Associated Papers
ADAR1 haploinsufficiency and sustained picornaviral RdRp dsRNA synthesis synergize to dysregulate RNA editing and cause multi-system interferonopathy.
Miller CM et al.
Biorxiv : the Preprint Server for Biology, 2025
IFIH1 variants are associated with generalised epilepsy preceded by febrile seizures.
Song W et al.
Journal of Medical Genetics, 2024
38964834 (PubMed )
Supplement: jmg-2024-109950supp002.xlsx › __1
Oral Phenotype of Singleton-Merten Syndrome: A Systematic Review Illustrated With a Case Report.
Riou MC et al.
Frontiers in Genetics, 2022
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
A case of Singleton-Merten syndrome without cardiac involvement harboring a novel IFIH1 variant.
Vengoechea J et al.
American Journal of Medical Genetics. Part A, 2020
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Rice GI et al.
Human Mutation, 2020
Interstitial Lung Disease and Psoriasis in a Child With Aicardi-Goutières Syndrome.
Zheng S et al.
Frontiers in Immunology, 2020
Type I interferon-mediated autoinflammation due to DNase II deficiency.
Rodero MP et al.
Nature Communications, 2017
29259162 (PubMed )
Supplement: 41467_2017_1932_MOESM1_ESM.pdf
Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.
de Carvalho LM et al.
Arthritis & Rheumatology (hoboken, N.j.), 2017
RIG-I-Like Receptor Signaling in Singleton-Merten Syndrome.
Lu C et al.
Frontiers in Genetics, 2017
Select a paper to view details