Associated Papers
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
Congenital Myotonic Dystrophy with Combined Heterozygous ATP8B1/ABCB4 Mutation Leading to Progressive Cholestasis and Liver Failure.
Chiou FK et al.
Jpgn Reports, 2021
Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1.
Rhee ES et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2019
Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.
Ferkingstad E et al.
Nature Communications, 2018
Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing.
Vitale G et al.
Journal of Gastroenterology, 2018
Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants.
Dröge C et al.
Journal of Hepatology, 2017
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
Partial external biliary diversion in bile salt export pump deficiency: Association between outcome and mutation.
Ellinger P et al.
World Journal of Gastroenterology, 2017
NOD2 gene variants confer risk for secondary sclerosing cholangitis in critically ill patients.
Jüngst C et al.
Scientific Reports, 2017
Tumor Sequencing and Patient-Derived Xenografts in the Neoadjuvant Treatment of Breast Cancer.
Goetz MP et al.
Journal of the National Cancer Institute, 2017
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry.
Thareja G et al.
Bmc Genomics, 2015
Clinical analysis of genome next-generation sequencing data using the Omicia platform.
Coonrod EM et al.
Expert Review of Molecular Diagnostics, 2013
Polymorphisms in ABCB11 and ATP8B1 Associated with Development of Severe Intrahepatic Cholestasis in Hodgkin's Lymphoma.
Blackmore L et al.
Journal of Clinical and Experimental Hepatology, 2013
Mutational analysis of ATP8B1 in patients with chronic pancreatitis.
van der Woerd WL et al.
Plos One, 2013
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
ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.
Müllenbach R et al.
Gut, 2005
Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy.
Painter JN et al.
European Journal of Human Genetics : Ejhg, 2005