Polycystin-1 plays an essential role in renal tubular morphogenesis, and disruption of its
function causes cystogenesis in human autosomal-dominant polycystic kidney disease …

Autosomal dominant polycystic kidney disease (ADPKD) is the most common renal
monogenic disorder. It is characterized by progressive, bilateral renal cystic expansion …

Recently, the gene for the most common form of autosomal dominant polycystic kidney
disease (ADPKD), PKD1 (polycystic kidney disease 1), has been fully characterized and …

Autosomal dominant polycystic kidney disease (PKD) is caused by mutation of polycystin-1
or polycystin-2. Polycystin-2 is a Ca 2+-permeable cation channel. Polycystin-1 is an integral …

Background. Mutations in PKD2 account for 15% of patients with autosomal dominant
polycystic kidney disease. Expression of the PKD2 protein, polycystin‐2, is developmentally …

Mutations in genes encoding polycystin-1 (PC1) and polycystin-2 cause autosomal
dominant polycystic kidney disease. The polycystin protein family is composed of Ca2+ …

Polycystin-L (PCL), the third member of the polycystin family of proteins, functions as a Ca
2+-modulated nonselective cation channel when expressed in Xenopus oocytes. Polycystin …

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) …

Polycystin-1, polycystin-2 and polycystin-L are the predicted protein products of the PKD1,
PKD2 and PKDL genes, respectively. Mutations in PKD1 and PKD2 are responsible for …

The gene PKD I, which is mutated in type I autosomal dominant polycystic kidney disease
(ADPKD 1), encodes a large protein of novel structure and unknown function and …