A second gene for autosomal dominant polycystic kidney disease was identified by
positional cloning. Nonsense mutations in this gene (PKD2) segregated with the disease in …

PKD2, the gene defective in the second form of autosomal dominant polycystic kidney
disease (ADPKD), has been identified by positional cloning and found to encode an integral …

A line of transgenic mice was generated that contains an insertional mutation causing a
phenotype similar to human autosomal recessive polycystic kidney disease. Homozygotes …

PKD1 and PKD2 are two recently identified genes that are responsible for the vast majority
of autosomal polycystic kidney disease, a common inherited disease that causes …

The function (s) of the genes (PKD1 and PKD 2) responsible for the majority of cases of
autosomal dominant polycystic kidney disease is unknown. While PKD1 encodes a large …

Autosomal dominant polycystic kidney disease (ADPKD) describes a group of at least three
genetically distinct disorders with almost identical clinical features1–6 that collectively affects …

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 …

Recently the second gene for autosomal dominant poly-cystic kidney disease (ADPKD),
located on chromosome 4q21-q22, has been cloned and characterized. The gene encodes …

The human kidney is composed of roughly 1.2-million renal tubules that must maintain their
tubular structure to function properly. In autosomal dominant polycystic kidney disease …

Mutations in the PKD1 and PKD2 genes account for 85 and 15% of cases of autosomal
dominant polycystic kidney disease, respectively. Polycystin-2, the product of the PKD2 …