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In vivo consequences of varying degrees of OTOA alteration elucidated using knock-in mouse models and pseudogene contamination-free long-read sequencing
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
{"title":"In vivo consequences of varying degrees of OTOA alteration elucidated using knock-in mouse models and pseudogene contamination-free long-read sequencing","authors":"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","doi":"10.1016/j.gendis.2025.101533","DOIUrl":"10.1016/j.gendis.2025.101533","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 3","pages":"Article 101533"},"PeriodicalIF":6.9,"publicationDate":"2025-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143103713","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
Integrated multi-omics characterization of neuroblastoma with bone or bone marrow metastasis 神经母细胞瘤骨转移或骨髓转移的多组学综合表征
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2025-01-03 DOI: 10.1016/j.gendis.2024.101511
Kai Huang , Linyu Yang , Yue Ma, Lijian Cao, Suwen Li, Zhenzhen Zhao, Jianwu Zhou, Shan Wang
{"title":"Integrated multi-omics characterization of neuroblastoma with bone or bone marrow metastasis","authors":"Kai Huang ,&nbsp;Linyu Yang ,&nbsp;Yue Ma,&nbsp;Lijian Cao,&nbsp;Suwen Li,&nbsp;Zhenzhen Zhao,&nbsp;Jianwu Zhou,&nbsp;Shan Wang","doi":"10.1016/j.gendis.2024.101511","DOIUrl":"10.1016/j.gendis.2024.101511","url":null,"abstract":"<div><div>The pathogenesis of neuroblastoma with bone or bone marrow metastasis (NB-BBM) and its complex immune microenvironment remain poorly elucidated, hampering the advancement of effective risk prediction for BBM and limiting therapeutic strategies. Feature recognition of 142 paraffin-embedded hematoxylin-eosin-stained tumor section images was conducted using a Swin-Transformer for pathological histology to predict NB-BBM occurrence. Single-cell transcriptomics identified a tumor cell subpopulation (NB3) and two tumor-associated macrophage (TAM) subpopulations (SPP1<sup>+</sup> TAMs and IGHM<sup>+</sup> TAMs) closely associated with BBM and highlighted transketolase (TKT) as a key molecular marker for metastatic progression in NB. This extensive multi-omics investigation into NB-BBM enhances our understanding of single-cell transcriptional dynamics in NB beyond existing research, outlining the evolution from <em>in situ</em> carcinoma through tumorigenesis to bone marrow metastases. Furthermore, exploration of the immune microenvironment identified specific subpopulations of TAMs crucial in promoting NB-BBM, presenting new avenues for immunotherapy. These insights enhance our understanding of the metastatic process from NB to BBM and facilitate the development of more effective diagnostic and therapeutic strategies for this aggressive pediatric cancer.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 3","pages":"Article 101511"},"PeriodicalIF":6.9,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143464631","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 role of lncRNAs in AKI and CKD: Molecular mechanisms, biomarkers, and potential therapeutic targets lncRNA 在 AKI 和 CKD 中的作用：分子机制、生物标记物和潜在治疗靶点
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2024-12-30 DOI: 10.1016/j.gendis.2024.101509
Minhui Zheng , Zixuan Yang , Lei Shi , Liyuan Zhao , Kelan Liu , Naping Tang
{"title":"The role of lncRNAs in AKI and CKD: Molecular mechanisms, biomarkers, and potential therapeutic targets","authors":"Minhui Zheng ,&nbsp;Zixuan Yang ,&nbsp;Lei Shi ,&nbsp;Liyuan Zhao ,&nbsp;Kelan Liu ,&nbsp;Naping Tang","doi":"10.1016/j.gendis.2024.101509","DOIUrl":"10.1016/j.gendis.2024.101509","url":null,"abstract":"<div><div>Exosomes, a type of extracellular vesicle, are commonly found in different body fluids and are rich in nucleic acids (circRNA, lncRNAs, miRNAs, mRNAs, tRNAs, <em>etc</em>.), proteins, and lipids. They are involved in intercellular communication. lncRNAs are responsible for the modulation of gene expression, thus affecting the pathological process of kidney injury. This review summarizes the latest knowledge on the roles of exosome lncRNAs and circulating lncRNAs in the pathogenesis, biomarker discovery, and treatment of chronic kidney disease, renal fibrosis, and acute kidney injury, providing an overview of novel regulatory approaches and lncRNA delivery systems.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 3","pages":"Article 101509"},"PeriodicalIF":6.9,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143464629","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 BCAT1 inhibitor bufalin sensitizes pancreatic cancer cells to chemotherapy
