发布求助
文献互助 智能选刊 最新文献

Genes & Diseases最新文献

筛选
英文 中文
CTpredX: Enhancing missense variant pathogenicity prediction in childhood cancer predisposition genes CTpredX：增强儿童癌症易感基因的错义变异致病性预测
IF 9.4 2区 医学
Genes & Diseases Pub Date : 2025-04-28 DOI: 10.1016/j.gendis.2025.101661
Ferdinando Bonfiglio , Vito Alessandro Lasorsa , Giampiero Pirozzi , Achille Iolascon , Mario Capasso
{"title":"CTpredX: Enhancing missense variant pathogenicity prediction in childhood cancer predisposition genes","authors":"Ferdinando Bonfiglio , Vito Alessandro Lasorsa , Giampiero Pirozzi , Achille Iolascon , Mario Capasso","doi":"10.1016/j.gendis.2025.101661","DOIUrl":"10.1016/j.gendis.2025.101661","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"13 1","pages":"Article 101661"},"PeriodicalIF":9.4,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145061125","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
Dissecting trophoblastic heterogeneity in abnormal pregnancy: Insights from comparative analysis of twin-pregnancy with hydatidiform mole and coexisting live fetus 异常妊娠的解剖滋养层异质性：来自双胎胎胎和胎胎共存的比较分析
IF 9.4 2区 医学
Genes & Diseases Pub Date : 2025-04-28 DOI: 10.1016/j.gendis.2025.101651
Chen Li , Jiandong Chen , Hao Wu , Songfa Zhang , Na Yu , Zhiang Chen , Bingjian Lu , Santasree Banerjee , Weiguo Lu , Jiale Qin
{"title":"Dissecting trophoblastic heterogeneity in abnormal pregnancy: Insights from comparative analysis of twin-pregnancy with hydatidiform mole and coexisting live fetus","authors":"Chen Li , Jiandong Chen , Hao Wu , Songfa Zhang , Na Yu , Zhiang Chen , Bingjian Lu , Santasree Banerjee , Weiguo Lu , Jiale Qin","doi":"10.1016/j.gendis.2025.101651","DOIUrl":"10.1016/j.gendis.2025.101651","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"13 1","pages":"Article 101651"},"PeriodicalIF":9.4,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145027514","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
Elevated miR-34a induced by lipotoxicity and inflammation mediates pathophysiological communication between hepatocytes and hepatic stellate cells in liver fibrosis 脂毒性和炎症诱导的miR-34a升高介导肝纤维化中肝细胞和肝星状细胞之间的病理生理通讯
IF 9.4 2区 医学
Genes & Diseases Pub Date : 2025-04-18 DOI: 10.1016/j.gendis.2025.101648
Qihua Duan , Ruixiang Hu , Yan Chen , Henry Wade , Szczepan Kaluzny , Bingrui Zhang , Rongxue Wu , Guangnan Liu , Cunchuan Wang , Edward N. Harris , Qiaozhu Su
{"title":"Elevated miR-34a induced by lipotoxicity and inflammation mediates pathophysiological communication between hepatocytes and hepatic stellate cells in liver fibrosis","authors":"Qihua Duan ,&nbsp;Ruixiang Hu ,&nbsp;Yan Chen ,&nbsp;Henry Wade ,&nbsp;Szczepan Kaluzny ,&nbsp;Bingrui Zhang ,&nbsp;Rongxue Wu ,&nbsp;Guangnan Liu ,&nbsp;Cunchuan Wang ,&nbsp;Edward N. Harris ,&nbsp;Qiaozhu Su","doi":"10.1016/j.gendis.2025.101648","DOIUrl":"10.1016/j.gendis.2025.101648","url":null,"abstract":"<div><div>Increased mortality in patients with metabolic dysfunction-associated steatotic liver disease (MASLD) imposes an urgent need to elucidate the pathogenesis of MASLD so that novel therapeutic strategies may be identified. Here, we delineate the mechanism of microRNA-34a-5p (miR-34a) in the progressive liver injury of MASLD and liver fibrosis. Specifically, liver tissue from patients with obesity-associated hepatic steatosis, metabolic dysfunction-associated steatohepatitis (MASH), and fibrosis, as well as liver tissues from a human MASLD-like mouse model, were utilized for this study. We found that lipotoxicity resulting from obesity or saturated free fatty acid treatment induced miR-34a expression in human liver tissue or mouse hepatocytes, which was accompanied by dysregulation of lipoprotein metabolism, activation of inflammation, and ballooning degeneration of hepatocytes. Moreover, increased cellular miR-34a induced by treatment with saturated fat, palmitic acid, or transfection of miR-34a mimic was released from injured hepatocytes into the conditional cell culture media, which mediated pathological communications between hepatocytes and hepatic stellate cells, activated pro-fibrogenic signaling in hepatic stellate cells, and induced extracellular matrix remodeling. These phenotypes were recapitulated in a human MASLD-like mouse model in which MASLD and liver fibrosis were induced via streptozotocin treatment and high-fat feeding. Elevated expression of miR-34a was found in mouse liver tissues, which conveyed the progressive liver injury from steatosis to MASH and liver fibrosis. Our findings demonstrate that elevated miR-34a induced by lipotoxicity and metabolic inflammation are key driving factors in the progressive liver injury from simple steatosis to MASH and liver fibrosis.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 6","pages":"Article 101648"},"PeriodicalIF":9.4,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144830430","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
