Associated Papers
A family with gallstone disease: defining inherited risk in the era of clinical genetic testing.
Weber SN et al.
Internal and Emergency Medicine, 2025
A Rare Case of Benign Recurrent Intrahepatic Cholestasis Initially Diagnosed in Middle-age.
Liu F et al.
Alternative Therapies in Health and Medicine, 2024
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
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
Native liver survival in bile salt export pump deficiency: results of a retrospective cohort study.
Pfister ED et al.
Hepatology Communications, 2023
Hereditary spherocytosis complicated by intrahepatic cholestasis: two case reports.
Han N et al.
Annals of Translational Medicine, 2022
Long-Term Results of Pediatric Liver Transplantation for Progressive Familial Intrahepatic Cholestasis.
Hang C et al.
Journal of Clinical Medicine, 2022
A study of exons 14, 15, and 24 of the ABCB11 gene in Egyptian children with normal GGT cholestasis.
Selim N et al.
Arab Journal of Gastroenterology : the Official Publication of the Pan-arab Association of Gastroenterology, 2022
Common ABCB4 and ABCB11 Genotypes Are Associated with Idiopathic Chronic Cholestasis in Adults.
Jüngst C et al.
Digestive Diseases (basel, Switzerland), 2022
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.
Aboul-Soud MAM et al.
Saudi Journal of Biological Sciences, 2021
Benign recurrent intrahepatic cholestasis type 2 in a child: A case report and novel mutation.
Akbulut UE et al.
Turkish Archives of Pediatrics, 2021
Odevixibat and partial external biliary diversion showed equal improvement of cholestasis in a patient with progressive familial intrahepatic cholestasis.
Slavetinsky C et al.
Bmj Case Reports, 2020
Targeted next generation sequencing as a tool for precision medicine.
Gulilat M et al.
Bmc Medical Genomics, 2019
Alloimmunity and Cholestasis After Liver Transplantation in Children With Progressive Familial Intrahepatic Cholestasis.
Krebs-Schmitt D et al.
Journal of Pediatric Gastroenterology and Nutrition, 2019
Splicing analysis of rare/novel synonymous or intronic variants identified in ABCB11 heterozygotes presenting as progressive intrahepatic cholestasis with low γ-glutamyltransferase.
Wang NL et al.
Hepatology Research : the Official Journal of the Japan Society of Hepatology, 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
NOD2 gene variants confer risk for secondary sclerosing cholangitis in critically ill patients.
Jüngst C et al.
Scientific Reports, 2017
Early Diagnosis of ABCB11 Spectrum Liver Disorders by Next Generation Sequencing.
Lee SJ et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2017
In silico investigation of the impact of synonymous variants in ABCB4 gene on mRNA stability/structure, splicing accuracy and codon usage: Potential contribution to PFIC3 disease.
Khabou B et al.
Computational Biology and Chemistry, 2016
The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.
Lim CH et al.
Oncotarget, 2016
Exon-skipping and mRNA decay in human liver tissue: molecular consequences of pathogenic bile salt export pump mutations.
Dröge C et al.
Scientific Reports, 2016
Pharmacogenomic Study Reveals New Variants of Drug Metabolizing Enzyme and Transporter Genes Associated with Steady-State Plasma Concentrations of Risperidone and 9-Hydroxyrisperidone in Thai Autism Spectrum Disorder Patients.
Medhasi S et al.
Frontiers in Pharmacology, 2016
Liver transcript analysis reveals aberrant splicing due to silent and intronic variations in the ABCB11 gene.
Davit-Spraul A et al.
Molecular Genetics and Metabolism, 2014
Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing.
Hu G et al.
Molecular Medicine Reports, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
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
Association of variants of ABCB11 with transient neonatal cholestasis.
Liu LY et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2013
ABCB4 and ABCB11 mutations in intrahepatic cholestasis of pregnancy in an Italian population.
Anzivino C et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2013
Excessive bilirubin elevation in a patient with hereditary spherocytosis and intrahepatic cholestasis.
Wree A et al.
Zeitschrift Fur Gastroenterologie, 2011
Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing.
Byrne JA et al.
Hepatology (baltimore, Md.), 2009
Combined mutations of canalicular transporter proteins cause severe intrahepatic cholestasis of pregnancy.
Keitel V et al.
Gastroenterology, 2006
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