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Page 1
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
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.
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
Evidence for a role of uromodulin in chronic kidney disease progression.
Prajczer S, Heidenreich U, Pfaller W, Kotanko P, Lhotta K, Jennings P. Prajczer S, et al. Among authors: lhotta k. Nephrol Dial Transplant. 2010 Jun;25(6):1896-903. doi: 10.1093/ndt/gfp748. Epub 2010 Jan 14. Nephrol Dial Transplant. 2010. PMID: 20075439
202 results