Molecular pathogenesis of ADPKD: The polycystin complex gets complex. Autosomal-
dominant polycystic kidney disease (ADPKD) is one of the most common human monogenic …

Sullivan, Lawrence P., Darren P. Wallace, and Jared J. Grantham. Epithelial Transport in
Polycystic Kidney Disease. Physiol. Rev. 78: 1165–1191, 1998.—In autosomal dominant …

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 …

PKD1 is the most common site for mutations in human autosomal dominant polycystic
kidney disease (ADPKD). ADPKD is characterized by progressive replacement of kidney …

Autosomal dominant polycystic kidney disease (ADPKD), often caused by mutations in the
PKD1 gene, is associated with life-threatening vascular abnormalities that are commonly …

Two distinct signaling pathways, involving Wnt signaling and polycystin, have been found to
be critical for normal kidney development. Renal tubulogenesis requires the presence of …

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 …

Autosomal dominant polycystic kidney disease (AD-PKD) is predominantly caused by
mutations of the gene PKD1, which encodes a large protein, polycystin, of unknown function …

Polycystin-1 (PC1), a 4,303-amino acid integral membrane protein of unknown function,
interacts with polycystin-2 (PC2), a 968-amino acid α-type channel subunit. Mutations in …

A second gene for autosomal dominant polycystic kidney disease (ADPKD), PKD2, has
been recently identified. Using antisera raised to the human PKD2 protein, polycystin-2, we …