Associated Papers
An ABCB11 variant registry and novel knockin mouse model of PFIC2 based on the clinically relevant ABCB11 E297G variant.
Bell EL et al.
Journal of Lipid Research, 2025
A structural and mechanistic model for BSEP dysfunction in PFIC2 cholestatic disease.
Gruget C et al.
Communications Biology, 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
Patterns and unique features of infantile cholestasis among Arabs.
Al-Hussaini A et al.
Frontiers in Pediatrics, 2024
Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.
Felzen A et al.
Jhep Reports : Innovation in Hepatology, 2023
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
The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum.
Bakır A et al.
Annals of Human Genetics, 2022
Real-life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis.
Ito S et al.
Jpgn Reports, 2022
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
The Bile Salt Export Pump: Molecular Structure, Study Models and Small-Molecule Drugs for the Treatment of Inherited BSEP Deficiencies.
Sohail MI et al.
International Journal of Molecular Sciences, 2021
Molecular overview of progressive familial intrahepatic cholestasis.
Amirneni S et al.
World Journal of Gastroenterology, 2020
ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression.
Li LT et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Comprehensive bile acid profiling in hereditary intrahepatic cholestasis: Genetic and clinical correlations.
Liu T et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2018
Liver Transplantation as a Treatment for Severe Refractory Vitamin E Deficiency Related to Progressive Familial Intrahepatic Cholestasis Type 2 in a Pediatric Patient.
Collyer E et al.
Acg Case Reports Journal, 2016
Recent advances in the exploration of the bile salt export pump (BSEP/ABCB11) function.
Telbisz Á et al.
Expert Opinion on Therapeutic Targets, 2016
The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency.
Wang NL et al.
Plos One, 2016
Hypothyroidism Associated with ATP8B1 Deficiency.
Li L et al.
The Journal of Pediatrics, 2015
Liver transcript analysis reveals aberrant splicing due to silent and intronic variations in the ABCB11 gene.
Davit-Spraul A et al.
Molecular Genetics and Metabolism, 2014
Biosynthesis and trafficking of the bile salt export pump, BSEP: therapeutic implications of BSEP mutations.
Soroka CJ et al.
Molecular Aspects of Medicine, 2014
A novel mutation within a transmembrane helix of the bile salt export pump (BSEP, ABCB11) with delayed development of cirrhosis.
Stindt J et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2013
The bile salt export pump (BSEP) in health and disease.
Kubitz R et al.
Clinics and Research in Hepatology and Gastroenterology, 2012
Impact of drug transporter pharmacogenomics on pharmacokinetic and pharmacodynamic variability - considerations for drug development.
Lai Y et al.
Expert Opinion on Drug Metabolism & Toxicology, 2012
Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.
Wang LL et al.
Basic & Clinical Pharmacology & Toxicology, 2011
Living-related liver transplantation for siblings with progressive familial intrahepatic cholestasis 2, with novel genetic findings.
Shimizu H et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2011
Analysis of gene mutations in children with cholestasis of undefined etiology.
Matte U et al.
Journal of Pediatric Gastroenterology and Nutrition, 2010
ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history.
Davit-Spraul A et al.
Hepatology (baltimore, Md.), 2010
The bile salt export pump: clinical and experimental aspects of genetic and acquired cholestatic liver disease.
Lam P et al.
Seminars in Liver Disease, 2010
Polymorphic variants in the human bile salt export pump (BSEP; ABCB11): functional characterization and interindividual variability.
Ho RH et al.
Pharmacogenetics and Genomics, 2010
Degradation of the bile salt export pump at endoplasmic reticulum in progressive familial intrahepatic cholestasis type II.
Wang L et al.
Hepatology (baltimore, Md.), 2008
Update on progressive familial intrahepatic cholestasis.
Alissa FT et al.
Journal of Pediatric Gastroenterology and Nutrition, 2008
Phenotypic differences in PFIC2 and BRIC2 correlate with protein stability of mutant Bsep and impaired taurocholate secretion in MDCK II cells.
Kagawa T et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2008
Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases.
Lam P et al.
American Journal of Physiology. Cell Physiology, 2007
Therapy for hepatocyte transporter trafficking mutations: the time is now.
Ananthanarayanan M
Hepatology (baltimore, Md.), 2007
Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis.
Liu C et al.
Gastroenterology, 2007
Bile salt transporters: molecular characterization, function, and regulation.
Trauner M et al.
Physiological Reviews, 2003
Pharmacogenetics of hepatocellular transporters.
Pauli-Magnus C et al.
Pharmacogenetics, 2003
The role of bile salt export pump mutations in progressive familial intrahepatic cholestasis type II.
Wang L et al.
The Journal of Clinical Investigation, 2002
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.
Strautnieks SS et al.
Nature Genetics, 1998