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
"Shared genes, different clinical challenges: A new likely pathogenic variant in the ABCB4 gene".
Correia SR et al.
Clinics and Research in Hepatology and Gastroenterology, 2025
Identification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3.
Wang S et al.
Scientific Reports, 2024
Clinical outcomes of ABCB4 heterozygosity in infants and children with cholestatic liver disease.
Hegarty R et al.
Journal of Pediatric Gastroenterology and Nutrition, 2024
A novel heterozygous deletion in ABCB4 gene in a Chinese family with intrahepatic cholestasis of pregnancy, neonatal hyperbilirubinemia, and cholelithiasis: Case reports and literature review.
Zheng Y et al.
Molecular Genetics & Genomic Medicine, 2024
Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy.
Gonzales E et al.
Jhep Reports : Innovation in Hepatology, 2023
Advancing diagnosis and management of liver disease in adults through exome sequencing.
Zheng M et al.
Ebiomedicine, 2023
Molecular and Clinical Links between Drug-Induced Cholestasis and Familial Intrahepatic Cholestasis.
Vitale G et al.
International Journal of Molecular Sciences, 2023
Recurrent early-onset severe obstetric cholestasis in a patient with two variants in the ABCB4 gene.
Khattak MF et al.
Hepatology Forum, 2023
ABCB4 Mutations in Adults Cause a Spectrum Cholestatic Disorder Histologically Distinct from Other Biliary Disease.
Sinha A et al.
Digestive Diseases and Sciences, 2022
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
Genetics in Familial Intrahepatic Cholestasis: Clinical Patterns and Development of Liver and Biliary Cancers: A Review of the Literature.
Vitale G et al.
Cancers, 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
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
Almes M et al.
Diagnostics (basel, Switzerland), 2022
Case Report: A rare case of young adult progressive familial intrahepatic cholestasis-type 3 with a novel heterozygous pathogenic variant of ABCB4.
Zhu H et al.
Frontiers in Pediatrics, 2022
Effect of CFTR correctors on the traffic and the function of intracellularly retained ABCB4 variants.
Ben Saad A et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2021
Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities.
Dong C et al.
Jhep Reports : Innovation in Hepatology, 2021
ABCB4 variants in adult patients with cholestatic disease are frequent and underdiagnosed.
Avena A et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2021
ABCB4-alteration screening in adult-onset cholestasis.
Carbone M et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 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
Should patients with symptomatic cholelithiasis before 30 years of age be tested for ABCB4 gene mutations?
Gouveia C et al.
Scandinavian Journal of Gastroenterology, 2020
Structure of the human lipid exporter ABCB4 in a lipid environment.
Olsen JA et al.
Nature Structural & Molecular Biology, 2020
Targeted Next-Generation Sequencing in Diagnostic Approach to Monogenic Cholestatic Liver Disorders-Single-Center Experience.
Lipiński P et al.
Frontiers in Pediatrics, 2020
ABCB4/MDR3 in health and disease - at the crossroads of biochemistry and medicine.
Prescher M et al.
Biological Chemistry, 2019
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset.
Schatz SB et al.
Hepatology Communications, 2018
Diagnosis of monogenic liver diseases in childhood by next-generation sequencing.
Stalke A et al.
Clinical Genetics, 2018
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
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
Molecular characterization of exons 6, 8 and 9 of ABCB4 gene in children with Progressive Familial Intrahepatic Cholestasis type 3.
Fathy M et al.
Biomarkers : Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals, 2016
The pathophysiology of intrahepatic cholestasis of pregnancy.
Dixon PH et al.
Clinics and Research in Hepatology and Gastroenterology, 2016
ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression.
Degiorgio D et al.
Journal of Gastroenterology, 2016
Heterozygous ABCB4 mutations in children with cholestatic liver disease.
Gordo-Gilart R et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2016
Elevation of gamma-glutamyl transferase in adult: Should we think about progressive familiar intrahepatic cholestasis?
Oliveira HM et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2016
ABCB4: Insights from pathobiology into therapy.
Falguières T et al.
Clinics and Research in Hepatology and Gastroenterology, 2014
Successful management of severe intrahepatic cholestasis of pregnancy: report of a first Japanese case.
Kamimura K et al.
Bmc Gastroenterology, 2014
Molecular mechanistic explanation for the spectrum of cholestatic disease caused by the S320F variant of ABCB4.
Andress EJ et al.
Hepatology (baltimore, Md.), 2014
Molecular mechanisms for biliary phospholipid and drug efflux mediated by ABCB4 and bile salts.
Morita SY et al.
Biomed Research International, 2014
Functional Characterization of ABCB4 Mutations Found in Low Phospholipid-Associated Cholelithiasis (LPAC).
Kim TH et al.
The Korean Journal of Physiology & Pharmacology : Official Journal of the Korean Physiological Society and the Korean Society of Pharmacology, 2013
Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients.
Poupon R et al.
Hepatology (baltimore, Md.), 2013
Aspects of liver pathology in adult patients with MDR3/ABCB4 gene mutations.
Wendum D et al.
Virchows Archiv : an International Journal of Pathology, 2012
Genetic variations of bile salt transporters as predisposing factors for drug-induced cholestasis, intrahepatic cholestasis of pregnancy and therapeutic response of viral hepatitis.
Stieger B et al.
Expert Opinion on Drug Metabolism & Toxicology, 2011
Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.
Wang LL et al.
Basic & Clinical Pharmacology & Toxicology, 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
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