Genes & DiseasesPub Date : 2025-04-11DOI: 10.1016/j.gendis.2025.101620
Yongyu Chen , Xue Qiu , Jiehua Deng , Jianchao Ma , Jiansheng Huang , Yequan Lu , Ruilin He , Bin Liang
{"title":"Bioinformatic validation and machine learning based exploration of B cells-related gene signatures in the context of strategies for precision therapy to acute myeloid leukemia","authors":"Yongyu Chen , Xue Qiu , Jiehua Deng , Jianchao Ma , Jiansheng Huang , Yequan Lu , Ruilin He , Bin Liang","doi":"10.1016/j.gendis.2025.101620","DOIUrl":"10.1016/j.gendis.2025.101620","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"13 1","pages":"Article 101620"},"PeriodicalIF":9.4,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145026671","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 : 2025-04-11DOI: 10.1016/j.gendis.2025.101634
Yalan Lu , Xiaokang Lei , Yanfeng Xu , Yanhong Li , Ruolin Wang , Siyuan Wang , Aiwen Wu , Chuan Qin
{"title":"Advancing cancer research: Cutting-edge insights from colorectal cancer patient-derived xenograft mouse models","authors":"Yalan Lu , Xiaokang Lei , Yanfeng Xu , Yanhong Li , Ruolin Wang , Siyuan Wang , Aiwen Wu , Chuan Qin","doi":"10.1016/j.gendis.2025.101634","DOIUrl":"10.1016/j.gendis.2025.101634","url":null,"abstract":"<div><div>Colorectal cancer is the third most common malignant tumor globally. The current clinical therapeutic outcome is often jeopardized by the complex pathological process that is highly heterogenous among individual patients. It becomes increasingly critical for successful treatments to have diverse valid therapeutic options in clinic, which urgently demands efficient preclinical animal model to develop new drug and screen effective and safe clinical interventions. Patient-derived xenograft (PDX) mouse models, created by implanting fresh tumor tissue into immunodeficient or humanized mice, serve as a crucial resource in translational cancer research. These models closely replicate the tissue, cellular, and genetic characteristics of the original tumors, supporting their use in precision medicine, drug discovery, biomarker research, and studies of drug resistance. However, repeated transplantation can introduce genomic instability, molecular shifts, and phenotype variability. This article explores the development, advantages, limitations, and future directions of PDX models in preclinical cancer research.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"13 1","pages":"Article 101634"},"PeriodicalIF":9.4,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145267998","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 : 2025-04-10DOI: 10.1016/j.gendis.2025.101633
Linlin Chang , Shuzhen Wei , Xiaotian Qi , Yang Gao , Jinhua Chen , Yu Cui , Pengxing He , Wenzhou Zhang
{"title":"The targeting of AKR1C1 synergizes with gefitinib via the STAT3 signaling pathway in EGFR-mutated NSCLC","authors":"Linlin Chang , Shuzhen Wei , Xiaotian Qi , Yang Gao , Jinhua Chen , Yu Cui , Pengxing He , Wenzhou Zhang","doi":"10.1016/j.gendis.2025.101633","DOIUrl":"10.1016/j.gendis.2025.101633","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 6","pages":"Article 101633"},"PeriodicalIF":6.9,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144556680","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 : 2025-04-10DOI: 10.1016/j.gendis.2025.101632
Zeyu Han , Cheng Tan , Jianzhong Ai , Ye Zhu
{"title":"In vivo adeno-associated virus-mediated LDLR/PCSK9 intervention for familial hypercholesterolemia","authors":"Zeyu Han , Cheng Tan , Jianzhong Ai , Ye Zhu","doi":"10.1016/j.gendis.2025.101632","DOIUrl":"10.1016/j.gendis.2025.101632","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 6","pages":"Article 101632"},"PeriodicalIF":6.9,"publicationDate":"2025-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144634459","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}
{"title":"Single-cell sequencing reveals the expansion and diversity of T cell subsets in the bone marrow microenvironment of chronic myeloid leukemia","authors":"Chenjian Zhuo , Xin Dong , Xueya Zhao , Weiru Wu , Hao Zhou , Jing Feng , Lingbo Liu , Mingqian Feng , Chunjiang He , Yu Hou","doi":"10.1016/j.gendis.2025.101626","DOIUrl":"10.1016/j.gendis.2025.101626","url":null,"abstract":"<div><div>The immune microenvironment plays an important role in leukemia treatment. However, a specific single-cell profiling of the immune alteration in bone marrow of chronic myeloid leukemia (CML) patients is still lacking. We performed multi-level single-cell sequencing to systematically decipher the bone marrow T cell atlas of CML patients. The results exhibited extensive changes of T cells, including the decreased CD4 T cells and increased CD8 T cells in the CML bone marrow. Subpopulation analysis revealed a significant increase of CD8 terminal effector (TE) cells and a significant decrease of CD4 naïve T