Genes & Diseases最新文献_第2页

Single-cell transcriptome profiling reveals altered neural crest cell dynamics and novel biomarkers in EDNRB mutant mice with Hirschsprung's disease phenotype 单细胞转录组分析揭示了患有巨结肠病表型的EDNRB突变小鼠神经嵴细胞动力学和新的生物标志物的改变

IF 9.4 2区医学

Genes & Diseases Pub Date : 2025-07-08 DOI: 10.1016/j.gendis.2025.101765

Minhao Sun, Jafari Halima, Yidan Li, Jiangtian Su, Ge Yang, Jiajun Guo, Qiwen Yang, Ruihua Dang

引用次数: 0

The role of mitochondria-endoplasmic reticulum crosstalk in colorectal cancer 线粒体-内质网串扰在结直肠癌中的作用

IF 9.4 2区医学

Genes & Diseases Pub Date : 2025-07-08 DOI: 10.1016/j.gendis.2025.101766

Lanshu Xiao , Yao Wei , Yiping Qin , Bianqin Guo

{"title":"The role of mitochondria-endoplasmic reticulum crosstalk in colorectal cancer","authors":"Lanshu Xiao , Yao Wei , Yiping Qin , Bianqin Guo","doi":"10.1016/j.gendis.2025.101766","DOIUrl":"10.1016/j.gendis.2025.101766","url":null,"abstract":"<div><div>Colorectal cancer (CRC) is a significant health burden globally, with the third highest incidence and the second highest mortality among all types of cancer. Understanding the mechanisms underlying CRC progression is crucial for advancing therapeutic strategies. Organelles are essential components of cells and play a critical role in the initiation and progression of cancer. Over the past decades, numerous studies have demonstrated that mitochondria and the endoplasmic reticulum (ER) can communicate through signaling pathways, thereby regulating cellular homeostasis and function in both normal and cancer cells. This interaction primarily occurs through mitochondria-associated endoplasmic reticulum membranes (MAMs). MAMs, as key nodes in cancer initiation and progression, are also potential vulnerabilities of cancer cells, offering promising opportunities for cancer treatment. Recent research further emphasizes the close association between MAMs and CRC in terms of proliferation, apoptosis, and invasion. To deepen our understanding of the interactions and mechanisms between mitochondria and the ER in CRC, this review, for the first time, synthesizes the research advancements concerning the crosstalk between these organelles in CRC. It innovatively identifies potential targets associated with MAMs, aiming to uncover novel therapeutic strategies for CRC.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"13 1","pages":"Article 101766"},"PeriodicalIF":9.4,"publicationDate":"2025-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145155778","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

Non-coding somatic single-nucleotide variations affecting glioblastoma-specific enhancer elements regulate tumor-promoting gene networks 影响胶质母细胞瘤特异性增强元件的非编码体细胞单核苷酸变异调节肿瘤促进基因网络

IF 9.4 2区医学

Genes & Diseases Pub Date : 2025-07-05 DOI: 10.1016/j.gendis.2025.101762

Sandra Iñiguez-Muñoz , Pere Llinàs-Arias , Miquel Ensenyat-Mendez , Andrés F. Bedoya-López , Maria Solivellas-Pieras , Santiago Garfias-Arjona , Mónica Lara-Almúnia , Gabriel Matheu , Ananya Roy , Karin Forsberg-Nilsson , Diego M. Marzese

引用次数: 0

Tirzepatide, a dual GIP/GLP-1 receptor agonist, alleviates metabolic dysfunction-associated steatotic liver disease by reducing the expression of CD36 and OBP2A Tirzepatide是一种双GIP/GLP-1受体激动剂，通过降低CD36和OBP2A的表达来缓解代谢功能障碍相关的脂肪变性肝病

IF 9.4 2区医学

Genes & Diseases Pub Date : 2025-07-03 DOI: 10.1016/j.gendis.2025.101761

Yun Li , Wencong Sun , Hong Liu , Xiong Z. Ruan

{"title":"Tirzepatide, a dual GIP/GLP-1 receptor agonist, alleviates metabolic dysfunction-associated steatotic liver disease by reducing the expression of CD36 and OBP2A","authors":"Yun Li , Wencong Sun , Hong Liu , Xiong Z. Ruan","doi":"10.1016/j.gendis.2025.101761","DOIUrl":"10.1016/j.gendis.2025.101761","url":null,"abstract":"<div><div>Metabolic dysfunction-associated steatotic liver disease (MASLD) is defined by excessive hepatic lipid accumulation. This study evaluated the therapeutic effects and molecular mechanisms of tirzepatide, a dual GIP and GLP-1 receptor agonist, in treating hepatic steatosis. Eight-week-old C57BL/6J mice were fed either a high-fat diet or a high-fat, high-fructose, and high-cholesterol diet for 12 weeks to induce MASLD. From week 8, some mice received weekly intraperitoneal tirzepatide injections for four weeks. Tirzepatide significantly reduced body and liver weight gain. Histological analysis confirmed decreased hepatic vacuolation and lipid deposition. The drug also lowered serum glucose levels and reduced liver triglyceride and cholesterol content without causing liver injury. Transcriptome analysis showed that tirzepatide downregulated mitochondrial oxidative phosphorylation pathways. It also decreased hepatic expression of CD36 and odorant-binding protein 2A, both involved in lipid uptake. Importantly, tirzepatide did not significantly alter other major liver metabolic pathways. In adipose tissue, it reduced CD36 and odorant-binding protein 2A expression and upregulated adipose triglyceride lipase, suggesting enhanced lipolysis. However, it had no effect on CD36 levels in skeletal muscle. These results suggest that tirzepatide may be an effective treatment for MASLD by reducing liver fat accumulation and modulating lipid metabolism in extrahepatic tissues.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 6","pages":"Article 101761"},"PeriodicalIF":9.4,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144830431","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

