Associated Papers
Novel ABCB4 mutation in a female patient with progressive familial intrahepatic cholestasis type 3: a case report and literature review.
Sharabati I et al.
Annals of Medicine and Surgery (2012), 2025
Identification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3.
Wang S et al.
Scientific Reports, 2024
39521930 (PubMed )
Supplement: 41598_2024_79123_MOESM1_ESM.pdf
Targeted pharmacotherapies for defective ABC transporters.
Vauthier V et al.
Biochemical Pharmacology, 2017
Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments.
Hegde RN et al.
Tissue & Cell, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Functional Rescue of Trafficking-Impaired ABCB4 Mutants by Chemical Chaperones.
Gordo-Gilart R et al.
Plos One, 2016
Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity.
Gordo-Gilart R et al.
Gut, 2015
Molecular mechanisms for biliary phospholipid and drug efflux mediated by ABCB4 and bile salts.
Morita SY et al.
Biomed Research International, 2014
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