Genes & Diseases最新文献_第5页

Exploring CISD1 as a multifaceted biomarker in cancer: Implications for diagnosis, prognosis, and immunotherapeutic response 探索CISD1作为癌症的多方面生物标志物：对诊断、预后和免疫治疗反应的影响

IF 9.4 2区医学

Genes & Diseases Pub Date : 2025-05-08 DOI: 10.1016/j.gendis.2025.101677

Caiyue Li , Zhipin Liang , Gabrielle Vontz , Connor Kent , Wenbo Ma , Lei Liu , Riya Dahal , Jovanny Zabaleta , Guoshuai Cai , Jia Zhou , Huangen Ding , Qiang Shen

{"title":"Exploring CISD1 as a multifaceted biomarker in cancer: Implications for diagnosis, prognosis, and immunotherapeutic response","authors":"Caiyue Li , Zhipin Liang , Gabrielle Vontz , Connor Kent , Wenbo Ma , Lei Liu , Riya Dahal , Jovanny Zabaleta , Guoshuai Cai , Jia Zhou , Huangen Ding , Qiang Shen","doi":"10.1016/j.gendis.2025.101677","DOIUrl":"10.1016/j.gendis.2025.101677","url":null,"abstract":"<div><div>CISD1, an outer mitochondrial membrane iron-sulfur cluster protein, regulates intracellular iron levels, oxidative stress, and mitochondrial dynamics, playing critical roles in cellular bioenergetics and redox homeostasis. Although CISD1 has been identified as a prognostic biomarker in specific cancers, its broader implications in tumorigenesis, cancer progression, and immunotherapy remain unclear. Given the heterogeneity of cancer and the need for robust biomarkers across cancers, this study conducts the first comprehensive pan-cancer analysis of CISD1 by evaluating its roles in cancer and treatment. We obtained and analyzed data from databases including TCGA, GTEx, THPA, GEPIA2.0, SangerBox, cBioPortal, TIMER2.0, CAMOIP, DAVID, SRPLOT, and TISIDB. Our findings reveal significant alterations in CISD1 expression at both transcriptional and translational levels, as well as gene mutations across multiple cancers, indicating its potential as a diagnostic biomarker and its involvement in cancer development and progression. CISD1 dysregulation is linked to poor clinical outcomes, as shown through its impact on patient prognosis. GO and KEGG analyses show that CISD1 plays critical roles in cellular bioenergetics. Notably, CISD1 expression is significantly correlated with tumor stemness indices, tumor mutation burden, microsatellite instability, and immune checkpoint proteins in multiple cancers, and altered CISD1 levels are also observed in patients responding to immunotherapy, further supporting its role not only in prognosis but also as a key predictor in immunotherapy responses and outcomes. Our findings demonstrate CISD1 as a reliable and promising diagnostic, prognostic, and immunotherapeutic biomarker for multiple cancers, emphasizing its crucial role in cancer biology and potential to guide personalized cancer therapies.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 6","pages":"Article 101677"},"PeriodicalIF":9.4,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144827355","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A novel oridonin analogue, CYD0682, suppresses breast cancer growth, angiogenesis, and metastasis by inhibiting the ANGPTL4/MAPK signaling axis 一种新的oridonin类似物CYD0682通过抑制ANGPTL4/MAPK信号轴抑制乳腺癌的生长、血管生成和转移

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-05-08 DOI: 10.1016/j.gendis.2025.101681

Xiaobin Mai , Le Wang , Juan Tu , Jialin Li , Jun Li , Yaping Zhan , Pei Tang , Ying Wang , Yan Wang , Lingyun Zheng , Qianqian Zhang , Jiangchao Li , Xiong Li , Lijing Wang , Jia Zhou , Cuiling Qi

引用次数: 0

Transcriptomic landscapes underlying response and resistance to HDAC inhibitor chidamide in triple-negative breast cancer 三阴性乳腺癌对HDAC抑制剂奇达胺的应答和耐药的转录组学景观

IF 9.4 2区医学

Genes & Diseases Pub Date : 2025-05-08 DOI: 10.1016/j.gendis.2025.101676

Yanxia Zhang , Yunduo Liu , Mei Zhang , Guanjie Li , Qin Xiang , Shunhong Wu , Keping Xie , Bin Xiao , Linhai Li

