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A novel homozygous intronic variant affecting splicing in the RYR1 gene contributes to fetal hydrops 影响 RYR1 基因剪接的新型同卵内含子变异导致胎儿肾积水
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2024-07-14 DOI: 10.1016/j.gendis.2024.101375
Wei Hou , Guifang Huang , Hongyu Wei , Wenwei Li , Houfeng Huang , Yuling Qiu , Hengying Zhu , Huifeng Han , Ping Chen , Xue Zhang
{"title":"A novel homozygous intronic variant affecting splicing in the RYR1 gene contributes to fetal hydrops","authors":"Wei Hou , Guifang Huang , Hongyu Wei , Wenwei Li , Houfeng Huang , Yuling Qiu , Hengying Zhu , Huifeng Han , Ping Chen , Xue Zhang","doi":"10.1016/j.gendis.2024.101375","DOIUrl":"10.1016/j.gendis.2024.101375","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"11 6","pages":"Article 101375"},"PeriodicalIF":6.9,"publicationDate":"2024-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352304224001727/pdfft?md5=cdf11e4954ffcdbe2575704ac5252ecc&pid=1-s2.0-S2352304224001727-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141703123","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
Prevalence of synonymous mutations in m6A modification sites in human cancers 人类癌症中 m6A 修饰位点同义突变的发生率
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2024-07-06 DOI: 10.1016/j.gendis.2024.101373
{"title":"Prevalence of synonymous mutations in m6A modification sites in human cancers","authors":"","doi":"10.1016/j.gendis.2024.101373","DOIUrl":"10.1016/j.gendis.2024.101373","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 1","pages":"Article 101373"},"PeriodicalIF":6.9,"publicationDate":"2024-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141588491","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
Transcription factors, metabolic dysfunction-associated fatty liver disease, and therapeutic implications 转录因子、代谢功能障碍相关脂肪肝及其治疗意义
IF 6.8 2区 医学
Genes & Diseases Pub Date : 2024-07-05 DOI: 10.1016/j.gendis.2024.101372
Shuwei Hu, Yingjie Ai, Chencheng Hu, Fathima N. Cassim Bawa, Yanyong Xu
{"title":"Transcription factors, metabolic dysfunction-associated fatty liver disease, and therapeutic implications","authors":"Shuwei Hu, Yingjie Ai, Chencheng Hu, Fathima N. Cassim Bawa, Yanyong Xu","doi":"10.1016/j.gendis.2024.101372","DOIUrl":"https://doi.org/10.1016/j.gendis.2024.101372","url":null,"abstract":"Metabolic dysfunction-associated fatty liver disease (MAFLD) encompasses a spectrum of liver diseases ranging from metabolic dysfunction-associated fatty liver to metabolic dysfunction-associated steatohepatitis, which may progress to liver cirrhosis and hepatocellular carcinoma. Several mechanisms, including obesity, insulin resistance, dyslipidemia, inflammation, apoptosis, mitochondrial dysfunction, and reactive oxygen species, have been proposed to underlie the progression of MAFLD. Transcription factors are proteins that specifically bind to DNA sequences to regulate the transcription of target genes. Numerous transcription factors regulate MAFLD by modulating the transcription of genes involved in steatosis, inflammation, apoptosis, and fibrosis. Here, we review the pathological factors associated with MAFLD, with a particular emphasis on the transcription factors that contribute to the progression of MAFLD and their therapeutic implications.","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"10 1","pages":""},"PeriodicalIF":6.8,"publicationDate":"2024-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141588493","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 abnormal splicing regulation network caused by synonymous mutations in FBN1 exon 39 leads to Marfan syndrome FBN1 第 39 号外显子同义突变引起的剪接调控网络异常导致马凡综合征
IF 6.8 2区 医学
Genes & Diseases Pub Date : 2024-07-03 DOI: 10.1016/j.gendis.2024.101371
Fudan Wu, Mingjie Li, Xuan Zhou, Qianyun Wang, Yan'an Wu
{"title":"The abnormal splicing regulation network caused by synonymous mutations in FBN1 exon 39 leads to Marfan syndrome","authors":"Fudan Wu, Mingjie Li, Xuan Zhou, Qianyun Wang, Yan'an Wu","doi":"10.1016/j.gendis.2024.101371","DOIUrl":"https://doi.org/10.1016/j.gendis.2024.101371","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"37 1","pages":""},"PeriodicalIF":6.8,"publicationDate":"2024-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141588492","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
GOT2: New therapeutic target in pancreatic cancer GOT2：胰腺癌的新治疗靶点
IF 6.8 2区 医学
Genes & Diseases Pub Date : 2024-07-02 DOI: 10.1016/j.gendis.2024.101370
Jiarui Bu, Zeyu Miao, Qing Yang
{"title":"GOT2: New therapeutic target in pancreatic cancer","authors":"Jiarui Bu, Zeyu Miao, Qing Yang","doi":"10.1016/j.gendis.2024.101370","DOIUrl":"https://doi.org/10.1016/j.gendis.2024.101370","url":null,"abstract":"In recent years, the incidence and mortality rates of pancreatic cancer have been steadily increasing, and conventional therapies have shown a high degree of tolerance. Therefore, the search for new therapeutic targets remains a key issue in current research. Mitochondrial glutamic-oxaloacetic transaminase 2 (GOT2) is an important component of the malate-aspartate shuttle system, which plays an important role in the maintenance of cellular redox balance and amino acid metabolism, and has the potential to become a promising target for anti-cancer therapy. In this paper, we will elaborate on the metabolic and immune effects of GOT2 in pancreatic cancer based on existing studies, with a view to opening up new avenues for the treatment of pancreatic cancer.","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"10 1","pages":""},"PeriodicalIF":6.8,"publicationDate":"2024-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141585126","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
