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
Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
Bazalar-Montoya J et al.
Npj Genomic Medicine, 2024
Clinical symptoms, biochemistry, and liver histology during the native liver period of progressive familial intrahepatic cholestasis type 2.
Kondou H et al.
Orphanet Journal of Rare Diseases, 2024
A novel ABCB11 variant in compound heterozygosity: BRIC2 or PFIC2?
Biolato M et al.
Gastroenterology Report, 2024
Native liver survival in bile salt export pump deficiency: results of a retrospective cohort study.
Pfister ED et al.
Hepatology Communications, 2023
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
Almes M et al.
Diagnostics (basel, Switzerland), 2022
The ESCRT-III molecules regulate the apical targeting of bile salt export pump.
Wu SH et al.
Journal of Biomedical Science, 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
Effect of food on the pharmacokinetics and therapeutic efficacy of 4-phenylbutyrate in progressive familial intrahepatic cholestasis.
Nakano S et al.
Scientific Reports, 2019
Pan-cancer whole-genome analyses of metastatic solid tumours.
Priestley P et al.
Nature, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
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
Clinical phenotype and molecular analysis of a homozygous ABCB11 mutation responsible for progressive infantile cholestasis.
Imagawa K et al.
Journal of Human Genetics, 2018
Assessment of ATP8B1 Deficiency in Pediatric Patients With Cholestasis Using Peripheral Blood Monocyte-Derived Macrophages.
Hayashi H et al.
Ebiomedicine, 2018
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.
Kopajtich R et al.
American Journal of Human Genetics, 2016
Clinical and ABCB11 profiles in Korean infants with progressive familial intrahepatic cholestasis.
Park JS et al.
World Journal of Gastroenterology, 2016
Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing.
Togawa T et al.
The Journal of Pediatrics, 2016
The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency.
Wang NL et al.
Plos One, 2016
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
A novel ABCB11 mutation in an Iranian girl with progressive familial intrahepatic cholestasis.
Saber S et al.
Indian Journal of Human Genetics, 2013
The bile salt export pump (BSEP) in health and disease.
Kubitz R et al.
Clinics and Research in Hepatology and Gastroenterology, 2012
Analysis of gene mutations in children with cholestasis of undefined etiology.
Matte U et al.
Journal of Pediatric Gastroenterology and Nutrition, 2010
Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis.
Treepongkaruna S et al.
World Journal of Gastroenterology, 2009
Diagnosis of BSEP/ABCB11 mutations in Asian patients with cholestasis using denaturing high performance liquid chromatography.
Chen HL et al.
The Journal of Pediatrics, 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
The bile salt export pump.
Stieger B et al.
Pflugers Archiv : European Journal of Physiology, 2007