Associated Papers
How loss-of-function mutations in IFIH1 contribute to infectious and/or inflammatory disease - a systematic review.
Ince I et al.
Journal of Translational Autoimmunity, 2026
Protective IFIH1 variant reduces immune-mediated islet stress and dysfunction in a type 1 diabetes genetic background.
Veronese-Paniagua DA et al.
Biorxiv : the Preprint Server for Biology, 2025
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
Gene variants of interferon induced with helicase C domain 1 in Japanese patients with Dermatomyositis-associated rapidly progressive interstitial lung disease: a genetic association study using whole-exome and Sanger sequencing.
Okamoto M et al.
Respiratory Research, 2025
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.
Repiská G et al.
Genes, 2025
Molecular basis of autoimmune disease protection by MDA5 variants.
Singh R et al.
Cell Reports, 2025
MDA5 variants trade antiviral activity for protection from autoimmune disease.
Wallace C et al.
Bmc Medical Genomics, 2025
Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult-Onset Still's Disease.
Topping J et al.
Arthritis & Rheumatology (hoboken, N.j.), 2025
The perfect storm: unraveling the interplay of genetic predisposition and viral triggers in type 1 diabetes pathogenesis.
Veronese-Paniagua DA et al.
Frontiers in Endocrinology, 2025
The Type 1 Diabetes-Associated Single Nucleotide Polymorphism rs1990760 in IFIH1 Is Associated with Increased Basal Type I IFNs and IFN-stimulated Gene Expression.
Taylor JP et al.
Journal of Immunology (baltimore, Md. : 1950), 2024
Stratified analyses refine association between TLR7 rare variants and severe COVID-19.
Boos J et al.
Hgg Advances, 2024
IFN-I Score and Rare Genetic Variants in Children with Systemic Lupus Erythematosus.
Raupov RK et al.
Biomedicines, 2024
Inborn errors of type I interferon immunity in patients with symptomatic acute hepatitis E.
Saadat A et al.
Hepatology (baltimore, Md.), 2024
Influence of the HLA-Cw6 Allele and IFIH1/MDA5 Gene Variants on the Cardiometabolic Risk Profile of Patients with Psoriatic Disease.
Queiro R et al.
Journal of Clinical Medicine, 2024
The IFIH1/MDA5 rs1990760 Gene Variant (946Thr) Differentiates Early- vs. Late-Onset Skin Disease and Increases the Risk of Arthritis in a Spanish Cohort of Psoriasis.
Coto-Segura P et al.
International Journal of Molecular Sciences, 2023
IFIH1 and DDX58 gene variants in pediatric rheumatic diseases.
Raupov R et al.
World Journal of Clinical Pediatrics, 2023
Age-dependent effect of the IFIH1/MDA5 gene variants on the risk of critical COVID-19.
Muñiz-Banciella MG et al.
Immunogenetics, 2023
Is the Association of the Rare rs35667974 IFIH1 Gene Polymorphism With Autoimmune Diseases a Case of RNA Epigenetics?
Andreou A et al.
Journal of Molecular Evolution, 2023
Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.
Perfilyeva A et al.
Disease Markers, 2022
Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families.
Azzarà A et al.
Plos One, 2022
Inborn errors of TLR3- or MDA5-dependent type I IFN immunity in children with enterovirus rhombencephalitis.
Chen J et al.
The Journal of Experimental Medicine, 2021
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.
Cananzi M et al.
Human Genetics, 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
Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes.
Vidmar L et al.
Scientific Reports, 2019
Phenome-wide association studies across large population cohorts support drug target validation.
Diogo D et al.
Nature Communications, 2018
Severe viral respiratory infections in children with IFIH1 loss-of-function mutations.
Asgari S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2017
Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.
Lamborn IT et al.
The Journal of Experimental Medicine, 2017
A rare coding allele in IFIH1 is protective for psoriatic arthritis.
Budu-Aggrey A et al.
Annals of the Rheumatic Diseases, 2017
The A946T variant of the RNA sensor IFIH1 mediates an interferon program that limits viral infection but increases the risk for autoimmunity.
Gorman JA et al.
Nature Immunology, 2017
Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.
Ostrowski J et al.
Scientific Reports, 2016
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Cereda M et al.
Nature Communications, 2016
Pooled Resequencing of 122 Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC2.
Visschedijk MC et al.
Plos One, 2016
Protective alleles and modifier variants in human health and disease.
Harper AR et al.
Nature Reviews. Genetics, 2015
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
Rice GI et al.
Nature Genetics, 2014
Autoimmune disorders associated with gain of function of the intracellular sensor MDA5.
Funabiki M et al.
Immunity, 2014
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
The genetics of innate immunity sensors and human disease.
Pothlichet J et al.
International Reviews of Immunology, 2013
Interferon induced with helicase C domain 1 (IFIH1): trends on helicase domain and type 1 diabetes onset.
Moura R et al.
Gene, 2013
Polymorphisms in the innate immune IFIH1 gene, frequency of enterovirus in monthly fecal samples during infancy, and islet autoimmunity.
Witsø E et al.
Plos One, 2011
Loss-of-function mutations E6 27X and I923V of IFIH1 are associated with lower poly(I:C)-induced interferon-β production in peripheral blood mononuclear cells of type 1 diabetes patients.
Chistiakov DA et al.
Human Immunology, 2010
Reduced expression of IFIH1 is protective for type 1 diabetes.
Downes K et al.
Plos One, 2010
Identification of loss of function mutations in human genes encoding RIG-I and MDA5: implications for resistance to type I diabetes.
Shigemoto T et al.
The Journal of Biological Chemistry, 2009