DARG: An integrated knowledge base for analyzing addictive drug-related genes DARG：分析成瘾药物相关基因的综合知识库
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2024-06-28 DOI: 10.1016/j.gendis.2024.101369
Xu Wang, Bei Yun, Zihan Zhang, Xiaoxi Wang, Yifan Wu, Yubo Hu, Shiyi Fang, Junjie Lv, Lina Chen, Wan Li
{"title":"DARG: An integrated knowledge base for analyzing addictive drug-related genes","authors":"Xu Wang, Bei Yun, Zihan Zhang, Xiaoxi Wang, Yifan Wu, Yubo Hu, Shiyi Fang, Junjie Lv, Lina Chen, Wan Li","doi":"10.1016/j.gendis.2024.101369","DOIUrl":"10.1016/j.gendis.2024.101369","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 2","pages":"Article 101369"},"PeriodicalIF":6.9,"publicationDate":"2024-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141588494","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
SIK2 promotes malignant features of human osteosarcoma via up-regulating MMP2 and β-catenin expression SIK2 通过上调 MMP2 和 β-catenin 的表达促进人类骨肉瘤的恶性特征
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2024-06-26 DOI: 10.1016/j.gendis.2024.101325
Yutong Wang , Yulan Yao , Sen Kou , Shanshan Wang , Juntao Song , Siqi Yang , Hongwei Wang , Yunliang Wang
{"title":"SIK2 promotes malignant features of human osteosarcoma via up-regulating MMP2 and β-catenin expression","authors":"Yutong Wang , Yulan Yao , Sen Kou , Shanshan Wang , Juntao Song , Siqi Yang , Hongwei Wang , Yunliang Wang","doi":"10.1016/j.gendis.2024.101325","DOIUrl":"10.1016/j.gendis.2024.101325","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 2","pages":"Article 101325"},"PeriodicalIF":6.9,"publicationDate":"2024-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141547900","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
HOXB6 down-regulation induced by retinoic acid pathway repression leads to chondrocyte proliferation inhibition and apoptosis in microtia 视黄酸通路抑制诱导的 HOXB6 下调导致小耳症软骨细胞增殖抑制和凋亡
IF 6.8 2区 医学
Genes & Diseases Pub Date : 2024-06-25 DOI: 10.1016/j.gendis.2024.101367
Run Yang, Xin Chen, Siyi Wu, Chenlong Li, Ying Chen, Yaoyao Fu, Aijuan He, Duan Ma, Jing Ma, Tianyu Zhang
{"title":"HOXB6 down-regulation induced by retinoic acid pathway repression leads to chondrocyte proliferation inhibition and apoptosis in microtia","authors":"Run Yang, Xin Chen, Siyi Wu, Chenlong Li, Ying Chen, Yaoyao Fu, Aijuan He, Duan Ma, Jing Ma, Tianyu Zhang","doi":"10.1016/j.gendis.2024.101367","DOIUrl":"https://doi.org/10.1016/j.gendis.2024.101367","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"40 1","pages":""},"PeriodicalIF":6.8,"publicationDate":"2024-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141547895","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
Protein citrullination in gene transcription regulation and physiological implications 蛋白瓜氨酸化在基因转录调控中的作用及其生理意义
IF 6.8 2区 医学
Genes & Diseases Pub Date : 2024-06-22 DOI: 10.1016/j.gendis.2024.101355
Xiaoya Zhang, Guiqiu Xie, Lang Rao, Chaoguang Tian
{"title":"Protein citrullination in gene transcription regulation and physiological implications","authors":"Xiaoya Zhang, Guiqiu Xie, Lang Rao, Chaoguang Tian","doi":"10.1016/j.gendis.2024.101355","DOIUrl":"https://doi.org/10.1016/j.gendis.2024.101355","url":null,"abstract":"Protein citrullination involves the deimination of arginine or methylarginine residues in peptide chains to form citrulline by peptidyl arginine deiminases. This process is an important protein post-translational modification that affects molecular structure and function of various proteins, including histones. In recent years, protein citrullination has attracted widespread attention for its influence on gene transcription. Studies on the impact of protein citrullination modification on chromatin structure remodeling and the establishment of gene regulatory networks have made rapid progress. In this review, we briefly summarize the physiological functions of protein citrullination modification. Specifically, we comprehensively outline the latest progress in the study of the role of protein citrullination modification in gene transcription regulation, focusing on the interaction of protein citrullination with other post-translational modifications.","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"24 1","pages":""},"PeriodicalIF":6.8,"publicationDate":"2024-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141547897","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
EWSR1-PSMC5 fusion gene variously activating autophagy in drug resistance of osteosarcoma: A novel gene fusion model report and mechanism research EWSR1-PSMC5融合基因在骨肉瘤耐药性中不同程度地激活自噬作用：新型基因融合模型报告及机制研究
IF 6.8 2区 医学
Genes & Diseases Pub Date : 2024-06-21 DOI: 10.1016/j.gendis.2024.101358
Qing Pan, Wenbo Yang, Fuhua Huang, Wei Wu, Zengwu Shao, Zhicai Zhang
{"title":"EWSR1-PSMC5 fusion gene variously activating autophagy in drug resistance of osteosarcoma: A novel gene fusion model report and mechanism research","authors":"Qing Pan, Wenbo Yang, Fuhua Huang, Wei Wu, Zengwu Shao, Zhicai Zhang","doi":"10.1016/j.gendis.2024.101358","DOIUrl":"https://doi.org/10.1016/j.gendis.2024.101358","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"11 1","pages":""},"PeriodicalIF":6.8,"publicationDate":"2024-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141547896","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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