Genes & Diseases最新文献_第4页

Transfer RNA-derived small RNAs (tsRNAs): A rising star in liquid biopsy 转移rna衍生的小rna (tsrna)：液体活检中的新星

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-03-19 DOI: 10.1016/j.gendis.2025.101608

Qinglin Wang , Zehao Pan , Si Liang , Yuanjian Shi , Gaochao Dong , Lin Xu , Qixing Mao , Feng Jiang

引用次数: 0

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-03-19 DOI: 10.1016/j.gendis.2025.101606

Amin Ullah , Rajeev K. Singla , Dan Cao , Boyang Chen , Bairong Shen

{"title":"Age-related and postmenopausal breast cancer progression and treatment management: The significance of pro-inflammatory cytokines and CXC chemokines","authors":"Amin Ullah , Rajeev K. Singla , Dan Cao , Boyang Chen , Bairong Shen","doi":"10.1016/j.gendis.2025.101606","DOIUrl":"10.1016/j.gendis.2025.101606","url":null,"abstract":"<div><div>Older age is one of the leading risk indicators for advanced breast cancer. It is critical to extensively investigate how aging affects breast cancer, considering the increasing rate of population aging. Human body aging and death are caused by cellular senescence and alterations in the aging microenvironment <em>in vivo</em>. Breast cancer cells may invade more easily with age due to the stiff extracellular matrix of the breast. Furthermore, growing evidence suggests that the massive release of inflammatory immune mediators, such as cytokines (interleukins) or CXC chemokines (CXCs), and their receptors (CXCRs), including interleukin (IL)-6, IL-8/CXCL8, tumor necrosis factor (TNF), interferon (INF), transforming growth factor (TGF), CXCL1, CXCL9, CXCL10, CXCL11/CXCR3, and CXCL12/CXCR4, plays a critical role in the development of breast cancer in elderly patients. Researchers are particularly interested in obesity-induced inflammation because it has been shown to raise the risk of breast cancer in postmenopausal women with higher body mass index. Obesity-triggered inflammation causes increased infiltration of proinflammatory cytokines, adipokines, immune cells, and tumor cells in the enlarged adipose tissue of postmenopausal women with breast cancer, thereby modulating the tumor's immune-mediated microenvironment. Therefore, in this review, we focus on the functional significance studies of proinflammatory cytokines, CXCs, and CXCRs and describe their roles in influencing breast cancer progression in older women and their factors, such as obesity in postmenopausal women. In addition, the current status and prospects of cytokine- and CXC-based theranostic interventions for breast cancer therapy in elderly and postmenopausal women are discussed.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 5","pages":"Article 101606"},"PeriodicalIF":6.9,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144279920","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

Circular RNAs in hepatitis B virus-induced hepatocellular carcinoma: A comprehensive review and recent advances 环状rna在乙型肝炎病毒诱导的肝细胞癌中的作用：综述和最新进展

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-03-18 DOI: 10.1016/j.gendis.2025.101605

Wenjun Quan , Kizito Eneye Bello , Rafidah Hanim Shueb , Nazri Mustaffa

引用次数: 0

Haplotype-resolved assemblies of the MHC region in five widely used tumor cell lines 五种广泛应用的肿瘤细胞系中MHC区域的单倍型分解组装

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-03-18 DOI: 10.1016/j.gendis.2025.101603

Haozhe Yuan , Mengping Jiang , Xingyu Xu , Jialiang Zhu , Shulong Dong , Weida Meng , Dandan Zhang , Jiakang Ma , Yicheng Lin , Ziqiang Chen , Shaoyang Sun , Wenqing Qiu , Yun Liu

{"title":"Haplotype-resolved assemblies of the MHC region in five widely used tumor cell lines","authors":"Haozhe Yuan , Mengping Jiang , Xingyu Xu , Jialiang Zhu , Shulong Dong , Weida Meng , Dandan Zhang , Jiakang Ma , Yicheng Lin , Ziqiang Chen , Shaoyang Sun , Wenqing Qiu , Yun Liu","doi":"10.1016/j.gendis.2025.101603","DOIUrl":"10.1016/j.gendis.2025.101603","url":null,"abstract":"<div><div>The major histocompatibility complex (MHC) region plays a crucial role in immune function and is implicated in various diseases and cancer immunoediting. However, its high polymorphism poses challenges for accurate genetic profiling using conventional reference genomes. Here, we present high-quality, haplotype-resolved assemblies of the MHC region in five widely used tumor cell lines: A549, HeLa, HepG2, K562, and U2OS. Numerous oncological studies extensively employ these cell lines, ranging from basic molecular research to drug discovery and personalized medicine approaches. By integrating CRISPR-based targeted enrichment with 10 × Genomics linked-read and PacBio HiFi long-read sequencing, we constructed MHC haplotypes for each cell line, providing a valuable resource for the research community. Using these assembled haplotypes as references, we characterize the aneuploidy of the MHC region in these cell lines, offering insights into the genetic landscape of this critical immunological locus. Our work addresses the urgent need for accurate MHC profiling in these widely used cell line models, enabling more precise interpretation of existing and future genomic and epigenomic data. This resource is expected to significantly enhance our understanding of tumor biology, immune responses, and the development of targeted therapies.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 5","pages":"Article 101603"},"PeriodicalIF":6.9,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144297399","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

