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
Progressive familial intrahepatic cholestasis-outcome and time to transplant after biliary diversion according to genetic subtypes.
Sahloul A et al.
Frontiers in Surgery, 2023
A taxonomic schema of potential pitfalls in clinical variant analysis based on real-world evidence.
Coovadia A et al.
Plos One, 2023
Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.
D'Agostino Y et al.
Diagnostics (basel, Switzerland), 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
Review article: liver disease in adults with variants in the cholestasis-related genes ABCB11, ABCB4 and ATP8B1.
Nayagam JS et al.
Alimentary Pharmacology & Therapeutics, 2020
Should patients with symptomatic cholelithiasis before 30 years of age be tested for ABCB4 gene mutations?
Gouveia C et al.
Scandinavian Journal of Gastroenterology, 2020
Severe and protracted cholestasis in 44 young men taking bodybuilding supplements: assessment of genetic, clinical and chemical risk factors.
Stolz A et al.
Alimentary Pharmacology & Therapeutics, 2019
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
An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy.
Dixon PH et al.
Scientific Reports, 2017
NOD2 gene variants confer risk for secondary sclerosing cholangitis in critically ill patients.
Jüngst C et al.
Scientific Reports, 2017
Clinical Applicability of Whole-Exome Sequencing Exemplified by a Study in Young Adults with the Advanced Cryptogenic Cholestatic Liver Diseases.
Kulecka M et al.
Gastroenterology Research and Practice, 2017
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
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
Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy.
Painter JN et al.
European Journal of Human Genetics : Ejhg, 2005
Prolonged cholestasis triggered by hepatitis A virus infection and variants of the hepatocanalicular phospholipid and bile salt transporters.
Krawczyk M et al.
Annals of Hepatology, 0