Genes & DiseasesPub Date : 2024-09-06DOI: 10.1016/j.gendis.2024.101409
Kaili Liao , Jinting Cheng , Xiajing Yu , Ziqian Liu , Xue Zhang , Yuxin Fu , Wenyige Zhang , Jie Liu , Feifei Teng , Yuxuan Xie , Xiwen Yan , Gaoquan Cao , Bing Sun , Hanqing Zhao , Jingyan Zhang , Xiaozhong Wang
{"title":"Utilization of cuproptosis-related lncRNAs to predict the prognosis of pancreatic cancer patients and explore their roles in immune cell infiltration and prognosis evaluation","authors":"Kaili Liao , Jinting Cheng , Xiajing Yu , Ziqian Liu , Xue Zhang , Yuxin Fu , Wenyige Zhang , Jie Liu , Feifei Teng , Yuxuan Xie , Xiwen Yan , Gaoquan Cao , Bing Sun , Hanqing Zhao , Jingyan Zhang , Xiaozhong Wang","doi":"10.1016/j.gendis.2024.101409","DOIUrl":"10.1016/j.gendis.2024.101409","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 3","pages":"Article 101409"},"PeriodicalIF":6.9,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142198705","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Genes & DiseasesPub Date : 2024-09-04DOI: 10.1016/j.gendis.2024.101407
Xinning Yu , Huatao Wu , Zheng Wu , Yangzheng Lan , Wenjia Chen , Bingxuan Wu , Yu Deng , Jing Liu
{"title":"Nuclear pore complex protein RANBP2 and related SUMOylation in solid malignancies","authors":"Xinning Yu , Huatao Wu , Zheng Wu , Yangzheng Lan , Wenjia Chen , Bingxuan Wu , Yu Deng , Jing Liu","doi":"10.1016/j.gendis.2024.101407","DOIUrl":"10.1016/j.gendis.2024.101407","url":null,"abstract":"<div><div>The growing interest in post-translational protein modification, particularly in SUMOylation, is driven by its crucial role in cell cycle regulation. SUMOylation affects various cell cycle regulators, including oncogenes, suggesting its relevance in cancer. SUMO E3 ligases are pivotal in this process, exhibiting diverse functionalities through structural domains and subcellular localizations. A less-explored SUMO E3 ligase, RANBP2, a component of the vertebrate nuclear pore complex, emerges as a central player in cellular cycle processes, as well as in tumorigenesis. The current studies illuminate the importance of RANBP2 and underscore the need for more extensive studies to validate its clinical applicability in neoplastic interventions. Our review elucidates the significance of RANBP2 across various types of malignancies. Additionally, it delves into exploring RANBP2 as a prospective therapeutic target for cancer treatment, offering insights into the avenues that scholars should pursue in their subsequent research endeavors. Thus, further investigation into RANBP2's role in solid tumorigenesis is eagerly awaited.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 4","pages":"Article 101407"},"PeriodicalIF":6.9,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142198706","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}
Genes & DiseasesPub Date : 2024-09-02DOI: 10.1016/j.gendis.2024.101405
Samira Slimani, Alex G.I. Gagnon, Simon V. Schreiber, Nicolas A.D. Bergeron, Ludwig Haydock, Sébastien Labonté, Marc-Étienne Huot, Alexandre P. Garneau, Guillaume Canaud, Paul Isenring
{"title":"Unique presentation of a novel gain-of-function mutation in MTOR","authors":"Samira Slimani, Alex G.I. Gagnon, Simon V. Schreiber, Nicolas A.D. Bergeron, Ludwig Haydock, Sébastien Labonté, Marc-Étienne Huot, Alexandre P. Garneau, Guillaume Canaud, Paul Isenring","doi":"10.1016/j.gendis.2024.101405","DOIUrl":"10.1016/j.gendis.2024.101405","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 2","pages":"Article 101405"},"PeriodicalIF":6.9,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142198707","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Genes & DiseasesPub Date : 2024-09-01DOI: 10.1016/j.gendis.2024.101406
Li Zhang , Yongsheng Liu , Liang Wang , Li Wang , Li Zheng , Wei He , Li Yan , Lvsu Ye , Huidan Zhang , Junling Tang
{"title":"A novel research model of clonal evolution in mantle cell lymphoma at the single-cell genomic level","authors":"Li Zhang , Yongsheng Liu , Liang Wang , Li Wang , Li Zheng , Wei He , Li Yan , Lvsu Ye , Huidan Zhang , Junling Tang","doi":"10.1016/j.gendis.2024.101406","DOIUrl":"10.1016/j.gendis.2024.101406","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 3","pages":"Article 101406"},"PeriodicalIF":6.9,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143127825","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Genes & DiseasesPub Date : 2024-08-30DOI: 10.1016/j.gendis.2024.101403
Zhao Zou , Linhong Zhong
