Genes & Diseases最新文献_第4页

CMTM3 promotes adipocyte differentiation by regulating PPARγ in 3T3-L1 cells CMTM3通过调节3T3-L1细胞中的PPARγ促进脂肪细胞分化

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-05-30 DOI: 10.1016/j.gendis.2025.101699

Yanni Zhao , Meiyu Piao , Yuankuan Li , Sung Ho Lee , Seung-Joo Nho , Yujian Jin , Chang-Yeol Yeo , Kwang Youl Lee

引用次数: 0

Galectin-3 in tumor-stromal cells enhances gemcitabine resistance in pancreatic adenocarcinoma by suppressing oxidative phosphorylation 肿瘤基质细胞中的半乳糖凝集素-3通过抑制氧化磷酸化增强胰腺癌患者对吉西他滨的耐药性

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-05-29 DOI: 10.1016/j.gendis.2025.101702

Yaheng Wu , Guo An , Jia Tong , Wenlong Zhang , Zhihua Tian , Bin Dong , Xijuan Liu , Lin Zhao , Chunxiang Ye , Jingtao Liu , Wei Zhao , Huachong Ma

{"title":"Galectin-3 in tumor-stromal cells enhances gemcitabine resistance in pancreatic adenocarcinoma by suppressing oxidative phosphorylation","authors":"Yaheng Wu , Guo An , Jia Tong , Wenlong Zhang , Zhihua Tian , Bin Dong , Xijuan Liu , Lin Zhao , Chunxiang Ye , Jingtao Liu , Wei Zhao , Huachong Ma","doi":"10.1016/j.gendis.2025.101702","DOIUrl":"10.1016/j.gendis.2025.101702","url":null,"abstract":"<div><div>Galectin-3 (Gal-3) plays a multifaceted role in the development and progression of pancreatic adenocarcinoma (PAAD), which is associated with a poor prognosis. Its interaction with tumor microenvironment cells has been reported. However, the Gal-3-mediated tumor–stromal interaction and induced energy metabolism associated with drug resistance remain unknown. Our previous study has reported that Gal-3 secretion from tumor cells and inflammatory cytokine dependency are therapeutic targets. In this study, we revealed that the expression of Gal-3 was not only remarkably up-regulated in tumors but also significantly associated with the tumor-associated fibroblasts of PAAD patients. A coculture model of PAAD cells and pancreatic stellate cells revealed that Gal-3 mediated the Ca<sup>2+</sup>/−calcineurin–NFAT pathway to increase the transcription of CCL2 and BSG in tumor-associated fibroblasts. These findings ultimately lead to the observation of low energy metabolism in tumor cells. Particularly, mitochondrial oxidative phosphorylation was functionally arrested in Gal-3-high tumor cells, as demonstrated by a lower oxygen consumption rate and mitochondrial ATP production through abnormal mitochondrial morphology. The inhibition of the CCL2-CCR2 and PPIA-BSG pathways indicated the restoration of gemcitabine sensitivity when drug resistance was elicited by Gal-3. Oral administration of the natural Gal-3 inhibitor modified citrus pectin extract (MCP) showed therapeutic effect for Gal-3-activated tumors and stromal cells in orthotopic pancreatic xenograft models. Hence, our findings offer insights into the fact that low mitochondrial metabolism is dependent on Gal-3 activation-mediated gemcitabine resistance through tumor–stromal interactions.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 5","pages":"Article 101702"},"PeriodicalIF":6.9,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144297400","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

Investigation of the temporal distribution of anti-VEGF drugs in the retina and the correlation with the distribution of FcR isoforms 抗vegf药物在视网膜的时间分布及其与FcR亚型分布的相关性研究

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-05-28 DOI: 10.1016/j.gendis.2025.101698

Jicai He , Yanping Jiang , Rongqin Yang , Ziwen Lu , Zhihuan Li , Zhigang Tu

引用次数: 0

METTL3 promotes esophageal squamous cell carcinoma progression and reduces chemosensitivity to paclitaxel through the CASP9/BIRC3-dependent apoptosis pathway METTL3通过CASP9/ birc3依赖的凋亡途径促进食管鳞状细胞癌的进展并降低对紫杉醇的化疗敏感性

IF 9.4 2区医学

Genes & Diseases Pub Date : 2025-05-27 DOI: 10.1016/j.gendis.2025.101693

Pengxiang Ji , Bo Wan , Minghui Gao , Shaohua Yin , Han Wu , Junjie Wang , Yuting Ma , Weihua Xu , Minghua Wang

引用次数: 0

LINC00431 modulates KRAS and p53 stability to drive pancreatic cancer progression under hypoxia LINC00431调节KRAS和p53稳定性，在缺氧条件下驱动胰腺癌进展

IF 9.4 2区医学

Genes & Diseases Pub Date : 2025-05-27 DOI: 10.1016/j.gendis.2025.101696

Zhiwei Cai , Meng Liu , Weiyi Wang , Hongfei Yao , Shuo Yang , Chunjing Li , Xiao Hu , Yunlong Pu , Jianxia Ma , Chongyi Jiang

引用次数: 0

An in-depth analysis of the prognostic significance and potential clinical impact of Leupaxin in the immunotherapeutic treatment of esophageal squamous cell carcinoma 深入分析Leupaxin在食管鳞状细胞癌免疫治疗中的预后意义及潜在临床影响

