Polycystin-1 plays an essential role in renal tubular morphogenesis, and disruption of its
function causes cystogenesis in human autosomal-dominant polycystic kidney disease …

Polycystin-1 (PC1) has an essential function in renal tubular morphogenesis and disruption
of its function causes cystogenesis in human autosomal dominant polycystic kidney disease …

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 …

The primary structure of polycystin predicts a large integral membrane protein with multiple
cell recognition motifs, but its function remains unknown. Insight into polycystin's normal …

Mutations in PKD1 and PKD2, the genes that encode polycystin-1 and polycystin-2
respectively, account for almost all cases of autosomal dominant polycystic kidney disease …

Mutations of either PKD1 or PKD2 cause autosomal dominant polycystic kidney disease, a
syndrome characterized by extensive formation of renal cysts and progressive renal failure …

Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutation of one of two
genes: PKD1 (16p13. 3) or PKD2 (4q13–23). PKD1 accounts for∼ 85% of pedigrees and is …

Polycystin-1 (PC1), the PKD1 gene product, plays a critical role in renal tubule diameter
control and disruption of its function causes cyst formation in human autosomal dominant …

It is 20 years since the identification of PKD1, the major gene mutated in autosomal
dominant polycystic kidney disease (ADPKD), followed closely by the cloning of PKD2 …

Background In a majority of cases, autosomal dominant polycystic kidney disease (ADPKD)
is caused by mutations within a putative open reading frame of the PKD1 gene. The …