaplis, A.C.4
-
51
-
-
77951920659
-
Regulation of phosphate homeostasis by PTH, vitamin D, and FGF23
-
Bergwitz C., Jüppner H. Regulation of phosphate homeostasis by PTH, vitamin D, and FGF23. Annu Rev Med 2010, 61:91-104.
-
(2010)
Annu Rev Med
, vol.61
, pp. 91-104
-
-
Bergwitz, C.1
Jüppner, H.2
-
52
-
-
4544357727
-
FGF-23 is elevated by chronic hyperphosphatemia
-
Gupta A., Winer K., Econs M.J., Marx S.J., Collins M.T. FGF-23 is elevated by chronic hyperphosphatemia. J Clin Endocrinol Metab 2004, 89:4489-4492.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 4489-4492
-
-
Gupta, A.1
Winer, K.2
Econs, M.J.3
Marx, S.J.4
Collins, M.T.5
-
53
-
-
34547122245
-
Fibroblast growth factor-23 (FGF23) in patients with transient hypoparathyroidism: its important role in serum phosphate regulation
-
Yamashita H., Yamazaki Y., Hasegawa H., Yamashita T., Fukumoto S., Shigematsu T., et al. Fibroblast growth factor-23 (FGF23) in patients with transient hypoparathyroidism: its important role in serum phosphate regulation. Endocr J 2007, 54:465-470.
-
(2007)
Endocr J
, vol.54
, pp. 465-470
-
-
Yamashita, H.1
Yamazaki, Y.2
Hasegawa, H.3
Yamashita, T.4
Fukumoto, S.5
Shigematsu, T.6
-
54
-
-
80051979062
-
FGF-23/Klotho signaling is not essential for the phosphaturic and anabolic functions of PTH
-
Yuan Q., Sato T., Densmore M., Saito H., Schuler C., Erben R.G., et al. FGF-23/Klotho signaling is not essential for the phosphaturic and anabolic functions of PTH. J Bone Miner Res 2011, 26:2026-2035.
-
(2011)
J Bone Miner Res
, vol.26
, pp. 2026-2035
-
-
Yuan, Q.1
Sato, T.2
Densmore, M.3
Saito, H.4
Schuler, C.5
Erben, R.G.6
-
55
-
-
34447514029
-
Vitamin D deficiency
-
Holick M.F. Vitamin D deficiency. N Engl J Med 2007, 357:266-281.
-
(2007)
N Engl J Med
, vol.357
, pp. 266-281
-
-
Holick, M.F.1
-
56
-
-
0030759917
-
The vitamin D hormone and its nuclear receptor: molecular actions and disease states
-
Haussler M.R., Haussler C.A., Jurutka P.W., Thompson P.D., Hsieh J.C., Remus L.S., et al. The vitamin D hormone and its nuclear receptor: molecular actions and disease states. J Endocrinol 1997, 154(Suppl):S57-S73.
-
(1997)
J Endocrinol
, vol.154
, Issue.SUPPL.
-
-
Haussler, M.R.1
Haussler, C.A.2
Jurutka, P.W.3
Thompson, P.D.4
Hsieh, J.C.5
Remus, L.S.6
-
57
-
-
0024268931
-
Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets
-
Hughes M.R., Malloy P.J., Kieback D.G., Kesterson R.A., Pike J.W., Feldman D., et al. Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets. Science 1988, 242:1702-1705.
-
(1988)
Science
, vol.242
, pp. 1702-1705
-
-
Hughes, M.R.1
Malloy, P.J.2
Kieback, D.G.3
Kesterson, R.A.4
Pike, J.W.5
Feldman, D.6
-
58
-
-
33646087447
-
Intestinal phosphate absorption and the effect of vitamin D: a comparison of rats with mice
-
Marks J., Srai S.K., Biber J., Murer H., Unwin R.J., Debnam E.S. Intestinal phosphate absorption and the effect of vitamin D: a comparison of rats with mice. Exp Physiol 2006, 91:531-537.
-
(2006)
Exp Physiol
, vol.91
, pp. 531-537
-
-
Marks, J.1
Srai, S.K.2
Biber, J.3
Murer, H.4
Unwin, R.J.5
Debnam, E.S.6
-
59
-
-
72049102165
-
Intestinal npt2b plays a major role in phosphate absorption and homeostasis
-
Sabbagh Y., O'Brien S.P., Song W., Boulanger J.H., Stockmann A., Arbeeny C., et al. Intestinal npt2b plays a major role in phosphate absorption and homeostasis. J Am Soc Nephrol 2009, 20:2348-2358.
-
(2009)
J Am Soc Nephrol
, vol.20
, pp. 2348-2358
-
-
Sabbagh, Y.1
O'Brien, S.P.2
Song, W.3
Boulanger, J.H.4
Stockmann, A.5
Arbeeny, C.6
-
60
-
-
23944501314
-
Role of the vitamin D receptor in FGF23 action on phosphate metabolism
-
Inoue Y., Segawa H., Kaneko I., Yamanaka S., Kusano K., Kawakami E., et al. Role of the vitamin D receptor in FGF23 action on phosphate metabolism. Biochem J 2005, 390:325-331.
-
(2005)
Biochem J
, vol.390
, pp. 325-331
-
-
Inoue, Y.1
Segawa, H.2
Kaneko, I.3
Yamanaka, S.4
Kusano, K.5
Kawakami, E.6
-
61
-
-
0034235036
-
MEPE, a new gene expressed in bone marrow and tumors causing osteomalacia
-
Rowe P.S., de Zoysa P.A., Dong R., Wang H.R., White K.E., Econs M.J., et al. MEPE, a new gene expressed in bone marrow and tumors causing osteomalacia. Genomics 2000, 67:54-68.
