Associated Papers
Genome-wide association analyses of autoimmune hypothyroidism reveal autoimmune and thyroid-specific contributions and an inverse relationship with cancer risk.
Reeve MP et al.
Nature Genetics, 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
Mouse models of type I interferonopathies.
Luca D et al.
Human Molecular Genetics, 2025
The rare-to-common disease journey: a winding road to new therapies.
Reinholdt L et al.
Trends in Genetics : Tig, 2025
USP8-Governed MDA5 Homeostasis Promotes Innate Immunity and Autoimmunity.
Zhang Q et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
Genetic Variations in TLR2 and TLR4 Genes and Their Association With COVID-19 Severity and Inflammatory Markers in the Moroccan Population.
Noureddine R et al.
International Journal of Immunogenetics, 2025
Molecular basis of autoimmune disease protection by MDA5 variants.
Singh R et al.
Cell Reports, 2025
Characterisation of LGP2 complex multitranscript system in humans: role in the innate immune response and evolution from non-human primates.
Martinez-Laso J et al.
Human Molecular Genetics, 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
HAPLN3 p.T34A contributes to incomplete penetrance of moyamoya disease in Chinese carrying RNF213 p.R4810K.
Xu J et al.
European Journal of Neurology, 2024
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
Genetic variations in Interferon-Induced with Helicase C Domain 1: Impact on COVID-19 risk and severity in the Moroccan population.
Aqillouch S et al.
Human Immunology, 2024
Stratified analyses refine association between TLR7 rare variants and severe COVID-19.
Boos J et al.
Hgg Advances, 2024
Untangling the genetics of beta cell dysfunction and death in type 1 diabetes.
Robertson CC et al.
Molecular Metabolism, 2024
Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease.
Saevarsdottir S et al.
Nature Communications, 2024
Type I interferon associated epistasis may contribute to early disease-onset and high disease activity in juvenile-onset lupus.
Renaudineau Y et al.
Clinical Immunology (orlando, Fla.), 2024
The IFIH1-A946T risk variant promotes diabetes in a sex-dependent manner.
Stock AJ et al.
Biorxiv : the Preprint Server for Biology, 2024
The IFIH1-A946T risk variant promotes diabetes in a sex-dependent manner.
Stock AJ et al.
Frontiers in Immunology, 2024
Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target.
Roychowdhury T et al.
Nature Genetics, 2023
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
Association of IFIH1 and DDX58 genes polymorphism with susceptibility to COVID-19.
Feizollahi P et al.
Medical Microbiology and Immunology, 2023
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A et al.
Embo Molecular Medicine, 2023
Age-dependent effect of the IFIH1/MDA5 gene variants on the risk of critical COVID-19.
Muñiz-Banciella MG et al.
Immunogenetics, 2023
MDA5-dependent responses contribute to autoimmune diabetes progression and hindrance.
Blum SI et al.
Jci Insight, 2023
Novel loss-of-function mutations in TNFAIP3 gene in patients with lupus nephritis.
Zhang C et al.
Clinical Kidney Journal, 2022
Understanding the genetic basis of immune responses to fungal infection.
Gonçalves SM et al.
Expert Review of Anti-infective Therapy, 2022
Effects of IFIH1 rs1990760 variants on systemic inflammation and outcome in critically ill COVID-19 patients in an observational translational study.
Amado-Rodríguez L et al.
Elife, 2022
Increased Expression of Viral Sensor MDA5 in Pancreatic Islets and in Hormone-Negative Endocrine Cells in Recent Onset Type 1 Diabetic Donors.
Nigi L et al.
Frontiers in Immunology, 2022
Functional Impact of Risk Gene Variants on the Autoimmune Responses in Type 1 Diabetes.
Gootjes C et al.
Frontiers in Immunology, 2022
Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families.
Azzarà A et al.
Plos One, 2022
Human genetic basis of coronavirus disease 2019.
Deng H et al.
Signal Transduction and Targeted Therapy, 2021
Genome-wide association study on Northern Chinese identifies KLF2, DOT1L and STAB2 associated with systemic lupus erythematosus.
Song Q et al.
Rheumatology (oxford, England), 2021
Psoriasis-like skin disorder in transgenic mice expressing a RIG-I Singleton-Merten syndrome variant.
Abu Tayeh A et al.
International Immunology, 2021
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Sebate B et al.
Plos One, 2021
Type 1 Diabetes and Autoimmune Thyroid Disease-The Genetic Link.
Frommer L et al.
Frontiers in Endocrinology, 2021
The African-American population with a low allele frequency of SNP rs1990760 (T allele) in IFIH1 predicts less IFN-beta expression and potential vulnerability to COVID-19 infection.
Maiti AK
Immunogenetics, 2020
Meta-analysis of genome-wide association study identifies FBN2 as a novel locus associated with systemic lupus erythematosus in Thai population.
Tangtanatakul P et al.
Arthritis Research & Therapy, 2020
Distinct and Orchestrated Functions of RNA Sensors in Innate Immunity.
Liu G et al.
Immunity, 2020
Innate Viral Sensor MDA5 and Coxsackievirus Interplay in Type 1 Diabetes Development.
Blum SI et al.
Microorganisms, 2020
New Horizons in the Genetic Etiology of Systemic Lupus Erythematosus and Lupus-Like Disease: Monogenic Lupus and Beyond.
Demirkaya E et al.
Journal of Clinical Medicine, 2020
The interferon-induced helicase C domain-containing protein 1 gene variant (rs1990760) as an autoimmune-based pathology susceptibility factor.
Wawrusiewicz-Kurylonek N et al.
Immunobiology, 2020