Amylin exacerbates tau pathology in the visual cortex of diabetic mice by impairing lysosomal activity 胰淀素通过损害溶酶体活性加剧了糖尿病小鼠视觉皮层的tau病理

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-03-18 DOI: 10.1016/j.gendis.2025.101602

Daniel Moreira-Silva , Melike Yuksel , Moorthi Ponnusamy , Mitchell T. Hansen , Joseph D. McMillan , Sneha Geethakrishnan , Shuai Wang , Lisa A. Collier , Gopal Thinakaran

{"title":"Amylin exacerbates tau pathology in the visual cortex of diabetic mice by impairing lysosomal activity","authors":"Daniel Moreira-Silva , Melike Yuksel , Moorthi Ponnusamy , Mitchell T. Hansen , Joseph D. McMillan , Sneha Geethakrishnan , Shuai Wang , Lisa A. Collier , Gopal Thinakaran","doi":"10.1016/j.gendis.2025.101602","DOIUrl":"10.1016/j.gendis.2025.101602","url":null,"abstract":"<div><div>The aggregation of the peptide hormone amylin in the pancreas is a pathological hallmark of type-2 diabetes. Additionally, amylin can form aggregates in the brain, promoting β-amyloid deposition and tau phosphorylation in Alzheimer's disease. The cross-seeding between amylin and tau exacerbates tau pathology spread and synaptic loss, leading to neurodegeneration and cognitive deficits. Given the link between lysosomal dysfunction and tauopathy in the brain and amylin aggregation in the pancreas, we hypothesized that amylin could potentially worsen tau pathology in diabetic mice. We administered streptozotocin and/or amylin peripherally to the PS19 model of tauopathy at 3 months and characterized them at 6 months of age. We found that streptozotocin diminished body weight gain, increased blood glucose levels, worsened motor performance, and improved fear-conditioned memory in PS19 mice. Both amylin and streptozotocin administration prompted the emergence of tau pathology in the pancreas, which coincided with a decrease in the number of lysosomes in pancreatic islets. Mice treated with amylin and streptozotocin also developed robust tau pathology concomitant with lowering lysosomal cathepsin D levels in the visual cortex. These findings suggest that in diabetic mice, amylin administration diminished pancreatic lysosomes, possibly increasing the number of amylin aggregates that reached the brain and contributing to the worsening of tau pathology due to lysosomal impairment in the visual cortex. The outcome of our research enhances the understanding of the cellular pathways by which amylin may serve as a link between the pancreas-brain axis during diabetes, influencing the risk of developing tau pathology.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 5","pages":"Article 101602"},"PeriodicalIF":6.9,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144322051","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

Chlorpyrifos induces spermatogenic dysfunction via ferroptosis in Sertoli cells 毒死蜱通过支持细胞的铁下垂诱导生精功能障碍

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-03-14 DOI: 10.1016/j.gendis.2025.101601

Yan Fu , Xu Huang , Siyuan Wang , Qitong Guo , Yuhao Wu , Xiangqin Zheng , Junke Wang , Shengde Wu , Lianju Shen , Guanghui Wei

{"title":"Chlorpyrifos induces spermatogenic dysfunction via ferroptosis in Sertoli cells","authors":"Yan Fu , Xu Huang , Siyuan Wang , Qitong Guo , Yuhao Wu , Xiangqin Zheng , Junke Wang , Shengde Wu , Lianju Shen , Guanghui Wei","doi":"10.1016/j.gendis.2025.101601","DOIUrl":"10.1016/j.gendis.2025.101601","url":null,"abstract":"<div><div>Chlorpyrifos (CPF), a widely used organophosphate pesticide, accumulates in the environment and affects human health. Its neurotoxicity has been extensively studied, and recent research has revealed that it can also lead to abnormal spermatogenesis. However, the factors and molecular mechanisms involved remain unclear. In this study, male Sprague–Dawley rats were gavaged with different concentrations of CPF for 30 days, resulting in a disrupted blood-testis barrier (BTB) and abnormal spermatogenesis. RNA sequencing analysis of Sertoli cells, the primary components of the BTB and key targets of environmental toxins, revealed that ferroptosis-related genes were predominantly among the differentially expressed genes. The expression of ferroptosis-related markers was up-regulated, malondialdehyde and Fe<sup>2+</sup> levels were elevated, and glutathione levels were reduced in CPF-exposed testicular tissue and its metabolite TCP-exposed Sertoli cells, confirming that CPF exposure triggered ferroptosis in testes and Sertoli cells. Moreover, treatment with ferrostatin-1, a ferroptosis inhibitor, restored Sertoli cell junctional function. Given the important roles of clockophagy and the HIF-1α pathway in ferroptosis, we investigated the activity of clockophagy in testes and Sertoli cells. Unexpectedly, clockophagy activity was found to be enhanced by the significantly reduced expression levels of ARNTL and HIF-1α following CPF and TCP exposure. Notably, <em>Arntl</em> knockdown impaired Sertoli cell junctional function. Collectively, these findings strongly indicate that CPF induces ferroptosis in Sertoli cells through activating clockophagy, resulting in the decreased expression of HIF-1α and BTB-associated proteins; this ultimately leads to the disruption of BTB integrity and spermatogenesis dysfunction.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 5","pages":"Article 101601"},"PeriodicalIF":6.9,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144366327","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

