DOSEN PROFIL LENGKAP

5) is a RIG-I-like receptor dsRNA helicase enzyme that is encoded by the IFIH1 gene in humans. MDA5 is part of the RIG-I-like receptor (RLR) family, which...

together encode the ribonuclease H2 enzyme complex), SAMHD1, ADAR1, and IFIH1 (coding for MDA5). This neurological disease occurs in all populations worldwide...

were classified as inborn errors of immunity genes, i.e., DNASE1L3, TREX1, IFIH1, Tartrate-resistant acid phosphatase and PRKCD and 28 other genes, i.e....

by mutations in the TREX1, RNASEH2B, RNASEH2C, RNASEH2A, ADAR1, SAMHD1, IFIH1, LSM11, or RNU7-1 gene. Infectious disease-associated encephalopathy (an...

classified as inborn errors of immunity genes, i.e., the DNASE1L3, TREX1, IFIH1, Tartrate-resistant acid phosphatase, and PRKCD genes and 29 other genes...

Aicardi–Goutières syndrome TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, IFIH1 1:19,500,000 Albinism 1:18,000-20,000 Alexander disease GFAP 1:15,600,000...

also be caused by mutations in other genes: TREX1, SAMHD1, ADAR, and MDA5/IFIH1, all of which are involved in nucleic acid processing. Characterization...

acid-inducible gene I (DDX58) and melanoma differentiation-associated protein 5 (IFIH1) genes. The classic radiologic findings were first described by Edward B...

Familial Mediterranean fever Aicardi–Goutières syndrome with TREX1, SAMHD1 or IFIH1 mutations Spondyloenchondro-dysplasia with immune dysregulation (ACP5 mutation)...

PMID 10414305. S2CID 33512855. Martínez A, Santiago JL, Cénit MC, et al. (2008). "IFIH1-GCA-KCNH7 locus: influence on multiple sclerosis risk". Eur. J. Hum. Genet...

RR, Gateva V, Fontán G, Lee AT, et al. (September 2010). "Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency". Nature...

Walker N, Riches D, Egholm M, Todd JA (April 2009). "Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes"...

BLM, BRIP1, DNA2, FBXO18, FBXO30, HELB, HELLS, HELQ, HELZ, HFM1, HLTF, IFIH1, NAV2, PIF1, RECQL, RTEL1, SHPRH, SMARCA4, SMARCAL1, WRN, WRNIP1 RNA helicase...

HTT Huntingtin Huntingtin IBTK IBTK Inhibitor Of Bruton Tyrosine Kinase IFIH1 MDA5 Interferon Induced With Helicase C Domain 1 IGF2BP1 IGF2BP1 Insulin-like...

also called Interferon-induced helicase C domain-containing protein 1 (IFIH1) [12][permanent dead link] MAVS: Mitochondrial antiviral-signaling protein...

Ferreira RC, Pan-Hammarström Q, Graham RR (Sep 2010). "Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency". Nature...

certain mutations in the TREX1, RNASEH2B, RNASEH2C, RNASEH2A, ADAR1, SAMHD1, IFIH1, LSM11, or RNU7-1 gene. Symptoms of the disease are most often detected...

P80217 7437 IFI44 HGNC:16938; Q8TCB0 7438 IFI44L HGNC:17817; Q53G44 7439 IFIH1 HGNC:18873; Q9BYX4 7440 IFIT1 HGNC:5407; P09914 7441 IFIT1B HGNC:23442;...

(1 August 2017). "Severe viral respiratory infections in children with IFIH1 loss-of-function mutations". Proceedings of the National Academy of Sciences...