Associated Papers
Local activation of mutant RIG-I by short noncoding Y-RNA in the kidney triggers lethal nephritis.
Satoh S et al.
Science Immunology, 2025
Overlapping Aicardi-Goutières and Singleton-Merten syndromes with a heterozygous gain-of-function mutation in IFIH1 mimicking juvenile idiopathic arthritis.
Yamazaki S et al.
Immunological Medicine, 2025
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
Rare and common single nucleotide variants in childhood-onset systemic lupus erythematosus.
Sayadi A et al.
Lupus Science & Medicine, 2025
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
IFIH1 variants are associated with generalised epilepsy preceded by febrile seizures.
Song W et al.
Journal of Medical Genetics, 2024
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
Gunsel AS et al.
Genes, 2023
Asymmetric arginine dimethylation of cytosolic RNA and DNA sensors by PRMT3 attenuates antiviral innate immunity.
Zhu J et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
A zebrafish model of Ifih1-driven Aicardi-Goutières syndrome reproduces the interferon signature and the exacerbated inflammation of patients.
Bernal-Bermúdez B et al.
Frontiers in Immunology, 2023
Double-Stranded RNA Induces Mortality in an MDA5-Mediated Type I Interferonopathy Model.
Emralino FL et al.
Journal of Immunology (baltimore, Md. : 1950), 2022
Precision treatment of Singleton Merten syndrome with ruxolitinib: a case report.
Broser P et al.
Pediatric Rheumatology Online Journal, 2022
Pathogenic insights from genetic causes of autoinflammatory inflammasomopathies and interferonopathies.
Lin B et al.
The Journal of Allergy and Clinical Immunology, 2022
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
Computational Insights into the Structural Dynamics of MDA5 Variants Associated with Aicardi-Goutières Syndrome and Singleton-Merten Syndrome.
Gosu V et al.
Biomolecules, 2021
Psoriasis-like skin disorder in transgenic mice expressing a RIG-I Singleton-Merten syndrome variant.
Abu Tayeh A et al.
International Immunology, 2021
Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing.
Sandling JK et al.
Annals of the Rheumatic Diseases, 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
Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.
Stolarova L et al.
Biomedicines, 2020
MDA5 cleavage by the Leader protease of foot-and-mouth disease virus reveals its pleiotropic effect against the host antiviral response.
Pulido MR et al.
Cell Death & Disease, 2020
Distinct and Orchestrated Functions of RNA Sensors in Innate Immunity.
Liu G et al.
Immunity, 2020
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
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
R516Q mutation in Melanoma differentiation-associated protein 5 (MDA5) and its pathogenic role towards rare Singleton-Merten syndrome; a signature associated molecular dynamics study.
Raghuraman P et al.
Journal of Biomolecular Structure & Dynamics, 2019
DDX58 and Classic Singleton-Merten Syndrome.
Ferreira CR et al.
Journal of Clinical Immunology, 2019
Cryo-EM Structures of MDA5-dsRNA Filaments at Different Stages of ATP Hydrolysis.
Yu Q et al.
Molecular Cell, 2018
An Update on Autoinflammatory Diseases: Interferonopathies.
Davidson S et al.
Current Rheumatology Reports, 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
Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.
Ostrowski J et al.
Scientific Reports, 2016
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
A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.
Rutsch F et al.
American Journal of Human Genetics, 2015