Article
Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease.
Kidney international - 1 Aug 2020
Huynh Vinh T, Audrézet Marie-Pierre, Sayer John A, Ong Albert C, Lefevre Siriane, Le Brun Valoris, Després Aurore, Senum Sarah R, Chebib Fouad T, Barroso-Gil Miguel, Patel Chirag, Mallett Andrew J, Goel Himanshu, Mallawaarachchi Amali C, Van Eerde Albertien M, Ponlot Eléonore, Kribs Marc, Le Meur Yannick, Harris Peter C, Cornec-Le Gall Emilie
Abstract excerpt
Monoallelic mutations of DNAJB11 were recently described in seven pedigrees with atypical clinical presentations of autosomal dominant polycystic kidney disease. DNAJB11 encodes one of the main cofactors of the endoplasmic reticulum chaperon BiP, a heat-shock protein required for efficient protein folding and trafficking. Here we conducted an international collaborative study to better characterize the...
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