Associated Papers
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
Progressive familial intrahepatic cholestasis 3 Camouflaging as Wilson disease in a 12-year-old: a diagnostic Odyssey.
Panda K et al.
Gastroenterology and Hepatology From Bed to Bench, 2024
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
ABCB4 disease mimicking morbus Wilson: A potential diagnostic pitfall.
Sticova E et al.
Biomedical Papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia, 2020
Comparison of in silico prediction and experimental assessment of ABCB4 variants identified in patients with biliary diseases.
Khabou B et al.
The International Journal of Biochemistry & Cell Biology, 2017
The pathophysiology of intrahepatic cholestasis of pregnancy.
Dixon PH et al.
Clinics and Research in Hepatology and Gastroenterology, 2016
ABCB4: Insights from pathobiology into therapy.
Falguières T et al.
Clinics and Research in Hepatology and Gastroenterology, 2014
ABCB4 Disease Presenting with Cirrhosis and Copper Overload-Potential Confusion with Wilson Disease.
Shneider BL
Journal of Clinical and Experimental Hepatology, 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
A missense mutation in ABCB4 gene involved in progressive familial intrahepatic cholestasis type 3 leads to a folding defect that can be rescued by low temperature.
Delaunay JL et al.
Hepatology (baltimore, Md.), 2009
The molecular genetics of intrahepatic cholestasis of pregnancy.
Dixon PH et al.
Obstetric Medicine, 2008
Function and pathophysiological importance of ABCB4 (MDR3 P-glycoprotein).
Oude Elferink RP et al.
Pflugers Archiv : European Journal of Physiology, 2007
Intrahepatic cholestasis of pregnancy: three novel MDR3 gene mutations.
Floreani A et al.
Alimentary Pharmacology & Therapeutics, 2006
[Diagnosis of cholestatic disorders].
Geier A et al.
Medizinische Klinik (munich, Germany : 1983), 2003
A second heterozygous MDR3 nonsense mutation associated with intrahepatic cholestasis of pregnancy.
Gendrot C et al.
Journal of Medical Genetics, 2003
Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking.
Dixon PH et al.
Human Molecular Genetics, 2000