Associated Papers
Anifrolumab treatment of Singleton-Merten syndrome 2 due to a novel RIGI variant.
Hsu EE et al.
The Journal of Allergy and Clinical Immunology, 2025
A novel pathogenic mutation of DDX58 causes Singleton-Merten syndrome.
Peng S et al.
Fundamental Research, 2025
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
DDX58 and Classic Singleton-Merten Syndrome.
Ferreira CR et al.
Journal of Clinical Immunology, 2019
HDX-MS reveals dysregulated checkpoints that compromise discrimination against self RNA during RIG-I mediated autoimmunity.
Zheng J et al.
Nature Communications, 2018
Mutations of deubiquitinase OTUD1 are associated with autoimmune disorders.
Lu D et al.
Journal of Autoimmunity, 2018
Unified mechanisms for self-RNA recognition by RIG-I Singleton-Merten syndrome variants.
Lässig C et al.
Elife, 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