Autosomal dominant polycystic kidney disease (ADPKD) largely results from mutations in
the PKD1 gene leading to hyperproliferation of renal tubular epithelial cells and consequent …

Mutations in PKD1 and PKD2, the genes that encode polycystin-1 and polycystin-2
respectively, account for almost all cases of autosomal dominant polycystic kidney disease …

Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the growth of
multiple cysts that in many cases result in end-stage renal disease. Current strategies to …

The human PKD2 locus encodes Polycystin-2 (PC2), a TRPP channel that localises to
several distinct cellular compartments, including the cilium. PKD2 mutations cause …

Naturally occurring mutations in two separate genes, PKD1 and PKD2, are responsible for
the vast majority of all cases of autosomal dominant polycystic kidney disease (ADPKD), one …

A high level of polycystin-1 expression is detected in kidneys of all patients with autosomal
dominant polycystic kidney disease (ADPKD). Mice that overexpress polycystin-1 also …

Abstract Polycystin-2 (PC2) is the product of the PKD2 gene, which is mutated in 10–15%
patients of autosomal dominant polycystic kidney disease (ADPKD). PC2 is an integral …

Autosomal-dominant polycystic kidney disease (ADPKD) is a disease of defective tissue
homeostasis resulting in active remodeling of nephrons and bile ducts to form fluid-filled …

Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in two
genes, PKD1 and PKD2, which encode polycystin‐1 (PC1) and polycystin‐2 (PC2) …

Abstract Mutations in polycystin-1 (PC-1) are responsible for autosomal dominant polycystic
kidney disease (ADPKD), characterized by formation of fluid-filled tubular cysts. The PC-1 is …