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Assessment of the transcriptomic consequences and MAU2 protein levels in edited induced pluripotent stem cells with NIPBL pathogenic variants 评估带有 NIPBL 致病变体的诱导多能干细胞的转录组后果和 MAU2 蛋白水平
IF 6.8 2区 医学
Genes & Diseases Pub Date : 2024-08-06 DOI: 10.1016/j.gendis.2024.101386
Kévin Cassinari, Anne Rovelet-Lecrux, Céline Derambure, Myriam Vezain, Sophie Coutant, Anne-Claire Richard, Nathalie Drouot, Juliette Coursimault, Gabriella Vera, Alice Goldenberg, Pascale Saugier-Veber, Camille Charbonnier, Gaël Nicolas
{"title":"Assessment of the transcriptomic consequences and MAU2 protein levels in edited induced pluripotent stem cells with NIPBL pathogenic variants","authors":"Kévin Cassinari, Anne Rovelet-Lecrux, Céline Derambure, Myriam Vezain, Sophie Coutant, Anne-Claire Richard, Nathalie Drouot, Juliette Coursimault, Gabriella Vera, Alice Goldenberg, Pascale Saugier-Veber, Camille Charbonnier, Gaël Nicolas","doi":"10.1016/j.gendis.2024.101386","DOIUrl":"https://doi.org/10.1016/j.gendis.2024.101386","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"78 1","pages":""},"PeriodicalIF":6.8,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142198747","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
Phosphorylation-related genes in lupus nephritis: Single-cell and machine learning insights 狼疮性肾炎中的磷酸化相关基因:单细胞和机器学习见解
IF 6.8 2区 医学
Genes & Diseases Pub Date : 2024-08-06 DOI: 10.1016/j.gendis.2024.101385
Lisha Mou, Zhihao Chen, Xinran Tian, Yupeng Lai, Zuhui Pu, Meiying Wang
{"title":"Phosphorylation-related genes in lupus nephritis: Single-cell and machine learning insights","authors":"Lisha Mou, Zhihao Chen, Xinran Tian, Yupeng Lai, Zuhui Pu, Meiying Wang","doi":"10.1016/j.gendis.2024.101385","DOIUrl":"https://doi.org/10.1016/j.gendis.2024.101385","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"46 1","pages":""},"PeriodicalIF":6.8,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142198744","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
Urinary exosomal lnc-TAF12–2:1 promotes bladder cancer progression through the miR-7847–3p/ASB12 regulatory axis 尿液外泌体 lnc-TAF12-2:1 通过 miR-7847-3p/ASB12 调控轴促进膀胱癌进展
IF 6.8 2区 医学
Genes & Diseases Pub Date : 2024-08-05 DOI: 10.1016/j.gendis.2024.101384
Song Chen, Jie Cheng, Shuangtai Liu, Danni Shan, Ting Wang, Xinghuan Wang
{"title":"Urinary exosomal lnc-TAF12–2:1 promotes bladder cancer progression through the miR-7847–3p/ASB12 regulatory axis","authors":"Song Chen, Jie Cheng, Shuangtai Liu, Danni Shan, Ting Wang, Xinghuan Wang","doi":"10.1016/j.gendis.2024.101384","DOIUrl":"https://doi.org/10.1016/j.gendis.2024.101384","url":null,"abstract":"Exosomes encompass a great deal of valuable biological information and play a critical role in tumor development. However, the mechanism of exosomal lncRNAs remains poorly elucidated in bladder cancer (BCa). In this study, we identified exosomal lnc-TAF12–2:1 as a novel biomarker in BCa diagnosis and aimed to investigate the underlying biological function. Dual luciferase reporter assay, RNA immunoprecipitation (RIP), RNA pulldown assays, and xenograft mouse model were used to verify the competitive endogenous RNA mechanism of lnc-TAF12–2:1. We found exosomal lnc-TAF12–2:1 up-regulated in urinary exosomes, tumor tissues of patients, and BCa cells. Down-regulation of lnc-TAF12–2:1 impaired BCa cell proliferation and migration, and promoted cell cycle arrest at the G0/G1 phase and cell apoptosis. The opposite effects were also observed when lnc-TAF12–2:1 