Article
Missense mutation in sterile alpha motif of novel protein SamCystin is associated with polycystic kidney disease in (cy/+) rat.
Journal of the American Society of Nephrology : JASN - 1 Dec 2005
Brown Joanna H, Bihoreau Marie-Thérèse, Hoffmann Sigrid, Kränzlin Bettina, Tychinskaya Iulia, Obermüller Nicholas, Podlich Dirk, Boehn Suzanne N, Kaisaki Pamela J, Megel Natalia, Danoy Patrick, Copley Richard R, Broxholme John, Witzgall Ralph, Lathrop Mark, Gretz Norbert, Gauguier Dominique
Abstract excerpt
Autosomal dominant polycystic kidney disease (PKD) is the most common genetic disease that leads to kidney failure in humans. In addition to the known causative genes PKD1 and PKD2, there are mutations that result in cystic changes in the kidney, such as nephronophthisis, autosomal recessive polycystic kidney disease, or medullary cystic kidney disease. Recent efforts to improve the understanding of renal...
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