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-1 (PC1), a 4,303-amino acid integral membrane protein of unknown function,
interacts with polycystin-2 (PC2), a 968-amino acid α-type channel subunit. Mutations in …

Most patients with autosomal dominant polycystic kidney disease (ADPKD) harbor mutations
truncating polycystin-1 (PC1) or polycystin-2 (PC2), products of the PKD1 and PKD2 genes …

Polycystin-1 (PC1) has an essential function 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 characterized by the growth of
renal cysts that ultimately destroy kidney function. Mutations in the PKD1 and PKD2 genes …

Mutations in either polycystin-2 (PC2) or polycystin-1 (PC1) proteins cause severe,
potentially lethal, kidney disorders (autosomal dominant polycystic kidney disease, ADPKD) …

Autosomal dominant polycystic kidney disease (ADPKD) is a prevalent genetic disorder
largely caused by mutations in the PKD1 and PKD2 genes that encode the transmembrane …

Mutations in the polycystins PC1 or PC2 cause autosomal dominant polycystic kidney
disease (ADPKD), which is characterized by the formation of fluid-filled renal cysts that …

Mutations to the prototypical members of the two general classes of polycystins, polycystin-1
encoded by PKD1 and polycystin-2 encoded by PKD2, underlie autosomal-dominant …

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