Associated Papers
A farnesoid X receptor T296I variant disrupts ligand-induced FXR activation and thus bile acid transport in progressive familial intrahepatic cholestasis.
Behrendt A et al.
The Journal of Biological Chemistry, 2025
NR1H4 mutation and rapid progressive intrahepatic cholestasis in infancy: A case report and literature review.
Yang CY et al.
Clinical Case Reports, 2024
Rare variant contribution to cholestatic liver disease in a South Asian population in the United Kingdom.
Zöllner J et al.
Scientific Reports, 2023
Population-based meta-analysis and gene-set enrichment identifies FXR/RXR pathway as common to fatty liver disease and serum lipids.
Handelman SK et al.
Hepatology Communications, 2022
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD et al.
Nature, 2021
Targeting FXR in Cholestasis.
Keitel V et al.
Handbook of Experimental Pharmacology, 2019
Nuclear receptor FXR, bile acids and liver damage: Introducing the progressive familial intrahepatic cholestasis with FXR mutations.
Cariello M et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2018
A rare missense variant in NR1H4 associates with lower cholesterol levels.
Deaton AM et al.
Communications Biology, 2018
Genetic disorders of nuclear receptors.
Achermann JC et al.
The Journal of Clinical Investigation, 2017
The pathophysiology of intrahepatic cholestasis of pregnancy.
Dixon PH et al.
Clinics and Research in Hepatology and Gastroenterology, 2016
Farnesoid x receptor in human metabolism and disease: the interplay between gene polymorphisms, clinical phenotypes and disease susceptibility.
Koutsounas I et al.
Expert Opinion on Drug Metabolism & Toxicology, 2015
The etiology of intrahepatic cholestasis of pregnancy: towards solving a monkey puzzle.
Webb GJ et al.
The American Journal of Gastroenterology, 2014
Impact of global Fxr deficiency on experimental acute pancreatitis and genetic variation in the FXR locus in human acute pancreatitis.
Nijmeijer RM et al.
Plos One, 2014
A novel heterozygous NR1H4 termination codon mutation in idiopathic infantile cholestasis.
Chen XQ et al.
World Journal of Pediatrics : Wjp, 2012
Farnesoid X receptor (FXR) activation and FXR genetic variation in inflammatory bowel disease.
Nijmeijer RM et al.
Plos One, 2011
The role of FXR in disorders of bile acid homeostasis.
Eloranta JJ et al.
Physiology (bethesda, Md.), 2008
Molecular pathogenesis of intrahepatic cholestasis of pregnancy.
Arrese M et al.
Expert Reviews in Molecular Medicine, 2008
Functional variants of the central bile acid sensor FXR identified in intrahepatic cholestasis of pregnancy.
Van Mil SW et al.
Gastroenterology, 2007