Ask about this productRelated genes to: TOR3A antibody
- Gene:
- TOR3A NIH gene
- Name:
- torsin family 3 member A
- Previous symbol:
- ADIR
- Synonyms:
- FLJ22345, ADIR2
- Chromosome:
- 1q25.2
- Locus Type:
- gene with protein product
- Date approved:
- 2000-02-17
- Date modifiied:
- 2016-01-25
Related products to: TOR3A antibody
Related articles to: TOR3A antibody
- Type I interferons (IFN-I) are essential for antiviral immunity, and precise regulation of IFN-I production is crucial to balance viral clearance and immunopathology. Here, we demonstrate that the interferon-stimulated gene negatively regulates type I IFN signalling during respiratory syncytial virus (RSV) infection. expression was upregulated in macrophages and RSV-infected patients, and its deficiency enhanced antiviral responses, leading to reduced viral load. Mechanistically, RSV infection induced expression through the IFN-STAT1 pathway, which in turn suppressed IFN-I production. Furthermore, TOR3A recruited the E3 ubiquitin ligase STUB1 to mediate K48-linked ubiquitination and proteasomal degradation of RIG-I at lysine 146, thereby promoting RSV immune evasion. Our study identifies TOR3A as a novel suppressor of antiviral immunity and uncovers a mechanism by which RSV exploits host ISGs to dampen IFN-I responses, providing new insights into viral pathogenesis and potential therapeutic strategies. - Source: PubMed
Publication date: 2026/03/13
Li XiaopingChen ZhengrongWu MengyunZhu PeijieQiao GuodongLi JiaoyangYe YunfeiCai JiaminZhou YingDai XiaoqiuWang YufengLi CanchengHuang JiaqiZhou JiXu FeiTan ChenshengShao YuGao XiuHu JingjingXu XuenaDong ChunshengHao ChuangliYang YiZhang Jinping - 1. Double digest restriction site-associated DNA sequencing (ddRADseq) data were utilised to perform genome-wide scanning for selection signatures within Denizli (DNZ) and Gerze (GRZ) by a combination of runs of homozygosity (ROH) and Tajima's D index. The genome of native Anatolian chicken breeds was compared to commercial broiler (BROHIB) and layer (LAYHIB) lines the approach to identify genomic regions associated with economically important traits.2. Tajima's D index-based selection signatures were detected in 269 and 772 single nucleotide polymorphisms (SNP) in DNZ and GRZ breeds, respectively, overlapped with 32 and 58 protein-coding genes. These genes were positioned within a ROH island, which indicated their fixation across the population.3. A literature review confirmed that numerous genes under selection in Anatolian chicken breeds were associated with environmental adaptation. These included thermo-tolerance ( and ), pathogen and disease resistance ( and ) as well as survival traits including hearing (), vocal learning (), vision ( and ) and reaction to fear (). The results of comparative analysis revealed 10 ( and ) and three ( and ) genes common in native Anatolian chicken breeds and commercial hybrid lines implying that they are likely to affect economically important traits.4.This study confirmed that the genome of native Anatolian chicken breeds has been shaped by natural selection in response to adverse environmental conditions. Among detected genes, seems promising for explaining the genetic underpinnings of the long crowing characteristics of the DNZ breed since it is linked to vocalisation and learning ability in avian species. - Source: PubMed
Publication date: 2025/07/25
Demir EArgun Karsli BÖzdemir DBilginer UDoğru HKaya SAtmaca VTufan NDemir EKarslı T - Bovine spastic syndrome (SS) is a progressive, adult-onset neuromuscular disorder (NMD). SS is inherited but the mode of inheritance is unclear. The aim of this study was to characterize the phenotype and to identify a possible genetic cause of SS by whole-genome sequencing (WGS) and focusing on protein-changing variants. Seven affected unrelated Holstein cattle of both sexes were referred for SS at a mean age of 5.3 years (S.D.±1.1) showing intermittent spasm of the skeletal muscles of the pelvic girdle. Assuming monogenic recessive inheritance, analysis of the WGS data did not reveal any private variants common to all cases. Searching for homozygous rare variants considering each case individually, allowed the identification of a rare recessive likely pathogenic missense variant in TOR3A for one case with an allele frequency of 1.69% in a global Holstein population. In the remaining six SS cases, we identified seven potentially dominant de novo mutations or inherited alleles as private heterozygous, mostly missense, variants of uncertain significance involving seven different NMD candidate genes: MPEG1, LHX8, WHAMM, NGRN, TTN, ATP1A1, PCDH1. All eight candidate causal variants identified were predicted to be deleterious. This study describes for the first time WGS findings in confirmed cases of bovine SS and provides evidence for a heterogeneous genetic cause of SS in cattle. - Source: PubMed
Publication date: 2024/12/28
Jacinto Joana G PLetko AnnaHäfliger Irene MAkyürek Eylem EmekSacchetto RobertaGentile ArcangeloDrögemüller Cord - In patients with enhancing brain parenchymal lesions, parenchymal neurocysticercosis (pNCC) is often difficult to distinguish from tuberculoma, necessitating biopsy or empirical therapy. - Source: PubMed
Publication date: 2021/08/12
Pamela Betcy EvangelineVasudevan PrabhakaranThamizhmaran SubashiniMoorthy Ranjith KOommen AnnaManoj JosephinThanigachalam AnupriyaZhang MiaoDrevets Douglas ACarabin HélèneRajshekhar Vedantam - This study was aimed at investigating the association of long noncoding RNA (lncRNA)-related single nucleotide polymorphisms (SNPs) with Vogt-Koyanagi-Harada (VKH) disease. - Source: PubMed
Qi JianDu LipingDeng JingQin YangSu GuannanHou ShengpingLv MengZhang QiKijlstra AizeYang Peizeng