Associated Papers
Genetic Variants Affect Distinct Metabolic Pathways in Pediatric Multisystem Inflammatory Syndrome and Severe COVID-19.
Urbanski AH et al.
Journal of Medical Virology, 2025
Novel ABCB4 mutation in a female patient with progressive familial intrahepatic cholestasis type 3: a case report and literature review.
Sharabati I et al.
Annals of Medicine and Surgery (2012), 2025
Odevixibat as an adjunctive treatment for refractory pruritus in rare variants of cholestatic liver disease.
Goel A et al.
Jpgn Reports, 2024
Clinical outcomes of ABCB4 heterozygosity in infants and children with cholestatic liver disease.
Hegarty R et al.
Journal of Pediatric Gastroenterology and Nutrition, 2024
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
Kong XF et al.
Scientific Reports, 2023
Hepatology Genome Rounds: An interdisciplinary approach to integrate genomic data into clinical practice.
Chung DH et al.
Journal of Hepatology, 2023
Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy.
Gonzales E et al.
Jhep Reports : Innovation in Hepatology, 2023
Advancing diagnosis and management of liver disease in adults through exome sequencing.
Zheng M et al.
Ebiomedicine, 2023
A BCB4 variant is associated with hepatobiliary MR abnormalities in people with low-phospholipid-associated cholelithiasis syndrome.
Biyoukar M et al.
Jhep Reports : Innovation in Hepatology, 2022
Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1.
Nayagam JS et al.
Hepatology Communications, 2022
Genetic Analysis of ABCB4 Mutations and Variants Related to the Pathogenesis and Pathophysiology of Low Phospholipid-Associated Cholelithiasis.
Wang HH et al.
Genes, 2022
A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation.
Vujkovic M et al.
Nature Genetics, 2022
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
Almes M et al.
Diagnostics (basel, Switzerland), 2022
Mutation Analysis and Disease Features at Presentation in a Multi-Center Cohort of Children With Monogenic Cholestasis.
Hertel PM et al.
Journal of Pediatric Gastroenterology and Nutrition, 2021
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.
Sallevelt SCEH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities.
Dong C et al.
Jhep Reports : Innovation in Hepatology, 2021
Carriers of ABCB4 gene variants show a mild clinical course, but impaired quality of life and limited risk for cholangiocarcinoma.
de Vries E et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2020
Clinical utility of genomic analysis in adults with idiopathic liver disease.
Hakim A et al.
Journal of Hepatology, 2019
Comparison of in silico prediction and experimental assessment of ABCB4 variants identified in patients with biliary diseases.
Khabou B et al.
The International Journal of Biochemistry & Cell Biology, 2017
Targeted pharmacotherapies for defective ABC transporters.
Vauthier V et al.
Biochemical Pharmacology, 2017
Hepatic MDR3 expression impacts lipid homeostasis and susceptibility to inflammatory bile duct obstruction in neonates.
Carey AN et al.
Pediatric Research, 2017
Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments.
Hegde RN et al.
Tissue & Cell, 2017
Heterozygous ABCB4 mutations in children with cholestatic liver disease.
Gordo-Gilart R et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2016
Functional Rescue of Trafficking-Impaired ABCB4 Mutants by Chemical Chaperones.
Gordo-Gilart R et al.
Plos One, 2016
Genetic contributors and modifiers of biliary atresia.
Mezina A et al.
Digestive Diseases (basel, Switzerland), 2015
Repository of mutations from Oman: The entry point to a national mutation database.
Rajab A et al.
F1000research, 2015
Integrating multiple genomic data to predict disease-causing nonsynonymous single nucleotide variants in exome sequencing studies.
Wu J et al.
Plos Genetics, 2014
Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients.
Poupon R et al.
Hepatology (baltimore, Md.), 2013
ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults.
Ziol M et al.
Gastroenterology, 2008
Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene.
Rosmorduc O et al.
Orphanet Journal of Rare Diseases, 2007
Function and pathophysiological importance of ABCB4 (MDR3 P-glycoprotein).
Oude Elferink RP et al.
Pflugers Archiv : European Journal of Physiology, 2007
ABCB4 gene mutation-associated cholelithiasis in adults.
Rosmorduc O et al.
Gastroenterology, 2003
Progressive familial intrahepatic cholestasis type 3 revealed by oral contraceptive pills.
Ganne-Carrié N et al.
Journal of Hepatology, 2003
The cholangiographic features of severe forms of ABCB4/MDR3 deficiency-associated cholangiopathy in adults.
Poupon R et al.
Gastroenterologie Clinique Et Biologique, 0