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 ,&nbsp;Xiaoxi Zhang ,&nbsp;Chang Liu ,&nbsp;Hui Zhu ,&nbsp;Wenjiao Zhu ,&nbsp;Yue Xu ,&nbsp;Fengxue Zhang ,&nbsp;Kaiwen Zhang ,&nbsp;Shuhua Xu ,&nbsp;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 ,&nbsp;Nuo Si ,&nbsp;Ningbei Yin ,&nbsp;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 ,&nbsp;Zhichang Peter Zhou ,&nbsp;Ziyan Rachel Chen ,&nbsp;Rongqi Duan ,&nbsp;Alan Richard Davidson ,&nbsp;Amy P. Wong ,&nbsp;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 ,&nbsp;Fen Wang ,&nbsp;Min Shen ,&nbsp;Xiaohui Liang ,&nbsp;Dan Wei ,&nbsp;Xi Zhu ,&nbsp;Ying Qu ,&nbsp;Xunbin Wei ,&nbsp;Hua Jiang ,&nbsp;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
CCDC86-BHLHE40-ATF3 axis promotes aerobic glycolysis and tumor development in glioma CCDC86-BHLHE40-ATF3轴促进胶质瘤中有氧糖酵解和肿瘤发展
IF 9.4 2区 医学
Genes & Diseases Pub Date : 2025-04-12 DOI: 10.1016/j.gendis.2025.101643
Jinping Liu , Dingyu Du , Yukai Huang , Jie Tian , Xuhui Wang , Longyi Chen , Feng Wang
{"title":"CCDC86-BHLHE40-ATF3 axis promotes aerobic glycolysis and tumor development in glioma","authors":"Jinping Liu ,&nbsp;Dingyu Du ,&nbsp;Yukai Huang ,&nbsp;Jie Tian ,&nbsp;Xuhui Wang ,&nbsp;Longyi Chen ,&nbsp;Feng Wang","doi":"10.1016/j.gendis.2025.101643","DOIUrl":"10.1016/j.gendis.2025.101643","url":null,"abstract":"<div><div>Glioma, an aggressively malignant brain tumor with a poor prognosis, comprises nearly 50% of all primary malignant brain tumors. Despite its significance in other cancers, the role of coiled-coil domain containing 86(CCDC86) in glioma remains largely unexplored. Our study revealed a significant up-regulation of CCDC86 expression in glioma tissues, correlating notably with patient age, tumor recurrence, and pathological grade. Moreover, elevated CCDC86 level was associated with a worsened prognosis among glioma patients. Functional assays demonstrated that CCDC86 knockdown attenuated glioma cell proliferation and migration while inducing apoptosis and cell cycle arrest <em>in vitro</em> and inhibited tumorigenesis <em>in vivo</em>. Furthermore, ATF3 emerged as a downstream target gene of CCDC86, as its knockdown could counteract the oncogenic effects induced by CCDC86 overexpression in glioma cells. Mechanistically, CCDC86 promoted the transcriptional regulation of ATF3 by BHLHE40 through interaction with it, stabilizing the expression of ATF3. Additionally, our investigation unveiled a potential mechanism whereby CCDC86 activated the ERK signaling pathway through ATF3, thus influencing glycolysis to drive tumor progression. In conclusion, our study highlights the pivotal role of CCDC86 in glioma progression, suggesting its potential as a therapeutic target for the development of novel glioma treatments.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 6","pages":"Article 101643"},"PeriodicalIF":9.4,"publicationDate":"2025-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144827358","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
OTX1 promotes TNBC cell proliferation and tumor growth through the ERK pathway OTX1通过ERK途径促进TNBC细胞增殖和肿瘤生长
IF 9.4 2区 医学
Genes & Diseases Pub Date : 2025-04-11 DOI: 10.1016/j.gendis.2025.101642
Huaying Xie , Dihe Gong , Huaqiang Zhong , Jurui Luo , Liangjie Yu , Meimei Gao , Zihao Xu , Wen Yun , Yongrui Bai , Jian Sun
{"title":"OTX1 promotes TNBC cell proliferation and tumor growth through the ERK pathway","authors":"Huaying Xie ,&nbsp;Dihe Gong ,&nbsp;Huaqiang Zhong ,&nbsp;Jurui Luo ,&nbsp;Liangjie Yu ,&nbsp;Meimei Gao ,&nbsp;Zihao Xu ,&nbsp;Wen Yun ,&nbsp;Yongrui Bai ,&nbsp;Jian Sun","doi":"10.1016/j.gendis.2025.101642","DOIUrl":"10.1016/j.gendis.2025.101642","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"13 1","pages":"Article 101642"},"PeriodicalIF":9.4,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145096760","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 ,&nbsp;Dawei He ,&nbsp;Shulei Fan ,&nbsp;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
首页 上一页 下一页 尾页
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整，为了账户安全，请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们：info@booksci.cn Book学术提供免费学术资源搜索服务，方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号：604180095
Book学术官方微信