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XB-GENEPAGE-940348
Papers associated with slc34a3
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Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting., Schönauer R, Petzold F, Lucinescu W, Seidel A, Müller L, Neuber S, Bergmann C, Sayer JA, Werner A, Halbritter J., Urolithiasis. December 1, 2019; 47 (6): 511-519.  |
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Analysis of opossum kidney NaPi-IIc sodium-dependent phosphate transporter to understand Pi handling in human kidney., Fujii T, Shiozaki Y, Segawa H, Nishiguchi S, Hanazaki A, Noguchi M, Kirino R, Sasaki S, Tanifuji K, Koike M, Yokoyama M, Arima Y, Kaneko I, Tatsumi S, Ito M, Miyamoto KI., Clin Exp Nephrol. March 1, 2019; 23 (3): 313-324. |
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Identification of a mammalian silicon transporter., Ratcliffe S, Jugdaohsingh R, Vivancos J, Marron A, Deshmukh R, Ma JF, Mitani-Ueno N, Robertson J, Wills J, Boekschoten MV, Müller M, Mawhinney RC, Kinrade SD, Isenring P, Bélanger RR, Powell JJ., Am J Physiol Cell Physiol. May 1, 2017; 312 (5): C550-C561.  |
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Loss of function of NaPiIIa causes nephrocalcinosis and possibly kidney insufficiency., Dinour D, Davidovits M, Ganon L, Ruminska J, Forster IC, Hernando N, Eyal E, Holtzman EJ, Wagner CA., Pediatr Nephrol. December 1, 2016; 31 (12): 2289-2297. |
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Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations., Mannstadt M, Magen D, Segawa H, Stanley T, Sharma A, Sasaki S, Bergwitz C, Mounien L, Boepple P, Thorens B, Zelikovic I, Jüppner H., J Clin Endocrinol Metab. October 1, 2012; 97 (10): E1978-86. |
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Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria., Haito-Sugino S, Ito M, Ohi A, Shiozaki Y, Kangawa N, Nishiyama T, Aranami F, Sasaki S, Mori A, Kido S, Tatsumi S, Segawa H, Miyamoto K., Am J Physiol Cell Physiol. May 1, 2012; 302 (9): C1316-30. |
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Identification and functional analysis of a splice variant of mouse sodium-dependent phosphate transporter Npt2c., Kuwahara S, Aranami F, Segawa H, Onitsuka A, Honda N, Tominaga R, Hanabusa E, Kaneko I, Yamanaka S, Sasaki S, Ohi A, Nomura K, Tatsumi S, Kido S, Ito M, Miyamoto K., J Med Invest. January 1, 2012; 59 (1-2): 116-26. |
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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. August 1, 2008; 295 (2): F371-9. |
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