Associated Papers
A genes and health recall study of intrahepatic cholestasis of pregnancy and cholestatic liver disease.
Constantinides M et al.
Communications Medicine, 2025
Identification of new correctors for traffic-defective ABCB4 variants by a high-content screening approach.
Lakli M et al.
Communications Biology, 2024
Genetic Analysis of ABCB4 Mutations and Variants Related to the Pathogenesis and Pathophysiology of Low Phospholipid-Associated Cholelithiasis.
Wang HH et al.
Genes, 2022
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
Review article: liver disease in adults with variants in the cholestasis-related genes ABCB11, ABCB4 and ATP8B1.
Nayagam JS et al.
Alimentary Pharmacology & Therapeutics, 2020
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 Gene Aberrations in Human Liver Disease: An Evolving Spectrum.
Reichert MC et al.
Seminars in Liver Disease, 2018
Comparison of in silico prediction and experimental assessment of ABCB4 variants identified in patients with biliary diseases.
Khabou B et al.
The International Journal of Biochemistry & Cell Biology, 2017
Targeted pharmacotherapies for defective ABC transporters.
Vauthier V et al.
Biochemical Pharmacology, 2017
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
Functional defect of variants in the adenosine triphosphate-binding sites of ABCB4 and their rescue by the cystic fibrosis transmembrane conductance regulator potentiator, ivacaftor (VX-770).
Delaunay JL et al.
Hepatology (baltimore, Md.), 2017
Combined features of low phospholipid-associated cholelithiasis and progressive familial intrahepatic cholestasis 3.
Poupon R et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2010
A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults.
Gotthardt D et al.
Hepatology (baltimore, Md.), 2008
Intrahepatic cholestasis of pregnancy: three novel MDR3 gene mutations.
Floreani A et al.
Alimentary Pharmacology & Therapeutics, 2006
A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis.
Lucena JF et al.
Gastroenterology, 2003