-
(2000)
Genomics
, vol.67
, pp. 54-68
-
-
Rowe, P.S.1
de Zoysa, P.A.2
Dong, R.3
Wang, H.R.4
White, K.E.5
Econs, M.J.6
-
62
-
-
0036095905
-
Tumors associated with oncogenic osteomalacia express genes important in bone and mineral metabolism
-
DeBeur S.M., Finnegan R.B., Vassiliadis J., Cook B., Barberio D., Estes S., et al. Tumors associated with oncogenic osteomalacia express genes important in bone and mineral metabolism. J Bone Miner Res 2002, 17:1102-1110.
-
(2002)
J Bone Miner Res
, vol.17
, pp. 1102-1110
-
-
DeBeur, S.M.1
Finnegan, R.B.2
Vassiliadis, J.3
Cook, B.4
Barberio, D.5
Estes, S.6
-
63
-
-
14044267649
-
Fibroblast growth factor 7: an inhibitor of phosphate transport derived from oncogenic osteomalacia-causing tumors
-
Carpenter T.O., Ellis B.K., Insogna K.L., Philbrick W.M., Sterpka J., Shimkets R. Fibroblast growth factor 7: an inhibitor of phosphate transport derived from oncogenic osteomalacia-causing tumors. J Clin Endocrinol Metab 2005, 90:1012-1020.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 1012-1020
-
-
Carpenter, T.O.1
Ellis, B.K.2
Insogna, K.L.3
Philbrick, W.M.4
Sterpka, J.5
Shimkets, R.6
-
64
-
-
0037449817
-
Targeted disruption of the osteoblast/osteocyte factor 45 gene (OF45) results in increased bone formation and bone mass
-
Gowen L.C., Petersen D.N., Mansolf A.L., Qi H., Stock J.L., Tkalcevic G.T., et al. Targeted disruption of the osteoblast/osteocyte factor 45 gene (OF45) results in increased bone formation and bone mass. J Biol Chem 2003, 278:1998-2007.
-
(2003)
J Biol Chem
, vol.278
, pp. 1998-2007
-
-
Gowen, L.C.1
Petersen, D.N.2
Mansolf, A.L.3
Qi, H.4
Stock, J.L.5
Tkalcevic, G.T.6
-
65
-
-
79955403724
-
Genetic ablation of sfrp4 in mice does not affect serum phosphate homeostasis
-
Christov M., Koren S., Yuan Q., Baron R., Lanske B. Genetic ablation of sfrp4 in mice does not affect serum phosphate homeostasis. Endocrinology 2011, 152:2031-2036.
-
(2011)
Endocrinology
, vol.152
, pp. 2031-2036
-
-
Christov, M.1
Koren, S.2
Yuan, Q.3
Baron, R.4
Lanske, B.5
-
66
-
-
33747231852
-
FGF-23 and sFRP-4 in chronic kidney disease and post-renal transplantation
-
Pande S., Ritter C.S., Rothstein M., Wiesen K., Vassiliadis J., Kumar R., et al. FGF-23 and sFRP-4 in chronic kidney disease and post-renal transplantation. Nephron Physiol 2006, 104:23-32.
-
(2006)
Nephron Physiol
, vol.104
, pp. 23-32
-
-
Pande, S.1
Ritter, C.S.2
Rothstein, M.3
Wiesen, K.4
Vassiliadis, J.5
Kumar, R.6
-
67
-
-
70350223807
-
Patterns of FGF-23, DMP1, and MEPE expression in patients with chronic kidney disease
-
Pereira R.C., Jüppner H., Azucena-Serrano C.E., Yadin O., Salusky I.B., Wesseling-Perry K. Patterns of FGF-23, DMP1, and MEPE expression in patients with chronic kidney disease. Bone 2009, 45:1161-1168.
-
(2009)
Bone
, vol.45
, pp. 1161-1168
-
-
Pereira, R.C.1
Jüppner, H.2
Azucena-Serrano, C.E.3
Yadin, O.4
Salusky, I.B.5
Wesseling-Perry, K.6
-
68
-
-
0021813494
-
Genetic transmission of tumoral calcinosis: autosomal dominant with variable clinical expressivity
-
Lyles K.W., Burkes E.J., Ellis G.J., Lucas K.J., Dolan E.A., Drezner M.K. Genetic transmission of tumoral calcinosis: autosomal dominant with variable clinical expressivity. J Clin Endocrinol Metab 1985, 60:1093-1096.
-
(1985)
J Clin Endocrinol Metab
, vol.60
, pp. 1093-1096
-
-
Lyles, K.W.1
Burkes, E.J.2
Ellis, G.J.3
Lucas, K.J.4
Dolan, E.A.5
Drezner, M.K.6
-
69
-
-
2642546399
-
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis
-
Topaz O., Shurman D.L., Bergman R., Indelman M., Ratajczak P., Mizrachi M., et al. Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. Nat Genet 2004, 36:579-581.
-
(2004)
Nat Genet
, vol.36
, pp. 579-581
-
-
Topaz, O.1
Shurman, D.L.2
Bergman, R.3
Indelman, M.4
Ratajczak, P.5
Mizrachi, M.6
-
70
-
-
33751533213
-
Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene
-
Ichikawa S., Imel E.A., Sorenson A.H., Severe R., Knudson P., Harris G.J., et al. Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene. J Clin Endocrinol Metab 2006, 91:4472-4475.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 4472-4475
-
-
Ichikawa, S.1
Imel, E.A.2
Sorenson, A.H.3
Severe, R.4
Knudson, P.5
Harris, G.J.6
-
71
-
-
17844402245
-
A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis
-
Larsson T., Yu X., Davis S.I., Draman M.S., Mooney S.D., Cullen M.J., et al. A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis. J Clin Endocrinol Metab 2005, 90:2424-2427.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 2424-2427
-
-
Larsson, T.1
Yu, X.2
Davis, S.I.3
Draman, M.S.4
Mooney, S.D.5
Cullen, M.J.6
-
72
-
-
13544270218
-
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia
-
Benet-Pages A., Orlik P., Strom T.M., Lorenz-Depiereux B. An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. Hum Mol Genet 2005, 14:385-390.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 385-390
-
-
Benet-Pages, A.1
Orlik, P.2
Strom, T.M.3
Lorenz-Depiereux, B.4
-
73
-
-
70449124261
-
Defective O-glycosylation due to a novel homozygous S129P mutation is associated with lack of fibroblast growth factor 23 secretion and tumoral calcinosis
-
Bergwitz C., Banerjee S., Abu-Zahra H., Kaji H., Miyauchi A., Sugimoto T., et al. Defective O-glycosylation due to a novel homozygous S129P mutation is associated with lack of fibroblast growth factor 23 secretion and tumoral calcinosis. J Clin Endocrinol Metab 2009, 94:4267-4274.
