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
Prime Editing for Human Gene Therapy: Where Are We Now?
Godbout K et al.
Cells, 2023
Long-Term Results of Pediatric Liver Transplantation for Progressive Familial Intrahepatic Cholestasis.
Hang C et al.
Journal of Clinical Medicine, 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
Clinical and Genetic Spectra of Inherited Liver Disease in Children in China.
Fang Y et al.
Frontiers in Pediatrics, 2021
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
Prime editing for functional repair in patient-derived disease models.
Schene IF 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
Targeted pharmacotherapies for defective ABC transporters.
Vauthier V et al.
Biochemical Pharmacology, 2017
Hypothyroidism Associated with ATP8B1 Deficiency.
Li L et al.
The Journal of Pediatrics, 2015
Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center.
Giovannoni I et al.
Plos One, 2015
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
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
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