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- Publisher Website: 10.1016/j.sempedsurg.2025.151477
- Scopus: eid_2-s2.0-85215855617
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Article: Genetics of biliary atresia: Approaches, pathological insights and challenges
Title | Genetics of biliary atresia: Approaches, pathological insights and challenges |
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Authors | |
Keywords | Biliary atresia Genetic Genetic predisposition Pathology |
Issue Date | 18-Jan-2025 |
Publisher | Elsevier |
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 Identifier | http://hdl.handle.net/10722/354926 |
ISSN | 2023 Impact Factor: 1.4 2023 SCImago Journal Rankings: 0.431 |
DC Field | Value | Language |
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dc.contributor.author | Lin, Qiongfen | - |
dc.contributor.author | Tam, Paul Kwong-hang | - |
dc.contributor.author | Tang, Clara Sze-man | - |
dc.date.accessioned | 2025-03-18T00:35:23Z | - |
dc.date.available | 2025-03-18T00:35:23Z | - |
dc.date.issued | 2025-01-18 | - |
dc.identifier.citation | Seminars in Pediatric Surgery, 2025, v. 33, n. 6 | - |
dc.identifier.issn | 1055-8586 | - |
dc.identifier.uri | http://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.language | eng | - |
dc.publisher | Elsevier | - |
dc.relation.ispartof | Seminars in Pediatric Surgery | - |
dc.subject | Biliary atresia | - |
dc.subject | Genetic | - |
dc.subject | Genetic predisposition | - |
dc.subject | Pathology | - |
dc.title | Genetics of biliary atresia: Approaches, pathological insights and challenges | - |
dc.type | Article | - |
dc.identifier.doi | 10.1016/j.sempedsurg.2025.151477 | - |
dc.identifier.scopus | eid_2-s2.0-85215855617 | - |
dc.identifier.volume | 33 | - |
dc.identifier.issue | 6 | - |
dc.identifier.eissn | 1532-9453 | - |
dc.identifier.issnl | 1055-8586 | - |