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Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum.
Williams SE, Reed AA, Galvanovskis J, Antignac C, Goodship T, Karet FE, Kotanko P, Lhotta K, Morinière V, Williams P, Wong W, Rorsman P, Thakker RV. Williams SE, et al. Among authors: lhotta k. Hum Mol Genet. 2009 Aug 15;18(16):2963-74. doi: 10.1093/hmg/ddp235. Epub 2009 May 22. Hum Mol Genet. 2009. PMID: 19465746 Free PMC article.
UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.
Turner JJ, Stacey JM, Harding B, Kotanko P, Lhotta K, Puig JG, Roberts I, Torres RJ, Thakker RV. Turner JJ, et al. Among authors: lhotta k. J Clin Endocrinol Metab. 2003 Mar;88(3):1398-401. doi: 10.1210/jc.2002-021973. J Clin Endocrinol Metab. 2003. PMID: 12629136
Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease.
Wu F, Reed AA, Williams SE, Loh NY, Lippiat JD, Christie PT, Large O, Bettinelli A, Dillon MJ, Goldraich NP, Hoppe B, Lhotta K, Loirat C, Malik R, Morel D, Kotanko P, Roussel B, Rubinger D, Schrander-Stumpel C, Serdaroglu E, Nesbit MA, Ashcroft F, Thakker RV. Wu F, et al. Among authors: lhotta k. Nephron Physiol. 2009;112(4):p53-62. doi: 10.1159/000225944. Epub 2009 Jun 20. Nephron Physiol. 2009. PMID: 19546591
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations.
Kidd K, Vylet'al P, Schaeffer C, Olinger E, Živná M, Hodaňová K, Robins V, Johnson E, Taylor A, Martin L, Izzi C, Jorge SC, Calado J, Torres RJ, Lhotta K, Steubl D, Gale DP, Gast C, Gombos E, Ainsworth HC, Chen YM, Almeida JR, de Souza CF, Silveira C, Raposeiro R, Weller N, Conlon PJ, Murray SL, Benson KA, Cavalleri GL, Votruba M, Vrbacká A, Amoroso A, Gianchino D, Caridi G, Ghiggeri GM, Divers J, Scolari F, Devuyst O, Rampoldi L, Kmoch S, Bleyer AJ. Kidd K, et al. Among authors: lhotta k. Kidney Int Rep. 2020 Jul 3;5(9):1472-1485. doi: 10.1016/j.ekir.2020.06.029. eCollection 2020 Sep. Kidney Int Rep. 2020. PMID: 32954071 Free PMC article.
201 results