2024年12月25日 · RIGI (RNA Sensor RIG-I) is a Protein Coding gene. Diseases associated with RIGI include Singleton-Merten Syndrome 2 and Singleton-Merten Dysplasia. Among its related pathways are DDX58/IFIH1-mediated induction of interferon-alpha/beta and SARS-CoV-2 Infection. An important paralog of this gene is IFIH1.

RIG-I is encoded by the DDX58 gene in humans. [9][15] RIG-I is a helical ATP-dependent DExD/H box RNA helicase with a repressor domain (RD) on the C-terminus that binds to the target RNA. [5][9] Included on the N-terminus are two caspase activation and recruitment domains (CARDs) that are important for interactions with mitochondrial antiviral s...

2019年9月21日 · 在人体中，对原发性 黑色素瘤 样本的转录组分析揭示出DDX58（编码RIG-I的基因）的高表达、T细胞受体和抗原呈递途径活性与延长的总体存活期之间存在较强的关联性。 再者，在接受抗CTLA-4免疫检查点阻断治疗的 黑色素瘤 患者中，较高的DDX58 RIG-I转录活性与持久的临床反应显著相关。 此外，通过基因手段设计出缺乏参与DNA和RNA检测、细胞死亡和IFN-1信号途径的关键分子的 黑色素瘤 细胞系，这些研究人员对这些途径在调节抗 肿瘤 免疫反应和对 …

2023年2月1日 · Results: We identified a novel DDX58 pathogenic variant, R109C, in five unrelated families with LN. The DDX58 R109C variant is a gain-of-function mutation, elevating type I IFN signaling due to reduced autoinhibition, which leads to RIG-I hyperactivation, increased RIG-I K63 ubiquitination, and MAVS aggregation.

Results: We have identified a novel DDX58 variant c.1529A>T p. (Glu510Val) that segregates with disease in two families with SGMRT2. Patients in these families have widely variable phenotypic features and different ethnic background, with some being severely affected by systemic features and others solely with glaucoma.

We have identified a novel DDX58 variant c.1529A>T p. (Glu510Val) that segregates with disease in two families with SGMRT2. Patients in these families have widely variable phenotypic features and different ethnic background, with some being severely affected by systemic features, and others solely with glaucoma.

机制研究发现，DDX58 R109C突变可以解除RIG-I蛋白自抑制，上调RIG-I蛋白的K63泛素化水平，促进RIG-I蛋白形成寡聚体，增强与下游MAVS的相互作用，以及促进MAVS聚集，从而激活RIG-I-MAVS介导的I型干扰素信号通路导致肾脏损害。 为进一步观察DDX58 R109C突变是否可以作为LN个体化干预靶点。 研究团队在阐明其致病机制基础上， 选择作用于干扰素信号通路的JAK抑制剂--巴瑞替尼，对携带突变的患者进行靶向干预。 经过6个月治疗，患者不仅临床症状得到有 …

Results: We demonstrate a DDX58 autosomal dominant gain-of-function mutation, with constitutive upregulation of type I interferon. Conclusions: DDX58 mutations may be associated with the classic features of Singleton-Merten syndrome including dental dysplasia, tendon rupture, and severe cardiac sequela.

Chromosome 9: 32,455,300-32,526,322 reverse strand. This gene has 5 transcripts (splice variants), 3 paralogues and is associated with 2 phenotypes. Sorry, the page request "/Homo_sapiens/Component/Gene/Summary/gene_summary?g=ENSG00000107201;r=9:32455300-32526322;db=core;time=1741692253248.248" failed to load.

2023年11月28日 · PTIR1 is selectively induced in human cancers via alternative splicing of DDX58 (RIG-I), and its induction is closely related to poor outcome in patients with cancer. Through blocking the recruitment of leukocytes, PTIR1 facilitates cancer immune escape and tumor-intrinsic resistance to immunotherapeutic treatments.