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 4267-4274
-
-
Bergwitz, C.1
Banerjee, S.2
Abu-Zahra, H.3
Kaji, H.4
Miyauchi, A.5
Sugimoto, T.6
-
74
-
-
0014898752
-
Cortical hyperostosis with hyperphosphatemia: a new syndrome?
-
Melhem R.E., Najjar S.S., Khachadurian A.K. Cortical hyperostosis with hyperphosphatemia: a new syndrome?. J Pediatr 1970, 77:986-990.
-
(1970)
J Pediatr
, vol.77
, pp. 986-990
-
-
Melhem, R.E.1
Najjar, S.S.2
Khachadurian, A.K.3
-
75
-
-
12844273414
-
Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders
-
Frishberg Y., Topaz O., Bergman R., Behar D., Fisher D., Gordon D., et al. Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. J Mol Med (Berl) 2005, 83:33-38.
-
(2005)
J Mol Med (Berl)
, vol.83
, pp. 33-38
-
-
Frishberg, Y.1
Topaz, O.2
Bergman, R.3
Behar, D.4
Fisher, D.5
Gordon, D.6
-
76
-
-
34848871595
-
A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis
-
Ichikawa S., Imel E.A., Kreiter M.L., Yu X., Mackenzie D.S., Sorenson A.H., et al. A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. J Clin Invest 2007, 117:2684-2691.
-
(2007)
J Clin Invest
, vol.117
, 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
-
77
-
-
85153822688
-
Calcium regulation, calcium homeostasis, and genetic disorders of calcium metabolism
-
Elsevier, Philadelphia, PA, L. De Groot, L. Jameson (Eds.)
-
Thakker R.V., Bringhurst F.R., Jüppner H. Calcium regulation, calcium homeostasis, and genetic disorders of calcium metabolism. Endocrinology 2010, Vol 1:1136-1159. Elsevier, Philadelphia, PA. 6th ed. L. De Groot, L. Jameson (Eds.).
-
(2010)
Endocrinology
, vol.1
, pp. 1136-1159
-
-
Thakker, R.V.1
Bringhurst, F.R.2
Jüppner, H.3
-
78
-
-
42449155119
-
The GNAS locus and pseudohypoparathyroidism
-
Bastepe M. The GNAS locus and pseudohypoparathyroidism. Adv Exp Med Biol 2008, 626:27-40.
-
(2008)
Adv Exp Med Biol
, vol.626
, pp. 27-40
-
-
Bastepe, M.1
-
79
-
-
0032555241
-
Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alpha-subunit (Gsalpha) knockout mice is due to tissue-specific imprinting of the gsalpha gene
-
Yu S., Yu D., Lee E., Eckhaus M., Lee R., Corria Z., et al. Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alpha-subunit (Gsalpha) knockout mice is due to tissue-specific imprinting of the gsalpha gene. Proc Natl Acad Sci U S A 1998, 95:8715-8720.
-
(1998)
Proc Natl Acad Sci U S A
, vol.95
, pp. 8715-8720
-
-
Yu, S.1
Yu, D.2
Lee, E.3
Eckhaus, M.4
Lee, R.5
Corria, Z.6
-
80
-
-
13144250154
-
The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3
-
Jüppner H., Schipani E., Bastepe M., Cole D.E., Lawson M.L., Mannstadt M., et al. The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3. Proc Natl Acad Sci U S A 1998, 95:11798-11803.
-
(1998)
Proc Natl Acad Sci U S A
, vol.95
, pp. 11798-11803
-
-
Jüppner, H.1
Schipani, E.2
Bastepe, M.3
Cole, D.E.4
Lawson, M.L.5
Mannstadt, M.6
-
81
-
-
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., Cole D.E., Horst R., Abrams S.A., 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
-
-
Dauber, A.1
Nguyen, T.T.2
Sochett, E.3
Cole, D.E.4
Horst, R.5
Abrams, S.A.6
-
82
-
-
79961102329
-
Mutations in CYP24A1 and idiopathic infantile hypercalcemia
-
Schlingmann K.P., Kaufmann M., Weber S., Irwin A., Goos C., John U., 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
Irwin, A.4
Goos, C.5
John, U.6
-
83
-
-
0029160578
-
A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP consortium
-
Francis F., Hennig S., Korn B., Reinhardt R., de Jong P., Ponstka A., et al. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP consortium. Nat Genet 1995, 11:130-136.
-
(1995)
Nat Genet
, vol.11
, pp. 130-136
-
-
Francis, F.1
Hennig, S.2
Korn, B.3
Reinhardt, R.4
de Jong, P.5
Ponstka, A.6
-
84
-
-
0030964935
-
Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets
-
Holm I.A., Huang X., Kunkel L.M. Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. Am J Hum Genet 1997, 60:790-797.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 790-797
-
-
Holm, I.A.1
Huang, X.2
Kunkel, L.M.3
-
85
-
-
0141844575
-
Regulation of fibroblastic growth factor 23 expression but not degradation by PHEX
-
Liu S., Guo R., Simpson L.G., Xiao Z.S., Burnham C.E., Quarles L.D. Regulation of fibroblastic growth factor 23 expression but not degradation by PHEX. J Biol Chem 2003, 278:37419-37426.
