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
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
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
Genetic background and clinical characteristics of infantile hyperammonemia.
Li M et al.
Translational Pediatrics, 2023
Native liver survival in bile salt export pump deficiency: results of a retrospective cohort study.
Pfister ED et al.
Hepatology Communications, 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
In Vitro Rescue of the Bile Acid Transport Function of ABCB11 Variants by CFTR Potentiators.
Mareux E et al.
International Journal of Molecular Sciences, 2022
Real-life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis.
Ito S et al.
Jpgn Reports, 2022
Coexistence of Three Different Mutations in a Male Infant: neurofibromatosis Type 1, Progressive Familial Intrahepatic Cholestasis Type 2 and LPIN3.
Altay D et al.
Fetal and Pediatric Pathology, 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
Pharmacological Premature Termination Codon Readthrough of ABCB11 in Bile Salt Export Pump Deficiency: An In Vitro Study.
Amzal R et al.
Hepatology (baltimore, Md.), 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
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
Functional rescue of an ABCB11 mutant by ivacaftor: A new targeted pharmacotherapy approach in bile salt export pump deficiency.
Mareux E et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 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
Recent advances in the exploration of the bile salt export pump (BSEP/ABCB11) function.
Telbisz Á et al.
Expert Opinion on Therapeutic Targets, 2016
The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency.
Wang NL et al.
Plos One, 2016
Colorectal adenomas contain multiple somatic mutations that do not coincide with synchronous adenocarcinoma specimens.
Vaqué JP et al.
Plos One, 2015
Effect of drug transporter pharmacogenetics on cholestasis.
Dietrich CG et al.
Expert Opinion on Drug Metabolism & Toxicology, 2014
The bile salt export pump (BSEP) in health and disease.
Kubitz R et al.
Clinics and Research in Hepatology and Gastroenterology, 2012
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
Update on progressive familial intrahepatic cholestasis.
Alissa FT et al.
Journal of Pediatric Gastroenterology and Nutrition, 2008
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
[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
The role of bile salt export pump mutations in progressive familial intrahepatic cholestasis type II.
Wang L et al.
The Journal of Clinical Investigation, 2002
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.
Strautnieks SS et al.
Nature Genetics, 1998