Genes & Diseases最新文献_第4页

Genetically predicted blood metabolites mediate the association between immune cell characteristics and urolithiasis: A Mendelian randomization study and mediation analysis 遗传预测的血液代谢物介导免疫细胞特征和尿石症之间的关联：孟德尔随机研究和中介分析

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-01-28 DOI: 10.1016/j.gendis.2025.101547

Chengcheng Wei , Jiatai He , Jun Wen , Shunyao Wang , Mengjia Shi , Juan Hu , Huanhuan Tan , Jinjun Guo , Xiaosong Li

{"title":"Genetically predicted blood metabolites mediate the association between immune cell characteristics and urolithiasis: A Mendelian randomization study and mediation analysis","authors":"Chengcheng Wei , Jiatai He , Jun Wen , Shunyao Wang , Mengjia Shi , Juan Hu , Huanhuan Tan , Jinjun Guo , Xiaosong Li","doi":"10.1016/j.gendis.2025.101547","DOIUrl":"10.1016/j.gendis.2025.101547","url":null,"abstract":"<div><div>Urolithiasis, a disease characterized by the formation of urinary stones, is influenced by immune system dysregulation and metabolic factors. This study investigated the interplay between specific immune cell characteristics and blood metabolites in urolithiasis based on Mendelian randomization. We further explored the potential mediating effects of genetically predicted blood metabolites based on mediation analysis. We employed a two-sample Mendelian randomization analysis to examine the association between immune cell properties, blood metabolites, and urolithiasis risk. Genetic instruments for immune cell characteristics and blood metabolites were used to assess causal relationships and mediating pathways. Our results indicate that 10 immune cell characteristics had a unidirectional causal association with urolithiasis risk. We also detected 13 blood metabolites associated with urolithiasis. We identified 4 pathways through which genetically predicted blood metabolites partly mediated the association between specific immune cell characteristics and urolithiasis risk. This suggests potential mechanistic links where altered blood metabolites may play a role in developing urolithiasis through immune system modulation. This Mendelian randomization study highlights the complex relationship between immune responses, blood metabolites, and urolithiasis. The findings underscore the importance of considering both immune cell features and metabolic factors in understanding the pathogenesis of urolithiasis, offering insights into novel therapeutic targets and diagnostic strategies for this disorder.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 5","pages":"Article 101547"},"PeriodicalIF":6.9,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144335779","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

Enhancer profiling uncovers Jmjd1c as an essential suppressor in neuropathic pain by targeting Socs3 增强子分析揭示了Jmjd1c通过靶向Socs3在神经性疼痛中发挥重要的抑制作用

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-01-23 DOI: 10.1016/j.gendis.2025.101545

Le Zhang , Yan Xie , Shun Wang , Moxuan Gong , Zheping Chen , Chuanxin Wang , Peilong Li

{"title":"Enhancer profiling uncovers Jmjd1c as an essential suppressor in neuropathic pain by targeting Socs3","authors":"Le Zhang , Yan Xie , Shun Wang , Moxuan Gong , Zheping Chen , Chuanxin Wang , Peilong Li","doi":"10.1016/j.gendis.2025.101545","DOIUrl":"10.1016/j.gendis.2025.101545","url":null,"abstract":"<div><div>Neuropathic pain (NP) is a chronic debilitating disease caused by nerve damage or various diseases, significantly impairs patients’ quality of life. Super-enhancers (SEs) are important cis-regulatory elements, but how they affect NP remains elusive. Therefore, we aim to explore the molecular mechanism by which SEs are involved in NP progression and identify potential drug candidate targets. We first established a NP model in rats, and subsequently performed H3K27ac ChIP-Seq and RNA-Seq on their spinal cord tissues to analyze the active enhancers. By integrated analysis of ChIP-seq data and RNA-seq data, we clarified a series of SE-associated genes involved in NP progression. qPCR and double immunofluorescence staining results suggested that <em>Jmjd1c</em> mRNA and protein levels were significantly down-regulated in the NP model. In addition, a dual-luciferase reporter assay showed that <em>KLF15</em> could activate <em>Jmjd1c</em> transcription by binding to the SE of <em>Jmjd1c</em>. Functionally, enhanced <em>Jmjd1c</em> can inhibit the levels of inflammatory cytokines such as IL-6, TNF-α, IL-1β, and inhibited the progression of NP, whereas silencing <em>Jmjd1c</em> had the opposite effect. Mechanistic exploration identified <em>Jmjd1c</em> exerted its anti-NP effect via positively regulating <em>Socs3</em> expression by increasing the activity of H3K9 demethylation, and the <em>Jmjd1c/Socs3/JAK/STAT3</em> regulatory pathway was finally validated as downstream effectors. In conclusion, our study suggests that SE-associated <em>Jmjd1c</em> was suppressed during NP progression due to the decreased recruitment of <em>KLF15</em>. The reduction of <em>Jmjd1c</em> downregulated <em>Socs3</em> through the demethylation of H3K9 at <em>Socs3</em> promoter region, leading to NP progression.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 5","pages":"Article 101545"},"PeriodicalIF":6.9,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144070350","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

