Associated Papers
Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.
Tabassum I et al.
International Journal of Molecular Sciences, 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
Neoantigen landscape supports feasibility of personalized cancer vaccine for follicular lymphoma.
Ramirez CA et al.
Blood Advances, 2024
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
Kong XF et al.
Scientific Reports, 2023
Advancing diagnosis and management of liver disease in adults through exome sequencing.
Zheng M et al.
Ebiomedicine, 2023
Genetic alterations and molecular mechanisms underlying hereditary intrahepatic cholestasis.
Xie S et al.
Frontiers in Pharmacology, 2023
Single-cell sequencing reveals CD133+CD44--originating evolution and novel stemness related variants in human colorectal cancer.
Zhang X et al.
Ebiomedicine, 2022
Neonatal Cholestasis: The Changing Etiological Spectrum in Pakistani Children.
Bilal H et al.
Cureus, 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
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
Targeted pharmacotherapies for defective ABC transporters.
Vauthier V et al.
Biochemical Pharmacology, 2017
Exon-skipping and mRNA decay in human liver tissue: molecular consequences of pathogenic bile salt export pump mutations.
Dröge C et al.
Scientific Reports, 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
Biosynthesis and trafficking of the bile salt export pump, BSEP: therapeutic implications of BSEP mutations.
Soroka CJ et al.
Molecular Aspects of Medicine, 2014
Ursodeoxycholic acid stabilizes the bile salt export pump in the apical membrane in MDCK II cells.
Kagawa T et al.
Journal of Gastroenterology, 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
Morphologic findings in progressive familial intrahepatic cholestasis 2 (PFIC2): correlation with genetic and immunohistochemical studies.
Evason K et al.
The American Journal of Surgical Pathology, 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
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
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
Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11.
van Mil SW et al.
Gastroenterology, 2004