Renal failure is relatively common, but except in association with spina bifida or paraplegia it
is unlikely to occur as a result of disease of the CNS. Renal failure, however, commonly …

Polycystin-1 is a modular membrane protein with a long extracellular N-terminal portion that
bears several ligand-binding domains, 11 transmembrane domains, and a≥ 200 amino …

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 …

Individuals who are at risk for autosomal dominant polycystic kidney disease are often
screened by ultrasound using diagnostic criteria derived from individuals with mutations in …

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 …

Although ultrasound is commonly used for screening subjects at risk of polycystic kidney
disease 1 (PKD1), there has been no evaluation of ultrasonographic diagnostic criteria. We …

Background Although autosomal dominant polycystic kidney disease type 2 (PKD2) is
known to have a milder clinical phenotype than PKD1, neither disorder has been compared …

Autosomal dominant polycystic kidney disease (ADPKD) is a common disease and an
important cause of renal failure. It is characterized by considerable intrafamilial phenotypic …

Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder that
frequently results in renal fallure due to progressive cyst development. The major locus …

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 …