VEXAS syndrome caused by a UBA1 mutation is complicated by recurrent infections leading to hemophagocytic lymphohistiocytosis 由UBA1突变引起的VEXAS综合征并发复发性感染，导致噬血细胞性淋巴组织细胞增多症

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-01-22 DOI: 10.1016/j.gendis.2025.101540

Yu Tang, Hongfei Cui, Hongjun Zhao, Hui Luo, Xiaoxia Zuo, Junjiao Wu

引用次数: 0

A causal association between immune cells and hypertrophic cardiomyopathy: A bidirectional Mendelian randomization study 免疫细胞与肥厚性心肌病之间的因果关系：一项双向孟德尔随机研究

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-01-21 DOI: 10.1016/j.gendis.2025.101539

Fang He , Qiangzhong Pi , Jun Yang , Mengning Wan , Jiang Yu , Ding Yang , Yongzheng Guo , Xiaorong Li

引用次数: 0

The epigenetic regulatory network of long noncoding RNAs in hepatocellular carcinoma 肝癌中长链非编码rna的表观遗传调控网络

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-01-20 DOI: 10.1016/j.gendis.2025.101534

Zhaoqi Shi , Shengxi Jin , Xiaolong Liu , Mengting Jiang , Yifeng Fang , Parikshit Asutosh Khadaroo , Hui Lin , Xiaoxiao Fan

引用次数: 0

Fusion genes in cancers: Biogenesis, functions, and therapeutic implications 融合基因在癌症中的作用：生物发生、功能和治疗意义

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-01-20 DOI: 10.1016/j.gendis.2025.101536

Haiqiong Tang , Qiu Peng , Linda Oyang , Shiming Tan , Xianjie Jiang , Zongyao Ren , Xuemeng Xu , Mengzhou Shen , Haofan Li , Mingjing Peng , Longzheng Xia , Wenjuan Yang , Shizhen Li , Jiewen Wang , Yaqian Han , Nayiyuan Wu , Yanyan Tang , Jinguan Lin , Qianjin Liao , Yujuan Zhou

{"title":"Fusion genes in cancers: Biogenesis, functions, and therapeutic implications","authors":"Haiqiong Tang , Qiu Peng , Linda Oyang , Shiming Tan , Xianjie Jiang , Zongyao Ren , Xuemeng Xu , Mengzhou Shen , Haofan Li , Mingjing Peng , Longzheng Xia , Wenjuan Yang , Shizhen Li , Jiewen Wang , Yaqian Han , Nayiyuan Wu , Yanyan Tang , Jinguan Lin , Qianjin Liao , Yujuan Zhou","doi":"10.1016/j.gendis.2025.101536","DOIUrl":"10.1016/j.gendis.2025.101536","url":null,"abstract":"<div><div>The processes of tumorigenesis and development are intricate, involving numerous genes and molecular pathways. Fusion genes, direct products of abnormal chromosomal rearrangements, are key factors in the formation of many types of tumors. In recent years, the advent of sequencing technology and bioinformatics has led to the discovery of more fusion genes associated with specific types of tumors. The objective of this review is to undertake a comprehensive examination of the discovery and functional mechanisms of fusion genes present in a range of cancers. This will include an analysis of their impact on the biological properties of tumor cells. This review will examine the most prevalent types of fusion genes observed in representative tumor types, including hematological tumors, lung cancer, soft tissue sarcomas, thyroid cancer, and prostate cancer. We provide an overview of the roles and clinical significance of fusion genes, as well as a summarization of the therapeutic strategies for fusion genes, including the application of targeted drugs and related studies. This review presents a comprehensive analysis of the function of fusion genes in the development and treatment of tumors, providing guidance and insights for future research and clinical practice.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 5","pages":"Article 101536"},"PeriodicalIF":6.9,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144279918","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

