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Volumn 90, Issue 10, 2005, Pages 5523-5527

A novel mutation in fibroblast growth factor 23 gene as a cause of tumoral calcinosis

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR 23; PHENYLALANINE; PHOSPHATE; SERINE;

EID: 26244454531     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2005-0301     Document Type: Article
Times cited : (193)

References (19)
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  • 3
    • 0036019481 scopus 로고    scopus 로고
    • Fibroblast growth factor-23 is the phosphaturic factor in tumor-induced osteomalacia and may be phosphatonin
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    • Fukumoto, S.1    Yamashita, T.2
  • 4
    • 0033763097 scopus 로고    scopus 로고
    • 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
  • 10
    • 9644303231 scopus 로고    scopus 로고
    • 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
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    • 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
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    • 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
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    • Benet-Pages, A.1    Orlik, P.2    Strom, T.M.3    Lorenz-Depiereux, B.4
  • 14
    • 18444375871 scopus 로고    scopus 로고
    • 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
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    • Fibroblast growth factor-23 relationship to dietary phosphate and renal phosphate handling in healthy young men
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    • Ferrari, S.L.1    Bonjour, J.P.2    Rizzoli, R.3
  • 19
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    • 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
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.