{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,15]],"date-time":"2026-08-15T19:53:57Z","timestamp":1786823637173,"version":"build-2736575974"},"reference-count":149,"publisher":"Georg Thieme Verlag KG","issue":"03","funder":[{"name":"NIH","award":["T32GM008490"],"award-info":[{"award-number":["T32GM008490"]}]},{"name":"NIH","award":["F31DK137565"],"award-info":[{"award-number":["F31DK137565"]}]},{"DOI":"10.13039\/100015658","name":"Mason Trust","doi-asserted-by":"crossref","award":["NIH R01DK135815"],"award-info":[{"award-number":["NIH R01DK135815"]}],"id":[{"id":"10.13039\/100015658","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Semin Liver Dis"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:p>Biliary atresia (BA) is the most prevalent serious liver disease of infancy and childhood, and the principal indication for liver transplantation in pediatrics. BA is best considered as an idiopathic panbiliary cholangiopathy characterized by obstruction of bile flow and consequent cholestasis presenting during fetal and perinatal periods. While several etiologies have been proposed, each has significant drawbacks that have limited understanding of disease progression and the development of effective treatments. Recently, modern genetic analyses have uncovered gene variants contributing to BA, thereby shifting the paradigm for explaining the BA phenotype from an acquired etiology (e.g., virus, toxin) to one that results from genetically altered cholangiocyte development and function. Herein we review recently reported genetic contributions to BA, highlighting the enhanced representation of variants in biological pathways involving ciliary function, cytoskeletal structure, and inflammation. Finally, we blend these findings as a new framework for understanding the resultant BA phenotype as a developmental cholangiopathy.<\/jats:p>","DOI":"10.1055\/a-2153-8927","type":"journal-article","created":{"date-parts":[[2023,8,15]],"date-time":"2023-08-15T22:55:57Z","timestamp":1692140157000},"page":"323-335","source":"Crossref","is-referenced-by-count":10,"title":["Genetic Contributions to Biliary Atresia: A Developmental Cholangiopathy"],"prefix":"10.1055","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2793-399X","authenticated-orcid":false,"given":"Dominick J.","family":"Hellen","sequence":"additional","affiliation":[{"name":"Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Children's Healthcare of Atlanta and Emory University School of Medicine, Atlanta, Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3379-7592","authenticated-orcid":false,"given":"Saul J.","family":"Karpen","sequence":"additional","affiliation":[{"name":"Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Children's Healthcare of Atlanta and Emory University School of Medicine, Atlanta, Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2023,9,19]]},"reference":[{"issue":"04","key":"ref1","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1097\/MPG.0000000000002450","article-title":"Biliary atresia as a disease starting in utero: implications for treatment, diagnosis, and pathogenesis","volume":"69","author":"K R Mysore","year":"2019","journal-title":"J Pediatr Gastroenterol Nutr"},{"issue":"06","key":"ref2","doi-asserted-by":"crossref","first-page":"e1428","DOI":"10.1542\/peds.2011-1869","article-title":"Patients with biliary atresia have elevated direct\/conjugated bilirubin levels shortly after birth","volume":"128","author":"S 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