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
Oral Phenotype of Singleton-Merten Syndrome: A Systematic Review Illustrated With a Case Report.
Riou MC et al.
Frontiers in Genetics, 2022
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
Hereditary Disorders of Cardiovascular Calcification.
Rutsch F et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 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
Periodic fever syndromes and the autoinflammatory diseases (AIDs).
Marino A et al.
Journal of Translational Autoimmunity, 2020
Singleton-Merten Syndrome-like Skeletal Abnormalities in Mice with Constitutively Activated MDA5.
Soda N et al.
Journal of Immunology (baltimore, Md. : 1950), 2019
An Update on Autoinflammatory Diseases: Interferonopathies.
Davidson S et al.
Current Rheumatology Reports, 2018
Autoinflammatory phenotypes in Aicardi-Goutières syndrome with interferon upregulation and serological autoimmune features.
Sugawara Y et al.
The Journal of Allergy and Clinical Immunology, 2018
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
Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.
Nitschke Y et al.
Current Osteoporosis Reports, 2017
Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.
Pettersson M et al.
American Journal of Medical Genetics. Part A, 2017
MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum.
Buers I et al.
Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research, 2017
RIG-I-Like Receptor Signaling in Singleton-Merten Syndrome.
Lu C et al.
Frontiers in Genetics, 2017
Novel interferonopathies associated with mutations in RIG-I like receptors.
Buers I et al.
Cytokine & Growth Factor Reviews, 2016
Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.
Bursztejn AC et al.
The British Journal of Dermatology, 2015