-
1
-
-
2642546399
-
Mutations in GALNT3 encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis
-
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 2004 Mutations in GALNT3 encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. Nat Genet 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
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
-
2
-
-
0023684611
-
Correlations of serum concentrations of 1,25-dihydroxyvitmain D, phosphorus, and parathyroid hormone in tumoral calcinosis
-
Lyles KW, Halsey DL, Friedman NE, Lobaugh B 1988 Correlations of serum concentrations of 1,25-dihydroxyvitmain D, phosphorus, and parathyroid hormone in tumoral calcinosis. J Clin Endocrinol Metab 67:88-92
-
(1988)
J Clin Endocrinol Metab
, vol.67
, pp. 88-92
-
-
Lyles, K.W.1
Halsey, D.L.2
Friedman, N.E.3
Lobaugh, B.4
-
3
-
-
0036019481
-
Fibroblast growth factor-23 is the phosphaturic factor in tumor-induced osteomalacia and may be phosphatonin
-
Fukumoto S, Yamashita T 2002 Fibroblast growth factor-23 is the phosphaturic factor in tumor-induced osteomalacia and may be phosphatonin. Curr Opin Nephrol Hypertens 11:385-389
-
(2002)
Curr Opin Nephrol Hypertens
, vol.11
, pp. 385-389
-
-
Fukumoto, S.1
Yamashita, T.2
-
4
-
-
0033763097
-
Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23
-
The ADHR Consortium 2000 Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet 26:345-348
-
(2000)
Nat Genet
, vol.26
, pp. 345-348
-
-
-
5
-
-
14344279878
-
Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia
-
USA
-
Shimada T, Mizutani S, Muto T, Yoneya T, Hino R, Takeda S, Takeuchi Y, Fujita T, Fukumoto S, Yamashita T 2001 Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia. Proc Natl Acad Sci USA 98:6500-6505
-
(2001)
Proc Natl Acad Sci
, vol.98
, 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
-
6
-
-
18744371012
-
Increased circulatory level of biologically active full-length FGF-23 in hypophosphatemic rickets/osteomalacia
-
Yamazaki Y, Okazaki R, Shibata M, Hasegawa Y, Satoh K, Tajima T, Takeuchi Y, Fujita T, Nakahara K, Yamashita T, Fukumoto S 2002 Increased circulatory level of biologically active full-length FGF-23 in hypophosphatemic rickets/osteomalacia. J Clin Endocrinol Metab 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
Takeuchi, Y.7
Fujita, T.8
Nakahara, K.9
Yamashita, T.10
Fukumoto, S.11
-
7
-
-
20244368616
-
Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia
-
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 2003 Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. N Engl J Med 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
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
-
8
-
-
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, Fujita T, Nakahara K, Fukumoto S, Yamashita T 2004 FGF-23 is a potent regulator of vitamin D metabolism and phosphate homeostasis. J Bone Miner Res 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
Fujita, T.7
Nakahara, K.8
Fukumoto, S.9
Yamashita, T.10
-
9
-
-
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, Fukumoto S, Tomizuka K, Yamashita T 2004 Targeted ablation of FGF23 demonstrates an essential physiological role of FGF23 in phosphate and vitamin D metabolism. J Clin Invest 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
Fukumoto, S.7
Tomizuka, K.8
Yamashita, T.9
-
10
-
-
9644303231
-
Homozygous ablation of fibroblast growth factor-23 results in hyperphosphatemia and impaired skeletogenesis, and reverses hypophosphatemia in Phex-deficient mice
-
Sitara D, Razzaque MS, Hesse M, Yoganathan S, Taguchi T, Erben RG, Juppner H, Lanske B 2004 Homozygous ablation of fibroblast growth factor-23 results in hyperphosphatemia and impaired skeletogenesis, and reverses hypophosphatemia in Phex-deficient mice. Matrix Biol 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
Juppner, H.7
Lanske, B.8
