Ask about this productRelated genes to: RASEF antibody
- Gene:
- RASEF NIH gene
- Name:
- RAS and EF-hand domain containing
- Previous symbol:
- RAB45
- Synonyms:
- FLJ31614
- Chromosome:
- 9q21.32
- Locus Type:
- gene with protein product
- Date approved:
- 2004-04-29
- Date modifiied:
- 2016-10-05
Related products to: RASEF antibody
Related articles to: RASEF antibody
- BACKGROUND: Polycystic ovary syndrome (PCOS) is a complex endocrine disorder characterized by hyperandrogenism, ovulatory dysfunction, and polycystic ovaries. Despite its prevalence, the underlying mechanisms contributing to the pathogenesis of PCOS remain poorly understood. This study aims to investigate the gene expression profiles in human granulosa cells and mouse models of PCOS to identify critical risk genes linked to hyperandrogenism and to elucidate their potential roles in the pathogenesis of PCOS. By integrating transcriptomic data from various sources, we seek to uncover the molecular pathways that may contribute to the development and progression of PCOS. METHODS: We initiated our study by performing RNA sequencing (RNA-seq) on human granulosa cells from patients with polycystic ovary syndrome (PCOS). Subsequently, we induced PCOS-like mouse models by administering dehydroepiandrosterone (DHEA) to 21-day-old mice and conducted RNA-seq on mouse ovaries and granulosa cells to obtain gene expression profiles. Bioinformatics analyses were performed using R software, where we identified differentially expressed genes (DEGs) between PCOS and control groups in both human and mouse samples. These DEGs were analyzed for Gene Ontology (GO) terms and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways to determine their biological functions. To identify critical genes involved in PCOS, we integrated DEGs from the three datasets and performed Gene Set Enrichment Analysis (GSEA) to characterize gene expression patterns in enriched pathways. We validated the expression of critical genes using quantitative reverse transcription PCR (RT-qPCR) and Western blot analyses, and determined their localization in mouse granulosa cells through immunofluorescence (IF) and immunohistochemistry (IHC). Finally, we evaluated gene silencing effects of identified genes using siRNA in KGN cell lines. RESULTS: From the analysis of the three datasets, we identified seven critical co-genes: CDH23, CLMN, RASEF, ABCB4, PLAU, STEAP4, and CYP2S1. RT-qPCR and Western blot analyses confirmed that PLAU was significantly upregulated in PCOS granulosa cells, with IHC and IF studies showing its localization in the membrane and nucleus. Finally, silencing PLAU in KGN cells resulted in decreased mRNA and protein levels of CYP11A1, CYP19A1, STAR, p65, p-p65, p-IKB, Bax, Bax/Bcl2 and cleaved caspase 3. CONCLUSION: This study identified seven critical genes (CDH23, CLMN, RASEF, ABCB4, PLAU, STEAP4, CYP2S1) expressed in granulosa cells. Notably, we found that the upregulation of PLAU in granulosa cells reduces estrogen secretion and promotes apoptosis by activating the NF-κB signaling pathway in PCOS. This represents the first exploration of PLAU’s involvement in the pathogenesis of PCOS, suggesting that PLAU may serve as a novel molecular target for enhancing granulosa cell function. These findings could provide new insights into diagnostic and therapeutic strategies for PCOS. - Source: PubMed
Publication date: 2025/12/29
Chen WenxiuZhang HanzhiJiang MingxinSu XingChen JingfeiChen Jianlin - Apolipoprotein E () allele 4 (), one of the robust genetic risk factors for AD, has also been associated with cognitive decline in terms of memory, executive function, language, and global cognitive function. genotype-stratified analysis can help to identify additional genetic loci which might be masked due to a strong effect of . We conducted a genome-wide meta-analysis in carriers, carriers, and 3/3 homozygote groups among 2969 non-Hispanic Whites aged ≥ 65 years using slopes of decline over time across five cognitive domains (attention, language, executive function, memory, and visuospatial function) and global cognitive function. We identified novel genome-wide significant associations for decline in global cognitive function in the intergenic region between at rs116379916 ( = 1.44 × 10) in the 3/3 group and for decline in language in the intergenic region between at rs13187183 ( = 3.79 × 10) in carriers. A previously reported locus for decline in attention near at rs6559700 ( = 9.95 × 10) was found to be confined to the 3/3 group. We also found two sub-threshold significant associations in the 2 group for decline in attention (/rs77127114; = 8.64 × 10) and decline in language (, rs116191836; = 5.66 × 10). Our study points to potential biological pathways pertaining to specific domains within each genotype group, and the findings suggest that immune-related pathways, plasma levels of polysaturated fatty acids, and bitter taste receptors may play roles in cognitive decline. Our findings enhance the understanding of cognitive aging and provide a framework for future studies. - Source: PubMed
Publication date: 2025/07/19
Acharya VibhaFan Kang-HsienSnitz Beth EGanguli MaryDeKosky Steven TLopez Oscar LFeingold EleanorKamboh M Ilyas - Sirtuin 6 (Sirt6) is expressed at increased levels in many tumors and may be involved in immunoregulation. The present study investigated how Sirt6 in tumor cells affects immune surveillance. - Source: PubMed
Publication date: 2025/03/25
Zhang Nan YangLiu Wen YuanFang Ke HuaChang Xiao Tian - This study aims to elucidate the role of cAMP responsive element binding protein 3 like 4 (CREB3L4) in the pathogenesis of lung adenocarcinoma (LUAD) and to provide new insights and approaches for its effective treatment. An analysis was conducted on the expression and prognostic implications of CREB3L4 in LUAD. - Source: PubMed
Publication date: 2024/11/15
Liu XiaoGuo LeiChen XiLiu Zi-TaoZhu Yan-HuaXiao MeiLiu Jie-ZhenChen XuZhang Yan-Liang - miR-497/195, located at 17p13.1, is a highly conserved miRNA cluster whose abnormal expression is a key regulator of carcinogenesis. We performed a comprehensive analysis of the miR-497/195 cluster to determine its prognostic utility and role in cervical cancer (CC) using publicly available datasets. - Source: PubMed
Publication date: 2024/08/02
Karunakara Shreyas HulusemaneEswaran SangaviMallya SandeepSuresh Padmanaban SChakrabarty SanjibanKabekkodu Shama Prasada