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Population-based screening of CYP17A1 Y329fs mutation carriers in the Han Chinese population 汉族人群CYP17A1 Y329fs突变携带者的人群筛查
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2025-04-15 DOI: 10.1016/j.gendis.2025.101647
Bing Han , Xiaoxi Zhang , Chang Liu , Hui Zhu , Wenjiao Zhu , Yue Xu , Fengxue Zhang , Kaiwen Zhang , Shuhua Xu , Jie Qiao
{"title":"Population-based screening of CYP17A1 Y329fs mutation carriers in the Han Chinese population","authors":"Bing Han , Xiaoxi Zhang , Chang Liu , Hui Zhu , Wenjiao Zhu , Yue Xu , Fengxue Zhang , Kaiwen Zhang , Shuhua Xu , Jie Qiao","doi":"10.1016/j.gendis.2025.101647","DOIUrl":"10.1016/j.gendis.2025.101647","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 6","pages":"Article 101647"},"PeriodicalIF":6.9,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144597076","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 variant of TFAP2A in a familial case of branchio-oculo-facial syndrome: Insights from structural bioinformatics and molecular dynamics simulation 家族性鳃裂-眼-面部综合征病例中一种新的TFAP2A变异：来自结构生物信息学和分子动力学模拟的见解
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2025-04-15 DOI: 10.1016/j.gendis.2025.101641
Jingjing Zhao , Nuo Si , Ningbei Yin , Tao Song
{"title":"A novel variant of TFAP2A in a familial case of branchio-oculo-facial syndrome: Insights from structural bioinformatics and molecular dynamics simulation","authors":"Jingjing Zhao , Nuo Si , Ningbei Yin , Tao Song","doi":"10.1016/j.gendis.2025.101641","DOIUrl":"10.1016/j.gendis.2025.101641","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 6","pages":"Article 101641"},"PeriodicalIF":6.9,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144634460","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 method for the detection of Cas9 gRNAs using a fluorophore-labeled DNA oligo 一种利用荧光团标记DNA寡核苷酸检测Cas9 gRNAs的新方法
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2025-04-14 DOI: 10.1016/j.gendis.2025.101636
Ranmal Avinash Bandara , Zhichang Peter Zhou , Ziyan Rachel Chen , Rongqi Duan , Alan Richard Davidson , Amy P. Wong , Jim Hu
{"title":"A novel method for the detection of Cas9 gRNAs using a fluorophore-labeled DNA oligo","authors":"Ranmal Avinash Bandara , Zhichang Peter Zhou , Ziyan Rachel Chen , Rongqi Duan , Alan Richard Davidson , Amy P. Wong , Jim Hu","doi":"10.1016/j.gendis.2025.101636","DOIUrl":"10.1016/j.gendis.2025.101636","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 6","pages":"Article 101636"},"PeriodicalIF":6.9,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144548914","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
Bone marrow mesenchymal stroma cell serves as a harbor anchoring acute B lymphoblastic leukemia cells 骨髓间充质间质细胞是急性B淋巴细胞白血病细胞的停泊港
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2025-04-12 DOI: 10.1016/j.gendis.2025.101637
Kunpeng Wu , Fen Wang , Min Shen , Xiaohui Liang , Dan Wei , Xi Zhu , Ying Qu , Xunbin Wei , Hua Jiang , Tong Chen
{"title":"Bone marrow mesenchymal stroma cell serves as a harbor anchoring acute B lymphoblastic leukemia cells","authors":"Kunpeng Wu , Fen Wang , Min Shen , Xiaohui Liang , Dan Wei , Xi Zhu , Ying Qu , Xunbin Wei , Hua Jiang , Tong Chen","doi":"10.1016/j.gendis.2025.101637","DOIUrl":"10.1016/j.gendis.2025.101637","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 6","pages":"Article 101637"},"PeriodicalIF":6.9,"publicationDate":"2025-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144548638","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
Exploring the role of migrasomes in myocardial injury and repair: A novel mechanism of mitochondrial quality control 探讨偏头痛在心肌损伤和修复中的作用：线粒体质量控制的新机制