-
11
-
-
13544270218
-
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia
-
Benet-Pages A, Orlik P, Strom TM, Lorenz-Depiereux B 2005 An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. Hum Mol Genet 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
-
12
-
-
17844402245
-
A novel recessive mutation in fibroblast growth factor-23 (FGF23) causes familial tumoral calcinosis
-
Larsson T, Yu X, Davis SI, Draman MS, Mooney SD, Cullen MJ, White KE 2005 A novel recessive mutation in fibroblast growth factor-23 (FGF23) causes familial tumoral calcinosis. J Clin Endocrinol Metab 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
White, K.E.7
-
13
-
-
3242656464
-
FGF23 is processed by proprotein convertases but not by PHEX
-
Benet-Pages A, Lorenz-Depiereux B, Zischka H, White KE, Econs MJ, Strom TM 2004 FGF23 is processed by proprotein convertases but not by PHEX. Bone 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
-
14
-
-
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, Takeuchi Y, Fujita T, Fukumoto S, Yamashita T 2002 Mutant FGF-23 responsible for autosomal dominant hypophosphatemic rickets is resistant to proteolytic cleavage and causes hypophosphatemia in vivo. Endocrinology 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
Takeuchi, Y.7
Fujita, T.8
Fukumoto, S.9
Yamashita, T.10
-
15
-
-
4043052503
-
Venous sampling for fibroblast growth factor-23 confirms preoperative diagnosis of tumor-induced osteomalacia
-
Takeuchi Y, Suzuki H, Ogura S, Imai R, Yamazaki Y, Yamashita T, Miyamoto Y, Okazaki H, Nakamura K, Nakahara K, Fukumoto S, Fujita T 2004 Venous sampling for fibroblast growth factor-23 confirms preoperative diagnosis of tumor-induced osteomalacia. J Clin Endocrinol Metab 89:3979-3982
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 3979-3982
-
-
Takeuchi, Y.1
Suzuki, H.2
Ogura, S.3
Imai, R.4
Yamazaki, Y.5
Yamashita, T.6
Miyamoto, Y.7
Okazaki, H.8
Nakamura, K.9
Nakahara, K.10
Fukumoto, S.11
Fujita, T.12
-
16
-
-
19944433609
-
3 and phosphorus in vivo
-
3 and phosphorus in vivo. J Biol Chem 280:2543-2549
-
(2005)
J Biol Chem
, vol.280
, pp. 2543-2549
-
-
Saito, H.1
Maeda, A.2
Ohtomo, S.I.3
Hirata, M.4
Kusano, K.5
Kato, S.6
Ogata, E.7
Segawa, H.8
Miyamoto, K.I.9
Fukushima, N.10
-
17
-
-
15944376583
-
Fibroblast growth factor-23 relationship to dietary phosphate and renal phosphate handling in healthy young men
-
Ferrari SL, Bonjour JP, Rizzoli R 2004 Fibroblast growth factor-23 relationship to dietary phosphate and renal phosphate handling in healthy young men. J Clin Endocrinol Metab 90:1519-1524
-
(2004)
J Clin Endocrinol Metab
, vol.90
, pp. 1519-1524
-
-
Ferrari, S.L.1
Bonjour, J.P.2
Rizzoli, R.3
-
18
-
-
26244466648
-
Cortical hyperostosis-hyperphosphatemia syndrome associated with augmented processing and decreased biologically active FGF-23
-
Abstract
-
Frishberg Y, Araya K, Rinat C, Yamazaki Y, Feinsterin S, Becker-Cohen R, Yamashita T, Fukumoto S 2003 Cortical hyperostosis-hyperphosphatemia syndrome associated with augmented processing and decreased biologically active FGF-23. J Am Soc Nephrol 14:208A (Abstract)
-
(2003)
J Am Soc Nephrol
, vol.14
-
-
Frishberg, Y.1
Araya, K.2
Rinat, C.3
Yamazaki, Y.4
Feinsterin, S.5
Becker-Cohen, R.6
Yamashita, T.7
Fukumoto, S.8
-
19
-
-
1642494893
-
The crystal structure of fibroblast growth factor (FGF) 19 reveals novel features of the FGF family and offers a structural basis for its unusual receptor affinity
-
Harmer NJ, Pellegrini L, Chirgadze D, Fernandez-Recio J, Blundell TL 2004 The crystal structure of fibroblast growth factor (FGF) 19 reveals novel features of the FGF family and offers a structural basis for its unusual receptor affinity. Biochemistry 43:629-640
-
(2004)
Biochemistry
, vol.43
, pp. 629-640
-
-
Harmer, N.J.1
Pellegrini, L.2
Chirgadze, D.3
Fernandez-Recio, J.4
Blundell, T.L.5
|