Polycystin-1, the product of the PKD1 gene, is a membrane-bound multidomain protein with
a unique structure and a molecular weight of≈ 460 kD. The purpose of this study is to …

Mutations in the PKD1 gene are responsible for autosomal dominant polycystic kidney
disease (ADPKD). Although PKD1 has been cloned and shown to be expressed at high …

Mutations in the PKD1 gene are responsible for> 85% of autosomal dominant polycystic
kidney disease (ADPKD). The protein product of PKD1, polycystin-1, is a large, modular …

Polycystic kidney disease (PKD), in which epithelial cysts arise from or instead of normal
renal tubules, is one of the most common genetic diseases. It has both autosomal dominant …

Polycystin-1 is a novel protein predicted to be a large membrane-spanning glycoprotein with
an extracellular N-terminus and an intracellular C-terminus, harboring several structural …

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 …

PKD1, the gene that is mutated in approximately 85% of autosomal dominant polycystic
kidney disease (ADPKD) cases in humans, has recently been identified (Eur. PKD …

Polycystin-1 is a protein mutated in the majority of cases of autosomal dominant polycystic
kidney disease (ADPKD), but its role in the molecular pathway of tubulogenesis and …

Genetic approaches have clarified the molecular basis of many different stages of kidney
development with considerable clarity. By introducing targeted mutations in mice, a number …

Polycystin-1, the product of the major gene mutated in autosomal dominant polycystic kidney
disease (ADPKD), has been shown to associate with multiple epithelial cell junctions. Our …