Genes & Diseases最新文献_第3页

Tnni3k regulates cardiomyopathy and cardiac conduction disease through Nfatc1 signaling

IF 6.9 2区医学

Genes & Diseases Pub Date : 2024-11-13 DOI: 10.1016/j.gendis.2024.101464

Shi Ouyang , Yujuan Niu , Le Liu , Qiaorong Yi , Wuming Qin , Hui Cao , Tao Liao , Rong Xiang , Yonghe Ding , Yun Deng

引用次数: 0

ISG15 regulates auto-inflammation by modulating NF-κB signaling pathway

IF 6.9 2区医学

Genes & Diseases Pub Date : 2024-11-12 DOI: 10.1016/j.gendis.2024.101462

Meiqi Hou , Chao Yuan , Xiaopei Zhou , Zhenxing Liu , Nianyi Sun , Jinze Li , Xianqin Zhang

引用次数: 0

Proteomic profiling of exosomes leads to the identification of a candidate biomarker for prostate cancer progression

IF 6.9 2区医学

Genes & Diseases Pub Date : 2024-11-12 DOI: 10.1016/j.gendis.2024.101463

MyeongHoon Yeon , Ah Reum Lee , Youngbum Yoo , Won-Kyeong Kim , Hyeon-Bin Shin , Hae Un Kook , Soon-Cheol Ahn , Myunggon Ko , Inkyung Jung , Chan Young Park , Young-Kyo Seo

引用次数: 0

Runx2 controls the osteogenic fate of growth plate chondrocytes

IF 6.9 2区医学

Genes & Diseases Pub Date : 2024-11-09 DOI: 10.1016/j.gendis.2024.101453

Daofu Zeng , Jiamin Yu , Ke Lu, Dan Yi, Zhidao Xia, Ling Qin, Guozhi Xiao, Xiao Yang, Liping Tong, Di Chen

引用次数: 0

Unraveling RUNX2 mutation in a cleidocranial dysplasia patient: Molecular insights into osteogenesis and proteostasis

IF 6.9 2区医学

Genes & Diseases Pub Date : 2024-11-06 DOI: 10.1016/j.gendis.2024.101449

Luca Dalle Carbonare , Arianna Minoia , Alberto Gandini , Francesca Cristiana Piritore , Cristina Patuzzo , Lucrezia Ceretti , Anna Vareschi , Antonino Aparo , Mattia Cominacini , Giovanni Malerba , Maria Grazia Romanelli , Joao Pessoa , Daniele Guardavaccaro , Franco Antoniazzi , Maria Teresa Valenti

引用次数: 0

Research progress on the use of traditional Chinese medicine to treat diseases by regulating ferroptosis

IF 6.9 2区医学

Genes & Diseases Pub Date : 2024-11-06 DOI: 10.1016/j.gendis.2024.101451

Shuai Liu , Xianzhen Yang , Sanxia Zheng , Changjing Chen , Lei Qi , Xiangdong Xu , Denglu Zhang

{"title":"Research progress on the use of traditional Chinese medicine to treat diseases by regulating ferroptosis","authors":"Shuai Liu , Xianzhen Yang , Sanxia Zheng , Changjing Chen , Lei Qi , Xiangdong Xu , Denglu Zhang","doi":"10.1016/j.gendis.2024.101451","DOIUrl":"10.1016/j.gendis.2024.101451","url":null,"abstract":"<div><div>Ferroptosis is an emerging form of programmed cell death triggered by iron-dependent lipid peroxidation. It is distinguished from other forms of cell death by its unique morphological changes and characteristic fine-tuned regulatory gene network. Since its pivotal involvement in the pathogenesis and therapeutic interventions of various diseases, such as malignant tumors, cardiovascular and cerebrovascular diseases, and traumatic disorders, has been well-established, ferroptosis has garnered significant attention in contemporary physiological and pathological research. For the advantage of alleviating the clinical symptoms and improving life quality, traditional Chinese medicine (TCM) holds a significant position in the treatment of these ailments. Moreover, increasing studies revealed that TCM compounds and monomers showed evident therapeutic efficacy by regulating ferroptosis via signaling pathways that tightly regulate redox reactions, iron ion homeostasis, lipid peroxidation, and glutathione metabolism. In this paper, we summarized the current knowledge of TCM compounds and monomers in regulating ferroptosis, aiming to provide a comprehensive review of disease management by TCM decoction, Chinese patent medicine, and natural products deriving from TCM through ferroptosis modulation. The formulation composition, chemical structure, and possible targets or mechanisms presented here offer valuable insights into the advancement of TCM exploration.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 3","pages":"Article 101451"},"PeriodicalIF":6.9,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143464630","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}

