Associated Papers
New hope in treating progressive familial intrahepatic cholestasis in children.
Mkarem LE et al.
World Journal of Hepatology, 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
40513781 (PubMed )
Supplement: mmc1.xlsx › Supplemental_Table_1
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
The ESCRT-III molecules regulate the apical targeting of bile salt export pump.
Wu SH et al.
Journal of Biomedical Science, 2021
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
Progressive familial intrahepatic cholestasis.
Davit-Spraul A et al.
Orphanet Journal of Rare Diseases, 2009
Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.
Strautnieks SS et al.
Gastroenterology, 2008
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