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Article: Genetics of biliary atresia: Approaches, pathological insights and challenges

TitleGenetics of biliary atresia: Approaches, pathological insights and challenges
Authors
KeywordsBiliary atresia
Genetic
Genetic predisposition
Pathology
Issue Date18-Jan-2025
PublisherElsevier
Citation
Seminars in Pediatric Surgery, 2025, v. 33, n. 6 How to Cite?
Abstract

Biliary atresia (BA) is a severe neonatal cholestatic disorder marked by fibro-obliteration of the extrahepatic and intrahepatic bile ducts. It is the most common cause of pediatric end-stage liver disease and the leading indication for liver transplantation in children. There is significant heterogeneity in the etiology, involving various genetic and environmental factors such as viral infection, immune dysregulation and genetic predisposition to defective hepatobiliary development. In this review, we discuss the strategies to uncover the genetic factors underlying BA and highlight their associated molecular and pathological mechanisms, as well as the challenges faced in this area of research.


Persistent Identifierhttp://hdl.handle.net/10722/354926
ISSN
2023 Impact Factor: 1.4
2023 SCImago Journal Rankings: 0.431

 

DC FieldValueLanguage
dc.contributor.authorLin, Qiongfen-
dc.contributor.authorTam, Paul Kwong-hang-
dc.contributor.authorTang, Clara Sze-man-
dc.date.accessioned2025-03-18T00:35:23Z-
dc.date.available2025-03-18T00:35:23Z-
dc.date.issued2025-01-18-
dc.identifier.citationSeminars in Pediatric Surgery, 2025, v. 33, n. 6-
dc.identifier.issn1055-8586-
dc.identifier.urihttp://hdl.handle.net/10722/354926-
dc.description.abstract<p>Biliary atresia (BA) is a severe neonatal cholestatic disorder marked by fibro-obliteration of the extrahepatic and intrahepatic bile ducts. It is the most common cause of pediatric end-stage liver disease and the leading indication for liver transplantation in children. There is significant heterogeneity in the etiology, involving various genetic and environmental factors such as viral infection, immune dysregulation and genetic predisposition to defective hepatobiliary development. In this review, we discuss the strategies to uncover the genetic factors underlying BA and highlight their associated molecular and pathological mechanisms, as well as the challenges faced in this area of research.<br></p>-
dc.languageeng-
dc.publisherElsevier-
dc.relation.ispartofSeminars in Pediatric Surgery-
dc.subjectBiliary atresia-
dc.subjectGenetic-
dc.subjectGenetic predisposition-
dc.subjectPathology-
dc.titleGenetics of biliary atresia: Approaches, pathological insights and challenges-
dc.typeArticle-
dc.identifier.doi10.1016/j.sempedsurg.2025.151477-
dc.identifier.scopuseid_2-s2.0-85215855617-
dc.identifier.volume33-
dc.identifier.issue6-
dc.identifier.eissn1532-9453-
dc.identifier.issnl1055-8586-

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