-
(2003)
J Biol Chem
, vol.278
, 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
-
86
-
-
20244368616
-
Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia
-
Jonsson K.B., Zahradnik R., Larsson T., White K.E., Sugimoto T., Imanishi Y., et al. Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. N Engl J Med 2003, 348:1656-1663.
-
(2003)
N Engl J Med
, vol.348
, pp. 1656-1663
-
-
Jonsson, K.B.1
Zahradnik, R.2
Larsson, T.3
White, K.E.4
Sugimoto, T.5
Imanishi, Y.6
-
87
-
-
50249114540
-
Anti-FGF23 neutralizing antibodies show the physiological role and structural features of FGF23
-
Yamazaki Y., Tamada T., Kasai N., Urakawa I., Aono Y., Hasegawa H., et al. Anti-FGF23 neutralizing antibodies show the physiological role and structural features of FGF23. J Bone Miner Res 2008, 23:1509-1518.
-
(2008)
J Bone Miner Res
, vol.23
, pp. 1509-1518
-
-
Yamazaki, Y.1
Tamada, T.2
Kasai, N.3
Urakawa, I.4
Aono, Y.5
Hasegawa, H.6
-
88
-
-
52949134423
-
MEPE-ASARM peptides control extracellular matrix mineralization by binding to hydroxyapatite: an inhibition regulated by PHEX cleavage of ASARM
-
Addison W.N., Nakano Y., Loisel T., Crine P., McKee M.D. MEPE-ASARM peptides control extracellular matrix mineralization by binding to hydroxyapatite: an inhibition regulated by PHEX cleavage of ASARM. J Bone Miner Res 2008, 23:1638-1649.
-
(2008)
J Bone Miner Res
, vol.23
, pp. 1638-1649
-
-
Addison, W.N.1
Nakano, Y.2
Loisel, T.3
Crine, P.4
McKee, M.D.5
-
89
-
-
77953229051
-
Phosphorylation-dependent inhibition of mineralization by osteopontin ASARM peptides is regulated by PHEX cleavage
-
Addison W.N., Masica D.L., Gray J.J., McKee M.D. Phosphorylation-dependent inhibition of mineralization by osteopontin ASARM peptides is regulated by PHEX cleavage. J Bone Miner Res 2010, 25:695-705.
-
(2010)
J Bone Miner Res
, vol.25
, pp. 695-705
-
-
Addison, W.N.1
Masica, D.L.2
Gray, J.J.3
McKee, M.D.4
-
90
-
-
33947385485
-
Phosphorylated acidic serine-aspartate-rich MEPE-associated motif peptide from matrix extracellular phosphoglycoprotein inhibits phosphate regulating gene with homologies to endopeptidases on the X-chromosome enzyme activity
-
Liu S., Rowe P.S., Vierthaler L., Zhou J., Quarles L.D. Phosphorylated acidic serine-aspartate-rich MEPE-associated motif peptide from matrix extracellular phosphoglycoprotein inhibits phosphate regulating gene with homologies to endopeptidases on the X-chromosome enzyme activity. J Endocrinol 2007, 192:261-267.
-
(2007)
J Endocrinol
, vol.192
, pp. 261-267
-
-
Liu, S.1
Rowe, P.S.2
Vierthaler, L.3
Zhou, J.4
Quarles, L.D.5
-
91
-
-
0018094534
-
Hereditary hypophosphataemic rickets with autosomal recessive inheritance and severe osteosclerosis. A report of two cases
-
Perry W., Stamp T.C. Hereditary hypophosphataemic rickets with autosomal recessive inheritance and severe osteosclerosis. A report of two cases. J Bone Joint Surg Br 1978, 60B:430-434.
-
(1978)
J Bone Joint Surg Br
, vol.60 B
, pp. 430-434
-
-
Perry, W.1
Stamp, T.C.2
-
92
-
-
57449105121
-
Studies of the DMP1 57-kDa functional domain both in vivo and in vitro
-
Lu Y., Qin C., Xie Y., Bonewald L.F., Feng J.Q. Studies of the DMP1 57-kDa functional domain both in vivo and in vitro. Cells Tissues Organs 2009, 189:175-185.
-
(2009)
Cells Tissues Organs
, vol.189
, pp. 175-185
-
-
Lu, Y.1
Qin, C.2
Xie, Y.3
Bonewald, L.F.4
Feng, J.Q.5
-
93
-
-
20044383563
-
Dmp1-deficient mice display severe defects in cartilage formation responsible for a chondrodysplasia-like phenotype
-
Ye L., Mishina Y., Chen D., Huang H., Dallas S.L., Dallas M.R., et al. Dmp1-deficient mice display severe defects in cartilage formation responsible for a chondrodysplasia-like phenotype. J Biol Chem 2005, 280:6197-6203.
-
(2005)
J Biol Chem
, vol.280
, pp. 6197-6203
-
-
Ye, L.1
Mishina, Y.2
Chen, D.3
Huang, H.4
Dallas, S.L.5
Dallas, M.R.6
-
94
-
-
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 T.M. 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
-
95
-
-
76049121613
-
Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene
-
Levy-Litan V., Hershkovitz E., Avizov L., Leventhal N., Bercovich D., Chalifa-Caspi V., et al. Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. Am J Hum Genet 2010, 86:273-278.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 273-278
-
-
Levy-Litan, V.1
Hershkovitz, E.2
Avizov, L.3
Leventhal, N.4
Bercovich, D.5
Chalifa-Caspi, V.6
-
96
-
-
84857130445
-
Altered bone development and an increase in FGF-23 expression in Enpp1(-/-) mice
-
Mackenzie N.C., Zhu D., Milne E.M., van 't Hof R., Martin A., Quarles D.L., et al. Altered bone development and an increase in FGF-23 expression in Enpp1(-/-) mice. PLoS One 2012, 7:e32177.