引用次数: 0

lncRNA ADAMTS9-AS2/let-7a-5p axis regulates metabolic reprogramming by targeting HK2 in oral submucous fibrosis-associated oral squamous cell carcinoma lncRNA ADAMTS9-AS2/let-7a-5p轴通过靶向口腔黏膜下纤维化相关口腔鳞状细胞癌中的HK2调控代谢重编程

IF 9.4 2区医学

Genes & Diseases Pub Date : 2025-05-05 DOI: 10.1016/j.gendis.2025.101670

Shanghui Zhou , Jingyu Zhan , Jia Wang , Jingang Yang , Dahe Zhang , Zhenming Li , Yue He

{"title":"lncRNA ADAMTS9-AS2/let-7a-5p axis regulates metabolic reprogramming by targeting HK2 in oral submucous fibrosis-associated oral squamous cell carcinoma","authors":"Shanghui Zhou , Jingyu Zhan , Jia Wang , Jingang Yang , Dahe Zhang , Zhenming Li , Yue He","doi":"10.1016/j.gendis.2025.101670","DOIUrl":"10.1016/j.gendis.2025.101670","url":null,"abstract":"<div><div>Oral squamous cell carcinoma in the background of/with oral submucous fibrosis (OSCC-OSF) has a unique etiology and is clinically distinct from other OSCCs. We previously identified ADAMTS9-AS2 as a functional tumor suppressor in OSCC-OSF through the regulation of PI3K-AKT signaling. However, its role in metabolic modulation and the underlying mechanisms remain unclear. In this study, we reported for the first time that ADAMTS9-AS2 suppressed aerobic glycolysis by cooperating with let-7a-5p in OSCC cells. Mechanistically, let-7a-5p inhibited HK2 expression by targeting its 3′-UTR, further deregulating glycolytic function, while enhancing HK2 expression rescued the inhibitory effects of the ADAMTS9-AS2/let-7a-5p axis on aerobic glycolysis and OSCC cell growth. Exosomal ADAMTS9-AS2 regulated metabolic reprogramming during OSCC tumorigenesis. ABC transporters in lipid and pyrimidine metabolism were significantly enriched pathways. Changes in several key metabolites were identified after ADAMTS9-AS2 exosome treatment, including increased levels of DL-glutamic acid and D-mannose, along with decreased levels of cytidine and D-maltose. Thus, our findings demonstrate that ADAMTS9-AS2 drives let-7a-5p binding to HK2 to suppress cell growth in OSCC by abolishing aerobic glycolysis. Our data on metabolic reprogramming have greatly expanded the role of the ADAMTS9-AS2/let-7a-5p axis as a key regulator of metabolism during OSCC tumorigenesis.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 6","pages":"Article 101670"},"PeriodicalIF":9.4,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144827356","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The mechanism of m6A modification in cardiovascular diseases: A systematic review 心血管疾病中m6A修饰的机制：系统综述

IF 9.4 2区医学

Genes & Diseases Pub Date : 2025-05-05 DOI: 10.1016/j.gendis.2025.101672

Hongjiao Liu , Tao Song , Yan Huang

{"title":"The mechanism of m6A modification in cardiovascular diseases: A systematic review","authors":"Hongjiao Liu , Tao Song , Yan Huang","doi":"10.1016/j.gendis.2025.101672","DOIUrl":"10.1016/j.gendis.2025.101672","url":null,"abstract":"<div><div>N6-methyladenosine (m6A) is the most prolific and conserved epigenetic modification of eukaryotic RNAs and is closely associated with the transcription, cleavage, translation, and degradation of target mRNAs. Cardiovascular disease (CVD) is the leading cause of death globally, with a significant research area focusing on understanding its pathogenesis and identifying effective therapeutic strategies. Recent advances in RNA methylation have revealed that m6A RNA modifications play a critical role in the initiation and progression of CVDs, potentially offering new insights into the development of these diseases. Interactions among various components influencing m6A modification levels regulate the effects of downstream targets, either by promoting or inhibiting CVD progression. This review connects the different types of CVDs and discusses the regulatory processes and intricate interactions between m6A methyltransferases and demethylases. We suggest that m6A RNA methylation could uncover potential targets for diagnosing and treating diseases, providing a clear view of how m6A modification affects CVDs and explaining the related molecular mechanisms and biological functions.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"13 1","pages":"Article 101672"},"PeriodicalIF":9.4,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145217175","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

