Associated Papers
A genes and health recall study of intrahepatic cholestasis of pregnancy and cholestatic liver disease.
Constantinides M et al.
Communications Medicine, 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
ABC transporters involved in respiratory and cholestatic diseases: From rare to very rare monogenic diseases.
Lakli M et al.
Biochemical Pharmacology, 2024
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
Structural basis of bile salt extrusion and small-molecule inhibition in human BSEP.
Liu H et al.
Nature Communications, 2023
In Vitro Rescue of the Bile Acid Transport Function of ABCB11 Variants by CFTR Potentiators.
Mareux E et al.
International Journal of Molecular Sciences, 2022
Recent updates on progressive familial intrahepatic cholestasis types 1, 2 and 3: Outcome and therapeutic strategies.
Alam S et al.
World Journal of Hepatology, 2022
In vitro functional rescue by ivacaftor of an ABCB11 variant involved in PFIC2 and intrahepatic cholestasis of pregnancy.
Mareux E et al.
Orphanet Journal of Rare Diseases, 2021
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
Pharmacological Premature Termination Codon Readthrough of ABCB11 in Bile Salt Export Pump Deficiency: An In Vitro Study.
Amzal R et al.
Hepatology (baltimore, Md.), 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
Functional rescue of an ABCB11 mutant by ivacaftor: A new targeted pharmacotherapy approach in bile salt export pump deficiency.
Mareux E et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2020
Molecular Modelling and Evaluation of Hidden Information in ABCB11 Gene Mutations.
M Z et al.
Journal of Biomedical Physics & Engineering, 2019
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
The bile salt export pump (BSEP) in health and disease.
Kubitz R et al.
Clinics and Research in Hepatology and Gastroenterology, 2012