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
- is a susceptibility gene for moyamoya disease, with the p.R4810K variant being the founder mutation. However, long-term outcomes in non-moyamoya stage of -related vasculopathy remain poorly characterised in longitudinal studies. - Source: PubMed
Publication date: 2026/04/25
Yoshimoto TakeshiHattori YoritoIshiyama HiroyukiKiyoshige EriOgata SoshiroNishimura KunihiroOkada YokoAkaiwa YasuhisaKawamoto MichiIchijo MasahikoInoue HiroyasuMizuno ToshikiTomimoto HidekazuKawakami DaisukeIhara Masafumi - Spinocerebellar Ataxia type 2 (SCA2) and Amyotrophic Lateral Sclerosis type 13 (ALS13) are triggered by polyglutamine expansion in Ataxin-2 (ATXN2). To understand these neurodegenerative disorders at the molecular level, the brains of 10-month-old -CAG100-knockin mice were analyzed as microglial, astroglial and neuronal fractions via global RNA sequencing. Data were validated by comparison with the spinal cord oligonucleotide microarray profile or filtered by RNA-seq consistency. Here, we show that the mutation causes a massive inflammatory response in microglia and a reciprocal loss of neuronal transcripts in glial fractions, suggesting severe synapse loss. Beyond these general neurodegenerative signs, we identify pathognomonic changes in the machinery for protein translation and RNA splicing. Glial fractions showed upregulation of (to 2082%), , , , , , , , and as an unspecific neuroinflammatory signature, versus downregulation of axonal (to <19%), and synaptic , , , and mRNAs correlating with circuit disconnection. In all fractions, reductions in , , and were noted versus disease-specific inductions of ribosomal subunits, presumably mirroring the partial loss-of-function of ATXN2 as RNA translation modulator. Selective accumulations of embryonic factors and versus downregulation of adult specify the mutation impact on splicing and translation elongation. As a potential underpinning of toxic gain-of-function, the proteostasis transcript appeared increased in astroglial and microglial fractions. These transcriptome data suggest altered ribosomal and spliceosome machinery, with massive microgliosis versus mild astrogliosis, at the core of SCA2 and ALS13. - Source: PubMed
Publication date: 2026/04/15
Auburger GeorgKandi Arvind ReddyVutukuri RajkumarAlmaguer-Mederos Luis-EnriqueGispert SuzanaSen Nesli-EceKey Jana - Global warming and marine heatwaves have devastating impacts on marine ectotherms. Clams inhabiting sandflats are frequently exposed to air and high temperatures. Different geographical species/populations facing diverse thermal environments may exhibit divergent physiological capabilities to cope with local conditions, and understanding species/population-specific physiological plasticity has been highlighted as important to fully uncover species' tolerance capacity within the highly heterogeneous spatial patterns. In the present study, we conducted metabolomic analyses of four Meretrix populations along China's coast, including three populations of Meretrix petechialis and one of Meretrix lusoria, to illustrate species/population-specific metabolomic responses to thermal stress. Our results indicated that the thermal environments of clam habitats varied along the coastlines. Metabolome responses showed species/population-specific patterns in response to high temperatures, suggesting metabolomic plasticity among species/populations. The northern populations mainly respond to high-temperature stress by enhancing antioxidant defenses and adjusting energy metabolism. Glycerophospholipid metabolism was a vital metabolic response to thermal stress in the southern species/population. GDP-L-fucose levels were positively correlated with the clams' upper thermal limits. Additionally, metabolite-based genome-wide association studies on GDP-L-fucose identified six candidate genes: neuropeptide FF receptor 2-like, E3 ubiquitin-protein ligase rnf213-alpha-like isoform X2, uncharacterized protein LOC123550816, solute carrier family 28 member 3-like isoform X1, adenylate kinase isoenzyme 5-like isoform X6, and E3 ubiquitin-protein ligase TRIM33-like, highlighting the potential roles of codon usage bias and changes in protein structure. Overall, we emphasized metabolome diversity across species/populations and stressed the importance of accounting for it when assessing the impacts of climate change on marine ectotherms. - Source: PubMed
Publication date: 2026/04/22
Hu ZhiWei Xiang-TaoLin XiaonieMa LinxuanZhang TianzheDong Yunwei - Cutaneous melanoma (CM) is an aggressive cancer where early intervention is crucial, but the prognostic role and mechanisms of ubiquitination-related genes (URGs) in immune regulation remain unclear. This study aimed to develop a URG-based prognostic signature and explore its relationship with immune modulation in CM. We integrated single-cell RNA sequencing (scRNA-seq) and bulk RNA-seq data, identifying prognostic URGs through univariate and multivariate Cox regression. A six-gene signature (UBE2L6, SPSB1, PSMB9, PSMB10, RNF213 and ATXN3) was established and validated. The signature effectively stratified patients into high- and low-risk groups, with significant survival differences. Pathway analysis revealed immune-related processes, such as 'cytokine-cytokine receptor interaction' and 'antigen processing and presentation', enriched in the low-risk group. Immune cell infiltration analysis demonstrated significant differences in the abundance of 12 immune cell types between risk groups. Notably, PSMB9 expression was positively correlated with CD8 T cell abundance (r = 0.64, p < 0.05). scRNA-seq analysis highlighted T cells as a key cell type, with all six prognostic genes showing dynamic expression changes during T cell differentiation. Our findings suggest that URGs influence CM prognosis by modulating the immune microenvironment, offering new insights for immunotherapeutic strategies. - Source: PubMed
Publication date: 2026/04/21
Lu JianpingLin ChengGao WeiLiu JieLin YucaiChen YuXiong Jiani - Postoperative regression of periventricular anastomosis (PA) may have important implications for preventing hemorrhagic events in patients with moyamoya disease (MMD). We aimed to identify the genetic factors associated with postoperative PA regression. This retrospective cohort study enrolled 81 patients (102 hemispheres) who underwent combined revascularization surgery. PA types (lenticulostriate, choroidal, and thalamic) were scored from 0 to 2 preoperatively and postoperatively using magnetic resonance angiography, and postoperative regression was evaluated. We extracted all exonic variants in and analyzed differences in their effects on PA regression between the p.Arg4810Lys variant and other variants. Among the 81 participants, 51 (63.0%) carried p.Arg4810Lys (all heterozygotes: GA group), whereas 20 (24.5%) harbored other rare or damaging variants (GG with other variants group). All types of PA regressed significantly in the GA group ( < 0.001 for all), whereas only choroidal PA showed significant regression in the GG with other variants group ( = 0.024). The postoperative decrease in choroidal PA score was greater in the GG with other variants group than in the GA group ( = 0.058). Multivariate analysis using linear mixed-effect models suggested a potential association between choroidal PA score reduction and two factors: the GG genotype with other variants and age < 16 years. Our findings indicate that harboring variants other than p.Arg4810Lys may be associated with greater regression of choroidal PA compared with harboring p.Arg4810Lys in this exploratory cohort. Comprehensive genetic analysis of may enable more accurate prediction of the surgical preventive effect on hemorrhagic events in MMD. - Source: PubMed
Publication date: 2026/04/20
Torazawa SeieiMiyawaki SatoruImai HideakiHongo HirokiShimizu MasahiroOno HideakiOgawa ShotaroSakai YuKiyofuji SatoshiKoizumi SatoshiKomura DaisukeKatoh HirotoIshikawa ShumpeiSaito Nobuhito