ArticleNature communications2016
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.
Article in Nature communications, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 124 papers, 2 of them syntheses that pooled it.
What it found
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Who cites it
124 citing papers in PubMed, 2 syntheses or guidelines pooled it, 290 citations in OpenAlex.
- Performance of preclinical models in predicting drug-induced liver injury in humans: a systematic review.Scientific reports · 2021Pooled it
- Response Rate and Impact on Lipid Profiles of Obeticholic Acid Treatment for Patients with Primary Biliary Cholangitis: A Meta-Analysis.Canadian journal of gastroenterology & hepatology · 2021Pooled it
- Genetic testing in liver diseases: Clinical applications.JHEP reports : innovation in hepatology · 2026Review
- Farnesoid x Receptor Deficiency Promotes Hepatocytic Injury in Cyp2c70-Deficient Mice With a Human-Like Bile Acid Composition.Liver international : official journal of the International Association for the Study of the Liver · 2026Article
- FXR-YAP signalling maintains biliary epithelial cell identity and preserves liver homeostasis.Nature metabolism · 2026Article
- FXR's double life in bile ducts.Nature metabolism · 2026Article
- Beyond the Very Important Pharmacogenes (VIPs): Uncovering Shadow Pharmacogenes in the Human Drug Response Network.ACS omega · 2026Article
- Sex-specific KDM6A-HNF4A-CREBH network controls lipoprotein cholesterol metabolism and atherosclerosis via epigenetic reprograming of hepatocytes.Nature communications · 2026Article
- Beyond the Pump: The Evolving Molecular Landscape of Intrahepatic Cholestasis.Diagnostics (Basel, Switzerland) · 2026Review
- Challenges in the diagnosis and treatment of genetic cholestasis in adults.JHEP reports : innovation in hepatology · 2026Review
- Article
- Unfolding the genetic map of monogenic liver diseases in Egypt.Human genetics · 2025Article
- The history and future of bile acid therapies.Journal of hepatology · 2025Article
- Progressive familial intrahepatic cholestasis type 5 due to a novel mutation in the NR1H4 gene.BMC pediatrics · 2025Article
- iPSC-based hepatic organoids reveal a heterozygous MYO5B variant as driver of intrahepatic cholestasis.Hepatology communications · 2025Article
- Liver Metabolism at the Crossroads: The Reciprocal Control of Nutrient-Sensing Nuclear Receptors and Autophagy.International journal of molecular sciences · 2025Review
- Genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art review.Orphanet journal of rare diseases · 2025Review
- Alternative splicing is an FXRα loss-of-function mechanism and impacts energy metabolism in hepatocarcinoma cells.The Journal of biological chemistry · 2025Article
- Bile Acid Signaling in Metabolic and Inflammatory Diseases and Drug Development.Pharmacological reviews · 2024Review
- Progressive familial intrahepatic cholestasis type 4: a case report.Journal of medical case reports · 2024Article
64 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
29 authors at 9 institutions in 3 countries.
Funding
Abstract
Neonatal cholestasis is a potentially life-threatening condition requiring prompt diagnosis. Mutations in several different genes can cause progressive familial intrahepatic cholestasis, but known genes cannot account for all familial cases. Here we report four individuals from two unrelated families with neonatal cholestasis and mutations in NR1H4, which encodes the farnesoid X receptor (FXR), a bile acid-activated nuclear hormone receptor that regulates bile acid metabolism. Clinical features of severe, persistent NR1H4-related cholestasis include neonatal onset with rapid progression to end-stage liver disease, vitamin K-independent coagulopathy, low-to-normal serum gamma-glutamyl transferase activity, elevated serum alpha-fetoprotein and undetectable liver bile salt export pump (ABCB11) expression. Our findings demonstrate a pivotal function for FXR in bile acid homeostasis and liver protection.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.