Ask about this productRelated genes to: KIAA1618 antibody
- Gene:
- RNF213 NIH gene
- Name:
- ring finger protein 213
- Previous symbol:
- C17orf27, KIAA1618, MYMY2
- Synonyms:
- KIAA1554, NET57, ALO17
- Chromosome:
- 17q25.3
- Locus Type:
- gene with protein product
- Date approved:
- 2001-03-05
- Date modifiied:
- 2019-04-16
Related products to: KIAA1618 antibody
Related articles to: KIAA1618 antibody
- Moyamoya is an important cause of stroke across the lifespan and accounts for up to 10% of pediatric ischemic strokes. Recent advances in genetic discovery, neuroimaging, surgical timing, and perioperative consensus have substantially changed the landscape of pediatric moyamoya care, necessitating a focused update for clinicians managing children with this disease. - Source: PubMed
Publication date: 2026/08/19
Cheronis Chrisoula - - Source: PubMed
Publication date: 2026/08/10
Roy JayantaMondal RitwickDeb ShramanaBenito-León Julián - - Source: PubMed
Publication date: 2026/08/07
Yoshimoto TakeshiHattori YoritoIhara Masafumi - Atherosclerosis (AS) is driven by chronic vascular inflammation, yet the relationship between immune activity within atherosclerotic lesions and systemic immune signals in peripheral blood remains poorly defined. In this study, we performed an integrative multi-cohort analysis of gene expression profiles from atherosclerotic tissues, peripheral blood, and single-cell transcriptomic datasets to characterize spatial immune heterogeneity in AS. Differential expression and enrichment analyses revealed divergent immune-related transcriptional patterns between plaques and blood, indicating a dissociation between local and systemic immune responses. Using weighted gene co-expression network analysis and multiple machine learning approaches, we identified a 5-gene signature (with XAF1 [XIAP-associated factor 1], RNF213 [ring finger protein 213], OAS2 [2'-5'-oligoadenylate synthetase 2], and OAS3 [2'-5'-oligoadenylate synthetase 3] upregulated, and BEND5 [BEN domain containing 5]) downregulated in plaques) that robustly distinguished atherosclerotic from control samples across multiple vascular beds. This gene signature demonstrated strong diagnostic performance in tissue datasets. While its diagnostic accuracy was attenuated in peripheral blood, it retained moderate prognostic value for ischemic stroke risk, suggesting its utility as a hypothesis-generating tool for noninvasive risk stratification. Together, these findings highlight spatially distinct immune programs in AS and support the use of integrated tissue- and blood-based gene signatures for improved disease diagnosis and risk stratification. - Source: PubMed
He RuiqiaoHuang WenlinHu LiangqiaoFang YongyouYang Fei - VEGFA plays a pivotal role in angiogenesis and is known to affect clinical phenotypes related to the vasculature in various diseases, such as cancer or stroke. However, it is still unclear how the VEGFA genotype influences the clinical phenotype of moyamoya disease (MMD). This study included 137 Japanese MMD patients (84 adult and 53 pediatric patients) carrying either the heterozygous RNF213 p.R4810K or the RNF213 wild-type genotypes. Patients with homozygous RNF213 p.R4810K genotype or the other rare RNF213 variants were excluded because these genotypes are already known to affect the clinical phenotype. After genotyping VEGFA rs2010963 (NM_001171623.2, c.-634G > C, also known as c.+405G > C), we statistically analyzed the genotype-phenotype correlation. Genotyping and clinical data collection were both blinded. 110 (80.3%) patients carried the heterozygous RNF213 p.R4810K genotype. For VEGFA rs2010963 genotypes, 36 (26.3%) patients had the G/G genotype, 86 (62.8%) had the C/G genotype, and 15 (10.9%) had the C/C genotype. In the subgroup analysis, the VEGFA rs2010963 C/G + C/C genotype was significantly associated with a higher incidence of bilaterality and PCA involvement in pediatric MMD patients (p = 0.032 and 0.0399, respectively). Furthermore, a multivariate regression analysis confirmed the significant association for them (p = 0.0391 and 0.0271, respectively). This genotype-phenotype association study suggests that the VEGFA rs2010963 CG + CC genotype may be associated with a higher rate of bilaterality and PCA stenosis in pediatric MMD patients, in addition to the well-known association of RNF213. These findings suggest that both RNF213 and VEGFA genotypes may be useful in the clinical assessment of MMD patients. - Source: PubMed
Publication date: 2026/08/05
Nakamura AkikazuAkagawa HiroyukiYamaguchi KojiAzuma KenkoIshiguro TaichiHori TakahiroMorita ShuheiAihara YasuoVetiska SandraMansur AnnRadovanovic IvanKawashima AkitsuguKawamata TakakazuNomura Shunsuke