Molecular overview of progressive familial intrahepatic cholestasis.
ABCB11/bile salt export pump
ABCB4/multidrug resistance class 3
ATP8B1/familial intrahepatic cholestasis 1
Bile
Intrahepatic cholestasis
Progressive familial intrahepatic cholestasis
Journal
World journal of gastroenterology
ISSN: 2219-2840
Titre abrégé: World J Gastroenterol
Pays: United States
ID NLM: 100883448
Informations de publication
Date de publication:
21 Dec 2020
21 Dec 2020
Historique:
received:
11
09
2020
revised:
05
11
2020
accepted:
29
11
2020
entrez:
1
1
2021
pubmed:
2
1
2021
medline:
15
5
2021
Statut:
ppublish
Résumé
Cholestasis is a clinical condition resulting from the imapairment of bile flow. This condition could be caused by defects of the hepatocytes, which are responsible for the complex process of bile formation and secretion, and/or caused by defects in the secretory machinery of cholangiocytes. Several mutations and pathways that lead to cholestasis have been described. Progressive familial intrahepatic cholestasis (PFIC) is a group of rare diseases caused by autosomal recessive mutations in the genes that encode proteins expressed mainly in the apical membrane of the hepatocytes. PFIC 1, also known as Byler's disease, is caused by mutations of the
Identifiants
pubmed: 33384548
doi: 10.3748/wjg.v26.i47.7470
pmc: PMC7754551
doi:
Substances chimiques
ATP-Binding Cassette Transporters
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
7470-7484Informations de copyright
©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
Déclaration de conflit d'intérêts
Conflict-of-interest statement: A.S.-G., is co-founder and have a financial interest in Von Baer Wolff, Inc. a company focused on biofabrication of autologous human hepatocytes from stem cells technology and programming liver failure and their interests are managed by the Conflict of Interest Office at the University of Pittsburgh in accordance with their policies
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