{"title":"Anaplastic thyroid cancer: Genetic roles, targeted therapy, and immunotherapy","authors":"Zhao Zou , Linhong Zhong","doi":"10.1016/j.gendis.2024.101403","DOIUrl":"10.1016/j.gendis.2024.101403","url":null,"abstract":"<div><div>Anaplastic thyroid cancer (ATC) stands as the most formidable form of thyroid malignancy, presenting a persistent challenge in clinical management. Recent years have witnessed a gradual unveiling of the intricate genetic underpinnings governing ATC through next-generation sequencing. The emergence of this genetic landscape has paved the way for the exploration of targeted therapies and immunotherapies in clinical trials. Despite these strides, the precise mechanisms governing ATC pathogenesis and the identification of efficacious treatments demand further investigation. Our comprehensive review stems from an extensive literature search focusing on the genetic implications, notably the pivotal MAPK and PI3K-AKT-mTOR signaling pathways, along with targeted therapies and immunotherapies in ATC. Moreover, we screen and summarize the advances and challenges in the current diagnostic approaches for ATC, including the invasive tissue sampling represented by fine needle aspiration and core needle biopsy, immunohistochemistry, and <sup>18</sup>F-fluorodeoxyglucose positron emission tomography/computed tomography. We also investigate enormous studies on the prognosis of ATC and outline independent prognostic factors for future clinical assessment and therapy for ATC. By synthesizing this literature, we aim to encapsulate the evolving landscape of ATC oncology, potentially shedding light on novel pathogenic mechanisms and avenues for therapeutic exploration.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 4","pages":"Article 101403"},"PeriodicalIF":6.9,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142198708","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}
Genes & DiseasesPub Date : 2024-08-30DOI: 10.1016/j.gendis.2024.101401
Min Zhu , Xinyu Wang , Hongchang Zhao , Zhenjie Wang
{"title":"Update on R-loops in genomic integrity: Formation, functions, and implications for human diseases","authors":"Min Zhu , Xinyu Wang , Hongchang Zhao , Zhenjie Wang","doi":"10.1016/j.gendis.2024.101401","DOIUrl":"10.1016/j.gendis.2024.101401","url":null,"abstract":"<div><div>R-loops, three-strand nucleic acid structures, have emerged as crucial players in various physiological processes, including the regulation of gene expression, DNA replication, and class switch recombination. However, their presence also poses a significant threat to genome stability. A particularly challenging aspect is understanding the dynamic balance between R-loops' “light” and “dark” sites, especially concerning maintaining genome integrity. The complex and multifaceted roles of R-loops in genome stability necessitate a deeper understanding. This review offers a comprehensive exploration of the formation, resolution, and implications of R-loops, particularly in the context of DNA damage and human disease. We delve into the dualistic nature of R-loops, highlighting their role in DNA damage response and repair, and discuss the therapeutic potential arising from our evolving understanding of these enigmatic entities. Emphasizing recent advancements and unresolved questions, this review aims to provide a cohesive overview of R-loops, inviting further inquiry and investigation into their complex biological significance.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 4","pages":"Article 101401"},"PeriodicalIF":6.9,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142198709","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}
Genes & DiseasesPub Date : 2024-08-30DOI: 10.1016/j.gendis.2024.101400
Bin Wang , Jian Ma , Di Yang
{"title":"Role of PFKM lactylation in glycolysis regulation in endometrial cancer cells","authors":"Bin Wang , Jian Ma , Di Yang","doi":"10.1016/j.gendis.2024.101400","DOIUrl":"10.1016/j.gendis.2024.101400","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 3","pages":"Article 101400"},"PeriodicalIF":6.9,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142198710","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Genes & DiseasesPub Date : 2024-08-28DOI: 10.1016/j.gendis.2024.101399
Jie Li , Yuyuan Zhang , Jinhai Deng , Siyuan Weng , Hui Xu , Yuhao Ba , Anning Zuo , Shutong Liu , Quan Cheng , Jian Zhang , Peng Luo , Zhen Li , Xinwei Han , Zaoqu Liu
