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MeSH Review

Hypophosphatemia, Familial

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Disease relevance of Hypophosphatemia, Familial


High impact information on Hypophosphatemia, Familial


Chemical compound and disease context of Hypophosphatemia, Familial


Biological context of Hypophosphatemia, Familial


Anatomical context of Hypophosphatemia, Familial


Gene context of Hypophosphatemia, Familial


Analytical, diagnostic and therapeutic context of Hypophosphatemia, Familial


  1. 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., Albers, N., Lichtner, P., Schnabel, D., Hochberg, Z., Strom, T.M. Am. J. Hum. Genet. (2006) [Pubmed]
  2. Circulating FGF-23 is regulated by 1alpha,25-dihydroxyvitamin D3 and phosphorus in vivo. Saito, H., Maeda, A., Ohtomo, S., Hirata, M., Kusano, K., Kato, S., Ogata, E., Segawa, H., Miyamoto, K., Fukushima, N. J. Biol. Chem. (2005) [Pubmed]
  3. Calcium-dependent release of N-terminal fragments and intact immunoreactive parathyroid hormone by human pathological parathyroid tissue in vitro. el-Hajj Fuleihan, G., Chen, C.J., Rivkees, S.A., Marynick, S.P., Stock, J., Pallotta, J.A., Brown, E.M. J. Clin. Endocrinol. Metab. (1989) [Pubmed]
  4. Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis. Thakker, R.V. Kidney Int. (2000) [Pubmed]
  5. Metabolic and histologic investigation of the nature of nephrocalcinosis in children with hypophosphatemic rickets and in the Hyp mouse. Alon, U., Donaldson, D.L., Hellerstein, S., Warady, B.A., Harris, D.J. J. Pediatr. (1992) [Pubmed]
  6. Effects of therapy in X-linked hypophosphatemic rickets. Verge, C.F., Lam, A., Simpson, J.M., Cowell, C.T., Howard, N.J., Silink, M. N. Engl. J. Med. (1991) [Pubmed]
  7. Demeclocycline-induced phosphate diabetes in patients with inappropriate secretion of antidiuretic hormone. Decaux, G., Soupart, A., Unger, J., Delwiche, F. N. Engl. J. Med. (1985) [Pubmed]
  8. Bone response to phosphate salts, ergocalciferol, and calcitriol in hypophosphatemic vitamin D-resistant rickets. Glorieux, F.H., Marie, P.J., Pettifor, J.M., Delvin, E.E. N. Engl. J. Med. (1980) [Pubmed]
  9. 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., Waguespack, S., Gupta, A., Hannon, T., Econs, M.J., Bianco, P., Gehron Robey, P. J. Clin. Invest. (2003) [Pubmed]
  10. Two mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25 dihydroxyvitamin D3. Kristjansson, K., Rut, A.R., Hewison, M., O'Riordan, J.L., Hughes, M.R. J. Clin. Invest. (1993) [Pubmed]
  11. Impaired phosphorus conservation and 1,25 dihydroxyvitamin D generation during phosphorus deprivation in familial hypophosphatemic rickets. Insogna, K.L., Broadus, A.E., Gertner, J.M. J. Clin. Invest. (1983) [Pubmed]
  12. Increased renal catabolism of 1,25-dihydroxyvitamin D3 in murine X-linked hypophosphatemic rickets. Tenenhouse, H.S., Yip, A., Jones, G. J. Clin. Invest. (1988) [Pubmed]
  13. Structure-based design of selective agonists for a rickets-associated mutant of the vitamin d receptor. Swann, S.L., Bergh, J., Farach-Carson, M.C., Ocasio, C.A., Koh, J.T. J. Am. Chem. Soc. (2002) [Pubmed]
  14. Bone-forming ability of 24R,25-dihydroxyvitamin D3 in the hypophosphatemic mouse. Yamate, T., Tanaka, H., Nagai, Y., Yamato, H., Taniguchi, N., Nakamura, T., Seino, Y. J. Bone Miner. Res. (1994) [Pubmed]
  15. Tryptophan missense mutation in the ligand-binding domain of the vitamin D receptor causes severe resistance to 1,25-dihydroxyvitamin D. Nguyen, T.M., Adiceam, P., Kottler, M.L., Guillozo, H., Rizk-Rabin, M., Brouillard, F., Lagier, P., Palix, C., Garnier, J.M., Garabedian, M. J. Bone Miner. Res. (2002) [Pubmed]