引用次数: 0

Preclinical ex vivo IL2RG gene therapy using autologous hematopoietic stem cells as an effective and safe treatment for X-linked severe combined immunodeficiency disease

IF 6.9 2区医学

Genes & Diseases Pub Date : 2024-11-06 DOI: 10.1016/j.gendis.2024.101445

Mingfeng Hu , Qiling Xu , Fang Zhang , Karen F. Buckland , Yelei Gao , Weixia Du , Yuan Ding , Lina Zhou , Xiulian Sun , Lijia Ma , Zhiyong Zhang , Xuemei Tang , Xiaodong Zhao , Adrian J. Thrasher , Yunfei An

{"title":"Preclinical ex vivo IL2RG gene therapy using autologous hematopoietic stem cells as an effective and safe treatment for X-linked severe combined immunodeficiency disease","authors":"Mingfeng Hu , Qiling Xu , Fang Zhang , Karen F. Buckland , Yelei Gao , Weixia Du , Yuan Ding , Lina Zhou , Xiulian Sun , Lijia Ma , Zhiyong Zhang , Xuemei Tang , Xiaodong Zhao , Adrian J. Thrasher , Yunfei An","doi":"10.1016/j.gendis.2024.101445","DOIUrl":"10.1016/j.gendis.2024.101445","url":null,"abstract":"<div><div>X-linked severe combined immunodeficiency disease (X-SCID) is a rare inherited disease caused by mutations in the interleukin 2 receptor subunit gamma gene (<em>IL2RG</em>), which encodes the common γ chain protein, a subunit of the receptor for lymphocytes. X-SCID is characterized by profound defects in T-cell, B-cell, and natural killer cell function. Here, we report a Chinese cohort of nine X-SCID patients with six novel <em>IL2RG</em> mutations. Among those, the two adolescent patients with an atypical immunotype were confirmed by further analyzing IL-2-JAK-STAT5 signaling, T cell proliferation, and T cell receptor excision circles (Trecs). Interestingly, Bacillus Calmette-Guérin (BCG) disease occurred commonly in this cohort. Although allogeneic hematopoietic stem-cell transplantation is curative for the disease, it is not available to all patients due to the lack of suitable matched donors. Autologous gene therapy using a self-inactivating lentiviral vector (SIN-LV) technology has provided an alternative therapy for such mono-genetic diseases. Here, we performed the pre-clinical studies to assess our SIN-LV carrying <em>IL2RG</em> on human ED7R cells deficient in <em>IL2RG</em> and CD34<sup>+</sup> stem cells derived from the bone marrow of a healthy donor and a patient with X-SCID. This work is done complied with the established “Good Manufacturing Practice” (GMP) used in the clinical trials. In addition, a safety study is performed using the transduced CD34<sup>+</sup> cells implanted into the axilla of nude mice <em>in vivo</em>. Overall, our studies have demonstrated the efficiency and safety of SIN-IL2RG-LV, which paves the way for conducting X-SCID gene therapy clinical trials in China in the near future.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 3","pages":"Article 101445"},"PeriodicalIF":6.9,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143478554","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}

引用次数: 0

The genomic and epigenomic landscape of iridocorneal endothelial syndrome

IF 6.9 2区医学

Genes & Diseases Pub Date : 2024-11-06 DOI: 10.1016/j.gendis.2024.101448

Yaoming Liu , Gen Li , Jiaxuan Jiang , Sujie Fan , Lan Lu , Ting Wang , Guigang Li , Wenzong Zhou , Xuequn Liu , Yingjie Li , Hong Sun , Liang Liang , Yuhong Tang , Yang Chen , Jianjun Gu , Fei Li , Xiuli Fang , Tao Sun , Aiguo Lv , Yayi Wang , Xiulan Zhang