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2025-04-11 DOI: 10.1016/j.gendis.2025.101639
Chunnian Ren , Dawei He , Shulei Fan , Quan Wang
{"title":"Exploring the role of migrasomes in myocardial injury and repair: A novel mechanism of mitochondrial quality control","authors":"Chunnian Ren , Dawei He , Shulei Fan , Quan Wang","doi":"10.1016/j.gendis.2025.101639","DOIUrl":"10.1016/j.gendis.2025.101639","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 6","pages":"Article 101639"},"PeriodicalIF":6.9,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144548912","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 targeting of AKR1C1 synergizes with gefitinib via the STAT3 signaling pathway in EGFR-mutated NSCLC 在egfr突变的NSCLC中，靶向AKR1C1通过STAT3信号通路与吉非替尼协同作用
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2025-04-10 DOI: 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}
引用次数: 0
In vivo adeno-associated virus-mediated LDLR/PCSK9 intervention for familial hypercholesterolemia 体内腺相关病毒介导的LDLR/PCSK9干预家族性高胆固醇血症
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2025-04-10 DOI: 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}
引用次数: 0
Glial subtype-specific modulation of disease pathogenesis in Drosophila models of ALS 肌萎缩侧索硬化症果蝇模型中神经胶质亚型特异性疾病发病机制的调节
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2025-04-08 DOI: 10.1016/j.gendis.2025.101631
Yanan Wei , Hayong Rhee , Hadi Najafi , Shane Blair , Nam Chul Kim , Woo Jae Kim
{"title":"Glial subtype-specific modulation of disease pathogenesis in Drosophila models of ALS","authors":"Yanan Wei , Hayong Rhee , Hadi Najafi , Shane Blair , Nam Chul Kim , Woo Jae Kim","doi":"10.1016/j.gendis.2025.101631","DOIUrl":"10.1016/j.gendis.2025.101631","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 5","pages":"Article 101631"},"PeriodicalIF":6.9,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144185657","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
Single-cell sequencing reveals the expansion and diversity of T cell subsets in the bone marrow microenvironment of chronic myeloid leukemia 单细胞测序揭示了慢性髓性白血病骨髓微环境中T细胞亚群的扩增和多样性
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2025-04-04 DOI: 10.1016/j.gendis.2025.101626
Chenjian Zhuo , Xin Dong , Xueya Zhao , Weiru Wu , Hao Zhou , Jing Feng , Lingbo Liu , Mingqian Feng , Chunjiang He , Yu Hou
{"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 ,&nbsp;Xin Dong ,&nbsp;Xueya Zhao ,&nbsp;Weiru Wu ,&nbsp;Hao Zhou ,&nbsp;Jing Feng ,&nbsp;Lingbo Liu ,&nbsp;Mingqian Feng ,&nbsp;Chunjiang He ,&nbsp;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}
引用次数: 0
Multi-omics approach reveals gene co-alterations and survival benefit in ovarian cancer patients under platinum-based adjuvant therapy 多组学方法揭示了铂类辅助治疗下卵巢癌患者的基因共改变和生存益处
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2025-04-04 DOI: 10.1016/j.gendis.2025.101628
Ning Ding , Jiahui Chen , Xiaotian Zhao , Minyi Zhu , Qiuxiang Ou , Jiaohui Pang , Luxi Ruan , Ying Zhang , Wei Sun , Xiaoxiang Chen
{"title":"Multi-omics approach reveals gene co-alterations and survival benefit in ovarian cancer patients under platinum-based adjuvant therapy","authors":"Ning Ding ,&nbsp;Jiahui Chen ,&nbsp;Xiaotian Zhao ,&nbsp;Minyi Zhu ,&nbsp;Qiuxiang Ou ,&nbsp;Jiaohui Pang ,&nbsp;Luxi Ruan ,&nbsp;Ying Zhang ,&nbsp;Wei Sun ,&nbsp;Xiaoxiang Chen","doi":"10.1016/j.gendis.2025.101628","DOIUrl":"10.1016/j.gendis.2025.101628","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 6","pages":"Article 101628"},"PeriodicalIF":6.9,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144548915","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
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