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27. 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 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 Am J Hum Genet; 2006 Feb; 78(2):179-92. PubMed ID: 16358214 [TBL] [Abstract][Full Text] [Related]
28. Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/NaPi-IIc can be masked by vitamin D deficiency and can be associated with renal calcifications. Kremke B; Bergwitz C; Ahrens W; Schütt S; Schumacher M; Wagner V; Holterhus PM; Jüppner H; Hiort O Exp Clin Endocrinol Diabetes; 2009 Feb; 117(2):49-56. PubMed ID: 18523928 [TBL] [Abstract][Full Text] [Related]
29. Physiological regulation of renal sodium-dependent phosphate cotransporters. Miyamoto K; Segawa H; Ito M; Kuwahata M Jpn J Physiol; 2004 Apr; 54(2):93-102. PubMed ID: 15182416 [TBL] [Abstract][Full Text] [Related]
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31. [Updates on rickets and osteomalacia: the role of NaPi-2c/SLC34A3 and hypophosphataemic rickets]. Segawa H; Shiozaki Y; Minoshima S; Miyamoto K Clin Calcium; 2013 Oct; 23(10):1445-50. PubMed ID: 24076642 [TBL] [Abstract][Full Text] [Related]
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33. Phosphate transporters and their function. Biber J; Hernando N; Forster I Annu Rev Physiol; 2013; 75():535-50. PubMed ID: 23398154 [TBL] [Abstract][Full Text] [Related]
34. Novel aspects in regulated expression of the renal type IIa Na/Pi-cotransporter. Bacic D; Wagner CA; Hernando N; Kaissling B; Biber J; Murer H Kidney Int Suppl; 2004 Oct; (91):S5-S12. PubMed ID: 15461703 [TBL] [Abstract][Full Text] [Related]
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36. Involvement of the MAPK-kinase pathway in the PTH-mediated regulation of the proximal tubule type IIa Na+/Pi cotransporter in mouse kidney. Bacic D; Schulz N; Biber J; Kaissling B; Murer H; Wagner CA Pflugers Arch; 2003 Apr; 446(1):52-60. PubMed ID: 12690463 [TBL] [Abstract][Full Text] [Related]
37. Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function. Yamamoto T; Michigami T; Aranami F; Segawa H; Yoh K; Nakajima S; Miyamoto K; Ozono K J Bone Miner Metab; 2007; 25(6):407-13. PubMed ID: 17968493 [TBL] [Abstract][Full Text] [Related]
38. A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc. Jaureguiberry G; Carpenter TO; Forman S; Jüppner H; Bergwitz C Am J Physiol Renal Physiol; 2008 Aug; 295(2):F371-9. PubMed ID: 18480181 [TBL] [Abstract][Full Text] [Related]
39. Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities. Beck L; Karaplis AC; Amizuka N; Hewson AS; Ozawa H; Tenenhouse HS Proc Natl Acad Sci U S A; 1998 Apr; 95(9):5372-7. PubMed ID: 9560283 [TBL] [Abstract][Full Text] [Related]
40. 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 TM Am J Hum Genet; 2006 Feb; 78(2):193-201. PubMed ID: 16358215 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]