Loss of zebrafish pkd1l1 causes biliary defects that have implications for biliary atresia splenic malformation

• Published in: Disease models & mechanisms Vol. 16; no. 10
• Main Authors: Ali, Rouknuddin Q, Meyer-Miner, Anne, David-Rachel, Marie, Lee, Fiona J H, Wilkins, Benjamin J, Karpen, Saul J, Ciruna, Brian, Ghanekar, Anand, Kamath, Binita M
• Format: Journal Article
• Language: English
• Published: England The Company of Biologists Ltd 01.10.2023; The Company of Biologists
• Subjects: Abnormalities, Multiple; Animals; bile duct; Biliary Atresia; Biliary Tract; ciliopathy; crispr/cas9; laterality; Membrane Proteins - genetics; ped6; Spleen; Zebrafish - genetics; Ciliopathy; PED6; CRISPR/Cas9; Laterality; Bile duct

Biliary atresia is a fibroinflammatory neonatal disease with no effective therapies. A subset of cases (10-20%) is associated with laterality defects - labeled biliary atresia splenic malformation (BASM) syndrome. Recently, whole-exome sequencing of patients with BASM identified deleterious variants...