Associated Papers
Improved allele frequencies in gnomAD through local ancestry inference.
Kore P et al.
Nature Communications, 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
Improved Allele Frequencies in gnomAD through Local Ancestry Inference.
Kore P et al.
Biorxiv : the Preprint Server for Biology, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 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
Clinicopathologic Features, Genetics, Treatment, and Long-Term Outcomes in Japanese Children and Young Adults with Benign Recurrent Intrahepatic Cholestasis: A Multicenter Study.
Kato K et al.
Journal of Clinical Medicine, 2023
Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.
Felzen A et al.
Jhep Reports : Innovation in Hepatology, 2023
Genetics in Familial Intrahepatic Cholestasis: Clinical Patterns and Development of Liver and Biliary Cancers: A Review of the Literature.
Vitale G et al.
Cancers, 2022
Real-life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis.
Ito S et al.
Jpgn Reports, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Post-transplant Recurrent Bile Salt Export Pump Disease: A Form of Antibody-mediated Graft Dysfunction and Utilization of C4d.
Patel KR et al.
Journal of Pediatric Gastroenterology and Nutrition, 2017
Cholestasis After Pediatric Liver Transplantation-Recurrence of a Progressive Familial Intrahepatic Cholestasis Phenotype as a Rare Differential Diagnosis: A Case Report.
Prusinskas B et al.
Transplantation Proceedings, 2017
Clinical and ABCB11 profiles in Korean infants with progressive familial intrahepatic cholestasis.
Park JS et al.
World Journal of Gastroenterology, 2016
Bile salt export pump-reactive antibodies form a polyclonal, multi-inhibitory response in antibody-induced bile salt export pump deficiency.
Stindt J et al.
Hepatology (baltimore, Md.), 2016
Retargeting of bile salt export pump and favorable outcome in children with progressive familial intrahepatic cholestasis type 2.
Varma S et al.
Hepatology (baltimore, Md.), 2015
Effect of drug transporter pharmacogenetics on cholestasis.
Dietrich CG et al.
Expert Opinion on Drug Metabolism & Toxicology, 2014
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
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
Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.
Wang LL et al.
Basic & Clinical Pharmacology & Toxicology, 2011
Living-related liver transplantation for siblings with progressive familial intrahepatic cholestasis 2, with novel genetic findings.
Shimizu H et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2011
Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis.
Treepongkaruna S et al.
World Journal of Gastroenterology, 2009
Update on progressive familial intrahepatic cholestasis.
Alissa FT et al.
Journal of Pediatric Gastroenterology and Nutrition, 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
Mutations in bile salt export pump (ABCB11) in two children with progressive familial intrahepatic cholestasis and cholangiocarcinoma.
Scheimann AO et al.
The Journal of Pediatrics, 2007
[Diagnosis of cholestatic disorders].
Geier A et al.
Medizinische Klinik (munich, Germany : 1983), 2003
Pharmacogenetics of hepatocellular transporters.
Pauli-Magnus C et al.
Pharmacogenetics, 2003
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.
Strautnieks SS et al.
Nature Genetics, 1998
Bortezomib Therapy in Autoimmune-BSEP Disease After Liver Transplantation: Case Report With Review of the Literature.
Grotra R et al.
Journal of Clinical and Experimental Hepatology, 0