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MAFB-mediated CEBPA regulated human urothelium growth through Wnt/β-catenin signaling pathway MAFB 介导的 CEBPA 通过 Wnt/β-catenin 信号通路调控人尿路细胞的生长
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2024-09-13 DOI: 10.1016/j.gendis.2024.101432
Zhenmin Liu , Xingguo Luo , Zhicheng Zhang , Qiang Zhang , Chong Wang , Hongsong Chen , Chunlan Long , Xing Liu , Guanghui Wei
{"title":"MAFB-mediated CEBPA regulated human urothelium growth through Wnt/β-catenin signaling pathway","authors":"Zhenmin Liu ,&nbsp;Xingguo Luo ,&nbsp;Zhicheng Zhang ,&nbsp;Qiang Zhang ,&nbsp;Chong Wang ,&nbsp;Hongsong Chen ,&nbsp;Chunlan Long ,&nbsp;Xing Liu ,&nbsp;Guanghui Wei","doi":"10.1016/j.gendis.2024.101432","DOIUrl":"10.1016/j.gendis.2024.101432","url":null,"abstract":"<div><div>MAFB is essential for regulating male-type urethral differentiation, and especially, its variation can contribute to hypospadias in mice. However, the potential mechanism is still unclear. Here we observed that the basic leucine zipper (bZIP) transcription factor MAFB and CCAAT/enhancer-binding protein alpha (CEBPA) could promote human urothelium SV-HUC-1 growth. Moreover, MAFB and CEBPA expression were reduced in the prepuce tissues of hypospadias patients. Based on transcriptome sequencing analysis and Western blot, MAFB knockdown was found to suppress CEBPA protein expression and repress Wnt/β-catenin signaling in urothelium cells. Meanwhile, we observed blocked cell-cycle progression from the G1 to the S phase, inhibited cell proliferation, and activated apoptosis. Furthermore, MAFB could facilitate CEBPA transcription and regulate the proliferation of urothelium. The above results indicated that MAFB-mediated inhibition of urothelial SV-HUC-1 growth resulted from inhibiting the Wnt/β-catenin signaling pathway by down-regulating CEBPA. Our findings provide new insight into the understanding of genes associated with hypospadias and the pathogenic mechanism of this disorder.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 1","pages":"Article 101432"},"PeriodicalIF":6.9,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142258075","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
Triplet therapy overcomes 3rd-EGFR TKI-resistant EGFR-L858R/T790M/C797S in trans and in cis/L718Q mutation 三联疗法可克服第三代表皮生长因子受体TKI耐药的表皮生长因子受体-L858R/T790M/C797S反式和顺式/L718Q突变
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2024-09-07 DOI: 10.1016/j.gendis.2024.101408
Kaibo Ding, Zhongsheng Peng, Yanjun Xu
{"title":"Triplet therapy overcomes 3rd-EGFR TKI-resistant EGFR-L858R/T790M/C797S in trans and in cis/L718Q mutation","authors":"Kaibo Ding,&nbsp;Zhongsheng Peng,&nbsp;Yanjun Xu","doi":"10.1016/j.gendis.2024.101408","DOIUrl":"10.1016/j.gendis.2024.101408","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 2","pages":"Article 101408"},"PeriodicalIF":6.9,"publicationDate":"2024-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142198704","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
Unique presentation of a novel gain-of-function mutation in MTOR MTOR新型功能增益突变的独特表现形式
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2024-09-02 DOI: 10.1016/j.gendis.2024.101405
Samira Slimani, Alex G.I. Gagnon, Simon V. Schreiber, Nicolas A.D. Bergeron, Ludwig Haydock, Sébastien Labonté, Marc-Étienne Huot, Alexandre P. Garneau, Guillaume Canaud, Paul Isenring
{"title":"Unique presentation of a novel gain-of-function mutation in MTOR","authors":"Samira Slimani,&nbsp;Alex G.I. Gagnon,&nbsp;Simon V. Schreiber,&nbsp;Nicolas A.D. Bergeron,&nbsp;Ludwig Haydock,&nbsp;Sébastien Labonté,&nbsp;Marc-Étienne Huot,&nbsp;Alexandre P. Garneau,&nbsp;Guillaume Canaud,&nbsp;Paul Isenring","doi":"10.1016/j.gendis.2024.101405","DOIUrl":"10.1016/j.gendis.2024.101405","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 2","pages":"Article 101405"},"PeriodicalIF":6.9,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142198707","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
CARM1 accelerates the growth of liver cancer cells by enhancing ARAF CARM1 通过增强 ARAF 加速肝癌细胞的生长
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2024-08-23 DOI: 10.1016/j.gendis.2024.101395
Xiaoxue Jiang , Libo Xing , Yi Lu , Rushi Qin , Liyan Wang , Shuting Song , Xinlei Liu , Sijie Xie , Shujie Li , Dongdong Lu