NKAPL suppresses NSCLC progression by enhancing the protein stability of TRIM21 and further inhibiting the NF-κB signaling pathway NKAPL通过增强TRIM21蛋白稳定性和进一步抑制NF-κB信号通路抑制NSCLC进展

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-03-11 DOI: 10.1016/j.gendis.2025.101598

Chunhong Li , Qiang Wang , Fengsheng Dai , Xinni Xiang , Lin Yi , Bianfei Shao , Qian Li , Xi Peng , Renyan Li , Fang Luo , Zhongjun Wu , Tingxiu Xiang

{"title":"NKAPL suppresses NSCLC progression by enhancing the protein stability of TRIM21 and further inhibiting the NF-κB signaling pathway","authors":"Chunhong Li , Qiang Wang , Fengsheng Dai , Xinni Xiang , Lin Yi , Bianfei Shao , Qian Li , Xi Peng , Renyan Li , Fang Luo , Zhongjun Wu , Tingxiu Xiang","doi":"10.1016/j.gendis.2025.101598","DOIUrl":"10.1016/j.gendis.2025.101598","url":null,"abstract":"<div><div>Non-small cell lung cancer (NSCLC) remains a leading cause of mortality in the clinic. Previous studies have demonstrated that the NF-kappa-B activating protein like (NKAPL) is positively correlated with prognosis in several types of cancers. However, the role of NKAPL in the progression of NSCLC remains unclear. The expression and promoter methylation of NKAPL were examined by real-time PCR, quantitative PCR, and methylation-specific PCR. The functional impacts of NKAPL on NSCLC proliferation were explored by CCK8 assay and colony formation assay. Transwell assay was conducted to investigate the role of NKAPL in NSCLC cell migration and invasion, and the influence on metastasis was verified <em>in vivo</em>. Flow cytometry was exploited to analyze the influence on the cell cycle and apoptosis. The regulatory mechanism of NKAPL was investigated by immunoprecipitation-mass spectrometry, western blotting, immunofluorescence, and immunohistochemistry. NKAPL was down-regulated due to promoter methylation, which was associated with poor prognosis in NSCLC patients, while the up-regulation of NKAPL suppressed NSCLC cell proliferation and metastasis both <em>in vitro</em> and <em>in vivo</em>. Mechanistically, the NF-κB signaling pathway was inhibited because the up-regulation of NKAPL increased the stability and expression of TRIM21. NKAPL suppressed NSCLC cell proliferation and metastasis both <em>in vitro</em> and <em>in vivo</em> by increasing the stability and expression of TRIM21 and subsequently inhibiting the NF-κB signaling pathway.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 5","pages":"Article 101598"},"PeriodicalIF":6.9,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144321992","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

Investigation of long-term epigenetic changes in the Nr3c1 gene by neonatal valproate exposure in juvenile rats 幼鼠丙戊酸暴露对Nr3c1基因长期表观遗传变化的研究

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-03-08 DOI: 10.1016/j.gendis.2025.101588

Eun Hye Jang, Soon Ae Kim

引用次数: 0

Otof gene transfer in DFNB9 mice carrying human founder non-truncating alleles 携带人类创始人非截断等位基因的DFNB9小鼠的Otof基因转移

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-03-06 DOI: 10.1016/j.gendis.2025.101590

Yehree Kim , Yoojin Chung , Ju Ang Kim , Kyu Hee Han , Kwon Woo Kang , Ngoc-Trinh Tran , Min Young Kim , Eunyoung Yi , Sangyong Jung , Bong Jik Kim , Quynh-Anh Artinian , Seth D. Koehler , Ning Pan , Tyler M. Gibson , Lars Becker , Joseph W. Goodliffe , Molly Kalker , Madeline Barnes , Luke A. Shaheen , Meghan C. Drummond , Byung Yoon Choi

引用次数: 0

Corrigendum to “Monogenic deficiency in murine intestinal Cdc42 leads to mucosal inflammation that induces crypt dysplasia” [Genes & Dis 11 (2024) 413–429] “小鼠肠道Cdc42单基因缺陷导致黏膜炎症，诱发隐窝发育不良”的勘误表[基因与疾病11 (2024)413-429]

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-03-04 DOI: 10.1016/j.gendis.2025.101579

Dongsheng Zhang , Wenjuan Tang , Haitao Niu , William Tse , Hai-Bin Ruan , Helmut Dolznig , Thomas Knösel , Friedrich KarlHeinz , Madeleine Themanns , Jiang Wang , Mingquan Song , Lee Denson , Lukas Kenner , Richard Moriggl , Yi Zheng , Xiaonan Han

引用次数: 0