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KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron.
Louis-Dit-Picard H, Barc J, Trujillano D, Miserey-Lenkei S, Bouatia-Naji N, Pylypenko O, Beaurain G, Bonnefond A, Sand O, Simian C, Vidal-Petiot E, Soukaseum C, Mandet C, Broux F, Chabre O, Delahousse M, Esnault V, Fiquet B, Houillier P, Bagnis CI, Koenig J, Konrad M, Landais P, Mourani C, Niaudet P, Probst V, Thauvin C, Unwin RJ, Soroka SD, Ehret G, Ossowski S, Caulfield M; International Consortium for Blood Pressure (ICBP); Bruneval P, Estivill X, Froguel P, Hadchouel J, Schott JJ, Jeunemaitre X. Louis-Dit-Picard H, et al. Nat Genet. 2012 Mar 11;44(4):456-60, S1-3. doi: 10.1038/ng.2218. Nat Genet. 2012. PMID: 22406640
Rab6-interacting protein 1 links Rab6 and Rab11 function.
Miserey-Lenkei S, Waharte F, Boulet A, Cuif MH, Tenza D, El Marjou A, Raposo G, Salamero J, Héliot L, Goud B, Monier S. Miserey-Lenkei S, et al. Traffic. 2007 Oct;8(10):1385-403. doi: 10.1111/j.1600-0854.2007.00612.x. Epub 2007 Aug 23. Traffic. 2007. PMID: 17725553 Free article.
TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways.
Dorval G, Kuzmuk V, Gribouval O, Welsh GI, Bierzynska A, Schmitt A, Miserey-Lenkei S, Koziell A, Haq S, Benmerah A, Mollet G, Boyer O, Saleem MA, Antignac C. Dorval G, et al. Among authors: miserey lenkei s. Am J Hum Genet. 2019 Feb 7;104(2):348-355. doi: 10.1016/j.ajhg.2018.12.016. Epub 2019 Jan 17. Am J Hum Genet. 2019. PMID: 30661770 Free PMC article.
30 results