First it's rickets, then it's not the sodium-phosphate transporter 2a knockout mystery

Endocrinology

Volumn 151, Issue 10, 2010, Pages 4599-4601

  Bockman, Richard S ^a  

^a Division of Endocrinology Cornell University Hospital for Special Surgery ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCITRIOL; SODIUM PHOSPHATE COTRANSPORTER 2A; VITAMIN D RECEPTOR;

AUTOSOMAL DOMINANT HYPOPHOSPHATEMIC RICKETS; AUTOSOMAL RECESSIVE HYPOPHOSPHATEMIC RICKETS; BONE DEVELOPMENT; GENETIC DISORDER; GROWTH PLATE; HEREDITARY HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA; HYPOPHOSPHATEMIA; KIDNEY TUBULE ABSORPTION; NONHUMAN; ONCOGENIC OSTEOMALACIA; OSTEOLYSIS; OSTEOMALACIA; PHOSPHATE DEFICIENCY; PHOSPHATE METABOLISM; PRIORITY JOURNAL; PROTEIN FUNCTION; REGULATORY MECHANISM; RICKETS; SHORT SURVEY; VITAMIN D DEFICIENCY; X LINKED HYPOPHOSPHATEMIC RICKETS; ANIMAL; BIOLOGICAL MODEL; DISEASE MODEL; GENETICS; HUMAN; KNOCKOUT MOUSE; MOUSE; PHYSIOLOGY;

ANIMALS; DISEASE MODELS, ANIMAL; HUMANS; MICE; MICE, KNOCKOUT; MODELS, BIOLOGICAL; OSTEOMALACIA; RICKETS; SODIUM-PHOSPHATE COTRANSPORTER PROTEINS, TYPE IIA;

EID: 77957286819     PISSN: 00137227     EISSN: 00137227     Source Type: Journal    
DOI: 10.1210/en.2010-0818     Document Type: Short Survey

References (13)

1. Donnelly R, Bockman R, DiCarlo E, Betts F, and Boskey A 1993 The effect of gallium nitrate on healing of vitamin D- and phosphate-deficient rickets in the immature rat. Calcif Tis Int 53:400-410
2. Fukumoto, S 2008 Physiological regulation and disorders of phosphate metabolism. Inter Med 47:337-343
3. Forster IC, Hernando N, Biber J, Murer H 2006 Proximal tubular handling of phosphate: a molecular perspective. Kidney Int 70: 1548-1559
4. Murer H, Forster I, Hernando N, Lambert G, Traebert M, Biber J 1999 Posttranscriptional regulation of the proximal tubule NaPi-II transporter in response to PTH and dietary P(I). Am J Physiol 277: F676-F684
5. Gattineni J, Baum M 2010 Regulation of phosphate transport by fibroblast growth factor 23 (FGF23): implications for disorders of phosphate metabolism. Pediatr Nephrol 25:591-601
6. Beck L, Karaplis AC, Amizuka N, Hewson AS, Ozawa H, Tenenhouse HS 1998 Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities. Proc Natl Acad Sci USA 95:5372-5377
7. Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H 2006 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 78:179-192 (Pubitemid 43157559)
8. Magen D, Berger L, Coady MJ, Ilivitzki A, Militianu D, Tieder M, Selig S, Lapointe JY, Zelikovic I, Skorecki K 2010 Aloss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome. N Engl J Med 362:1102-1109
9. Autosomal Dominant Hypophosphataemic Rickets Consortium 2000 Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet 26:345-348
10. Lorenz-Depiereux B, Bastepe M, Benet-Pagès A, Amyere M, Wagenstaller J, Müller-Barth U, Badenhoop K, Kaiser SM, Rittmaster RS, Shlossberg AH, Olivares JL, Loris C, Ramos FJ, Glorieux F, Vikkula M, Jüppner H, Strom TM 2006 DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nat Genet 38:1248-1250 (Pubitemid 44646286)
11. Levine BS, Kleeman CR, Felsenfeld AJ 2009 The journey from vitamin D-resistant rickets to the regulation of renal phosphate transport. Clin J Am Soc Nephrol 4:1866-1877
12. 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 (Pubitemid 32488266)
13. Miedlich SU, Zhu ED, Sabbagh Y, Demay MB 2010 The receptor-dependent actions of 1,25-dihydroxyvitamin D are required for normal growth plate maturation in NPt2a knockout mice. Endocrinology 151:4607-4612