-
(2012)
PLoS One
, vol.7
-
-
Mackenzie, N.C.1
Zhu, D.2
Milne, E.M.3
Van't Hof, R.4
Martin, A.5
Quarles, D.L.6
-
97
-
-
84855860969
-
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6
-
Nitschke Y., Baujat G., Botschen U., Wittkampf T., du Moulin M., Stella J., et al. Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet 2012, 90:25-39.
-
(2012)
Am J Hum Genet
, vol.90
, pp. 25-39
-
-
Nitschke, Y.1
Baujat, G.2
Botschen, U.3
Wittkampf, T.4
Du Moulin, M.5
Stella, J.6
-
98
-
-
33645405335
-
Expression of FGF23 is correlated with serum phosphate level in isolated fibrous dysplasia
-
Kobayashi K., Imanishi Y., Koshiyama H., Miyauchi A., Wakasa K., Kawata T., et al. Expression of FGF23 is correlated with serum phosphate level in isolated fibrous dysplasia. Life Sci 2006, 78:2295-2301.
-
(2006)
Life Sci
, vol.78
, pp. 2295-2301
-
-
Kobayashi, K.1
Imanishi, Y.2
Koshiyama, H.3
Miyauchi, A.4
Wakasa, K.5
Kawata, T.6
-
100
-
-
0034809953
-
A case of neuroendocrine oncogenic osteomalacia associated with a PHEX and fibroblast growth factor-23 expressing sinusidal malignant schwannoma
-
John M.R., Wickert H., Zaar K., Jonsson K.B., Grauer A., Ruppersberger P., et al. A case of neuroendocrine oncogenic osteomalacia associated with a PHEX and fibroblast growth factor-23 expressing sinusidal malignant schwannoma. Bone 2001, 29:393-402.
-
(2001)
Bone
, vol.29
, pp. 393-402
-
-
John, M.R.1
Wickert, H.2
Zaar, K.3
Jonsson, K.B.4
Grauer, A.5
Ruppersberger, P.6
-
101
-
-
33744956771
-
Sensitivity of fibroblast growth factor 23 measurements in tumor-induced osteomalacia
-
Imel E.A., Peacock M., Pitukcheewanont P., Heller H.J., Ward L.M., Shulman D., et al. Sensitivity of fibroblast growth factor 23 measurements in tumor-induced osteomalacia. J Clin Endocrinol Metab 2006, 91:2055-2061.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 2055-2061
-
-
Imel, E.A.1
Peacock, M.2
Pitukcheewanont, P.3
Heller, H.J.4
Ward, L.M.5
Shulman, D.6
-
102
-
-
0037179681
-
Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter
-
Prie D., Huart V., Bakouh N., Planelles G., Dellis O., Gerard B., et al. Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter. N Engl J Med 2002, 347:983-991.
-
(2002)
N Engl J Med
, vol.347
, pp. 983-991
-
-
Prie, D.1
Huart, V.2
Bakouh, N.3
Planelles, G.4
Dellis, O.5
Gerard, B.6
-
103
-
-
0344442745
-
Functional characterization of two naturally occurring mutations in the human sodium-phosphate cotransporter type IIa
-
Virkki L.V., Forster I.C., Hernando N., Biber J., Murer H. Functional characterization of two naturally occurring mutations in the human sodium-phosphate cotransporter type IIa. J Bone Miner Res 2003, 18:2135-2141.
-
(2003)
J Bone Miner Res
, vol.18
, pp. 2135-2141
-
-
Virkki, L.V.1
Forster, I.C.2
Hernando, N.3
Biber, J.4
Murer, H.5
-
104
-
-
77950250437
-
A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome
-
Magen D., Berger L., Coady M.J., Ilivitzki A., Militianu D., Tieder M., et al. A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome. N Engl J Med 2010, 362:1102-1109.
-
(2010)
N Engl J Med
, vol.362
, pp. 1102-1109
-
-
Magen, D.1
Berger, L.2
Coady, M.J.3
Ilivitzki, A.4
Militianu, D.5
Tieder, M.6
-
105
-
-
0022002364
-
Hereditary hypophosphatemic rickets with hypercalciuria
-
Tieder M., Modai D., Samuel R., Arie R., Halabe A., Bab I., et al. Hereditary hypophosphatemic rickets with hypercalciuria. N Engl J Med 1985, 312:611-617.
-
(1985)
N Engl J Med
, vol.312
, pp. 611-617
-
-
Tieder, M.1
Modai, D.2
Samuel, R.3
Arie, R.4
Halabe, A.5
Bab, I.6
-
106
-
-
31544481921
-
SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis
-
Bergwitz C., Roslin N.M., Tieder M., Loredo-Osti J.C., Bastepe M., Abu-Zahra H., et al. SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis. Am J Hum Genet 2006, 78:179-192.
-
(2006)
Am J Hum Genet
, vol.78
, pp. 179-192
-
-
Bergwitz, C.1
Roslin, N.M.2
Tieder, M.3
Loredo-Osti, J.C.4
Bastepe, M.5
Abu-Zahra, H.6
-
107
-
-
33749558921
-
Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria
-
Ichikawa S., Sorenson A.H., Imel E.A., Friedman N.E., Gertner J.M., Econs M.J. Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria. J Clin Endocrinol Metab 2006, 91:4022-4027.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 4022-4027
-
-
Ichikawa, S.1
Sorenson, A.H.2
Imel, E.A.3
Friedman, N.E.4
Gertner, J.M.5
Econs, M.J.6
-
108
-
-
31544460435
-
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3
-
Lorenz-Depiereux B., Benet-Pages A., Eckstein G., Tenenbaum-Rakover Y., Wagenstaller J., Tiosano D., Gershoni-Baruch R., et al. Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. Am J Hum Genet 2006, 78:193-201.
