Article
Heterotrimeric G protein signaling in polycystic kidney disease.
Physiological genomics - 1 Jul 2016
Hama Taketsugu, Park Frank
Abstract excerpt
Autosomal dominant polycystic kidney disease (ADPKD) is a signalopathy of renal tubular epithelial cells caused by naturally occurring mutations in two distinct genes, polycystic kidney disease 1 (PKD1) and 2 (PKD2). Genetic variants in PKD1, which encodes the polycystin-1 (PC-1) protein, remain the predominant factor associated with the pathogenesis of nearly two-thirds of all patients diagnosed with PKD....
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