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The same genomic variants in the first three exons of KANSL1 can be either benign or causative of Koolen-de Vries syndrome: Definition of a validation procedure KANSL1前三个外显子的相同基因组变异可能是Koolen-de - Vries综合征的良性或致病因素：验证程序的定义
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2025-01-27 DOI: 10.1016/j.gendis.2025.101546
Federica Francesca L'Erario , Giuseppe Marangi , Anna Gloria Renzi , Marina Carapelle , Paolo Niccolò Doronzio , Domizia Pasquetti , Sabrina Maietta , Elena Sonnini , Annalisa Gazzellone , Marcella Zollino
{"title":"The same genomic variants in the first three exons of KANSL1 can be either benign or causative of Koolen-de Vries syndrome: Definition of a validation procedure","authors":"Federica Francesca L'Erario , Giuseppe Marangi , Anna Gloria Renzi , Marina Carapelle , Paolo Niccolò Doronzio , Domizia Pasquetti , Sabrina Maietta , Elena Sonnini , Annalisa Gazzellone , Marcella Zollino","doi":"10.1016/j.gendis.2025.101546","DOIUrl":"10.1016/j.gendis.2025.101546","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 6","pages":"Article 101546"},"PeriodicalIF":6.9,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144670259","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 ,&nbsp;Yan Xie ,&nbsp;Shun Wang ,&nbsp;Moxuan Gong ,&nbsp;Zheping Chen ,&nbsp;Chuanxin Wang ,&nbsp;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
Welander distal myopathy-associated TIA1 mutation exacerbates P-body and stress granule dynamics concomitant with nucleolar stress under oxidative stress Welander远端肌病相关TIA1突变加剧了氧化应激下伴随核仁应激的p体和应激颗粒动力学
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2025-01-23 DOI: 10.1016/j.gendis.2025.101543
Beatriz Ramos Velasco, José Alcalde, José M. Izquierdo
{"title":"Welander distal myopathy-associated TIA1 mutation exacerbates P-body and stress granule dynamics concomitant with nucleolar stress under oxidative stress","authors":"Beatriz Ramos Velasco,&nbsp;José Alcalde,&nbsp;José M. Izquierdo","doi":"10.1016/j.gendis.2025.101543","DOIUrl":"10.1016/j.gendis.2025.101543","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 6","pages":"Article 101543"},"PeriodicalIF":6.9,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144679529","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
Genetic complexity underlies clinical heterogeneity: YWTD β-propeller mutations and second-hit modifier mutations in LRP6-related tooth agenesis and ectodermal dysplasia in human 遗传复杂性是临床异质性的基础：人类lrp6相关牙齿发育和外胚层发育不良的YWTD β-推进器突变和二击修饰子突变
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2025-01-22 DOI: 10.1016/j.gendis.2025.101541
Xinxin Dong , Miao Yu , Zhaoyang Jia , Jinye Bai , Jing Zhang , Shengnan Ling , Limin Guan , Yi Lu , Dong Han , Xiwen Gu
{"title":"Genetic complexity underlies clinical heterogeneity: YWTD β-propeller mutations and second-hit modifier mutations in LRP6-related tooth agenesis and ectodermal dysplasia in human","authors":"Xinxin Dong ,&nbsp;Miao Yu ,&nbsp;Zhaoyang Jia ,&nbsp;Jinye Bai ,&nbsp;Jing Zhang ,&nbsp;Shengnan Ling ,&nbsp;Limin Guan ,&nbsp;Yi Lu ,&nbsp;Dong Han ,&nbsp;Xiwen Gu","doi":"10.1016/j.gendis.2025.101541","DOIUrl":"10.1016/j.gendis.2025.101541","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 6","pages":"Article 101541"},"PeriodicalIF":6.9,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144597077","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 multi-omic integrative approach combining m6A-epitranscriptomic, transcriptomic, and splicing alternative events reveals potential candidates for colorectal cancer diagnosis 一种结合m6a表转录组学、转录组学和剪接替代事件的多组学综合方法揭示了结直肠癌诊断的潜在候选物
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2025-01-22 DOI: 10.1016/j.gendis.2025.101537
Hatim Boughanem , Jesus Pilo , Alejandro Rego , Libia Ajendra Garcia-Flores , Teresa Dawid-de Vera , Francisco J. Tinahones , Gracia Maria Martin-Nuñez , Manuel Macias-González
{"title":"A multi-omic integrative approach combining m6A-epitranscriptomic, transcriptomic, and splicing alternative events reveals potential candidates for colorectal cancer diagnosis","authors":"Hatim Boughanem ,&nbsp;Jesus Pilo ,&nbsp;Alejandro Rego ,&nbsp;Libia Ajendra Garcia-Flores ,&nbsp;Teresa Dawid-de Vera ,&nbsp;Francisco J. Tinahones ,&nbsp;Gracia Maria Martin-Nuñez ,&nbsp;Manuel Macias-González","doi":"10.1016/j.gendis.2025.101537","DOIUrl":"10.1016/j.gendis.2025.101537","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 6","pages":"Article 101537"},"PeriodicalIF":6.9,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144580659","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