  16. 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., Takeuchi, Y., Fujita, T., Fukumoto, S., Yamashita, T. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  17. An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. Benet-Pagès, A., Orlik, P., Strom, T.M., Lorenz-Depiereux, B. Hum. Mol. Genet. (2005) [Pubmed]
  18. Mutations in CLCN5 chloride channel in Japanese patients with low molecular weight proteinuria. Morimoto, T., Uchida, S., Sakamoto, H., Kondo, Y., Hanamizu, H., Fukui, M., Tomino, Y., Nagano, N., Sasaki, S., Marumo, F. J. Am. Soc. Nephrol. (1998) [Pubmed]
  19. The effects of bone marrow transplantation on X-linked hypophosphatemic mice. Miyamura, T., Tanaka, H., Inoue, M., Ichinose, Y., Seino, Y. J. Bone Miner. Res. (2000) [Pubmed]
  20. Molecular cloning of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T8, and analysis as a candidate autosomal dominant hypophosphatemic rickets (ADHR) gene. White, K.E., Lorenz, B., Evans, W.E., Meitinger, T., Strom, T.M., Econs, M.J. Gene (2000) [Pubmed]
  21. The concurrence of hypoparathyroidism provides new insights to the pathophysiology of X-linked hypophosphatemic rickets. Lyles, K.W., Burkes, E.J., McNamara, C.R., Harrelson, J.M., Pickett, J.P., Drezner, M.K. J. Clin. Endocrinol. Metab. (1985) [Pubmed]
  22. 24R,25-dihydroxyvitamin D3 promotes bone formation without causing excessive resorption in hypophosphatemic mice. Ono, T., Tanaka, H., Yamate, T., Nagai, Y., Nakamura, T., Seino, Y. Endocrinology (1996) [Pubmed]
  23. Recurring oral giant cell lesion in a child with X-linked hypophosphatemic rickets: clinical manifestation of occult parathyroidism? Stratakis, C.A., Mitsiades, N.S., Sun, D., Chrousos, G.P., O'Connell, A. J. Pediatr. (1995) [Pubmed]
  24. X-ray microanalysis of teeth from healthy patients and patients with familial hypophosphatemia. Daley, T.D., Jarvis, A., Wysocki, G.P., Kogon, S.L. Calcif. Tissue Int. (1990) [Pubmed]
  25. Hypersensitivity reaction in an infant fed hydrolyzed lactalbumin contained in a semielemental formula. Heyman, M.B., Stoker, T.W., Rudolph, C.D., Frick, O.L. J. Pediatr. Gastroenterol. Nutr. (1990) [Pubmed]
  26. Serum FGF23 levels in normal and disordered phosphorus homeostasis. Weber, T.J., Liu, S., Indridason, O.S., Quarles, L.D. J. Bone Miner. Res. (2003) [Pubmed]
  27. Fibroblast growth factor-23 increases mouse PGE2 production in vivo and in vitro. Syal, A., Schiavi, S., Chakravarty, S., Dwarakanath, V., Quigley, R., Baum, M. Am. J. Physiol. Renal Physiol. (2006) [Pubmed]
  28. Serum MEPE-ASARM-peptides are elevated in X-linked rickets (HYP): implications for phosphaturia and rickets. Bresler, D., Bruder, J., Mohnike, K., Fraser, W.D., Rowe, P.S. J. Endocrinol. (2004) [Pubmed]
  29. Isolation of novel mouse genes associated with ectopic ossification by differential display method using ttw, a mouse model for ectopic ossification. Koshizuka, Y., Ikegawa, S., Sano, M., Nakamura, K., Nakamura, Y. Cytogenet. Cell Genet. (2001) [Pubmed]
  30. Defective bone formation by Hyp mouse bone cells transplanted into normal mice: evidence in favor of an intrinsic osteoblast defect. Ecarot, B., Glorieux, F.H., Desbarats, M., Travers, R., Labelle, L. J. Bone Miner. Res. (1992) [Pubmed]
  31. Acute effects of calcitriol and phosphate salts on mineral metabolism in children with hypophosphatemic rickets. Bettinelli, A., Bianchi, M.L., Mazzucchi, E., Gandolini, G., Appiani, A.C. J. Pediatr. (1991) [Pubmed]
  32. Parathyroidectomy for tertiary hyperparathyroidism associated with X-linked dominant hypophosphatemic rickets. Savio, R.M., Gosnell, J.E., Posen, S., Reeve, T.S., Delbridge, L.W. Archives of surgery (Chicago, Ill. : 1960) (2004) [Pubmed]
  33. Hypophosphatemic rickets with sacroiliitis-like presentation in an adolescent. Onur, O., Celiker, R., Cetin, A., Alikaşifoğlu, A., Uğur, O., Başgöze, O. Scand. J. Rheumatol. (1997) [Pubmed]
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