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 …

The identification of the primary defect in autosomal dominant polycystic kidney disease
(ADPKD) by biochemical methods has proved difficult because of the complexity of the cystic …

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 …

Polycystin-1 expression in PKD1, early-onset PKD1, and TSC2/PKD1 cystic tissue.
Background The mutational mechanism responsible for cyst formation in polycystic kidney …

The human PKD2 locus encodes Polycystin-2 (PC2), a TRPP channel that localises to
several distinct cellular compartments, including the cilium. PKD2 mutations cause …

Mutations in the polycystins PC1 or PC2 cause autosomal dominant polycystic kidney
disease (ADPKD), which is characterized by the formation of fluid-filled renal cysts that …

Naturally occurring mutations in two separate genes, PKD1 and PKD2, are responsible for
the vast majority of all cases of autosomal dominant polycystic kidney disease (ADPKD), one …

Polycystin-1, the protein product of the polycystic kidney disease-1 (PKD1) gene, was
originally predicted to be an integral membrane glycoprotein with 11 transmembrane (TM) …

Autosomal dominant polycystic kidney disease (PKD) is caused by mutation of polycystin-1
or polycystin-2. Polycystin-2 is a Ca 2+-permeable cation channel. Polycystin-1 is an integral …

We identified a developmentally regulated gene from mouse kidney whose expression is up-
regulated in metanephrogenic mesenchyme cells when they are induced to differentiate to …