Associated Papers
A family with gallstone disease: defining inherited risk in the era of clinical genetic testing.
Weber SN et al.
Internal and Emergency Medicine, 2025
Genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art review.
Vitale G et al.
Orphanet Journal of Rare Diseases, 2025
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
Genetic architecture of primary biliary cholangitis: strong evidence for HLA and non-HLA risk loci.
Zhang M et al.
Frontiers in Immunology, 2025
Identification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3.
Wang S et al.
Scientific Reports, 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
Influence of the Bile Acid Transporter Genes ABCB4, ABCB8, and ABCB11 and the Farnesoid X Receptor on the Response to Ursodeoxycholic Acid in Patients with Nonalcoholic Steatohepatitis.
Kreimeyer H et al.
Journal of Personalized Medicine, 2023
Molecular and Clinical Links between Drug-Induced Cholestasis and Familial Intrahepatic Cholestasis.
Vitale G et al.
International Journal of Molecular Sciences, 2023
A common variant in the hepatobiliary phospholipid transporter ABCB4 modulates liver injury in PBC but not in PSC: prospective analysis in 867 patients.
Kruk B et al.
Orphanet Journal of Rare Diseases, 2022
Long-Term Results of Pediatric Liver Transplantation for Progressive Familial Intrahepatic Cholestasis.
Hang C et al.
Journal of Clinical Medicine, 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
Common variant p.D19H of the hepatobiliary sterol transporter ABCG8 increases the risk of gallstones in children.
Krawczyk M et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 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
Common ABCB4 and ABCB11 Genotypes Are Associated with Idiopathic Chronic Cholestasis in Adults.
Jüngst C et al.
Digestive Diseases (basel, Switzerland), 2022
Association of Drug-Metabolizing Enzyme and Transporter Gene Polymorphisms and Lipid-Lowering Response to Statins in Thai Patients with Dyslipidemia.
Vanwong N et al.
Pharmacogenomics and Personalized Medicine, 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
Genetic variant c.711A>T in the hepatobiliary phospholipid transporter ABCB4 is associated with significant liver fibrosis.
Smyk W et al.
Journal of Physiology and Pharmacology : an Official Journal of the Polish Physiological Society, 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
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
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
NOD2 gene variants confer risk for secondary sclerosing cholangitis in critically ill patients.
Jüngst C et al.
Scientific Reports, 2017
Common genetic variation and risk of gallbladder cancer in India: a case-control genome-wide association study.
Mhatre S et al.
The Lancet. Oncology, 2017
In silico investigation of the impact of synonymous variants in ABCB4 gene on mRNA stability/structure, splicing accuracy and codon usage: Potential contribution to PFIC3 disease.
Khabou B et al.
Computational Biology and Chemistry, 2016
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
A letter on ABCB4 from Iceland: On the highway to liver disease.
Lammert F et al.
Clinics and Research in Hepatology and Gastroenterology, 2015
Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3.
Sun HZ et al.
World Journal of Gastroenterology, 2015
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
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
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
ABCB4 gene mutations and single-nucleotide polymorphisms in women with intrahepatic cholestasis of pregnancy.
Bacq Y et al.
Journal of Medical Genetics, 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
Signatures of recent positive selection at the ATP-binding cassette drug transporter superfamily gene loci.
Wang Z et al.
Human Molecular Genetics, 2007
Intrahepatic cholestasis of pregnancy: the severe form is associated with common variants of the hepatobiliary phospholipid transporter ABCB4 gene.
Wasmuth HE et al.
Gut, 2007
ABCB4 gene mutations and primary sclerosing cholangitis.
Rosmorduc O et al.
Gastroenterology, 2004
ABCB4 gene mutation-associated cholelithiasis in adults.
Rosmorduc O et al.
Gastroenterology, 2003
Prolonged cholestasis triggered by hepatitis A virus infection and variants of the hepatocanalicular phospholipid and bile salt transporters.
Krawczyk M et al.
Annals of Hepatology, 0