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An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).
Zhu Z, Bo-Ran Ho B, Chen A, Amrhein J, Apetrei A, Carpenter TO, Lazaretti-Castro M, Colazo JM, McCrystal Dahir K, Geßner M, Gurevich E, Heier CA, Simmons JH, Hunley TE, Hoppe B, Jacobsen C, Kouri A, Ma N, Majumdar S, Molin A, Nokoff N, Ott SM, Peña HG, Santos F, Tebben P, Topor LS, Deng Y, Bergwitz C. Zhu Z, et al. Among authors: bergwitz c. Kidney Int. 2024 May;105(5):1058-1076. doi: 10.1016/j.kint.2024.01.031. Epub 2024 Feb 15. Kidney Int. 2024. PMID: 38364990
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: bergwitz c. 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.
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: bergwitz c. 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.
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. 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.
Response of Npt2a knockout mice to dietary calcium and phosphorus.
Li Y, Caballero D, Ponsetto J, Chen A, Zhu C, Guo J, Demay M, Jüppner H, Bergwitz C. Li Y, et al. Among authors: bergwitz c. PLoS One. 2017 Apr 27;12(4):e0176232. doi: 10.1371/journal.pone.0176232. eCollection 2017. PLoS One. 2017. PMID: 28448530 Free PMC article.
59 results