was overexpressed. lnc-TAF12–2:1 was transferred by intercellular exosomes to modulate malignant biological behavior. Mechanistically, lnc-TAF12–2:1 packaged in the exosomes relieved the miRNA-mediated silence effect on ASB12 via serving as a sponger of miR-7847–3p to accelerate progression in BCa. ASB12 was also first proved as an oncogene to promote cell proliferation and migration and depress cell cycle arrest and cell apoptosis in our data. In conclusion, exosomal lnc-TAF12–2:1, located in the cytoplasm of BCa, might act as a competitive endogenous RNA to competitively bind to miR-7847–3p, and then be involved in miR-7847–3p/ASB12 regulatory axis to promote tumorigenesis, which provided a deeper insight into the molecular mechanism of BCa.","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"28 1","pages":""},"PeriodicalIF":6.8,"publicationDate":"2024-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142198748","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
Expanded insights into the mechanisms of RNA-binding protein regulation of circRNA generation and function in cancer biology and therapy 深入了解 RNA 结合蛋白在癌症生物学和治疗中调控 circRNA 生成和功能的机制
IF 6.8 2区 医学
Genes & Diseases Pub Date : 2024-08-03 DOI: 10.1016/j.gendis.2024.101383
Lixia Li, Chunhui Wei, Yu Xie, Yanyu Su, Caixia Liu, Guiqiang Qiu, Weiliang Liu, Yanmei Liang, Xuanna Zhao, Dan Huang, Dong Wu
{"title":"Expanded insights into the mechanisms of RNA-binding protein regulation of circRNA generation and function in cancer biology and therapy","authors":"Lixia Li, Chunhui Wei, Yu Xie, Yanyu Su, Caixia Liu, Guiqiang Qiu, Weiliang Liu, Yanmei Liang, Xuanna Zhao, Dan Huang, Dong Wu","doi":"10.1016/j.gendis.2024.101383","DOIUrl":"https://doi.org/10.1016/j.gendis.2024.101383","url":null,"abstract":"RNA-binding proteins (RBPs) regulate the generation of circular RNAs (circRNAs) by participating in the reverse splicing of circRNA and thereby influencing circRNA function in cells and diseases, including cancer. Increasing evidence has demonstrated that the circRNA-RBP network plays a complex and multifaceted role in tumor progression. Thus, a better understanding of this network may provide new insights for the discovery of cancer drugs. In this review, we discuss the characteristics of RBPs and circRNAs and how the circRNA-RBP network regulates tumor cell phenotypes such as proliferation, metastasis, apoptosis, metabolism, immunity, drug resistance, and the tumor environment. Moreover, we investigate the factors that influence circRNA-RBP interactions and the regulation of downstream pathways related to tumor development, such as the tumor microenvironment and N6-methyladenosine modification. Furthermore, we discuss new ideas for targeting circRNA-RBP interactions using various RNA technologies.","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"13 1","pages":""},"PeriodicalIF":6.8,"publicationDate":"2024-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142198749","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
Actin polymerization regulates the osteogenesis of hASCs by influencing α-tubulin expression and Eg5 activity 肌动蛋白聚合通过影响α-微管蛋白的表达和Eg5的活性调节hASCs的成骨过程
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2024-07-26 DOI: 10.1016/j.gendis.2024.101380
Tingyu Fan , Wenqing Liu , Rongmei Qu , Jinhui Zhu , Yulian Shi , Jiaxuan Liu , Xiangtian Li , Zhitao Zhou , Yunbing Chang , Jun Ouyang , Jingxing Dai
