Genes & Diseases最新文献_第5页

Identification and functional characterization of a novel nonsense mutation of CASR gene in a familial hypocalciuric hypercalcemia pedigree 家族性低钙高钙血症家系中CASR基因新无义突变的鉴定和功能表征

IF 9.4 2区医学

Genes & Diseases Pub Date : 2026-05-01 Epub Date: 2025-07-25 DOI: 10.1016/j.gendis.2025.101781

Yang Tian , Bingyang Liu , Yang Xudan , Ruojun Qiu , Zhang Shaojun , Huang Haoshu , Wu Fang , Fenping Zheng

引用次数: 0

Fatty acid metabolic reprogramming in the tumor microenvironment: Unraveling mechanisms and therapeutic prospects 肿瘤微环境中的脂肪酸代谢重编程：揭示机制和治疗前景

IF 9.4 2区医学

Genes & Diseases Pub Date : 2026-05-01 Epub Date: 2025-07-14 DOI: 10.1016/j.gendis.2025.101772

Wenxin Zhang , Peiwen Wang , Guiqiang Yuan , Fusheng Liu , Guishan Jin , Junwen Zhang

{"title":"Fatty acid metabolic reprogramming in the tumor microenvironment: Unraveling mechanisms and therapeutic prospects","authors":"Wenxin Zhang , Peiwen Wang , Guiqiang Yuan , Fusheng Liu , Guishan Jin , Junwen Zhang","doi":"10.1016/j.gendis.2025.101772","DOIUrl":"10.1016/j.gendis.2025.101772","url":null,"abstract":"<div><div>Lipid metabolic reprogramming has emerged as a hallmark in cancer research, especially that of fatty acids (FAs). It promotes the effective utilization of the limited nutrients in the tumor microenvironment (TME) by the cells and has considerably been associated with immune escape. Tumor cells exhibit enhanced FA uptake, synthesis, and oxidation for metabolic adaptation, and non-tumor cells also undergo FA metabolic remolding in the TME. Owing to the essential role of FA metabolism in TME, the associated critical enzymes may be targeted for developing novel therapeutic approaches. This review aims to comprehensively summarize the FA metabolic landscapes in various cancers and FA-related molecular changes, FA metabolic reprogramming in different cells in the TME to identify potential targets, and FA-related cell interactions and underlying mechanisms in the TME. The findings of this study may provide insights into exploring the intricate FA metabolism–TME adaptation interplay to uncover potential metabolic targets of therapeutic significance for combinatorial strategies and enhancing immunotherapy.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"13 3","pages":"Article 101772"},"PeriodicalIF":9.4,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146074388","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 potential clinical implications of extrachromosomal circular DNA as a biomarker 染色体外环状DNA作为生物标志物的潜在临床意义

IF 9.4 2区医学

Genes & Diseases Pub Date : 2026-05-01 Epub Date: 2025-06-24 DOI: 10.1016/j.gendis.2025.101734

Xuanmei Luo , Jian Cui , Hexin Li , Gang Zhao , Lihui Zou

引用次数: 0

Intratumoral microenvironment remodeling by lncRNA ROLLCSC enhances lung adenocarcinoma progression lncRNA ROLLCSC对瘤内微环境的重塑促进肺腺癌的进展

IF 9.4 2区医学

Genes & Diseases Pub Date : 2026-05-01 Epub Date: 2025-08-05 DOI: 10.1016/j.gendis.2025.101788

Yu-Han Zhang , Jia-Cheng Xie , Ting Ye , Shi-Meng Guo , Xue Han , Si Yang , Lei Shi , Yi-Shi Li , H. Rosie Xing , Jing-Yu Li , Jian-Yu Wang

