Associated Papers
USP8-Governed MDA5 Homeostasis Promotes Innate Immunity and Autoimmunity.
Zhang Q et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
Molecular basis of autoimmune disease protection by MDA5 variants.
Singh R et al.
Cell Reports, 2025
IFIH1 variants are associated with generalised epilepsy preceded by febrile seizures.
Song W et al.
Journal of Medical Genetics, 2024
Oral Phenotype of Singleton-Merten Syndrome: A Systematic Review Illustrated With a Case Report.
Riou MC et al.
Frontiers in Genetics, 2022
MDA5 disease variant M854K prevents ATP-dependent structural discrimination of viral and cellular RNA.
Yu Q et al.
Nature Communications, 2021
Severe diarrhea in a 10-year-old girl with Aicardi-Goutières syndrome due to IFIH1 gene mutation.
Lu M et al.
American Journal of Medical Genetics. Part A, 2021
Case Report: Aicardi-Goutières Syndrome and Singleton-Merten Syndrome Caused by a Gain-of-Function Mutation in IFIH1.
Xiao W et al.
Frontiers in Genetics, 2021
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Rice GI et al.
Human Mutation, 2020
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.
Garau J et al.
Journal of Clinical Medicine, 2019
A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi-Goutières and Singleton-Merten syndromes in a single patient.
Takeichi T et al.
The British Journal of Dermatology, 2018
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