{"title":"Cross-talk between lactate metabolism and immunity reveals CEP55 as a potential regulator in the immunosuppressive microenvironment of hepatocellular carcinoma","authors":"Jie Li , Yuyuan Zhang , Jinhai Deng , Siyuan Weng , Hui Xu , Yuhao Ba , Anning Zuo , Shutong Liu , Quan Cheng , Jian Zhang , Peng Luo , Zhen Li , Xinwei Han , Zaoqu Liu","doi":"10.1016/j.gendis.2024.101399","DOIUrl":"10.1016/j.gendis.2024.101399","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 3","pages":"Article 101399"},"PeriodicalIF":6.9,"publicationDate":"2024-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142198712","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Genes & DiseasesPub Date : 2024-08-28DOI: 10.1016/j.gendis.2024.101402
Charles B. Trelford , Trevor G. Shepherd
{"title":"Insights into targeting LKB1 in tumorigenesis","authors":"Charles B. Trelford , Trevor G. Shepherd","doi":"10.1016/j.gendis.2024.101402","DOIUrl":"10.1016/j.gendis.2024.101402","url":null,"abstract":"<div><div>Genetic alterations to serine-threonine kinase 11 (<em>STK11</em>) have been implicated in Peutz-Jeghers syndrome and tumorigenesis. Further exploration of the context-specific roles of liver kinase B1 (LKB1; encoded by <em>STK11</em>) observed that it regulates AMP-activated protein kinase (AMPK) and AMPK-related kinases. Given that both migration and proliferation are enhanced with the loss of LKB1 activity combined with the prevalence of <em>STK11</em> genetic alterations in cancer biopsies, LKB1 was marked as a tumor suppressor. However, the role of LKB1 in tumorigenesis is paradoxical as LKB1 activates autophagy and reactive oxygen species scavenging while dampening anoikis, which contribute to cancer cell survival. Due to the pro-tumorigenic properties of LKB1, targeting LKB1 pathways is now relevant for cancer treatment. With the recent successes of targeting LKB1 signaling in research and clinical settings, and enhanced cytotoxicity of chemical compounds in LKB1-deficient tumors, there is now a need for LKB1 inhibitors. However, validating LKB1 inhibitors is challenging as LKB1 adaptor proteins, nucleocytoplasmic shuttling, and splice variants all manipulate LKB1 activity. Furthermore, STE-20-related kinase adaptor protein (STRAD) and mouse protein 25 dictate LKB1 cellular localization and kinase activity. For these reasons, prior to assessing the efficacy and potency of pharmacological candidates, the functional status of LKB1 needs to be defined. Therefore, to improve the understanding of LKB1 in physiology and oncology, this review highlights the role of LKB1 in tumorigenesis and addresses the therapeutic relevancy of LKB1 inhibitors.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 2","pages":"Article 101402"},"PeriodicalIF":6.9,"publicationDate":"2024-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142198711","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Genes & DiseasesPub Date : 2024-08-26DOI: 10.1016/j.gendis.2024.101398
Kaishu Li , Yin Zheng , Shubing Cai , Zhiming Fan , Junyi Yang , Yuanrun Liu , Shengqi Liang , Meihui Song , Siyuan Du , Ling Qi
{"title":"The subventricular zone structure, function and implications for neurological disease","authors":"Kaishu Li , Yin Zheng , Shubing Cai , Zhiming Fan , Junyi Yang , Yuanrun Liu , Shengqi Liang , Meihui Song , Siyuan Du , Ling Qi","doi":"10.1016/j.gendis.2024.101398","DOIUrl":"10.1016/j.gendis.2024.101398","url":null,"abstract":"<div><div>The subventricular zone (SVZ) is a region surrounding the lateral ventricles that contains neural stem cells and neural progenitor cells, which can proliferate and differentiate into various neural and glial cells. SVZ cells play important roles in neurological diseases like neurodegeneration, neural injury, and glioblastoma multiforme. Investigating the anatomy, structure, composition, physiology, disease associations, and related mechanisms of SVZ is significant for neural stem cell therapy and treatment/prevention of neurological disorders. However, challenges remain regarding the mechanisms regulating SVZ cell proliferation, differentiation, and migration, delivering cells to damaged areas, and immune responses. In-depth studies of SVZ functions and related therapeutic developments may provide new insights and approaches for treating brain injuries and degenerative diseases, as well as a scientific basis for neural stem cell therapy. This review summarizes research findings on SVZ and neurological diseases to provide references for relevant therapies.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 3","pages":"Article 101398"},"PeriodicalIF":6.9,"publicationDate":"2024-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142198713","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}