Genetic alterations and molecular mechanisms underlying hereditary intrahepatic cholestasis

Hereditary cholestatic liver disease caused by a class of autosomal gene mutations results in jaundice, which involves the abnormality of the synthesis, secretion, and other disorders of bile acids metabolism. Due to the existence of a variety of gene mutations, the clinical manifestations of childr...

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Published inFrontiers in pharmacology Vol. 14; p. 1173542
Main Authors Xie, Shuying, Wei, Shizhang, Ma, Xiao, Wang, Ruilin, He, Tingting, Zhang, Zhao, Yang, Ju, Wang, Jiawei, Chang, Lei, Jing, Manyi, Li, Haotian, Zhou, Xuelin, Zhao, Yanling
Format Journal Article
LanguageEnglish
Published Switzerland Frontiers Media S.A 2023
Subjects
genetic mutation
heredity
intrahepatic cholestasis
molecular function
Pharmacology
therapy
genetic mutation
molecular function
intrahepatic cholestasis
heredity
therapy
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Summary:Hereditary cholestatic liver disease caused by a class of autosomal gene mutations results in jaundice, which involves the abnormality of the synthesis, secretion, and other disorders of bile acids metabolism. Due to the existence of a variety of gene mutations, the clinical manifestations of children are also diverse. There is no unified standard for diagnosis and single detection method, which seriously hinders the development of clinical treatment. Therefore, the mutated genes of hereditary intrahepatic cholestasis were systematically described in this review.
Bibliography:ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-3
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ObjectType-Review-1
Edited by: Pedro Miguel Rodrigues, Biodonostia Health Research Institute (IIS Biodonostia), Spain
Reviewed by: Oscar Briz, University of Salamanca, Spain
Ibone Labiano, Navarrabiomed-UPNA-IdiSNA, Spain
ISSN:1663-9812
1663-9812
DOI:10.3389/fphar.2023.1173542