In vivo consequences of varying degrees of OTOA alteration elucidated using knock-in mouse models and pseudogene contamination-free long-read sequencing 使用敲入小鼠模型和假基因无污染长读测序阐明了不同程度的OTOA改变的体内后果

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-01-18 DOI: 10.1016/j.gendis.2025.101533

Ju Ang Kim , Bong Jik Kim , Chung Lee , Go Hun Seo , Hane Lee , Jin Hee Han , Ava Niazi , Joosang Park , Byung Yoon Choi , Sungjin Park

引用次数: 0

Gene jigsaw: Decrypting the CPAMD8 puzzle in Chinese patients with anterior segment dysgenesis 基因拼图：破解中国前节发育不良患者的camd8谜团

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-01-16 DOI: 10.1016/j.gendis.2025.101523

Yan Liu , Yinuo Wen , Linghao Song , Xinyue Wang , Min Zhang , Zexu Chen , Zhangrui Chen , Nan Yang , Tianhui Chen , Yongxiang Jiang

引用次数: 0

Sirolimus may improve bile excretion in ABCB11 mutants: A case report of a patient with bile salt export pump deficiency 西罗莫司可改善ABCB11突变体的胆汁排泄：胆汁盐出口泵缺乏症1例报告

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-01-15 DOI: 10.1016/j.gendis.2025.101532

Tao Zeng , Jiahui Pang , Yutian Chong , Guofang Tang , Yingying Liao , Xianghao Cai , Xiaolong Xiao , Yibo Zhang , Shuru Chen , Xinhua Li

引用次数: 0

Clinical relevance of loss-of-function mutations of NEMO/IKBKG NEMO/IKBKG功能丧失突变的临床相关性

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-01-12 DOI: 10.1016/j.gendis.2025.101531

Jin Wang , Kexin Shen , Hongxia Lou , Lina Zhou , Yunfei An , Xiaodong Zhao , Yuan Ding

{"title":"Clinical relevance of loss-of-function mutations of NEMO/IKBKG","authors":"Jin Wang , Kexin Shen , Hongxia Lou , Lina Zhou , Yunfei An , Xiaodong Zhao , Yuan Ding","doi":"10.1016/j.gendis.2025.101531","DOIUrl":"10.1016/j.gendis.2025.101531","url":null,"abstract":"<div><div>Dysfunctional inhibitor of nuclear factor-κB (NF-κB) kinase regulatory subunit gamma (<em>IKBKG</em>) is known to trigger incontinentia pigmenti (IP), anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID), immunodeficiency (ID), and <em>IKBKG</em> deleted exon 5 autoinflammatory syndrome (NDAS). The correlation between genotype and phenotype remains elusive because of the considerable variability in <em>IKBKG</em> genes. This study aimed to systematically describe <em>IKBKG</em> gene mutations and clinical characteristics. Cases with <em>IKBKG</em> mutations and thorough clinical features were gathered using PubMed, Web of Science, EMBASE, Scopus, and Cochrane databases, with a publication deadline of February 12, 2023. The Newcastle-Ottawa scale and its modified version were used to assess the quality of each study. Gene mutations and clinical manifestation data were analyzed and reviewed. 144 publications with 564 patients were included in the analysis. IP, EDA-ID, ID, and NDAS accounted for 78.0%, 15.8%, 5.0%, and 1.2% of <em>IKBKG</em> mutations, respectively. Skin abnormalities (89.5%), dental abnormalities (68.5%), infection (100%), and non-infectious inflammation (100%) were the most common manifestations of IP, EDA-ID, ID, and NDAS, respectively. Mutations related to EDA-ID and ID are concentrated in the zinc finger region and characterized by the most severe clinical symptoms. E390RfsX5 can cause IP, EDA-ID, and ID. c.1182_1183delTT and H413R caused the most clinical manifestations. <em>Mycobacterium</em> (22.7%) and <em>Streptococcus</em> (17.5%) were the most common pathogens. Almost all cases of hyper-IgM occurred in patients with EDA-ID. Different structural domains correspond to symptoms with varying degrees of severity. Certain mutations may correspond to unique manifestations, providing insight into disease progression.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 5","pages":"Article 101531"},"PeriodicalIF":6.9,"publicationDate":"2025-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144331140","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