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
Rare variant contribution to cholestatic liver disease in a South Asian population in the United Kingdom.
Zöllner J et al.
Scientific Reports, 2023
Native liver survival in bile salt export pump deficiency: results of a retrospective cohort study.
Pfister ED et al.
Hepatology Communications, 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
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
Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.
Aboul-Soud MAM et al.
Saudi Journal of Biological Sciences, 2021
Genetic Analysis of Patients With Sickle Cell Anemia and Stroke Before 4 Years of Age Suggest an Important Role for Apoliprotein E.
Brewin JN et al.
Circulation. Genomic and Precision Medicine, 2020
Statin-Related Myotoxicity: A Comprehensive Review of Pharmacokinetic, Pharmacogenomic and Muscle Components.
Turner RM et al.
Journal of Clinical Medicine, 2019
Targeted next generation sequencing as a tool for precision medicine.
Gulilat M et al.
Bmc Medical Genomics, 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
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
Recent advances in the exploration of the bile salt export pump (BSEP/ABCB11) function.
Telbisz Á et al.
Expert Opinion on Therapeutic Targets, 2016
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
The bile salt export pump (BSEP) in health and disease.
Kubitz R et al.
Clinics and Research in Hepatology and Gastroenterology, 2012
NR1H4 analysis in patients with progressive familial intrahepatic cholestasis, drug-induced cholestasis or intrahepatic cholestasis of pregnancy unrelated to ATP8B1, ABCB11 and ABCB4 mutations.
Davit-Spraul A 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
Role of the bile salt export pump, BSEP, in acquired forms of cholestasis.
Stieger B
Drug Metabolism Reviews, 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
Recent insights into the function and regulation of the bile salt export pump (ABCB11).
Stieger B
Current Opinion in Lipidology, 2009
Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing.
Byrne JA et al.
Hepatology (baltimore, Md.), 2009
The bile salt export pump.
Stieger B et al.
Pflugers Archiv : European Journal of Physiology, 2007
Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury.
Lang C et al.
Pharmacogenetics and Genomics, 2007
Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11).
Lang T et al.
Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2006
The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.
Ferraro TN et al.
Epilepsy & Behavior : E&b, 2005
BSEP and MDR3 haplotype structure in healthy Caucasians, primary biliary cirrhosis and primary sclerosing cholangitis.
Pauli-Magnus C et al.
Hepatology (baltimore, Md.), 2004
Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy.
Pauli-Magnus C et al.
Pharmacogenetics, 2004