IFIH1 Antibody

1. RIG-I and MDA5 receptor sensing of host non-coding RNAs facilitates the cell-intrinsic immune response to Kaposi's sarcoma-associated herpesvirus infection. PMID: 30451863
2. Melanoma differentiation-associated gene 5 (MDA5) is a recently described autoantigen target in a subset of patients with dermatomyositis. Anti-MDA5 dermatomyositis is characterized by a unique mucocutaneous and systemic phenotype PMID: 29229575
3. genetic association studies in population of children in Hungary: Data suggest that a genetic polymorphism in IFIH1 (rs1990760) is associated with seasonal variation in onset of type 1 diabetes in population studied; this polymorphism in IFIH1 may contribute to manifestation of type 1 diabetes primarily in summer. PMID: 28929635
4. Anti-MDA5 antibody helps in the diagnosis of dermatomyositis, predicting cutaneous, musculoskeletal and pulmonary manifestations. PMID: 29380533
5. Engineered Oncolytic Poliovirus PVSRIPO Subverts MDA5-Dependent Innate Immune Responses in Cancer Cells. PMID: 29997212
6. This work validates the significant role of MDA5 in IFN signaling and HCV infection and proposes the first lncRNA inhibiting HCV replication by promoting the activation of MDA5 and mediating the association between MDA5 and HCV RNA, the study of which may shed light on the MDA5 function and treatment for hepatitis C patients. PMID: 29899107
7. anti-MDA5 antibody related to muscle weakness, Gottron's sign or papules, mechanic's hand, V rash, skin ulcers, panniculitis, alopecia, arthritis/arthralgia, pneumomediastinum, and elevated CK in patients with dermatomyositis [meta-analysis] PMID: 28983955
8. the identification of a pathogen-restricted immunodeficiency due to loss-of-function variants in IFIH1, which result in defective innate recognition of RNA viruses, preventing the activation of an efficient antiviral IFN response. PMID: 28716935
9. The connection between the rs1990760 polymorphism and the expression level of type III IFNs. PMID: 28000722
10. Oncostatin M induces RIG-I and MDA5 expression and enhances the double-stranded RNA response in fibroblasts. PMID: 28560754
11. data highlight new function of ARRDC4 in innate immunity, contributing to the better understanding about regulation of MDA5 activation after EV71 infection, and also suggest ARRDC4 may serve as a potential target for intervention of EV71-induced inflammatory response. PMID: 28594402
12. Both diseases (Neuroinflammation and the Singleton-Merten Syndrome) are part of the interferonopathy grouping and that the Arg822Gln mutation in IFIH1 can cause a spectrum of disease, including neurological involvement. PMID: 28475458
13. Knockdown of PBRM1 in colon cancer cells increased the expression of two receptor genes (RIG-I and MDA5) and upregulated interferon (IFN)-related and inflammation-related gene signatures. PMID: 28940253
14. Dengue virus infection of human dendritic cells drives follicular T helper cells formation via crosstalk of RIG-I and MDA5. PMID: 29186193
15. study revealed that encapsidation of DI-RNA (defective interfering genomes) molecules within the measles virus nucleocapsid abolished their immunoactive properties. identified specific interactions of DI-RNAs with both RIG-I and LGP2 but not MDA5. PMID: 28768856
16. An up-regulation of type I IFN-induced gene transcripts in all 5 patients tested and a heterozygous gain-of-function mutation in IFIH1 in each family were discovered in families with a Singleton-Merten syndrome phenotype. PMID: 28605144
17. Data indicate autosomal recessive, homozygous MDA5 encoding gene IFIH1 mutation in the proband, and both parents and a brother were carriers of this mutation. PMID: 28606988
18. this study shows that PACT facilitates RNA-induced formation of MDA5 oligomers in response to viruses PMID: 28760879
19. Human peripheral blood mononuclear cells (PBMCs) and cell lines expressing the risk variant IFIH1(T946) exhibited heightened basal and ligand-triggered production of type I interferons. PMID: 28553952
20. Mechanistically, West Nile virus NS1 targets RIG-I and melanoma differentiation-associated gene 5 (MDA5) by interacting with them and subsequently causing their degradation by the proteasome. PMID: 28659477
21. The rare variant rs35667974, encoding an Ile923Val amino acid change in the IFIH1 gene protein product, is protective for psoriatic arthritis. PMID: 28501801
22. This would suggest that the change in IP-10 is genotypically driven, while the change in IL-6 may be reflective of systemic lupus erythematosus (SLE) transition status. These data suggest that IFIH1 may contribute to SLE pathogenesis via altered inflammatory mechanisms. PMID: 28234905
23. dynamic sumoylation and desumoylation of MDA5 and RIG-I modulate efficient innate immunity to RNA virus and its timely termination. PMID: 28250012
