Pkd1l1-deficiency drives biliary atresia through ciliary dysfunction in biliary epithelial cells

Syndromic biliary atresia is a cholangiopathy characterized by fibro-obliterative changes in the extrahepatic bile duct (EHBD) and congenital malformations including laterality defects. The aetiology remains elusive and faithful animal models are lacking. Genetic syndromes provide important clues for underlying pathogenic mechanisms of disease. We investigated the role of the gene Pkd1l1 in syndromic biliary atresia pathophysiology.
Source: Journal of Hepatology - Category: Gastroenterology Authors: Tags: Research Article Source Type: research