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Article

The ADPKD genes<i>pkd1a/b</i>and<i>pkd2</i>regulate extracellular matrix formation

25 Mar 2010

Abstract excerpt

Mutations in polycystin1 (PKD1) account for the majority of autosomal dominant polycystic kidney disease (ADPKD). PKD1 mutations are also associated with vascular aneurysm and abdominal wall hernia, suggesting a role for polycystin1 in extracellular matrix (ECM) integrity. In zebrafish, combined knockdown of the PKD1 paralogs pkd1a and pkd1b resulted in dorsal axis curvature, hydrocephalus, cartilage and...

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PMID: 20335443
DOI: 10.1242/dmm.003194

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