{"title":"VEXAS syndrome caused by a UBA1 mutation is complicated by recurrent infections leading to hemophagocytic lymphohistiocytosis","authors":"Yu Tang,&nbsp;Hongfei Cui,&nbsp;Hongjun Zhao,&nbsp;Hui Luo,&nbsp;Xiaoxia Zuo,&nbsp;Junjiao Wu","doi":"10.1016/j.gendis.2025.101540","DOIUrl":"10.1016/j.gendis.2025.101540","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 5","pages":"Article 101540"},"PeriodicalIF":6.9,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143902499","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 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
{"title":"A causal association between immune cells and hypertrophic cardiomyopathy: A bidirectional Mendelian randomization study","authors":"Fang He ,&nbsp;Qiangzhong Pi ,&nbsp;Jun Yang ,&nbsp;Mengning Wan ,&nbsp;Jiang Yu ,&nbsp;Ding Yang ,&nbsp;Yongzheng Guo ,&nbsp;Xiaorong Li","doi":"10.1016/j.gendis.2025.101539","DOIUrl":"10.1016/j.gendis.2025.101539","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 4","pages":"Article 101539"},"PeriodicalIF":6.9,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143724445","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
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
{"title":"The epigenetic regulatory network of long noncoding RNAs in hepatocellular carcinoma","authors":"Zhaoqi Shi ,&nbsp;Shengxi Jin ,&nbsp;Xiaolong Liu ,&nbsp;Mengting Jiang ,&nbsp;Yifeng Fang ,&nbsp;Parikshit Asutosh Khadaroo ,&nbsp;Hui Lin ,&nbsp;Xiaoxiao Fan","doi":"10.1016/j.gendis.2025.101534","DOIUrl":"10.1016/j.gendis.2025.101534","url":null,"abstract":"<div><div>Long noncoding RNAs (lncRNAs) are endogenous noncoding RNAs exceeding 200 bases in length that are prevalent in malignant tumors and are closely associated with the onset and progression of hepatocellular carcinoma. The synthesis of lncRNAs exhibits similarities to that of protein-coding transcripts, which is regulated by epigenetic modifications. Recent research has highlighted the significant regulatory role of epigenetic modifications in the transcription of lncRNA genes in hepatocellular carcinoma. This review outlines the impact of epigenetic modifications, including DNA methylation, histone modification (methylation and acetylation), RNA modification, and microRNAs on the transcription of lncRNA genes in hepatocellular carcinoma and delves into the underlying mechanisms by summarizing how these lncRNA genes contribute to the development and progression of hepatocellular carcinoma.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 5","pages":"Article 101534"},"PeriodicalIF":6.9,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144271406","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
The lack of homozygotes with a large deletion encompassing SPAG1 and POLR2K in primary ciliary dyskinesia patients suggests the lethal effect of the loss of POLR2K protein 原发性纤毛运动障碍患者缺乏包含SPAG1和POLR2K大缺失的纯合子，这表明POLR2K蛋白缺失具有致命作用
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2025-01-20 DOI: 10.1016/j.gendis.2025.101535
Alicja Rabiasz, Monika Drobna-Śledzińska, Patrycja Kaźmierczak, Michał Witt , Ewa Ziętkiewicz
{"title":"The lack of homozygotes with a large deletion encompassing SPAG1 and POLR2K in primary ciliary dyskinesia patients suggests the lethal effect of the loss of POLR2K protein","authors":"Alicja Rabiasz,&nbsp;Monika Drobna-Śledzińska,&nbsp;Patrycja Kaźmierczak,&nbsp;Michał Witt ,&nbsp;Ewa Ziętkiewicz","doi":"10.1016/j.gendis.2025.101535","DOIUrl":"10.1016/j.gendis.2025.101535","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 6","pages":"Article 101535"},"PeriodicalIF":6.9,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144704367","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
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 ,&nbsp;Qiu Peng ,&nbsp;Linda Oyang ,&nbsp;Shiming Tan ,&nbsp;Xianjie Jiang ,&nbsp;Zongyao Ren ,&nbsp;Xuemeng Xu ,&nbsp;Mengzhou Shen ,&nbsp;Haofan Li ,&nbsp;Mingjing Peng ,&nbsp;Longzheng Xia ,&nbsp;Wenjuan Yang ,&nbsp;Shizhen Li ,&nbsp;Jiewen Wang ,&nbsp;Yaqian Han ,&nbsp;Nayiyuan Wu ,&nbsp;Yanyan Tang ,&nbsp;Jinguan Lin ,&nbsp;Qianjin Liao ,&nbsp;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
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