{"title":"Actin polymerization regulates the osteogenesis of hASCs by influencing α-tubulin expression and Eg5 activity","authors":"Tingyu Fan , Wenqing Liu , Rongmei Qu , Jinhui Zhu , Yulian Shi , Jiaxuan Liu , Xiangtian Li , Zhitao Zhou , Yunbing Chang , Jun Ouyang , Jingxing Dai","doi":"10.1016/j.gendis.2024.101380","DOIUrl":"10.1016/j.gendis.2024.101380","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 2","pages":"Article 101380"},"PeriodicalIF":6.9,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141850434","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
Isoleucyl-tRNA synthetase 2 promotes pancreatic ductal adenocarcinoma proliferation and metastasis by stabilizing β-catenin 异亮氨酰-tRNA合成酶2通过稳定β-catenin促进胰腺导管腺癌的增殖和转移
IF 6.8 2区 医学
Genes & Diseases Pub Date : 2024-07-24 DOI: 10.1016/j.gendis.2024.101382
Yixun Jin, Xinyang Huang, Zhuoxin Wang, Berik Kouken, Qi Wang, Lifu Wang
{"title":"Isoleucyl-tRNA synthetase 2 promotes pancreatic ductal adenocarcinoma proliferation and metastasis by stabilizing β-catenin","authors":"Yixun Jin, Xinyang Huang, Zhuoxin Wang, Berik Kouken, Qi Wang, Lifu Wang","doi":"10.1016/j.gendis.2024.101382","DOIUrl":"https://doi.org/10.1016/j.gendis.2024.101382","url":null,"abstract":"Isoleucyl-tRNA synthetase 2 (IARS2), originally regarded as an enzyme ligating isoleucine to the corresponding tRNA, has been identified as an oncogene recently. However, its function in pancreatic ductal adenocarcinoma (PDAC) remains to be discovered. Here we explored the biological role of IARS2 in PDAC. Up-regulated IARS2 was found in PDAC tissues and cell lines. Kaplan-Meier survival analysis indicated a worse prognosis in patients with high IARS2 expression. CCK-8, EdU, and colony formation assays showed IARS2 overexpression enhanced PDAC proliferation, which was reduced by IARS2 knockdown. Meanwhile, IARS2 down-regulation inhibited PDAC metastasis by impeding epithelial–mesenchymal transition. These results were also supported by subcutaneous xenograft and metastasis assays . To figure out underlying mechanisms, differential and enrichment analyses were conducted and the WNT signaling pathway was discovered. Our results demonstrated that there was no significant relationship between the WNT signaling pathway key factor CTNNB1 and IARS2 at the transcription level. However, cycloheximide assays showed that IARS2 reduced the β-catenin degradation rate. IARS2 inhibited the phosphorylation of β-catenin at the Ser33/37 site and regulated downstream targets of WNT signaling including c-MYC, c-JUN, and MMP7. The enhancement of proliferation and metastasis caused by IARS2 could be reversed by MSAB, an agent that promotes β-catenin degradation. In summary, IARS2 facilitates PDAC proliferation and metastasis by stabilizing β-catenin, which leads to WNT/β-catenin activation. IARS2 serves as an underlying prognosis marker and a potential therapeutic target for PDAC.","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"62 1","pages":""},"PeriodicalIF":6.8,"publicationDate":"2024-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141779649","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
Heterozygous deletion of Cul4b in female mice leads to ovulatory dysfunction and female infertility 雌性小鼠杂合子缺失 Cul4b 会导致排卵功能障碍和雌性不孕症
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2024-07-24 DOI: 10.1016/j.gendis.2024.101381
Yufeng Wang , Yuting Liu , Wei Jiang , Yu Song , Yongxin Zou , Molin Wang , Qiao Liu , Gongping Sun , Yaoqin Gong , Baichun Jiang