{"title":"Intratumoral microenvironment remodeling by lncRNA ROLLCSC enhances lung adenocarcinoma progression","authors":"Yu-Han Zhang , Jia-Cheng Xie , Ting Ye , Shi-Meng Guo , Xue Han , Si Yang , Lei Shi , Yi-Shi Li , H. Rosie Xing , Jing-Yu Li , Jian-Yu Wang","doi":"10.1016/j.gendis.2025.101788","DOIUrl":"10.1016/j.gendis.2025.101788","url":null,"abstract":"<div><div>Metabolic reprogramming is one of the eight hallmarks of cancer, and in lung cancer, it is notably linked to ferroptosis-related lipid metabolism. Cancer stem cells, regarded as the initiating cells of cancer, can extensively influence the tumor microenvironment (TME). Nevertheless, their role in metabolic reprogramming within lung adenocarcinoma (LUAD) remains incompletely explored. In this study, through molecular biology experiments including RNA-seq, proteomics, RNA pulldown, and PCR, we discovered a novel and intricate mechanism by which the lncRNA ROLLCSC, derived from extracellular vesicles (EVs) of LUAD stem cells, regulates the tumor TME. Mechanistically, lncRNA ROLLCSC can interact with CDC42, a GTPase protein, mediating a positive feedback loop that promotes the entry of more EVs into recipient lung cancer cells (LLC). FTO-mediated m6A demethylation enhances the stability of ROLLCSC, which is recognized by the reader protein IGF2BP2 in recipient LLC cells. Most importantly, lncRNA ROLLCSC can reshape the lipid metabolism of LLC cells by targeting ACSL4 and <em>Slc25a11</em>, thereby enhancing their resistance to ferroptosis. Clinically, ROLLCSC and its targets are associated with distinct tumor expression patterns and have prognostic significance. Overall, our study elucidates how the lncRNA ROLLCSC derived from cancer stem cell (CSC)-derived EVs is efficiently transported to LUAD cells, subsequently reshaping the lipid metabolism of recipient cells and enhancing their resistance to ferroptosis.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"13 3","pages":"Article 101788"},"PeriodicalIF":9.4,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146170454","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

Kitlg dysfunction is associated with hearing and pigmentation abnormalities Kitlg功能障碍与听力和色素沉着异常有关

IF 9.4 2区医学

Genes & Diseases Pub Date : 2026-05-01 Epub Date: 2025-10-22 DOI: 10.1016/j.gendis.2025.101890

Yun Xiao , Ruifeng Qiao , Jing Cai , Lei Chen , Yu Jin , Aizhen Zhang , Shuhui Kong , Yongdong Song , Haibo Wang , Lei Xu

引用次数: 0

Data-driven identification of core tumor-secreted factors associated with cachexia prevalence 数据驱动识别与恶病质患病率相关的核心肿瘤分泌因子

IF 9.4 2区医学

Genes & Diseases Pub Date : 2026-05-01 Epub Date: 2025-10-17 DOI: 10.1016/j.gendis.2025.101883

Sarah Santiloni Cury , Paula Paccielli Freire , Robson Francisco Carvalho

引用次数: 0

Roles of efferocytosis in wound repair: Process, cells, and signals efferocysis在伤口修复中的作用：过程、细胞和信号

IF 9.4 2区医学

Genes & Diseases Pub Date : 2026-05-01 Epub Date: 2025-11-13 DOI: 10.1016/j.gendis.2025.101937

Yilin Sun , Haiying Guo , Yang Bai , Jin Chen , Yuhong Li

{"title":"Roles of efferocytosis in wound repair: Process, cells, and signals","authors":"Yilin Sun , Haiying Guo , Yang Bai , Jin Chen , Yuhong Li","doi":"10.1016/j.gendis.2025.101937","DOIUrl":"10.1016/j.gendis.2025.101937","url":null,"abstract":"<div><div>Efficient clearance of apoptotic cells, termed efferocytosis, is essential for resolving excessive inflammation, promoting wound repair, and maintaining homeostasis. Defective clearance results in the accumulation of dead cells and other metabolites, which are responsible for chronic inflammation, nonhealing of wounds, and tissue regeneration. Emerging evidence shows that the failure to resolve inflammation and defective phagocytosis or efferocytosis increases the possibility of several diseases involving diabetic wounds and damage to the gastrointestinal mucosa in patients with inflammatory bowel disease, which is a focus of medical development and the public eye. Thus, gaining deeper insight into the molecular and cellular mechanisms of efferocytosis may be useful for inflammation resolution. This review describes the mechanism of efferocytosis and wound repair and the roles of professionals (macrophages and dendritic cells) and amateur phagocytes (<em>e.g.</em>, epithelial cells, endothelial cells, and fibroblasts) in both processes, which may provide insight into how efferocytosis affects wound repair. Because there may be many inflammatory cells recruited to the injury area, the aim of efferocytosis is to clear these cells and release proinflammatory and anti-inflammatory mediators to promote repair. Here, we review the effects of cell-mediated efferocytosis on the timely efferocytosis of neutrophils and M1 macrophages and the relationship between M2 polarization and efferocytosis. In addition, the molecular mechanisms involved are discussed, which may further our understanding of the effects of efferocytosis. Finally, these signals also provide potential targets for tissue repair intervention.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"13 3","pages":"Article 101937"},"PeriodicalIF":9.4,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146024252","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

