Associated Papers
Functional and in silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases.
Matsell E et al.
Disease Models & Mechanisms, 2024
Activation and substrate specificity of the human P4-ATPase ATP8B1.
Dieudonné T et al.
Nature Communications, 2023
Autoinhibition and regulation by phosphoinositides of ATP8B1, a human lipid flippase associated with intrahepatic cholestatic disorders.
Dieudonné T et al.
Elife, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency.
van Wessel DBE et al.
Hepatology (baltimore, Md.), 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1.
Rhee ES et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2019
Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis.
Sharma A et al.
Bmc Gastroenterology, 2018
Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments.
Hegde RN et al.
Tissue & Cell, 2017
A Novel Truncation Mutation in ATP8B1 Gene in Progressive Familial Intrahepatic Cholestasis.
Sharma A et al.
Indian Pediatrics, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Clinical analysis of genome next-generation sequencing data using the Omicia platform.
Coonrod EM et al.
Expert Review of Molecular Diagnostics, 2013
Mutation detection in cholestatic patients using microarray resequencing of ATP8B1 and ABCB11.
McKay KE et al.
F1000research, 2013
Hepatobiliary transport in health and disease.
Chan J et al.
Clinical Lipidology, 2012
Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.
van der Woerd WL et al.
Best Practice & Research. Clinical Gastroenterology, 2010
Mutation specific drug therapy for progressive familial or benign recurrent intrahepatic cholestasis: a new tool in a near future?
Gonzales E et al.
Journal of Hepatology, 2010
Folding defects in P-type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate.
van der Velden LM et al.
Hepatology (baltimore, Md.), 2010
Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1.
Folmer DE et al.
Hepatology (baltimore, Md.), 2009
FIC1-mediated stimulation of FXR activity is decreased with PFIC1 mutations in HepG2 cells.
Koh S et al.
Journal of Gastroenterology, 2009
The membrane protein ATPase class I type 8B member 1 signals through protein kinase C zeta to activate the farnesoid X receptor.
Frankenberg T et al.
Hepatology (baltimore, Md.), 2008
Update on progressive familial intrahepatic cholestasis.
Alissa FT et al.
Journal of Pediatric Gastroenterology and Nutrition, 2008
Linkage between a new splicing site mutation in the MDR3 alias ABCB4 gene and intrahepatic cholestasis of pregnancy.
Schneider G et al.
Hepatology (baltimore, Md.), 2007
Geographical clustering and maintained health in individuals harbouring the mutation for Greenland familial cholestasis: A population-based study.
Andersen S et al.
Scandinavian Journal of Gastroenterology, 2006
ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.
Müllenbach R et al.
Gut, 2005
Genetics of familial intrahepatic cholestasis syndromes.
van Mil SW et al.
Journal of Medical Genetics, 2005
Characterization of mutations in ATP8B1 associated with hereditary cholestasis.
Klomp LW et al.
Hepatology (baltimore, Md.), 2004
Cholestasis Familiaris Groenlandica/Byler-like disease in Greenland--a population study.
Eiberg H et al.
International Journal of Circumpolar Health, 2004
Cholestasis Familiaris Groenlandica: an epidemiological, clinical and genetic study.
Nielsen IM et al.
International Journal of Circumpolar Health, 2004
[Diagnosis of cholestatic disorders].
Geier A et al.
Medizinische Klinik (munich, Germany : 1983), 2003
A missense mutation in FIC1 is associated with greenland familial cholestasis.
Klomp LW et al.
Hepatology (baltimore, Md.), 2000
[Recurrent benign intrahepatic cholestasis and their progression to familiar progressive intrahepatic cholestasis].
Alburquerque Miranda M et al.
Revista De Gastroenterologia Del Peru : Organo Oficial De La Sociedad De Gastroenterologia Del Peru, 0
Progressive familial intrahepatic cholestasis: A comprehensive review of a challenging liver disease.
Gaur K et al.
Indian Journal of Pathology & Microbiology, 0
Intrahepatic cholestasis in two omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V).
Narchi H et al.
Saudi Journal of Gastroenterology : Official Journal of the Saudi Gastroenterology Association, 0
Enigmatic functions of ATP8B1: cholestasis, inflammation, phosphoinositide flipping, and cellular homeostasis.
Prince A et al.
Cell Cycle (georgetown, Tex.), 0