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
40513781 (PubMed )
Supplement: mmc1.xlsx › Supplemental_Table_1
Structural basis of bile salt extrusion and small-molecule inhibition in human BSEP.
Liu H et al.
Nature Communications, 2023
Long-Term Results of Pediatric Liver Transplantation for Progressive Familial Intrahepatic Cholestasis.
Hang C et al.
Journal of Clinical Medicine, 2022
36012923 (PubMed )
Supplement: jcm-11-04684-s001.zip › jcm-1802822-Table_S1.xlsx › Table_S1
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
34283047 (PubMed )
Supplement: cancers-13-03341-s001.zip › 2_Supplementary_table_S2A_2B.xlsx › Suppl_Table_2A
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
Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China.
Zhang W et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2020
The bile salt export pump (BSEP) in health and disease.
Kubitz R et al.
Clinics and Research in Hepatology and Gastroenterology, 2012
The transporter "variome": the missing link between gene variants and bile salt transporter function.
Müllenbach R et al.
Hepatology (baltimore, Md.), 2009
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