{"title":"The genomic and epigenomic landscape of iridocorneal endothelial syndrome","authors":"Yaoming Liu , Gen Li , Jiaxuan Jiang , Sujie Fan , Lan Lu , Ting Wang , Guigang Li , Wenzong Zhou , Xuequn Liu , Yingjie Li , Hong Sun , Liang Liang , Yuhong Tang , Yang Chen , Jianjun Gu , Fei Li , Xiuli Fang , Tao Sun , Aiguo Lv , Yayi Wang , Xiulan Zhang","doi":"10.1016/j.gendis.2024.101448","DOIUrl":"10.1016/j.gendis.2024.101448","url":null,"abstract":"<div><div>Iridocorneal endothelial (ICE) syndrome is a rare, irreversibly blinding eye disease with an unknown etiology. Understanding its genomic and epigenomic landscape could aid in developing etiology-based therapies. In this study, we recruited 99 ICE patients and performed whole-genome sequencing (WGS) on 51 and genome-wide DNA methylation profiling on 48 of them. We conducted mutational burden testing on genes and noncoding regulatory regions, comparing the ICE cohort with control groups (9197 East Asians from the gnomAD database and 350 normal Chinese from our in-house cohort). Copy number variation (CNV) analysis and differential methylation of regions were also explored. We identified RP1L1 (27/51, 53%) with a significantly higher coding-altering mutational burden in the ICE cohort (p < 8.3×10<sup>−7</sup>), with mutations predominantly at chr8:10467637 (hg19). Additionally, 41 regions with significant CNVs were identified, including two regions at chr19:15783859-15791329 (hg19) and chr3:75786061-75790887 (hg19), showing copy number loss in 39 and 19 patients, respectively. We also identified 2,717 differentially methylated regions (DMRs), with hypomethylation prevalent in ICE syndrome (91.9% of DMRs). Among these, 45 recurrent hypomethylated regions (HMRs) in more than 10% of ICE patients showed differential methylation compared to normal controls. This study presents the first comprehensive genomic and epigenomic characterization of ICE syndrome, offering insights into its underlying etiology.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 3","pages":"Article 101448"},"PeriodicalIF":6.9,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143511451","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}

引用次数: 0

Molecular mechanism of tumor-infiltrating immune cells regulating endometrial carcinoma

IF 6.9 2区医学

Genes & Diseases Pub Date : 2024-11-05 DOI: 10.1016/j.gendis.2024.101442

Silu Ding , Yingying Hao , Yue Qi , Heng Wei , Jin Zhang , Hui Li

{"title":"Molecular mechanism of tumor-infiltrating immune cells regulating endometrial carcinoma","authors":"Silu Ding , Yingying Hao , Yue Qi , Heng Wei , Jin Zhang , Hui Li","doi":"10.1016/j.gendis.2024.101442","DOIUrl":"10.1016/j.gendis.2024.101442","url":null,"abstract":"<div><div>Endometrial carcinoma (EC) is a prevalent gynecological cancer, and its interaction with the immune system is pivotal in cancer progression. This comprehensive review explores the molecular mechanisms involved in the regulation of EC by tumor-infiltrating immune cells. This review discusses the composition and functions of various immune cell types within the tumor microenvironment, including T cells, B cells, macrophages, and natural killer cells, and elucidates their specific roles in cancer control. It also delves into the immune evasion strategies employed by EC cells, with a specific focus on immune checkpoint pathways and their influence on tumor development. Signaling pathways, cytokines, and chemokines mediating immune responses within the tumor microenvironment are also detailed. Furthermore, clinical implications and therapeutic strategies, such as immunotherapies, are also reviewed, and relevant clinical trials are discussed. Additionally, this review discusses the existing gaps in our knowledge, suggests potential avenues for future research, and emphasizes the significance of understanding these mechanisms for enhanced EC treatment. This review provides an exhaustive overview of the current knowledge, supporting the ongoing quest for more effective therapeutic interventions on EC.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 3","pages":"Article 101442"},"PeriodicalIF":6.9,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143464628","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}

引用次数: 0

CRISPR/Cas9 screening reveals Zfp607b as a novel transcription factor regulating myogenesis

IF 6.9 2区医学

Genes & Diseases Pub Date : 2024-10-30 DOI: 10.1016/j.gendis.2024.101444

Siyuan Liu , Wei Wang , Zishuai Wang , Chao Yan , Guohao Han , Weiwei Liu , Yuxing Huang , Wangchang Li , Shengsong Xie , Zhonglin Tang

引用次数: 0