MyoAAV-delivered sup-tRNA increases full-length dystrophin expression myoaav递送的sup-tRNA增加全长肌营养不良蛋白的表达

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-05-03 DOI: 10.1016/j.gendis.2025.101666

Xiuyi Ai , Yue Chang , Ruo Wu , Jie Liu , Pei Zhang , Yayu Wang , Zhuoyin Zheng , Shu Zhang , Yongchang Chen , Shiwen Wu

引用次数: 0

Evolutionary characteristics, biochemical structure, and function impact of MSTN gene MSTN基因的进化特征、生化结构及功能影响

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-05-02 DOI: 10.1016/j.gendis.2025.101668

Rui Zhang , Yunpeng Wu , Tianqi Sun , Zhengxing Lian , Jingqing Chen , Yefeng Qiu

引用次数: 0

The effect of sodium-glucose cotransporter 2 inhibition mediated by blood metabolites in lymphocytic leukemia 血代谢物介导的钠-葡萄糖共转运蛋白2抑制在淋巴细胞白血病中的作用

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-05-02 DOI: 10.1016/j.gendis.2025.101664

Diguang Wen , Kai Lei , Xiang Ma, Jianchuan Deng

引用次数: 0

Unraveling the role of the WIPF1/ACTN4 complex in podosome formation of human placental EVTs: Insights into recurrent spontaneous abortion 揭示WIPF1/ACTN4复合物在人胎盘evt足体形成中的作用：对复发性自然流产的见解

IF 9.4 2区医学

Genes & Diseases Pub Date : 2025-05-02 DOI: 10.1016/j.gendis.2025.101665

Cong Li , Shengya Wang , Jing Tang , Xin Luo , Luxing Ge , Youlong Xie , Lijuan Fu , Lingling Ruan , Enoch Appiah Adu-Gyamfi , Fangfang Li , Yingxiong Wang , Hongbo Qi , Yubin Ding

{"title":"Unraveling the role of the WIPF1/ACTN4 complex in podosome formation of human placental EVTs: Insights into recurrent spontaneous abortion","authors":"Cong Li , Shengya Wang , Jing Tang , Xin Luo , Luxing Ge , Youlong Xie , Lijuan Fu , Lingling Ruan , Enoch Appiah Adu-Gyamfi , Fangfang Li , Yingxiong Wang , Hongbo Qi , Yubin Ding","doi":"10.1016/j.gendis.2025.101665","DOIUrl":"10.1016/j.gendis.2025.101665","url":null,"abstract":"<div><div>Successful placental development and pregnancy rely on effective extravillous trophoblast (EVT) invasion. The mechanisms underlying inadequate EVT invasion in recurrent spontaneous abortion (RSA) remain unclear. WAS/WASL interacting protein family member 1 (WIPF1), the key regulator of cytoskeletal dynamics, is exclusively expressed in first-trimester placental EVTs. Knockdown experiments revealed WIPF1's crucial involvement in successful placental development; reduced levels impaired cell migration, while overexpression induced the opposite effects. Moreover, WIPF1 knockdown in hTSC-derived EVTs hampered trophoblast differentiation. WIPF1 interacted with ACTN4 to regulate podosome formation, matrix degradation, and actin polymerization, potentially mediated by its ARG54 site. Notably, WIPF1 was significantly down-regulated in human RSA patient EVTs and RSA mice trophoblast giant cells (CBA/J × DBA/2). This association suggests WIPF1 as a potential key player in RSA pathogenesis. In conclusion, our study spotlights WIPF1 as a pivotal factor in EVT invasion, emphasizing its multifaceted roles and implications in pregnancy complications like RSA.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 6","pages":"Article 101665"},"PeriodicalIF":9.4,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144809877","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

X26nt-mediated recruitment of eIF4A2 facilitates CCND1 translation to drive endothelial cell cycle progression x26nt介导的eIF4A2的募集促进了CCND1的翻译，从而驱动内皮细胞周期的进展

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-05-02 DOI: 10.1016/j.gendis.2025.101667

Xinghe Zhao , Xiaocui Chen , Zheyi Chen , Lisong Shen , Lingfang Zeng , Junyao Yang

引用次数: 0