• <em>DDX58</em>(RIG-I)-related disease is associated with tissue-specific interferon pathway activation
• <em>IFIH1</em> and <em>DDX58</em> gene variants in pediatric rheumatic diseases
• A loosened gating mechanism of RIG-I leads to autoimmune disorders
• A novel pathogenic variant p.Asp797Val in IFIH1 in a Japanese boy with overlapping Singleton-Merten syndrome and Aicardi-Goutieres syndrome
• Aicardi-Goutières syndrome type 7 in a Chinese child: A case report
• Case Report: Aicardi-Goutieres Syndrome and Singleton-Merten Syndrome Caused by a Gain-of-Function Mutation in IFIH1
• Computational Insights into the Structural Dynamics of MDA5 Variants Associated with Aicardi-Goutieres Syndrome and Singleton-Merten Syndrome
• DDX58 variant triggers IFN-β-induced autophagy in trabecular meshwork and influences intraocular pressure
• Double-Stranded RNA Induces Mortality in an MDA5-Mediated Type I Interferonopathy Model
• Early-Age Manifestation of Singleton Merten Syndrome With Systemic Lupus Erythematosus Features: A Case Report
• Glaucoma in a patient with Singleton-Merten syndrome
• Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders
• Hereditary dentin defects with systemic diseases
• Hereditary Disorders of Cardiovascular Calcification
• Oral Phenotype of Singleton-Merten Syndrome: A Systematic Review Illustrated With a Case Report
• Precision treatment of Singleton Merten syndrome with ruxolitinib: a case report
• Ruxolitinib altered IFN-β induced necroptosis of human dental pulp stem cells during osteoblast differentiation
• Singleton-Merten syndrome: A rare cause of femoral head necrosis