Associated Papers
Odevixibat for Episodic Intrahepatic Cholestasis due to Biallelic Mutations in ATP8B1: A Case Series.
Di Giorgio A et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Synthesis and Evaluation of Bithiazole Derivatives As Potential α-Sarcoglycan Correctors.
Ribaudo G et al.
Acs Medicinal Chemistry Letters, 2023
Influence of the Bile Acid Transporter Genes ABCB4, ABCB8, and ABCB11 and the Farnesoid X Receptor on the Response to Ursodeoxycholic Acid in Patients with Nonalcoholic Steatohepatitis.
Kreimeyer H et al.
Journal of Personalized Medicine, 2023
Common and rare variants in patients with early onset drusen maculopathy.
de Breuk A et al.
Clinical Genetics, 2022
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
Almes M et al.
Diagnostics (basel, Switzerland), 2022
Common ABCB4 and ABCB11 Genotypes Are Associated with Idiopathic Chronic Cholestasis in Adults.
Jüngst C et al.
Digestive Diseases (basel, Switzerland), 2022
Case Report: A Rare Heterozygous ATP8B1 Mutation in a BRIC1 Patient: Haploinsufficiency?
Bing H et al.
Frontiers in Medicine, 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
Long-Term Colestyramine Treatment Prevents Cholestatic Attacks in Refractory Benign Recurrent Intrahepatic Cholestasis Type 1 Disease.
Koukoulioti E et al.
Hepatology (baltimore, Md.), 2021
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Nonsense variant of ATP8B1 gene in heterozygosis and benign recurrent intrahepatic cholestasis: A case report and review of literature.
Piazzolla M et al.
World Journal of Hepatology, 2020
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
Repairing folding-defective α-sarcoglycan mutants by CFTR correctors, a potential therapy for limb-girdle muscular dystrophy 2D.
Carotti M et al.
Human Molecular Genetics, 2018
Persisting hyperbilirubinemia in patients with paroxysmal nocturnal hemoglobinuria (PNH) chronically treated with eculizumab: The role of hepatocanalicular transporter variants.
Alashkar F et al.
European Journal of Haematology, 2017
NOD2 gene variants confer risk for secondary sclerosing cholangitis in critically ill patients.
Jüngst C et al.
Scientific Reports, 2017
Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments.
Hegde RN et al.
Tissue & Cell, 2017
Current and future therapies for inherited cholestatic liver diseases.
van der Woerd WL et al.
World Journal of Gastroenterology, 2017
A Novel Truncation Mutation in ATP8B1 Gene in Progressive Familial Intrahepatic Cholestasis.
Sharma A et al.
Indian Pediatrics, 2016
Rescue of defective ATP8B1 trafficking by CFTR correctors as a therapeutic strategy for familial intrahepatic cholestasis.
van der Woerd WL et al.
Journal of Hepatology, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency.
Wang NL et al.
Plos One, 2016
Characterization and treatment of persistent hepatocellular secretory failure.
van Dijk R et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2015
Analysis of aberrant pre-messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNA.
van der Woerd WL et al.
Hepatology (baltimore, Md.), 2015
Phospholipid flippase activities and substrate specificities of human type IV P-type ATPases localized to the plasma membrane.
Takatsu H et al.
The Journal of Biological Chemistry, 2014
Mutational analysis of ATP8B1 in patients with chronic pancreatitis.
van der Woerd WL et al.
Plos One, 2013
Analysis of gene mutations in children with cholestasis of undefined etiology.
Matte U et al.
Journal of Pediatric Gastroenterology and Nutrition, 2010
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
Genetics of cholestatic liver disease in 2010.
Karlsen TH et al.
Current Opinion in Gastroenterology, 2010
ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history.
Davit-Spraul A et al.
Hepatology (baltimore, Md.), 2010
Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT.
Liu LY et al.
Journal of Pediatric Gastroenterology and Nutrition, 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
Genetic testing in other GI diseases.
Hodgson S et al.
Best Practice & Research. Clinical Gastroenterology, 2009
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
Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis.
Liu C et al.
Gastroenterology, 2007
Normal pancreatic secretion in children with progressive familial intrahepatic cholestasis type 1.
Walkowiak J 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
Progressive familial intrahepatic cholestasis: genetic disorders of biliary transporters.
Harris MJ et al.
Journal of Gastroenterology and Hepatology, 2005
Indel in the FIC1/ATP8B1 gene-a novel rare type of mutation associated with benign recurrent intrahepatic cholestasis.
Jirsa M et al.
Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2004
Characterization of mutations in ATP8B1 associated with hereditary cholestasis.
Klomp LW et al.
Hepatology (baltimore, Md.), 2004
FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels.
Chen HL et al.
The Journal of Pediatrics, 2002
A missense mutation in FIC1 is associated with greenland familial cholestasis.
Klomp LW et al.
Hepatology (baltimore, Md.), 2000
[Recurrent familial intrahepatic cholestasis in the Faroe Islands].
Steig B et al.
Ugeskrift for Laeger, 1999
Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity.
Tygstrup N et al.
Hepatology (baltimore, Md.), 1999