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
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
Clinical and ABCB11 profiles in Korean infants with progressive familial intrahepatic cholestasis.
Park JS et al.
World Journal of Gastroenterology, 2016
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
A novel ABCB11 mutation in an Iranian girl with progressive familial intrahepatic cholestasis.
Saber S et al.
Indian Journal of Human Genetics, 2013
Mutation detection in cholestatic patients using microarray resequencing of ATP8B1 and ABCB11.
McKay KE et al.
F1000research, 2013
The bile salt export pump (BSEP) in health and disease.
Kubitz R et al.
Clinics and Research in Hepatology and Gastroenterology, 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
Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis.
Treepongkaruna S et al.
World Journal of Gastroenterology, 2009
The transporter "variome": the missing link between gene variants and bile salt transporter function.
Müllenbach R et al.
Hepatology (baltimore, Md.), 2009
Diagnosis of BSEP/ABCB11 mutations in Asian patients with cholestasis using denaturing high performance liquid chromatography.
Chen HL et al.
The Journal of Pediatrics, 2008
Prenatal diagnosis of progressive familial intrahepatic cholestasis type 2.
Chen ST et al.
Journal of Gastroenterology and Hepatology, 2008
FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels.
Chen HL et al.
The Journal of Pediatrics, 2002