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Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.
Dasgupta D, Wee MJ, Reyes M, Li Y, Simm PJ, Sharma A, Schlingmann KP, Janner M, Biggin A, Lazier J, Gessner M, Chrysis D, Tuchman S, Baluarte HJ, Levine MA, Tiosano D, Insogna K, Hanley DA, Carpenter TO, Ichikawa S, Hoppe B, Konrad M, Sävendahl L, Munns CF, Lee H, Jüppner H, Bergwitz C. Dasgupta D, et al. Among authors: carpenter to. J Am Soc Nephrol. 2014 Oct;25(10):2366-75. doi: 10.1681/ASN.2013101085. Epub 2014 Apr 3. J Am Soc Nephrol. 2014. PMID: 24700880 Free PMC article.
Multisystem study of 20 older adults with Williams syndrome.
Cherniske EM, Carpenter TO, Klaiman C, Young E, Bregman J, Insogna K, Schultz RT, Pober BR. Cherniske EM, et al. Among authors: carpenter to. Am J Med Genet A. 2004 Dec 15;131(3):255-64. doi: 10.1002/ajmg.a.30400. Am J Med Genet A. 2004. PMID: 15534874
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. Bergwitz C, et al. Among authors: carpenter to. Am J Hum Genet. 2006 Feb;78(2):179-92. doi: 10.1086/499409. Epub 2005 Dec 9. Am J Hum Genet. 2006. PMID: 16358214 Free PMC article.
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. Jaureguiberry G, et al. Among authors: carpenter to. Am J Physiol Renal Physiol. 2008 Aug;295(2):F371-9. doi: 10.1152/ajprenal.00090.2008. Epub 2008 May 14. Am J Physiol Renal Physiol. 2008. PMID: 18480181 Free PMC article.
The resulting overall reduction of function of this NaPi-IIc mutant to 16%, taken together with complete loss of expression and function of g.4225_50del(V446Stop), thus appears to be sufficient to explain the phenotype in our patient. Furthermore, the stoichi …
The resulting overall reduction of function of this NaPi-IIc mutant to 16%, taken together with complete loss of expression and funct …
168 results