Associated Papers
Exome Sequencing in Adults with Unexplained Liver Disease: Diagnostic Yield and Clinical Impact.
Moral K et al.
Diagnostics (basel, Switzerland), 2025
Genetic Variants and Long-Term Outcomes in Korean Children with Progressive Familial Intrahepatic Cholestasis.
Choi S et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 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
Identification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3.
Wang S et al.
Scientific Reports, 2024
Magnetic resonance imaging features of progressive familial intrahepatic cholestasis type 3.
Xu N et al.
Radiologie (heidelberg, Germany), 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Progressive familial intrahepatic cholestasis-outcome and time to transplant after biliary diversion according to genetic subtypes.
Sahloul A et al.
Frontiers in Surgery, 2023
Genetic Analysis of ABCB4 Mutations and Variants Related to the Pathogenesis and Pathophysiology of Low Phospholipid-Associated Cholelithiasis.
Wang HH et al.
Genes, 2022
The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum.
Bakır A et al.
Annals of Human Genetics, 2022
Real-life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis.
Ito S et al.
Jpgn Reports, 2022
Case series of progressive familial intrahepatic cholestasis type 3: Characterization of variants in ABCB4 in China.
Cheng J et al.
Frontiers in Medicine, 2022
A novel compound heterozygous mutation in ABCB4 gene in a pedigree with progressive familial intrahepatic cholestasis 3: a case report.
Bai J et al.
Annals of Translational Medicine, 2021
Structure of the human lipid exporter ABCB4 in a lipid environment.
Olsen JA et al.
Nature Structural & Molecular Biology, 2020
ABCB4 Gene Aberrations in Human Liver Disease: An Evolving Spectrum.
Reichert MC et al.
Seminars in Liver Disease, 2018
Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset.
Schatz SB et al.
Hepatology Communications, 2018
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
Functional defect of variants in the adenosine triphosphate-binding sites of ABCB4 and their rescue by the cystic fibrosis transmembrane conductance regulator potentiator, ivacaftor (VX-770).
Delaunay JL et al.
Hepatology (baltimore, Md.), 2017
A functional classification of ABCB4 variations causing progressive familial intrahepatic cholestasis type 3.
Delaunay JL et al.
Hepatology (baltimore, Md.), 2016
The pathophysiology of intrahepatic cholestasis of pregnancy.
Dixon PH et al.
Clinics and Research in Hepatology and Gastroenterology, 2016
Pregnancy and ABCB4 gene mutation: risk of recurrent cholelithiasis.
Elderman JH et al.
Bmj Case Reports, 2015
Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients.
Poupon R et al.
Hepatology (baltimore, Md.), 2013