Polycystic kidney disease (PKD), a common genetic cause of chronic renal failure in
children and adults, is characterized by the accumulation of fluid-filled cysts in the kidney …

TRP channels constitute a large superfamily of cation channel forming proteins, all related to
the gene product of the transient receptor potential (trp) locus in Drosophila. In mammals, 28 …

Polycystin-2, the product of the gene mutated in type 2 autosomal dominant polycystic
kidney disease (ADPKD), is the prototypical member of a subfamily of the transient receptor …

Molecular pathogenesis of ADPKD: The polycystin complex gets complex. Autosomal-
dominant polycystic kidney disease (ADPKD) is one of the most common human monogenic …

Mutations in polycystins-1 and-2 (PC1 and PC2) cause autosomal dominant polycystic
kidney disease (ADPKD), which is characterized by progressive development of epithelial …

Polycystins are a family of eight-transmembrane proteins united by sequence homology.
The name stems from the identification of mutations in genes encoding polycystin-1 and-2 in …

The functions of the two proteins defective in autosomal dominant polycystic kidney disease,
polycystin-1 and polycystin-2, have not been fully clarified, but it has been hypothesized that …

Despite the recent positional cloning of the PKD1 and PKD2 genes, which are mutated in
the great majority of patients with autosomal-dominant polycystic kidney disease (PKD), the …

Autosomal dominant polycystic kidney disease (ADPKD) occurs by germline mutation in
PKD1 or PKD2. Evidence of homozygous inactivation of either gene in human cyst lining …

Autosomal-dominant polycystic kidney disease, one of the most frequent human genetic
disorders, is genetically heterogeneous. Most cases result from mutations of PKD1 or PKD2 …