-
(2006)
Am J Hum Genet
, vol.78
, pp. 193-201
-
-
Lorenz-Depiereux, B.1
Benet-Pages, A.2
Eckstein, G.3
Tenenbaum-Rakover, Y.4
Wagenstaller, J.5
Tiosano, D.6
Gershoni-Baruch, R.7
-
109
-
-
79960136320
-
Sodium-dependent phosphate cotransporters: lessons from gene knockout and mutation studies
-
Miyamoto K., Haito-Sugino S., Kuwahara S., Ohi A., Nomura K., Ito M., et al. Sodium-dependent phosphate cotransporters: lessons from gene knockout and mutation studies. J Pharm Sci 2011, 100:3719-3730.
-
(2011)
J Pharm Sci
, vol.100
, pp. 3719-3730
-
-
Miyamoto, K.1
Haito-Sugino, S.2
Kuwahara, S.3
Ohi, A.4
Nomura, K.5
Ito, M.6
-
110
-
-
0033583827
-
Cloning and functional characterization of a sodium-dependent phosphate transporter expressed in human lung and small intestine
-
Feild J.A., Zhang L., Brun K.A., Brooks D.P., Edwards R.M. Cloning and functional characterization of a sodium-dependent phosphate transporter expressed in human lung and small intestine. Biochem Biophys Res Commun 1999, 258:578-582.
-
(1999)
Biochem Biophys Res Commun
, vol.258
, pp. 578-582
-
-
Feild, J.A.1
Zhang, L.2
Brun, K.A.3
Brooks, D.P.4
Edwards, R.M.5
-
111
-
-
62649163194
-
Targeted deletion of the tybe IIb Na(+)-dependent Pi-co-transporter, NaPi-IIb, results in early embryonic lethality
-
Shibasaki Y., Etoh N., Hayasaka M., Takahashi M.O., Kakitani M., Yamashita T., et al. Targeted deletion of the tybe IIb Na(+)-dependent Pi-co-transporter, NaPi-IIb, results in early embryonic lethality. Biochem Biophys Res Commun 2009, 381:482-486.
-
(2009)
Biochem Biophys Res Commun
, vol.381
, pp. 482-486
-
-
Shibasaki, Y.1
Etoh, N.2
Hayasaka, M.3
Takahashi, M.O.4
Kakitani, M.5
Yamashita, T.6
-
112
-
-
33749008222
-
Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis
-
Corut A., Senyigit A., Ugur S.A., Altin S., Ozcelik U., Calisir H., et al. Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis. Am J Hum Genet 2006, 79:650-656.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 650-656
-
-
Corut, A.1
Senyigit, A.2
Ugur, S.A.3
Altin, S.4
Ozcelik, U.5
Calisir, H.6
-
113
-
-
0000104676
-
[An unusual form of primary vitamin D-resistant rickets with hypocalcemia and autosomal-dominant hereditary transmission: hereditary pseudo-deficiency rickets]
-
Prader A., Illig R., Heierli E. [An unusual form of primary vitamin D-resistant rickets with hypocalcemia and autosomal-dominant hereditary transmission: hereditary pseudo-deficiency rickets]. Helv Paediatr Acta 1961, 16:452-468.
-
(1961)
Helv Paediatr Acta
, vol.16
, pp. 452-468
-
-
Prader, A.1
Illig, R.2
Heierli, E.3
-
114
-
-
0015929252
-
Pathogenesis of hereditary vitamin-D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D
-
Fraser D., Kooh S.W., Kind H.P., Holick M.F., Tanaka Y., DeLuca H.F. Pathogenesis of hereditary vitamin-D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D. N Engl J Med 1973, 289:817-822.
-
(1973)
N Engl J Med
, vol.289
, pp. 817-822
-
-
Fraser, D.1
Kooh, S.W.2
Kind, H.P.3
Holick, M.F.4
Tanaka, Y.5
DeLuca, H.F.6
-
115
-
-
0001196827
-
The 25-hydroxyvitamin D 1-alpha-hydroxylase gene maps to the pseudovitamin D-deficiency rickets (PDDR) disease locus
-
St-Arnaud R., Messerlian S., Moir J.M., Omdahl J.L., Glorieux F.H. The 25-hydroxyvitamin D 1-alpha-hydroxylase gene maps to the pseudovitamin D-deficiency rickets (PDDR) disease locus. J Bone Miner Res 1997, 12:1552-1559.
-
(1997)
J Bone Miner Res
, vol.12
, pp. 1552-1559
-
-
St-Arnaud, R.1
Messerlian, S.2
Moir, J.M.3
Omdahl, J.L.4
Glorieux, F.H.5
-
116
-
-
0030782757
-
Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1
-
Fu G.K., Lin D., Zhang M.Y., Bikle D.D., Shackleton C.H., Miller W.L., et al. Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1. Mol Endocrinol 1997, 11:1961-1970.
-
(1997)
Mol Endocrinol
, vol.11
, pp. 1961-1970
-
-
Fu, G.K.1
Lin, D.2
Zhang, M.Y.3
Bikle, D.D.4
Shackleton, C.H.5
Miller, W.L.6
-
117
-
-
0032485525
-
Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets
-
Kitanaka S., Takeyama K., Murayama A., Sato T., Okumura K., Nogami M., et al. Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets. N Engl J Med 1998, 338:653-661.
