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Genetic Factors and Their Role in the Pathogenesis of Biliary Atresia

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单位: [1]Department of Critical Liver Diseases, Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China. [2]Liver Transplantation Center, National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Capital Medical University, Beijing, China. [3]Clinical Center for Pediatric Liver Transplantation, Capital Medical University, Beijing, China.
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关键词: Biliary Atresia gene pathology pathogenesis Single Nucleotide Polymorphism

摘要:
Biliary Atresia, a common basis for neonatal cholestasis and primary indication for Liver Transplantation, accounts for 60% of pediatric Liver Transplantations. While the pathogenesis of Biliary Atresia remains obscure, abnormalities within bile ducts and the liver, inflammation, fibrosis and cilia defects are thought to comprise the pathological basis for this condition. The findings of genetic variants in Biliary Atresia, such as Copy Number Variations and Single Nucleotide Polymorphism, are considered as essential factors in the development of this condition. In this review, we summarize and analyze these Biliary Atresia variants from a perspective of their pathological characteristics. In conclusion, such analyses may offer novel insights into the pathogenesis of Biliary Atresia and provide a foundation for future studies directed toward a better understanding and treatment of Biliary Atresia.Copyright © 2022 Wu, Zhu and Sun.

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出版当年[2021]版:
大类 | 3 区 医学
小类 | 3 区 儿科
最新[2025]版:
大类 | 4 区 医学
小类 | 3 区 儿科
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出版当年[2020]版:
Q1 PEDIATRICS
最新[2023]版:
Q2 PEDIATRICS

影响因子: 最新[2023版] 最新五年平均[2021-2025] 出版当年[2020版] 出版当年五年平均[2016-2020] 出版前一年[2019版] 出版后一年[2021版]

第一作者:
第一作者单位: [1]Department of Critical Liver Diseases, Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China. [2]Liver Transplantation Center, National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Capital Medical University, Beijing, China. [3]Clinical Center for Pediatric Liver Transplantation, Capital Medical University, Beijing, China.
通讯作者:
通讯机构: [1]Department of Critical Liver Diseases, Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China. [2]Liver Transplantation Center, National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Capital Medical University, Beijing, China. [3]Clinical Center for Pediatric Liver Transplantation, Capital Medical University, Beijing, China.
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