Associated Papers
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
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
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
Immunogenetics of the Ocular Anterior Segment: Lessons from Inherited Disorders.
Serpen JY et al.
Journal of Ophthalmology, 2021
DDX58 and Classic Singleton-Merten Syndrome.
Ferreira CR et al.
Journal of Clinical Immunology, 2019
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