{"title":"Heterozygous deletion of Cul4b in female mice leads to ovulatory dysfunction and female infertility","authors":"Yufeng Wang , Yuting Liu , Wei Jiang , Yu Song , Yongxin Zou , Molin Wang , Qiao Liu , Gongping Sun , Yaoqin Gong , Baichun Jiang","doi":"10.1016/j.gendis.2024.101381","DOIUrl":"10.1016/j.gendis.2024.101381","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 1","pages":"Article 101381"},"PeriodicalIF":6.9,"publicationDate":"2024-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141785808","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
ApoL1 risk allele accelerates high-fat diet-induced atherosclerosis in LDLR−/− hamsters 载脂蛋白 L1 风险等位基因加速高脂饮食诱导的 LDLR-/- 仓鼠动脉粥样硬化
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2024-07-23 DOI: 10.1016/j.gendis.2024.101379
Yitong Xu , Wenxi Zhang , Jiabao Guo , Jinxuan Chen , Guolin Miao , Lianxin Zhang , Yufei Han , Jingxuan Chen , Ying Zhao , Xunde Xian
{"title":"ApoL1 risk allele accelerates high-fat diet-induced atherosclerosis in LDLR−/− hamsters","authors":"Yitong Xu , Wenxi Zhang , Jiabao Guo , Jinxuan Chen , Guolin Miao , Lianxin Zhang , Yufei Han , Jingxuan Chen , Ying Zhao , Xunde Xian","doi":"10.1016/j.gendis.2024.101379","DOIUrl":"10.1016/j.gendis.2024.101379","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 2","pages":"Article 101379"},"PeriodicalIF":6.9,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141785751","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
Reactive oxygen species mediate ovarian cancer development, platinum resistance, and angiogenesis via CXCL8 and GSK-3β/p70S6K1 axis 活性氧通过 CXCL8 和 GSK-3β/p70S6K1 轴介导卵巢癌的发展、铂类抗性和血管生成
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2024-07-17 DOI: 10.1016/j.gendis.2024.101378
Jiange Qiu , Qing Xu , Tahira Panah , A K M Helal Morshed , Xue Wang , Fengmei Zhou , Wenjing Liu , Jufeng Wang , Ye Zhang , Bingjie Liu , Bing-Hua Jiang
{"title":"Reactive oxygen species mediate ovarian cancer development, platinum resistance, and angiogenesis via CXCL8 and GSK-3β/p70S6K1 axis","authors":"Jiange Qiu , Qing Xu , Tahira Panah , A K M Helal Morshed , Xue Wang , Fengmei Zhou , Wenjing Liu , Jufeng Wang , Ye Zhang , Bingjie Liu , Bing-Hua Jiang","doi":"10.1016/j.gendis.2024.101378","DOIUrl":"10.1016/j.gendis.2024.101378","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 2","pages":"Article 101378"},"PeriodicalIF":6.9,"publicationDate":"2024-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141785752","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
Integrative analysis of the metabolomes and transcriptomes of Ebola virus-infected cells: Uncovering pathways related to hepatic apoptosis 埃博拉病毒感染细胞代谢组和转录组的综合分析:揭示与肝细胞凋亡相关的途径
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2024-07-16 DOI: 10.1016/j.gendis.2024.101377
Chenchen Liu , Zengguo Cao , Cheng Peng , Fangxu Li , Zixi Chen , Xinghai Zhang , Xiaoying Jia , Jinge Zhou , Wenting Mao , Entao Li , Gengfu Xiao , Sandra Chiu
{"title":"Integrative analysis of the metabolomes and transcriptomes of Ebola virus-infected cells: Uncovering pathways related to hepatic apoptosis","authors":"Chenchen Liu , Zengguo Cao , Cheng Peng , Fangxu Li , Zixi Chen , Xinghai Zhang , Xiaoying Jia , Jinge Zhou , Wenting Mao , Entao Li , Gengfu Xiao , Sandra Chiu","doi":"10.1016/j.gendis.2024.101377","DOIUrl":"10.1016/j.gendis.2024.101377","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 2","pages":"Article 101377"},"PeriodicalIF":6.9,"publicationDate":"2024-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141779650","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
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