Article
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.
Nature genetics - 1 Dec 2006
Hinkes Bernward, Wiggins Roger C, Gbadegesin Rasheed, Vlangos Christopher N, Seelow Dominik, Nürnberg Gudrun, Garg Puneet, Verma Rakesh, Chaib Hassan, Hoskins Bethan E, Ashraf Shazia, Becker Christian, Hennies Hans Christian, Goyal Meera, Wharram Bryan L, Schachter Asher D, Mudumana Sudha, Drummond Iain, Kerjaschki Dontscho, Waldherr Rüdiger, Dietrich Alexander, Ozaltin Fatih, Bakkaloglu Aysin, Cleper Roxana, Basel-Vanagaite Lina, Pohl Martin, Griebel Martin, Tsygin Alexey N, Soylu Alper, Müller Dominik, Sorli Caroline S, Bunney Tom D, Katan Matilda, Liu Jinhong, Attanasio Massimo, O'toole John F, Hasselbacher Katrin, Mucha Bettina, Otto Edgar A, Airik Rannar, Kispert Andreas, Kelley Grant G, Smrcka Alan V, Gudermann Thomas, Holzman Lawrence B, Nürnberg Peter, Hildebrandt Friedhelm
Abstract excerpt
Nephrotic syndrome, a malfunction of the kidney glomerular filter, leads to proteinuria, edema and, in steroid-resistant nephrotic syndrome, end-stage kidney disease. Using positional cloning, we identified mutations in the phospholipase C epsilon gene (PLCE1) as causing early-onset nephrotic syndrome with end-stage kidney disease. Kidney histology of affected individuals showed diffuse mesangial sclerosis (DMS)....
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