Associated Papers
A novel homozygous NR1H4 mutation in idiopathic elevated transaminases.
Kaya R et al.
Archivos Argentinos De Pediatria, 2026
NR1H4 mutation and rapid progressive intrahepatic cholestasis in infancy: A case report and literature review.
Yang CY et al.
Clinical Case Reports, 2024
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
Almes M et al.
Diagnostics (basel, Switzerland), 2022
35626323 (PubMed )
Supplement: diagnostics-12-01169-s001.zip › diagnostics-1660539-supplementary.pdf
Real-life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis.
Ito S et al.
Jpgn Reports, 2022
Newer variants of progressive familial intrahepatic cholestasis.
Vinayagamoorthy V et al.
World Journal of Hepatology, 2021
NR1H4-related Progressive Familial Intrahepatic Cholestasis 5: Further Evidence for Rapidly Progressive Liver Failure.
Himes RW et al.
Journal of Pediatric Gastroenterology and Nutrition, 2020
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
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.
Gomez-Ospina N et al.
Nature Communications, 2016
A novel heterozygous NR1H4 termination codon mutation in idiopathic infantile cholestasis.
Chen XQ et al.
World Journal of Pediatrics : Wjp, 2012
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