-
(1998)
N Engl J Med
, vol.338
, pp. 653-661
-
-
Kitanaka, S.1
Takeyama, K.2
Murayama, A.3
Sato, T.4
Okumura, K.5
Nogami, M.6
-
118
-
-
0036077507
-
Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro
-
Wang X., Zhang M.Y., Miller W.L., Portale A.A. Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro. J Clin Endocrinol Metab 2002, 87:2424-2430.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 2424-2430
-
-
Wang, X.1
Zhang, M.Y.2
Miller, W.L.3
Portale, A.A.4
-
119
-
-
0018260338
-
Vitamin-D-dependent rickets type II. Resistance of target organs to 1,25-dihydroxyvitamin D
-
Brooks M.H., Bell N.H., Love L., Stern P.H., Orfei E., Queener S.F., et al. Vitamin-D-dependent rickets type II. Resistance of target organs to 1,25-dihydroxyvitamin D. N Engl J Med 1978, 298:996-999.
-
(1978)
N Engl J Med
, vol.298
, pp. 996-999
-
-
Brooks, M.H.1
Bell, N.H.2
Love, L.3
Stern, P.H.4
Orfei, E.5
Queener, S.F.6
-
120
-
-
0018963779
-
Adult-onset vitamin D-resistant osteomalacia with the unresponsiveness to parathyroid hormone
-
Fujita T., Nomura M., Okajima S., Furuya H. Adult-onset vitamin D-resistant osteomalacia with the unresponsiveness to parathyroid hormone. J Clin Endocrinol Metab 1980, 50:927-931.
-
(1980)
J Clin Endocrinol Metab
, vol.50
, pp. 927-931
-
-
Fujita, T.1
Nomura, M.2
Okajima, S.3
Furuya, H.4
-
121
-
-
13344286321
-
A common molecular basis for three inherited kidney stone diseases
-
Lloyd S.E., Pearce S.H., Fisher S.E., Steinmeyer K., Schwappach B., Scheinman S.J., et al. A common molecular basis for three inherited kidney stone diseases. Nature 1996, 379:445-449.
-
(1996)
Nature
, vol.379
, pp. 445-449
-
-
Lloyd, S.E.1
Pearce, S.H.2
Fisher, S.E.3
Steinmeyer, K.4
Schwappach, B.5
Scheinman, S.J.6
-
122
-
-
0031888274
-
X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations
-
Scheinman S.J. X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations. Kidney Int 1998, 53:3-17.
-
(1998)
Kidney Int
, vol.53
, pp. 3-17
-
-
Scheinman, S.J.1
-
123
-
-
0027457372
-
Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe
-
Leahey A.M., Charnas L.R., Nussbaum R.L. Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. Hum Mol Genet 1993, 2:461-463.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 461-463
-
-
Leahey, A.M.1
Charnas, L.R.2
Nussbaum, R.L.3
-
124
-
-
0030667885
-
Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome
-
Santer R., Schneppenheim R., Dombrowski A., Gotze H., Steinmann B., Schaub J. Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. Nat Genet 1997, 17:324-326.
-
(1997)
Nat Genet
, vol.17
, pp. 324-326
-
-
Santer, R.1
Schneppenheim, R.2
Dombrowski, A.3
Gotze, H.4
Steinmann, B.5
Schaub, J.6
-
125
-
-
19944430581
-
Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation
-
White K.E., Cabral J.M., Davis S.I., Fishburn T., Evans W.E., Ichikawa S., et al. Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. Am J Hum Genet 2005, 76:361-367.
-
(2005)
Am J Hum Genet
, vol.76
, 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
-
126
-
-
16344378643
-
Elevated fibroblast growth factor-23 in hypophosphatemic linear nevus sebaceous syndrome
-
Hoffman W.H., Jüppner H., Deyoung B.R., O'Dorisio M.S., Given K.S. Elevated fibroblast growth factor-23 in hypophosphatemic linear nevus sebaceous syndrome. Am J Med Genet A 2005, 134:233-236.
-
(2005)
Am J Med Genet A
, vol.134
, pp. 233-236
-
-
Hoffman, W.H.1
Jüppner, H.2
Deyoung, B.R.3
O'Dorisio, M.S.4
Given, K.S.5
-
127
-
-
33645874795
-
Skeletal changes in epidermal nevus syndrome: does focal bone disease harbor clues concerning pathogenesis?
-
Heike C.L., Cunningham M.L., Steiner R.D., Wenkert D., Hornung R.L., Gruss J.S., et al. Skeletal changes in epidermal nevus syndrome: does focal bone disease harbor clues concerning pathogenesis?. Am J Med Genet A 2005, 139A:67-77.
-
(2005)
Am J Med Genet A
, vol.139 A
, pp. 67-77
-
-
Heike, C.L.1
Cunningham, M.L.2
Steiner, R.D.3
Wenkert, D.4
Hornung, R.L.5
Gruss, J.S.6
-
128
-
-
73949119246
-
Therapeutic effects of anti-FGF23 antibodies in hypophosphatemic rickets/osteomalacia
-
Aono Y., Yamazaki Y., Yasutake J., Kawata T., Hasegawa H., Urakawa I., et al. Therapeutic effects of anti-FGF23 antibodies in hypophosphatemic rickets/osteomalacia. J Bone Miner Res 2009, 24:1879-1888.
-
(2009)
J Bone Miner Res
, vol.24
, pp. 1879-1888
-
-
Aono, Y.1
Yamazaki, Y.2
Yasutake, J.3
Kawata, T.4
Hasegawa, H.5
Urakawa, I.6
-
129
-
-
78049463249
-
Direct evidence for a causative role of FGF23 in the abnormal renal phosphate handling and vitamin D metabolism in rats with early-stage chronic kidney disease
-
Hasegawa H., Nagano N., Urakawa I., Yamazaki Y., Iijima K., Fujita T., et al. Direct evidence for a causative role of FGF23 in the abnormal renal phosphate handling and vitamin D metabolism in rats with early-stage chronic kidney disease. Kidney Int 2010, 78:975-980.
