Associated Papers
Clinical, genetic and functional perspectives on ATP-binding cassette subfamily B member 4 variants in five cholestasis adults.
Weng YH et al.
World Journal of Gastroenterology, 2025
A family with gallstone disease: defining inherited risk in the era of clinical genetic testing.
Weber SN et al.
Internal and Emergency Medicine, 2025
Diagnostic Uptake of Targeted Sequencing in Adults With Steatotic Liver Disease and a Suspected Genetic Contribution.
Ronzoni L et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 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
Identification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3.
Wang S et al.
Scientific Reports, 2024
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
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
Recent updates on progressive familial intrahepatic cholestasis types 1, 2 and 3: Outcome and therapeutic strategies.
Alam S et al.
World Journal of Hepatology, 2022
Clinical profile and screening of exon 6 and 14 of ABCB4 gene in obstetric cholestasis patients at a tertiary care hospital in Rawalpindi, Pakistan.
Noor N et al.
Jpma. the Journal of the Pakistan Medical Association, 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
Novel ABCB4 mutation in a Chinese female patient with progressive familial intrahepatic cholestasis type 3: a case report.
Wu Z et al.
Diagnostic Pathology, 2020
ABCB4 Gene Aberrations in Human Liver Disease: An Evolving Spectrum.
Reichert MC et al.
Seminars in Liver Disease, 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
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
Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3.
Sun HZ et al.
World Journal of Gastroenterology, 2015
Correlation between mutation of MDR3 gene exon 6 and parenteral nutrition-associated cholestasis of preterm infants.
Yang XF et al.
Experimental and Therapeutic Medicine, 2014
Successful management of severe intrahepatic cholestasis of pregnancy: report of a first Japanese case.
Kamimura K et al.
Bmc Gastroenterology, 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
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
Linkage between a new splicing site mutation in the MDR3 alias ABCB4 gene and intrahepatic cholestasis of pregnancy.
Schneider G et al.
Hepatology (baltimore, Md.), 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
ABCB4 disease: Many faces of one gene deficiency.
Sticova E et al.
Annals of Hepatology, 0