{"title":"CARM1 accelerates the growth of liver cancer cells by enhancing ARAF","authors":"Xiaoxue Jiang ,&nbsp;Libo Xing ,&nbsp;Yi Lu ,&nbsp;Rushi Qin ,&nbsp;Liyan Wang ,&nbsp;Shuting Song ,&nbsp;Xinlei Liu ,&nbsp;Sijie Xie ,&nbsp;Shujie Li ,&nbsp;Dongdong Lu","doi":"10.1016/j.gendis.2024.101395","DOIUrl":"10.1016/j.gendis.2024.101395","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 1","pages":"Article 101395"},"PeriodicalIF":6.9,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142198716","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
TMEM132E ablation suppresses tumor progression and restores tamoxifen sensitivity by inducing ERα expression in triple-negative breast cancer 通过诱导三阴性乳腺癌中ERα的表达,TMEM132E消融可抑制肿瘤进展并恢复他莫昔芬的敏感性
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2024-08-23 DOI: 10.1016/j.gendis.2024.101396
Shang Gao , Ping Sun , Zekun Wang , Yecheng Jin , Wenjie Sun , Xi Li , Ruonan Duan , Jiangxia Li , Qiji Liu
{"title":"TMEM132E ablation suppresses tumor progression and restores tamoxifen sensitivity by inducing ERα expression in triple-negative breast cancer","authors":"Shang Gao ,&nbsp;Ping Sun ,&nbsp;Zekun Wang ,&nbsp;Yecheng Jin ,&nbsp;Wenjie Sun ,&nbsp;Xi Li ,&nbsp;Ruonan Duan ,&nbsp;Jiangxia Li ,&nbsp;Qiji Liu","doi":"10.1016/j.gendis.2024.101396","DOIUrl":"10.1016/j.gendis.2024.101396","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 2","pages":"Article 101396"},"PeriodicalIF":6.9,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142198714","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
Corrigendum to ‘CRISPR/Cas9 system and its applications in nervous system diseases’ [Genes & Diseases 11 (2024) 675–686] CRISPR/Cas9 系统及其在神经系统疾病中的应用"[《基因与疾病》11 (2024) 675-686] 更正
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2024-08-19 DOI: 10.1016/j.gendis.2024.101392
Haibin Jiang , Mengyan Tang , Zidi Xu , Yanan Wang , Mopu Li , Shuyin Zheng , Jianghu Zhu , Zhenlang Lin , Min Zhang
{"title":"Corrigendum to ‘CRISPR/Cas9 system and its applications in nervous system diseases’ [Genes & Diseases 11 (2024) 675–686]","authors":"Haibin Jiang ,&nbsp;Mengyan Tang ,&nbsp;Zidi Xu ,&nbsp;Yanan Wang ,&nbsp;Mopu Li ,&nbsp;Shuyin Zheng ,&nbsp;Jianghu Zhu ,&nbsp;Zhenlang Lin ,&nbsp;Min Zhang","doi":"10.1016/j.gendis.2024.101392","DOIUrl":"10.1016/j.gendis.2024.101392","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"11 6","pages":"Article 101392"},"PeriodicalIF":6.9,"publicationDate":"2024-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352304224001892/pdfft?md5=c910765c36207473a3c635a7466d2401&pid=1-s2.0-S2352304224001892-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142129469","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
NOP56 promotes hepatocellular carcinoma progression through 2′-O-methylation ANOP56 通过 2′-O-甲基化促进肝细胞癌进展
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2024-08-08 DOI: 10.1016/j.gendis.2024.101387
Shuxin Yang , Juan Liu , Shengxin Luo , Wentao Wang , Jingxiang Xu
{"title":"NOP56 promotes hepatocellular carcinoma progression through 2′-O-methylation","authors":"Shuxin Yang ,&nbsp;Juan Liu ,&nbsp;Shengxin Luo ,&nbsp;Wentao Wang ,&nbsp;Jingxiang Xu","doi":"10.1016/j.gendis.2024.101387","DOIUrl":"10.1016/j.gendis.2024.101387","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 2","pages":"Article 101387"},"PeriodicalIF":6.9,"publicationDate":"2024-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142198745","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
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 ,&nbsp;Wenqing Liu ,&nbsp;Rongmei Qu ,&nbsp;Jinhui Zhu ,&nbsp;Yulian Shi ,&nbsp;Jiaxuan Liu ,&nbsp;Xiangtian Li ,&nbsp;Zhitao Zhou ,&nbsp;Yunbing Chang ,&nbsp;Jun Ouyang ,&nbsp;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
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 ,&nbsp;Yuting Liu ,&nbsp;Wei Jiang ,&nbsp;Yu Song ,&nbsp;Yongxin Zou ,&nbsp;Molin Wang ,&nbsp;Qiao Liu ,&nbsp;Gongping Sun ,&nbsp;Yaoqin Gong ,&nbsp;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
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 ,&nbsp;Guifang Huang ,&nbsp;Hongyu Wei ,&nbsp;Wenwei Li ,&nbsp;Houfeng Huang ,&nbsp;Yuling Qiu ,&nbsp;Hengying Zhu ,&nbsp;Huifeng Han ,&nbsp;Ping Chen ,&nbsp;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
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