Associated Papers
Expanding the spectrum of progressive familial intrahepatic cholestasis: A report of 3 cases.
Jiao J et al.
American Journal of Clinical Pathology, 2025
Identification of new correctors for traffic-defective ABCB4 variants by a high-content screening approach.
Lakli M et al.
Communications Biology, 2024
A BCB4 variant is associated with hepatobiliary MR abnormalities in people with low-phospholipid-associated cholelithiasis syndrome.
Biyoukar M et al.
Jhep Reports : Innovation in Hepatology, 2022
36277956 (PubMed )
Supplement: mmc1.pdf
Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities.
Dong C et al.
Jhep Reports : Innovation in Hepatology, 2021
33554096 (PubMed )
Supplement: mmc1.pdf
A novel compound heterozygous mutation in ABCB4 gene in a pedigree with progressive familial intrahepatic cholestasis 3: a case report.
Bai J et al.
Annals of Translational Medicine, 2021
Structure of the human lipid exporter ABCB4 in a lipid environment.
Olsen JA et al.
Nature Structural & Molecular Biology, 2020
ABCB4/MDR3 in health and disease - at the crossroads of biochemistry and medicine.
Prescher M et al.
Biological Chemistry, 2019
ABCB4 missense mutations D243A, K435T, G535D, I490T, R545C, and S978P significantly impair the lipid floppase and likely predispose to secondary pathologies in the human population.
Andress EJ et al.
Cellular and Molecular Life Sciences : Cmls, 2017
ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression.
Degiorgio D et al.
Journal of Gastroenterology, 2016
Hepatocellular transporters and cholestasis.
Pauli-Magnus C et al.
Journal of Clinical Gastroenterology, 2005
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