Rare variants in NRSN2 cause non-syndromic orofacial cleft through dysregulation of TGF-β signaling NRSN2的罕见变异通过TGF-β信号的失调导致非综合征性口面裂

IF 9.4 2区医学

Genes & Diseases Pub Date : 2026-05-01 Epub Date: 2025-09-23 DOI: 10.1016/j.gendis.2025.101865

Xiaowen Zheng , Xuqin Liang , Xiantao Wu , Qing He , Chunyan Yin , Yuhua Jiao , Yanhao Wang , Yuxia Hou , Yi Ding , Huaxiang Zhao

引用次数: 0

Diverse functional roles of miR-128-3p in human diseases: Focus on its roles in human cancer miR-128-3p在人类疾病中的多种功能作用：重点关注其在人类癌症中的作用

IF 9.4 2区医学

Genes & Diseases Pub Date : 2026-05-01 Epub Date: 2025-06-26 DOI: 10.1016/j.gendis.2025.101736

Lingzi Zheng , Sheng Yan , Jinling Zhang , Weisen Ning , Xiaoliu Liu , Xiaomei Wang , Ling Hu

{"title":"Diverse functional roles of miR-128-3p in human diseases: Focus on its roles in human cancer","authors":"Lingzi Zheng , Sheng Yan , Jinling Zhang , Weisen Ning , Xiaoliu Liu , Xiaomei Wang , Ling Hu","doi":"10.1016/j.gendis.2025.101736","DOIUrl":"10.1016/j.gendis.2025.101736","url":null,"abstract":"<div><div>The microRNA known as miR-128-3p demonstrates widespread tissue-specific expression with its genetic locus situated on human chromosome 2 (2q21.3), and is a multifunctional regulator with tissue-specific expression patterns that critically influences cellular homeostasis and disease pathogenesis. By engaging with the 3′ untranslated region (3′ UTR) of target mRNA molecules, miR-128-3p exquisitely modulates gene expression levels, thereby orchestrating cellular proliferation, immune responses, metabolic equilibrium, and tumorigenesis. Studies on miR-128-3p in different cancers have revealed diverse expression patterns and functional roles. Intriguingly, due to its ability to target multiple genes and signaling pathways, as well as being regulated by various genes themselves, miR-128-3p exhibits both tumor-suppressive and oncogenic effects under neoplastic conditions. This review summarizes the expression patterns and complex regulatory mechanisms of miR-128-3p across various cancers. A profound understanding of the significance and regulation of miR-128-3p in cancer will drive the development of innovative therapeutic strategies using this molecule for combating human cancer and immune-related disorders.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"13 3","pages":"Article 101736"},"PeriodicalIF":9.4,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146074387","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

Compound heterozygous mutations in BBS7 cause kidney abnormalities in Bardet-Biedl syndrome BBS7复合杂合突变导致Bardet-Biedl综合征肾脏异常

IF 9.4 2区医学

Genes & Diseases Pub Date : 2026-05-01 Epub Date: 2025-08-07 DOI: 10.1016/j.gendis.2025.101792

Jie Min , Rong Xiao , Qian Fu , Yue Huang , Hui Wang

引用次数: 0