Polycystic kidney disease (PKD) is a life‐threatening genetic disorder characterized by the
presence of fluid‐filled cysts primarily in the kidneys. PKD can be inherited as autosomal …

Mutations in the polycystin proteins, PC-1 and PC-2, result in autosomal dominant polycystic
kidney disease (ADPKD) and ultimately renal failure. PC-1 and PC-2 enrich on primary cilia …

Polycystin-2 functions as a cation-permeable transient receptor potential ion channel in
kidney epithelial cells and when mutated results in human autosomal dominant polycystic …

Defects in polycystin-2, a ubiquitous transmembrane glycoprotein of unknown function, is a
major cause of autosomal dominant polycystic kidney disease (ADPKD), whose …

Autosomal dominant polycystic disease (ADPKD) is the most common form of inherited
kidney disease that results in renal failure. The understanding of the pathogenesis of …

Functional analysis of polycystin-1, the product of the gene most frequently mutated in
autosomal dominant polycystic kidney disease, has revealed that this protein is involved in …

Autosomal dominant polycystic liver disease results from mutations in PRKCSH or SEC63.
The respective gene products, glucosidase IIβ and SEC63p, function in protein translocation …

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 …

Considerable progress toward understanding pathogenesis of autosomal dominant
polycystic disease (ADPKD) has been made during the past 15 years. ADPKD is a …

Autosomal dominant polycystic kidney disease (ADPKD) is a major, inherited nephropathy
affecting over 1: 1000 of the worldwide population. It is a systemic condition with frequent …