Article
Scattered Deletion of PKD1 in Kidneys Causes a Cystic Snowball Effect and Recapitulates Polycystic Kidney Disease.
Journal of the American Society of Nephrology : JASN - 1 Jun 2015
Leonhard Wouter N, Zandbergen Malu, Veraar Kimberley, van den Berg Susan, van der Weerd Louise, Breuning Martijn, de Heer Emile, Peters Dorien J M
Abstract excerpt
In total, 1 in 1000 individuals carries a germline mutation in the PKD1 or PKD2 gene, which leads to autosomal dominant polycystic kidney disease (ADPKD). Cysts can form early in life and progressively increase in number and size during adulthood. Extensive research has led to the presumption that somatic inactivation of the remaining allele initiates the formation of cysts, and the progression is further...
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