Summary The Polycystic Kidney Disease 2 (Pkd2) gene is mutated in autosomal dominant
polycystic kidney disease (ADPKD), one of the most common human monogenic disorders …

Abstract PKD2L1, also termed TRPP3 from the TRPP subfamily (polycystic TRP channels),
is involved in the sour sensation and other pH-dependent processes. PKD2L1 is believed to …

Autosomal dominant polycystic kidney disease (ADPKD) is caused by germline mutations of
PKD1 or PKD2 on one allele and a somatic mutation inactivating the remaining normal …

Autosomal dominant polycystic kidney disease (ADPKD) is characterized by cyst formation
in the kidney, liver, and pancreas and is associated often with cardiovascular abnormalities …

Mutations in the polycystin genes, PKD1 or PKD2, results in Autosomal Dominant Polycystic
Kidney Disease (ADPKD). Although a genetic basis of ADPKD is established, we lack a …

Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in PKD1
and PKD2. The products of these genes associate to form heteromeric complexes. Several …

Background Autosomal dominant polycystic kidney disease (ADPKD) is a ciliopathy caused
by mutations in PKD1 and PKD2 that is characterized by renal tubular epithelial cell …

In total, 1 in 1000 individuals carries a germline mutation in the PKD1 or PKD2 gene, which
leads to autosomal dominant polycystic kidney disease (ADPKD). Cysts can form early in life …

Mutations in the PKD1 gene are the most common cause of autosomal dominant polycystic
kidney disease (ADPKD). Other PKD1-like loci on chromosome 16 are approximately 97 …

Polycystic kidney disease (PKD) is a disease of the nephron, characterized by the formation
of multiple renal tubular cysts, leading to endstage renal failure. The most common form is …