Recent advances in defining the genetic mechanisms of disease causation and modification
in autosomal dominant polycystic kidney disease (ADPKD) have helped to explain some …

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 …

Abstract Characterization of the polycystic kidney disease 1 (PKD1) gene has been
complicated by genomic rearrangements on chromosome 16. We have used an exon linking …

Autosomal recessive polycystic kidney disease (ARPKD) is characterized by dilation of
collecting ducts and by biliary dysgenesis and is an important cause of renal-and liver …

Germline mutations in PKD2 cause autosomal dominant polycystic kidney disease. We have
introduced a mutant exon 1 in tandem with the wild-type exon 1 at the mouse Pkd2 locus …

Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic
kidney disease that presents primarily in infancy and childhood and that is characterized by …

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

Analysis of the C-terminal cytosolic domain of human and mouse polycystin-1 has identified
a number of conserved protein motifs, including a 20-amino-acid heterotrimeric G-protein …

The congenital polycystic kidney (cpk) mutation is the most extensively characterized mouse
model of polycystic kidney disease (PKD). The renal cystic disease is fully expressed in …