24. GPATCH3 negatively regulates both RIG-I- and MDA5-mediated signaling. PMID: 28414768
25. Data support a new model where an LGP2-MDA5 oligomer shuttles NS3 to the mitochondria to block antiviral signaling PMID: 28483922
26. MDA-5 stimulation leads to endothelial dysfunction. PMID: 27130701
27. LGP2 plays an essential role in activating interferon signaling against hepatitis C virus (HCV) infection by promoting MDA5 recognition of HCV pathogen-associated molecular patterns. PMID: 28090671
28. These data confirm the pathogenicity of IFIH1 c.2465G>A p.(Arg822Gln) for Singleton-Merten syndrome and affirm the striking phenotypic heterogeneity of this disorder PMID: 28319323
29. RNAs isolated from HCV-replicating cells triggered robust IFN-beta and IFN-lambda production through MDA5. PMID: 27655134
30. meta-analysis of peer-reviewed articles from 2008 to 2015 and data from this study indicated an association between rs1990760 and Systemic lupus erythematosus (SLE) onset . This is the first association analysis on IFIH1 polymorphisms and SLE susceptibility in Brazilian populations. PMID: 27813554
31. This study reviewed that Neurologic Phenotypes Associated with Mutations in IFIH1 in patients with Aicardi-Goutieres Syndrome. PMID: 27643693
32. We provide herein the results of pathological examination including detailed description of the neuropathological hallmarks. To our knowledge, this the first detailed clinico-pathological description of a patient with an IFIH1 pathogenic variant. PMID: 26833990
33. Our findings indicate that although STAT4 and IFIH1 SNPs are not associated with T1D in a Brazilian population, they might play a role in susceptibility to T1D on a larger worldwide scale PMID: 26782418
34. Results describe a family with gain of function mutation associated with cutaneous manifestations of Aicardi-Goutieres and Singleton-Merten syndromes PMID: 26284909
35. These results showed that mRNA levels of MDA5 and RIG-1 were significantly decreased and increased, respectively, in chronic hepatitis B patients when compared to healthy controls. PMID: 26485346
36. Findings indicate that melanoma differentiation associated protein-5 (MDA5) may serve as a complementary role in the toll-like receptor3 (TLR3) activated suppression of neuroblastoma (NB). PMID: 26208481
37. The MDA5 knockdown had no significant impact on the phosphorylation of eukaryotic translation initiation factor 2alpha triggered by CCCP, and MDA5 itself was not recruited to SGs, and the regulation of MDA5 in the SG response occurs downstream of eIF2alpha. PMID: 26351918
38. A significantly higher frequency of anti-melanoma differentiation-associated gene 5 (MDA5) antibodies was observed in Chinese patients with polymyositis/dermatomyositis (PM/DM) than in Japanese patients. PMID: 25903820
39. MDA5 mediates neuroprotection against cerebral ischemic injury. PMID: 26564103
40. discusses the different risk and protective IFIH1 alleles in the context of recent structural and functional analysis that relate to MDA5 regulation of interferon responses PMID: 26385483
41. The study proposes that the turnover kinetics of the ATPase domain enables the discrimination of self/non-self RNA by both RIG-I and MDA5. PMID: 26215161
42. This review briefly summarizes the RLR system, and focuses on the relationship between LGP2 and MDA5, describing in detail how these two proteins work together to detect foreign RNA and generate a fully functional antiviral response. PMID: 25794939
43. Single nucleotide polymorphism in IFIH1 gene is associated with type 1 diabetes. PMID: 25042601
44. the ectopic expression of RIOK3 or a phosphomimetic MDA5-S828D mutation attenuated MDA5-mediated signaling. PMID: 25865883
45. As a receptor for viral RNA, MDA5 until now has been linked to antiviral host defense, but these novel studies show unexpected effects in antifungal immunity as well. PMID: 25579795
46. MDA5 plays important role in sensing HCV infection to trigger interferon response. PMID: 25463548
47. L region antisense RNA of EMCV is a key determinant of innate immunity to the virus and represents an RNA that activates LGP2 associated MDA5 in virally-infected cells. PMID: 24550253
48. These data demonstrate that EFTUD2 restricts Hepatitis C Virus infection mainly through an RIG-I/MDA5-mediated, JAK-STAT-independent pathway, thereby revealing the participation of EFTUD2 as a novel innate immune regulator. PMID: 25878102
49. There is an association of the IFIH1 locus with susceptibility to type 1 diabetes mellitus in the Polish population. PMID: 25515714
50. Data indicate that pattern recognition receptors RIG-I and MDA5 displace viral proteins bound to dsRNA in an ATP-dependent manner. PMID: 25891073

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HGNC: 18873

OMIM: 182250

KEGG: hsa:64135

STRING: 9606.ENSP00000263642

UniGene: Hs.163173