Ask about this productRelated genes to: EXOSC8 antibody
- Gene:
- EXOSC8 NIH gene
- Name:
- exosome component 8
- Previous symbol:
- -
- Synonyms:
- OIP2, RRP43, bA421P11.3, Rrp43p, EAP2, p9, CIP3
- Chromosome:
- 13q13.3
- Locus Type:
- gene with protein product
- Date approved:
- 2004-03-26
- Date modifiied:
- 2016-10-05
Related products to: EXOSC8 antibody
Related articles to: EXOSC8 antibody
- In recent years, liquid-liquid phase separation (LLPS) has garnered increasing attention in the field of oncology. However, its role in osteosarcoma remains largely unexplored. We aimed to construct a prognostic risk model associated with LLPS and to investigate the impact of LLPS-related genes on osteosarcoma briefly. - Source: PubMed
Publication date: 2025/12/29
Huang XinyuXiong LiangZeng JiaxingLi ShanhangCai YangjieZou ZhuanYang MingxiuLi HeningLiu YunHe Maolin - Head and neck paragangliomas (HNPGLs) are rare neuroendocrine tumors that originate in the parasympathetic paraganglia of the head and neck. The diagnosis of these tumors is challenging, and the therapeutic options are limited. The study of HNPGLs is fraught with challenges at every stage. One of the main problems is the absence of HNPGL cell lines in cell repositories, which is associated with the difficulty of their culturing and low division rate. In this regard, neither functional nor preclinical studies are available for this category of tumors. This significantly slows down the study of the molecular mechanisms of HNPGL pathogenesis and the development of effective therapeutic approaches. Here, we investigated the molecular genetic characteristics of the primary HNPGL culture. Using the single-cell RNA sequencing method, expression patterns were analyzed, and cell types were annotated. The results demonstrated that the HNPGL primary culture cells were optimally divided into three clusters and had different degrees of differentiation, expressing neural tissue cell and stem cell markers. Exome sequencing revealed genetic abnormalities in the HNPGL culture, including mutations in the IGSF3, DHH, EXOSC8, SERPINA1, TYR, and NQO1 genes, aneuploidy, as well as multiple chromosomal duplications and deletions. These results enhance our knowledge of the molecular genetic features of successfully cultured HNPGL tumor cells. - Source: PubMed
Snezhkina A VFedorova M SPavlov V SPudova E AKatunina I VKalinin D VKobelyatskaya A AKudryavtseva A V - - Source: PubMed
Publication date: 2025/10/09
Sharifi ShahrashoubHeidargholizadeh G SomayyehNazemi AliÖzcan ÖzdenSahin AylaPalanduz ŞükrüŞentürk Leyli - Head and neck squamous cell carcinoma (HNSC) is a highly aggressive malignancy with poor prognosis, necessitating the identification of novel biomarkers for improved diagnosis and treatment. The exosome complex (EXOSC) family plays a crucial role in RNA metabolism, but its significance in HNSC remains poorly understood. We performed a comprehensive multi-omics analysis integrating data from TCGA, GEO, CPTAC, and the Human Protein Atlas to investigate the expression, prognostic value, and immune relevance of EXOSC genes in HNSC. We conducted differential expression analysis, survival analysis (OS, DSS, PFI), ROC curve evaluation, and clinicopathological correlation studies. Genetic alterations were examined using cBioPortal. Gene co-expression and enrichment analyses were used to elucidate potential molecular functions, and a protein-protein interaction (PPI) network was constructed via GeneMANIA. Immune infiltration, immune checkpoint correlations, and RNA modification associations were assessed using ssGSEA, Spearman correlation, and RNA modification databases. Experimental validation was performed by qRT-PCR in HNSC and normal cell lines. All EXOSC family members were significantly upregulated in HNSC tissues and cell lines. ROC analysis demonstrated favorable diagnostic potential, particularly for EXOSC2 (AUC = 0.910). Elevated expression of EXOSC2, EXOSC3, EXOSC8, and EXOSC9 was significantly associated with poor OS, DSS, and PFI. High expression of EXOSC2, EXOSC4, EXOSC5, and EXOSC9 correlated with advanced clinical stage, lymphovascular invasion, and poor therapeutic outcomes. cBioPortal analysis revealed EXOSC4 had the highest genetic alteration frequency (8%), primarily due to amplification. Immune infiltration analysis showed EXOSC gene expression was significantly correlated with various immune cell populations and immune checkpoint molecules, especially EXOSC3, EXOSC9, and EXOSC10. Functional enrichment and PPI network analyses indicated that EXOSC family genes participate in RNA metabolism, exoribonuclease activity, and immune-related pathways. A prognostic risk model based on EXOSC co-expressed genes demonstrated strong predictive performance for patient survival. Our study reveals that EXOSC family genes are significantly dysregulated in HNSC and are associated with tumor progression, prognosis, immune microenvironment modulation, and RNA modification. These findings highlight the potential of EXOSC members as novel diagnostic and prognostic biomarkers and suggest their relevance as therapeutic targets in HNSC. - Source: PubMed
Publication date: 2025/08/19
Zhang XuezhongZhao MengmengChu TingtingWei JiashaJia Qingmei - Pontocerebellar hypoplasia is a rare neurodegenerative syndrome characterized by severe hypoplasia or atrophy of pons and cerebellum that may be associated with other brain malformations, microcephaly, optic nerve atrophy, dystonia, ataxia and neuromuscular disorders. At this time, there are 17 variants of PCH distinguished by clinical presentation and distinctive radiological and biochemical features in addition to pontine and cerebellar hypoplasia. PCH1 is defined as PCH variant associated with anterior horn degeneration in the spinal cord with muscle weakness and hypotonia, and is associated with recessive variants in genes VRK1, EXOSC3, EXOSC8, EXOSC9 and SLC25A46. Neuromuscular manifestations may clinically present as amyotrophic lateral sclerosis (ALS), motor neuropathy (HMN) or neuronopathy (non-5q spinal muscular atrophy; SMA) or sensorimotor polyneuropathy (HMSN). Physiologic functions of PCH1-associated genes include regulation of RNA metabolism, mitochondrial fission and neuronal migration. Overall, complex phenotypes associated with PCH1 gene variants ranging from PCH and related neurodevelopmental disorders combined with neuromuscular disorders to isolated neuromuscular disorders have variable outcomes with isolated neuromuscular disorders typically having later onset with better outcomes. Improved understanding of pathogenesis of pontocerebellar hypoplasia and its association with motor neuronopathies and peripheral neuropathies may provide us with valuable insights and lead to potential new therapeutic targets for neurodegenerative disorders. - Source: PubMed
Publication date: 2025/05/15
Škarica MarioAcsadi GyulaŽivković Sasha A