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
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
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
Genetic Mutations and Small Bowel Ulcerating Disease: Role in Diagnosis?
Modi R et al.
Current Gastroenterology Reports, 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
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
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
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
MDA5-dependent responses contribute to autoimmune diabetes progression and hindrance.
Blum SI et al.
Jci Insight, 2023
Functional significance of the rare rs35667974 IFIH1 gene polymorphism, associated with multiple autoimmune diseases, using a structural biological approach.
Zervou MI et al.
Autoimmunity, 2022
Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.
Aitkulova A et al.
Biomedical Reports, 2022
Functional screen of inflammatory bowel disease genes reveals key epithelial functions.
Ntunzwenimana JC et al.
Genome Medicine, 2021
Individualized Proteogenomics Reveals the Mutational Landscape of Melanoma Patients in Response to Immunotherapy.
Schmitt M et al.
Cancers, 2021
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.
Cananzi M et al.
Human Genetics, 2021
De-coding genetic risk variants in type 1 diabetes.
Shapiro MR et al.
Immunology and Cell Biology, 2021
Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease.
Somineni HK et al.
American Journal of Human Genetics, 2021
Innate Viral Sensor MDA5 and Coxsackievirus Interplay in Type 1 Diabetes Development.
Blum SI et al.
Microorganisms, 2020
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
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
Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling.
Dand N et al.
Human Molecular Genetics, 2017
Fine-mapping inflammatory bowel disease loci to single-variant resolution.
Huang H et al.
Nature, 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
Multiple Functional Variants of IFIH1, a Gene Involved in Triggering Innate Immune Responses, Protect against Vitiligo.
Jin Y et al.
The Journal of Investigative Dermatology, 2017
Isogenic Cellular Systems Model the Impact of Genetic Risk Variants in the Pathogenesis of Type 1 Diabetes.
Wallet MA et al.
Frontiers in Endocrinology, 2017
Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.
Ostrowski J et al.
Scientific Reports, 2016
Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency.
Bronson PG et al.
Nature Genetics, 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
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
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
Functional characterization of the Thr946Ala SNP at the type 1 diabetes IFIH1 locus.
Zouk H et al.
Autoimmunity, 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
Deleterious alleles in the human genome are on average younger than neutral alleles of the same frequency.
Kiezun A et al.
Plos Genetics, 2013
A novel support vector machine-based approach for rare variant detection.
Fang YH et al.
Plos One, 2013