Varaico: Literature-Extracted Genetic Variants

Gene:NR1H4
Variant:p.W80R
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NR1H4

NM_001206979.2:p.W80R

Associated Papers

NR1H4 mutation and rapid progressive intrahepatic cholestasis in infancy: A case report and literature review.

Yang CY et al.

Clinical Case Reports, 2024

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

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

A novel heterozygous NR1H4 termination codon mutation in idiopathic infantile cholestasis.

Chen XQ et al.

World Journal of Pediatrics : Wjp, 2012

The role of FXR in disorders of bile acid homeostasis.

Eloranta JJ et al.

Physiology (bethesda, Md.), 2008

Functional variants of the central bile acid sensor FXR identified in intrahepatic cholestasis of pregnancy.

Van Mil SW et al.

Gastroenterology, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."