IF 9.4 2区医学

Genes & Diseases Pub Date : 2025-05-27 DOI: 10.1016/j.gendis.2025.101695

Fei Teng , Yang Chen , Xiaojuan Zhang , Hai-Ke Lei , Mei He , Wei Wang , Zhi-Qiang Wang , Gui-Xue Wang

引用次数: 0

Genetics, epidemiology and management of clubfoot and related disorders 内翻足及相关疾病的遗传学、流行病学和管理

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-05-17 DOI: 10.1016/j.gendis.2025.101690

Muhammad Umar , Liping Tong , Hongting Jin , Tamas Terebessy , Di Chen

{"title":"Genetics, epidemiology and management of clubfoot and related disorders","authors":"Muhammad Umar , Liping Tong , Hongting Jin , Tamas Terebessy , Di Chen","doi":"10.1016/j.gendis.2025.101690","DOIUrl":"10.1016/j.gendis.2025.101690","url":null,"abstract":"<div><div>Clubfoot, medically termed congenital talipes equinovarus (CTEV), is a prevalent musculoskeletal birth defect, affecting approximately 0.3% of all live births. This serious congenital anomaly results from structural abnormalities in the foot and lower leg, leading to abnormal positioning of the ankle and foot joints. This review provides a comprehensive overview of the causative factors associated with CTEV and evaluates current therapeutic approaches. Although variations in genes encoding contractile proteins of skeletal myofibers have been proposed as contributors to the etiology of CTEV, no definitive candidate genes have been conclusively linked to increased risk. However, genes such as <em>TBX4</em>, <em>PITX1</em>, and members of the <em>HOXA, HOXC</em>, and <em>HOXD</em> clusters, as well as <em>NAT2</em>, have been implicated in the condition’s development, playing critical roles in limb development, muscle formation, and tissue differentiation. Also, Axin1 plays a key role in joint formation and skeletal development by inhibiting β-catenin-BMP signaling. It could significantly serve as a therapeutic target for fibular hemimelia and multiple synostoses syndrome. The exact mechanisms and the extent of their physical and genetic interactions remain subjects of ongoing research. Understanding the genetic determinants and cellular pathways involved in CTEV is crucial for unravelling the pathophysiology of this complex deformity.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 6","pages":"Article 101690"},"PeriodicalIF":6.9,"publicationDate":"2025-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144704369","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

Upregulated Krüppel-like factor 5 promotes hepatocellular carcinoma progression by activating Wnt3a signaling kr<s:1> ppel样因子5的上调通过激活Wnt3a信号通路促进肝细胞癌的进展

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-05-15 DOI: 10.1016/j.gendis.2025.101685

Wenli Sai , Jie Yang , Liwei Qiu , Min Xu , Min Yao , Dengfu Yao

引用次数: 0

ADAMTS2: More than a procollagen N-proteinase ADAMTS2：比前胶原n -蛋白酶多

IF 9.4 2区医学

Genes & Diseases Pub Date : 2025-05-13 DOI: 10.1016/j.gendis.2025.101686

Ruben Vanlerberghe , Alain Colige , Anne-Marie Malfait , Delfien Syx , Fransiska Malfait

{"title":"ADAMTS2: More than a procollagen N-proteinase","authors":"Ruben Vanlerberghe , Alain Colige , Anne-Marie Malfait , Delfien Syx , Fransiska Malfait","doi":"10.1016/j.gendis.2025.101686","DOIUrl":"10.1016/j.gendis.2025.101686","url":null,"abstract":"<div><div>A disintegrin and metalloproteinase with thrombospondin motifs 2 (ADAMTS2) is a member of the ADAMTS zinc metalloproteinase family, best known for its role as a procollagen I N-proteinase in the maturation of fibrillar collagens. Biallelic defects in the <em>ADAMTS2</em> gene<em>,</em> resulting in a loss of ADAMTS2 enzyme activity and consequent retention of N-propeptides in type I procollagen molecules, lead to the rare monogenic disease Ehlers-Danlos syndrome dermatosparaxis type (dEDS) in humans, and dermatosparaxis in animals, conditions that are hallmarked by extreme fragility of the skin and other soft connective tissues. Recent studies have expanded the substrate repertoire of ADAMTS2 considerably, revealing its potential implication in several biological processes, including angiogenesis, lymphangiogenesis, neurodevelopment, immunity, and spermatogenesis. There is also emerging evidence for a role for ADAMTS2 in complex disorders, including cancer and cardiovascular and neurodegenerative disease. These findings may not only provide answers to hitherto unsolved questions in dermatosparaxis but also unveil a therapeutic and/or biomarker potential of ADAMTS2 in many diseases. This narrative review provides an in-depth overview of the discovery, structure, regulation, and enzymatic role of ADAMTS2, its role in fibrillar collagen maturation and in dEDS pathogenesis, as well as its newly discovered substrates and its potential role in complex disorders.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 6","pages":"Article 101686"},"PeriodicalIF":9.4,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144830426","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

circ-miR-524 accelerates the growth of liver cancer cells by inducing DNA damage repair through K-RAS circ-miR-524通过K-RAS诱导DNA损伤修复，从而加速肝癌细胞的生长

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-05-08 DOI: 10.1016/j.gendis.2025.101675

Yanan Lu , Dongdong Lu

引用次数: 0