Associated Papers
Sirolimus may improve bile excretion in ABCB11 mutants: A case report of a patient with bile salt export pump deficiency.
Zeng T et al.
Genes & Diseases, 2025
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
Genetic alterations and molecular mechanisms underlying hereditary intrahepatic cholestasis.
Xie S et al.
Frontiers in Pharmacology, 2023
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
Almes M et al.
Diagnostics (basel, Switzerland), 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
Odevixibat and partial external biliary diversion showed equal improvement of cholestasis in a patient with progressive familial intrahepatic cholestasis.
Slavetinsky C et al.
Bmj Case Reports, 2020
Beyond an Obvious Cause of Cholestasis in a Toddler: Compound Heterozygosity for ABCB11 Mutations.
Fotoulaki M et al.
Pediatrics, 2019
Targeted pharmacotherapies for defective ABC transporters.
Vauthier V et al.
Biochemical Pharmacology, 2017
Sacral agenesis: a pilot whole exome sequencing and copy number study.
Porsch RM et al.
Bmc Medical Genetics, 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
Autoimmune BSEP disease: disease recurrence after liver transplantation for progressive familial intrahepatic cholestasis.
Kubitz R et al.
Clinical Reviews in Allergy & Immunology, 2015
Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center.
Giovannoni I et al.
Plos One, 2015
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
Nasobiliary drainage in an episode of intrahepatic cholestasis in a child with mild ABCB11 disease.
Zellos A et al.
Journal of Pediatric Gastroenterology and Nutrition, 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
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
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
Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency.
Knisely AS et al.
Hepatology (baltimore, Md.), 2006
Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11.
van Mil SW et al.
Gastroenterology, 2004