Varaico: Literature-Extracted Genetic Variants

Gene:RC3H1
Variant:p.M199R
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RC3H1

NM_172071.4:p.M199R

Associated Papers

Autosomal-dominant Roquin-1 immunodeficiency and hyperinflammation.

Nahum A et al.

The Journal of Allergy and Clinical Immunology, 2025

Junction of the redox dynamic, orchestra of signaling, and altered metabolism in regulation of T- cell lymphoma.

Singh S et al.

Frontiers in Oncology, 2023

Disrupting Roquin-1 interaction with Regnase-1 induces autoimmunity and enhances antitumor responses.

Behrens G et al.

Nature Immunology, 2021

A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation.

Tavernier SJ et al.

Nature Communications, 2019

How T cells go rogue in the absence of Roquins.

Akef A et al.

Non-coding Rna Investigation, 2018

Regnase-1 and Roquin Nonredundantly Regulate Th1 Differentiation Causing Cardiac Inflammation and Fibrosis.

Cui X et al.

Journal of Immunology (baltimore, Md. : 1950), 2017

ROQUIN signalling pathways in innate and adaptive immunity.

Athanasopoulos V et al.

European Journal of Immunology, 2016

Roquin recognizes a non-canonical hexaloop structure in the 3'-UTR of Ox40.

Janowski R et al.

Nature Communications, 2016

Molecular Pathogenesis of Peripheral T Cell Lymphoma.

Sakata-Yanagimoto M et al.

Current Hematologic Malignancy Reports, 2015

New Insights into the RNA-Binding and E3 Ubiquitin Ligase Activities of Roquins.

Zhang Q et al.

Scientific Reports, 2015

Roquin binds microRNA-146a and Argonaute2 to regulate microRNA homeostasis.

Srivastava M et al.

Nature Communications, 2015

A role for IL-10 in the transcriptional regulation of Roquin-1.

Schaefer JS et al.

Gene, 2014

A complex genomic abnormality found in a patient with antithrombin deficiency and autoimmune disease-like symptoms.

Kato I et al.

International Journal of Hematology, 2014

The ROQ domain of Roquin recognizes mRNA constitutive-decay element and double-stranded RNA.

Tan D et al.

Nature Structural & Molecular Biology, 2014

The lupus phenotype in B6.NZBc1 congenic mice reflects interactions between multiple susceptibility loci and a suppressor locus.

Cheung YH et al.

Genes and Immunity, 2011

Roquin represses autoimmunity by limiting inducible T-cell co-stimulator messenger RNA.

Yu D et al.

Nature, 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."