cells. T cell receptor sequencing showed that the overall diversity of the T cell receptor repertoire was reduced in CML, with the exception of the CD8 TE cell. In addition, CD8 TE cells were the main source of gene expression differences in CD8 T cells. Intercellular communication analysis revealed the altered interaction between CD8 TE and other non-T cells in CML, including neutrophil subtype, indicating the potential regulation of bone marrow microenvironment cells on CD8 TE dynamics. Collectively, our work characterises the alteration of T cell subsets in CML patients at multiple single-cell levels, providing a valuable resource for understanding the immune microenvironment and developing new immune strategies for CML therapy.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 5","pages":"Article 101626"},"PeriodicalIF":6.9,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144331138","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 : 2025-04-03DOI: 10.1016/j.gendis.2025.101622
Longmin Chen , Yuan Zou , Yan Dong , Tian Hong , Qianqian Xu , Jing Zhang
{"title":"Emerging role of SETD2 in the development and function of immune cells","authors":"Longmin Chen , Yuan Zou , Yan Dong , Tian Hong , Qianqian Xu , Jing Zhang","doi":"10.1016/j.gendis.2025.101622","DOIUrl":"10.1016/j.gendis.2025.101622","url":null,"abstract":"<div><div>SET domain-containing 2 (SETD2) is a methyltransferase that catalyzes trimethylation of lysine 36 on H3 (H3K36me3) in mammals, an epigenetic mark associated with actively transcribed regions. SETD2 is implicated in multiple chromatin biological processes, such as alternative splicing, transcriptional regulation, DNA damage repair, and maintenance of genomic integrity. Extensive studies have demonstrated that <em>SETD2</em>-inactivating mutations and resultant dysregulation of these functions may result in tumorigenesis. However, the role of SETD2 in the development and function of immune cells receives relatively limited attention. In this review, we seek to summarize current knowledge of the biological function and underlying mechanisms of SETD2 and highlight its important role in immune cell biology. By influencing the biological processes of immune cells, SETD2 participates in the pathogenesis of immune-related diseases, including infection, cancers, autoimmune diseases, and inflammatory diseases. Finally, we discuss challenges and prospects for targeting SETD2 in immune cells to provide guidance for treating those diseases in clinical practice.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 6","pages":"Article 101622"},"PeriodicalIF":6.9,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144704368","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 : 2025-04-02DOI: 10.1016/j.gendis.2025.101621
Weixuan Wang , Dan Ma , Yong Chen , Rui Cheng , Ting Zhang , Qian Ge , Xi Li
{"title":"miR-146b/Btg2 axis as a potential inducer of islet beta-cell decline during the progression of obesity to T2DM","authors":"Weixuan Wang , Dan Ma , Yong Chen , Rui Cheng , Ting Zhang , Qian Ge , Xi Li","doi":"10.1016/j.gendis.2025.101621","DOIUrl":"10.1016/j.gendis.2025.101621","url":null,"abstract":"<div><div>We evaluated the potential mechanisms responsible for inducing beta-cell decline during the progression of obesity to type 2 diabetes mellitus (T2DM). Between February 2021 and February 2022, 25 subjects with non-diabetic obesity, 20 subjects with obesity and new-onset T2DM, and 25 healthy volunteers were recruited. Circulating exosome-contained miRNA expression profiling was performed by miRNA sequencing. The role of specific miRNA was analyzed by a gain-of-function approach in Min6 beta-cells, mouse islets, and human islets. Expression of 83 exosomal miRNAs was differently regulated in the circulation of subjects with non-diabetic obesity. We focused on miR-146b, which was mildly up-regulated in non-diabetic obesity and dramatically up-regulated in obese new-onset T2DM. Using an obese diabetic <em>db/db</em> mouse model, we found the expression of miR-146b to be mainly increased in islets. Overexpression of miR-146b in mouse beta-cells, mouse islets, and human islets <em>in vitro</em> facilitated beta-cell apoptosis yet inhibited its proliferation and insulin synthesis, leading to impaired insulin secretion. Eventually, miR-146b directly targeted the B cell translocation gene 2 (<em>Btg2</em>), an antiapoptotic transcriptional factor. Overexpression of <em>Btg2</em> reversed miR-146b-induced apoptosis and -suppressed proliferation in beta-cells. miR-146b that targets <em>Btg2</em> might be a predictive biomarker and an inducer of beta-cell decline.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 5","pages":"Article 101621"},"PeriodicalIF":6.9,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144366249","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}