-
(2010)
Kidney Int
, vol.78
, pp. 975-980
-
-
Hasegawa, H.1
Nagano, N.2
Urakawa, I.3
Yamazaki, Y.4
Iijima, K.5
Fujita, T.6
-
130
-
-
84863550146
-
FGF23 neutralization improves chronic kidney disease-associated hyperparathyroidism yet increases mortality
-
Shalhoub V., Shatzen E.M., Ward S.C., Davis J., Stevens J., Bi V. FGF23 neutralization improves chronic kidney disease-associated hyperparathyroidism yet increases mortality. J Clin Invest 2012, 122:2543-2553.
-
(2012)
J Clin Invest
, vol.122
, pp. 2543-2553
-
-
Shalhoub, V.1
Shatzen, E.M.2
Ward, S.C.3
Davis, J.4
Stevens, J.5
Bi, V.6
-
131
-
-
38449123062
-
The association of circulating ferritin with serum concentrations of fibroblast growth factor-23 measured by three commercial assays
-
Durham B.H., Joseph F., Bailey L.M., Fraser W.D. The association of circulating ferritin with serum concentrations of fibroblast growth factor-23 measured by three commercial assays. Ann Clin Biochem 2007, 44:463-466.
-
(2007)
Ann Clin Biochem
, vol.44
, pp. 463-466
-
-
Durham, B.H.1
Joseph, F.2
Bailey, L.M.3
Fraser, W.D.4
-
132
-
-
76149101238
-
Circulating fibroblast growth factor 23 in patients with end-stage renal disease treated by peritoneal dialysis is intact and biologically active
-
Shimada T., Urakawa I., Isakova T., Yamazaki Y., Epstein M., Wesseling-Perry K., et al. Circulating fibroblast growth factor 23 in patients with end-stage renal disease treated by peritoneal dialysis is intact and biologically active. J Clin Endocrinol Metab 2010, 95:578-585.
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. 578-585
-
-
Shimada, T.1
Urakawa, I.2
Isakova, T.3
Yamazaki, Y.4
Epstein, M.5
Wesseling-Perry, K.6
-
133
-
-
49249104701
-
Fibroblast growth factor 23 and mortality among patients undergoing hemodialysis
-
Gutierrez O.M., Mannstadt M., Isakova T., Rauh-Hain J.A., Tamez H., Shah A., et al. Fibroblast growth factor 23 and mortality among patients undergoing hemodialysis. N Engl J Med 2008, 359:584-592.
-
(2008)
N Engl J Med
, vol.359
, pp. 584-592
-
-
Gutierrez, O.M.1
Mannstadt, M.2
Isakova, T.3
Rauh-Hain, J.A.4
Tamez, H.5
Shah, A.6
-
134
-
-
77956642900
-
Klotho: a novel phosphaturic substance acting as an autocrine enzyme in the renal proximal tubule
-
Hu M.C., Shi M., Zhang J., Pastor J., Nakatani T., Lanske B., et al. Klotho: a novel phosphaturic substance acting as an autocrine enzyme in the renal proximal tubule. FASEB J 2010, 24:3438-3450.
-
(2010)
FASEB J
, vol.24
, pp. 3438-3450
-
-
Hu, M.C.1
Shi, M.2
Zhang, J.3
Pastor, J.4
Nakatani, T.5
Lanske, B.6
-
135
-
-
42149130855
-
A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism
-
Brownstein C.A., Adler F., Nelson-Williams C., Iijima J., Li P., Imura A., et al. A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism. Proc Natl Acad Sci U S A 2008, 105:3455-3460.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 3455-3460
-
-
Brownstein, C.A.1
Adler, F.2
Nelson-Williams, C.3
Iijima, J.4
Li, P.5
Imura, A.6
-
136
-
-
27744545673
-
Fibroblast growth factor-23 mitigates hyperphosphatemia but accentuates calcitriol deficiency in chronic kidney disease
-
Gutierrez O., Isakova T., Rhee E., Shah A., Holmes J., Collerone G., et al. Fibroblast growth factor-23 mitigates hyperphosphatemia but accentuates calcitriol deficiency in chronic kidney disease. J Am Soc Nephrol 2005, 16:2205-2215.
-
(2005)
J Am Soc Nephrol
, vol.16
, pp. 2205-2215
-
-
Gutierrez, O.1
Isakova, T.2
Rhee, E.3
Shah, A.4
Holmes, J.5
Collerone, G.6
-
137
-
-
57049155996
-
Differential effects of intermittent PTH(1-34) and PTH(7-34) on bone microarchitecture and aortic calcification in experimental renal failure
-
Sebastian E.M., Suva L.J., Friedman P.A. Differential effects of intermittent PTH(1-34) and PTH(7-34) on bone microarchitecture and aortic calcification in experimental renal failure. Bone 2008, 43:1022-1030.
-
(2008)
Bone
, vol.43
, pp. 1022-1030
-
-
Sebastian, E.M.1
Suva, L.J.2
Friedman, P.A.3
-
138
-
-
79951782544
-
Reducing the risk of re-fracture in the dialysis population: is it time to consider therapy with PTH analogues?
-
Jamal S.A., Hodsman A.B. Reducing the risk of re-fracture in the dialysis population: is it time to consider therapy with PTH analogues?. Semin Dial 2011, 24:12-15.
-
(2011)
Semin Dial
, vol.24
, pp. 12-15
-
-
Jamal, S.A.1
Hodsman, A.B.2
-
139
-
-
77954757172
-
Vitamin D analogues targeting CYP24 in chronic kidney disease
-
Posner G.H., Helvig C., Cuerrier D., Collop D., Kharebov A., Ryder K., et al. Vitamin D analogues targeting CYP24 in chronic kidney disease. J Steroid Biochem Mol Biol 2010, 121:13-19.
-
(2010)
J Steroid Biochem Mol Biol
, vol.121
, pp. 13-19
-
-
Posner, G.H.1
Helvig, C.2
Cuerrier, D.3
Collop, D.4
Kharebov, A.5
Ryder, K.6
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