Single-cell molecular communications and transcriptional regulatory dynamics of T cell immunotherapy in bladder cancer 膀胱癌中T细胞免疫治疗的单细胞分子通讯和转录调控动力学

IF 9.4 2区医学

Genes & Diseases Pub Date : 2025-07-03 DOI: 10.1016/j.gendis.2025.101760

Limin Liu , Xuan Wan , Su Liu , Chenjie Yu , Hongman Xue , Jiayi Wang , Zhu Li , Kai Liu , Chun Chen , Jiajian Wang

引用次数: 0

EGFR A859S alteration may predict a better response to third-generation EGFR-TKI treatment in advanced NSCLC EGFR A859S改变可能预示着晚期NSCLC对第三代EGFR- tki治疗的更好反应

IF 9.4 2区医学

Genes & Diseases Pub Date : 2025-07-02 DOI: 10.1016/j.gendis.2025.101757

Weiping Hong, Wenfan Fu, Ya Ma, Chenxuan Wang, Yang Xu, Jiani Yin, Jiaohui Pang, Qiuxiang Ou, Hua Bao, Jincui Gu, Baoxiu Li

引用次数: 0

The role of m6A methylation in female reproductive physiology and pathology m6A甲基化在女性生殖生理和病理中的作用

IF 9.4 2区医学

Genes & Diseases Pub Date : 2025-07-01 DOI: 10.1016/j.gendis.2025.101755

Jie Ding , Yalun He , Yangshuo Li , Shuai Sun , Wen Cheng , Jiami Huang , Chaoqin Yu

{"title":"The role of m6A methylation in female reproductive physiology and pathology","authors":"Jie Ding , Yalun He , Yangshuo Li , Shuai Sun , Wen Cheng , Jiami Huang , Chaoqin Yu","doi":"10.1016/j.gendis.2025.101755","DOIUrl":"10.1016/j.gendis.2025.101755","url":null,"abstract":"<div><div>N6-methyladenosine (m<sup>6</sup>A) is a critical regulator of female reproductive physiology, yet existing reviews have focused predominantly on oocytes. The objective of this review is to systematically evaluate the regulatory effects of m<sup>6</sup>A throughout the pregnancy process. This review covers aspects such as oocyte maturation, granulosa cell dynamics, endometrial receptivity, immune homeostasis, and systemic adaptations, aiming to demonstrate the comprehensive regulatory capacity of m<sup>6</sup>A in female reproduction. Dysregulated m<sup>6</sup>A modifications in infertility-associated pathologies, including endometriosis, polycystic ovary syndrome, and recurrent miscarriage, are analyzed to identify mechanistic links between an epitranscriptomic imbalance and reproductive dysfunction. The key findings indicate that m<sup>6</sup>A is involved in the entire reproductive process and precisely coordinates stage-specific molecular programs within it, whereas aberrant methylation patterns disrupt gene networks essential for fertility. Notably, m<sup>6</sup>A-modifying enzymes exhibit strong potential as diagnostic biomarkers for female reproductive disorders. The synthesis of the current evidence establishes m<sup>6</sup>A dysregulation as a convergent pathogenic mechanism in diverse infertility etiologies, suggesting that the therapeutic modulation of m<sup>6</sup>A pathways could address unmet clinical needs in reproductive medicine.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"13 1","pages":"Article 101755"},"PeriodicalIF":9.4,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145217176","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

Uncovering stromal cell fate genes and a novel risk stratification in UCEC by integrating single-cell RNA sequencing and multi-omics analysis 通过整合单细胞RNA测序和多组学分析，揭示间质细胞命运基因和UCEC的新风险分层

IF 9.4 2区医学

Genes & Diseases Pub Date : 2025-06-27 DOI: 10.1016/j.gendis.2025.101743

Rulin Zhang , Haonan Ma , Yiting Yang , Siang Lv , Xin Guan , Bingnan Lu , Yuntao Yao , Runzhi Huang , Yifan Liu , Yanhua Du , Jun Wu

引用次数: 0

Regulation of de novo lipogenesis and lipophagy by SP1 gene variants SP1基因变异对新生脂肪生成和脂肪吞噬的调控

IF 9.4 2区医学

Genes & Diseases Pub Date : 2025-06-27 DOI: 10.1016/j.gendis.2025.101722

Soo Yeon Kim, Hyo-Jeong Ban, Siwoo Lee, Hee-Jeong Jin

引用次数: 0

Transcriptional profiling reveals glucose-dependent regulation of COL13A1 mRNA in Pompe patients: Prospect for a novel disease mechanism 转录谱分析揭示了Pompe患者COL13A1 mRNA的葡萄糖依赖性调节：一种新的疾病机制的前景