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
Association between ABCB4 variants and intrahepatic cholestasis of pregnancy.
Zhang D et al.
Scientific Reports, 2025
Identification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3.
Wang S et al.
Scientific Reports, 2024
Comprehensive Bile Acid Profiling of ABCB4-mutated Patients and the Prognostic Role of Taurine-conjugated 3α,6α,7α,12α-Tetrahydroxylated Bile Acid in Cholestasis.
Liu T et al.
Journal of Clinical and Translational Hepatology, 2024
MDR3 rs2109505 and rs1202283 polymorphisms are associated with susceptibility to intrahepatic cholestasis of pregnancy: A meta-analysis.
Zhuo H et al.
Advances in Clinical and Experimental Medicine : Official Organ Wroclaw Medical University, 2023
Molecular and Clinical Links between Drug-Induced Cholestasis and Familial Intrahepatic Cholestasis.
Vitale G et al.
International Journal of Molecular Sciences, 2023
Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.
Valentine H et al.
Cancer Research Communications, 2022
Genetic Analysis of ABCB4 Mutations and Variants Related to the Pathogenesis and Pathophysiology of Low Phospholipid-Associated Cholelithiasis.
Wang HH et al.
Genes, 2022
Congenital Myotonic Dystrophy with Combined Heterozygous ATP8B1/ABCB4 Mutation Leading to Progressive Cholestasis and Liver Failure.
Chiou FK et al.
Jpgn Reports, 2021
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
The association of transporter ABCC2 (MRP2) genetic variation and drug-induced hyperbilirubinemia.
Huang YS et al.
Journal of the Chinese Medical Association : Jcma, 2021
Molecular overview of progressive familial intrahepatic cholestasis.
Amirneni S et al.
World Journal of Gastroenterology, 2020
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
Phenotype-Genotype Correlation of North Indian Progressive Familial Intrahepatic Cholestasis type2 Children Shows p.Val444Ala and p.Asn591Ser Variants and Retained BSEP Expression.
Mitra S et al.
Fetal and Pediatric Pathology, 2020
Evaluation of a Novel Missense Mutation in ABCB4 Gene Causing Progressive Familial Intrahepatic Cholestasis Type 3.
Saleem K et al.
Disease Markers, 2020
The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.
Punta M et al.
Frontiers in Immunology, 2020
Progressive familial intrahepatic cholestasis type-3 and multiple sclerosis: lessons from comorbidity.
De Masi R et al.
Annals of Clinical and Translational Neurology, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
ABCB4 Gene Aberrations in Human Liver Disease: An Evolving Spectrum.
Reichert MC et al.
Seminars in Liver Disease, 2018
Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing.
Vitale G et al.
Journal of Gastroenterology, 2018
Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis.
Sharma A et al.
Bmc Gastroenterology, 2018
A Complex Case of Cholestasis in a Patient with ABCB4 and ABCB11 Mutations.
Cardoso MF et al.
Ge Portuguese Journal of Gastroenterology, 2018
Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset.
Schatz SB et al.
Hepatology Communications, 2018
The role of ABC transporters' gene polymorphism in the etiology of intrahepatic cholestasis of pregnancy.
Piątek K et al.
Ginekologia Polska, 2018
Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants.
Dröge C et al.
Journal of Hepatology, 2017
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
A Novel Truncation Mutation in ATP8B1 Gene in Progressive Familial Intrahepatic Cholestasis.
Sharma A et al.
Indian Pediatrics, 2016
A functional classification of ABCB4 variations causing progressive familial intrahepatic cholestasis type 3.
Delaunay JL et al.
Hepatology (baltimore, Md.), 2016
MDR3 mutation analysis: A step closer to precision medicine.
Bezerra JA
Hepatology (baltimore, Md.), 2016
The pathophysiology of intrahepatic cholestasis of pregnancy.
Dixon PH et al.
Clinics and Research in Hepatology and Gastroenterology, 2016
Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center.
Giovannoni I et al.
Plos One, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones.
Jirsa M et al.
World Journal of Gastroenterology, 2014
A comprehensive analysis of common genetic variation around six candidate loci for intrahepatic cholestasis of pregnancy.
Dixon PH et al.
The American Journal of Gastroenterology, 2014
Selected ABCB1, ABCB4 and ABCC2 polymorphisms do not enhance the risk of drug-induced hepatotoxicity in a Spanish cohort.
Ulzurrun E et al.
Plos One, 2014
ABCB4 and ABCB11 mutations in intrahepatic cholestasis of pregnancy in an Italian population.
Anzivino C et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2013
The hepatic phosphatidylcholine transporter ABCB4 as modulator of glucose homeostasis.
Hochrath K et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2012
Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations.
Zhang G et al.
Human Genomics, 2011
Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations.
Colombo C et al.
Journal of Pediatric Gastroenterology and Nutrition, 2011
Role of common canalicular transporter gene variations in aetiology of idiopathic gallstones in childhood.
Bronský J et al.
Folia Biologica, 2010
Multidrug resistance protein 3 R652G may reduce susceptibility to idiopathic infant cholestasis.
Chen XQ et al.
World Journal of Gastroenterology, 2009
ABCB4 gene mutations and single-nucleotide polymorphisms in women with intrahepatic cholestasis of pregnancy.
Bacq Y et al.
Journal of Medical Genetics, 2009
A new splicing site mutation of the ABCB4 gene in intrahepatic cholestasis of pregnancy with raised serum gamma-GT.
Tavian D et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2009
Common variants of ABCB4 and ABCB11 and plasma lipid levels: a study in sib pairs with gallstones, and controls.
Acalovschi M et al.
Lipids, 2009
ABCB4 sequence variations in young adults with cholesterol gallstone disease.
Nakken KE et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2009
Liver diseases related to MDR3 (ABCB4) gene deficiency.
Gonzales E et al.
Frontiers in Bioscience (landmark Edition), 2009
The molecular genetics of intrahepatic cholestasis of pregnancy.
Dixon PH et al.
Obstetric Medicine, 2008