Mutations in PKD1 cause autosomal dominant polycystic kidney disease (ADPKD), a
common genetic disease in which cysts form from kidney tubules. The predicted product of …

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 …

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 …

Autosomal dominant polycystic kidney disease (ADPKD) is a common human genetic
disease characterized by cyst formation in kidney tubules and other ductular epithelia. Cells …

Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disease that
affects both adults and children. Renal cysts are the cardinal sign of the disease that also …

PKD2 encodes a protein of unknown function that is mutated in 15% of autosomal dominant
polycystic kidney disease (ADPKD) families. We used polyclonal antisera against PKD2 to …

The PKD1 protein, polycystin-1, is a large transmembrane protein of uncertain function and
topology. To study the putative functions of polycystin-1, conditionally immortalized kidney …

Polycystin-1 is the protein product of the PKD1 gene. Mutations in this gene are responsible
for most cases of polycystic kidney disease, but little is known about how these mutations …

Autosomal-dominant polycystic kidney disease, one of the most frequent human genetic
disorders, is genetically heterogeneous. Most cases result from mutations of PKD1 or PKD2 …

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 …