Varaico: Literature-Extracted Genetic Variants

Gene:RIGI
Variant:p.C268F
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RIGI

NM_014314.4:p.C268F

Associated Papers

Local activation of mutant RIG-I by short noncoding Y-RNA in the kidney triggers lethal nephritis.

Satoh S et al.

Science Immunology, 2025

DDX58 variant triggers IFN-β-induced autophagy in trabecular meshwork and influences intraocular pressure.

Huang X et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024

Glaucoma in a patient with Singleton-Merten syndrome.

Rivera SS et al.

Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2023

Clinical Implications of a New DDX58 Pathogenic Variant That Causes Lupus Nephritis due to RIG-I Hyperactivation.

Peng J et al.

Journal of the American Society of Nephrology : Jasn, 2023

Double-Stranded RNA Induces Mortality in an MDA5-Mediated Type I Interferonopathy Model.

Emralino FL et al.

Journal of Immunology (baltimore, Md. : 1950), 2022

A loosened gating mechanism of RIG-I leads to autoimmune disorders.

Lei Y et al.

Nucleic Acids Research, 2022

DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation.

Prasov L et al.

Journal of Medical Genetics, 2022

The molecular mechanism of RIG-I activation and signaling.

Thoresen D et al.

Immunological Reviews, 2021

Psoriasis-like skin disorder in transgenic mice expressing a RIG-I Singleton-Merten syndrome variant.

Abu Tayeh A et al.

International Immunology, 2021

Hereditary Disorders of Cardiovascular Calcification.

Rutsch F et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2021

Immunogenetics of the Ocular Anterior Segment: Lessons from Inherited Disorders.

Serpen JY et al.

Journal of Ophthalmology, 2021

Distinct and Orchestrated Functions of RNA Sensors in Innate Immunity.

Liu G et al.

Immunity, 2020

Singleton-Merten Syndrome-like Skeletal Abnormalities in Mice with Constitutively Activated MDA5.

Soda N et al.

Journal of Immunology (baltimore, Md. : 1950), 2019

HDX-MS reveals dysregulated checkpoints that compromise discrimination against self RNA during RIG-I mediated autoimmunity.

Zheng J et al.

Nature Communications, 2018

Unified mechanisms for self-RNA recognition by RIG-I Singleton-Merten syndrome variants.

Lässig C et al.

Elife, 2018

An Update on Autoinflammatory Diseases: Interferonopathies.

Davidson S et al.

Current Rheumatology Reports, 2018

A GTPase-activating protein-binding protein (G3BP1)/antiviral protein relay conveys arteriosclerotic Wnt signals in aortic smooth muscle cells.

Ramachandran B et al.

The Journal of Biological Chemistry, 2018

RIG-I-Like Receptor Signaling in Singleton-Merten Syndrome.

Lu C et al.

Frontiers in Genetics, 2017

ATP hydrolysis by the viral RNA sensor RIG-I prevents unintentional recognition of self-RNA.

Lässig C et al.

Elife, 2015

Kinetic discrimination of self/non-self RNA by the ATPase activity of RIG-I and MDA5.

Louber J et al.

Bmc Biology, 2015

Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.

Jang MA et al.

American Journal of Human Genetics, 2015

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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."