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2024-12-24 DOI: 10.1016/j.gendis.2024.101503
Wei Zhang , Yibao Fan , Milad Ashrafizadeh , Dan Shi , Gautam Sethi , Yavuz Nuri Ertas , A.M. Abd El-Aty , Xianbin Zhang , Si Chen , Peng Gong
{"title":"A novel BCAT1 inhibitor bufalin sensitizes pancreatic cancer cells to chemotherapy","authors":"Wei Zhang ,&nbsp;Yibao Fan ,&nbsp;Milad Ashrafizadeh ,&nbsp;Dan Shi ,&nbsp;Gautam Sethi ,&nbsp;Yavuz Nuri Ertas ,&nbsp;A.M. Abd El-Aty ,&nbsp;Xianbin Zhang ,&nbsp;Si Chen ,&nbsp;Peng Gong","doi":"10.1016/j.gendis.2024.101503","DOIUrl":"10.1016/j.gendis.2024.101503","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 3","pages":"Article 101503"},"PeriodicalIF":6.9,"publicationDate":"2024-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143092041","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
Allele-specific methylation of the PSA promoter in prostate cells: A new translational marker for the differential diagnosis of prostate cancer
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2024-12-09 DOI: 10.1016/j.gendis.2024.101487
Mikhail Baryshev, Irina Maksimova, Ilona Sasoveca
{"title":"Allele-specific methylation of the PSA promoter in prostate cells: A new translational marker for the differential diagnosis of prostate cancer","authors":"Mikhail Baryshev,&nbsp;Irina Maksimova,&nbsp;Ilona Sasoveca","doi":"10.1016/j.gendis.2024.101487","DOIUrl":"10.1016/j.gendis.2024.101487","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 3","pages":"Article 101487"},"PeriodicalIF":6.9,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143172245","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
Novel compound heterozygous TTN gene variants with additional potential contributory mutations in two sisters with severe scoliosis: A case report
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2024-12-03 DOI: 10.1016/j.gendis.2024.101477
Huaiyuan Wang , Shengjie Li , Weiyun Chen , Jianxiong Shen
{"title":"Novel compound heterozygous TTN gene variants with additional potential contributory mutations in two sisters with severe scoliosis: A case report","authors":"Huaiyuan Wang ,&nbsp;Shengjie Li ,&nbsp;Weiyun Chen ,&nbsp;Jianxiong Shen","doi":"10.1016/j.gendis.2024.101477","DOIUrl":"10.1016/j.gendis.2024.101477","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 3","pages":"Article 101477"},"PeriodicalIF":6.9,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143172246","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
Hub genes identification for diagnosing Alzheimer's disease in patients with Crohn's disease
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2024-11-30 DOI: 10.1016/j.gendis.2024.101476
Pei Liu , Xiaoying Yao , Hongyan Wang
{"title":"Hub genes identification for diagnosing Alzheimer's disease in patients with Crohn's disease","authors":"Pei Liu ,&nbsp;Xiaoying Yao ,&nbsp;Hongyan Wang","doi":"10.1016/j.gendis.2024.101476","DOIUrl":"10.1016/j.gendis.2024.101476","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 3","pages":"Article 101476"},"PeriodicalIF":6.9,"publicationDate":"2024-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143172243","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
Comprehensive analysis of immune subtype characterization on identification of potential cells and drugs to predict response to immune checkpoint inhibitors for hepatocellular carcinoma
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2024-11-27 DOI: 10.1016/j.gendis.2024.101471
Guichuan Lai , Biao Xie , Cong Zhang , Xiaoni Zhong , Jielian Deng , Kangjie Li , Hui Liu , Yuan Zhang , Anbin Liu , Yi Liu , Jie Fan , Tianyi Zhou , Wei Wang , Ailong Huang
{"title":"Comprehensive analysis of immune subtype characterization on identification of potential cells and drugs to predict response to immune checkpoint inhibitors for hepatocellular carcinoma","authors":"Guichuan Lai ,&nbsp;Biao Xie ,&nbsp;Cong Zhang ,&nbsp;Xiaoni Zhong ,&nbsp;Jielian Deng ,&nbsp;Kangjie Li ,&nbsp;Hui Liu ,&nbsp;Yuan Zhang ,&nbsp;Anbin Liu ,&nbsp;Yi Liu ,&nbsp;Jie Fan ,&nbsp;Tianyi Zhou ,&nbsp;Wei Wang ,&nbsp;Ailong Huang","doi":"10.1016/j.gendis.2024.101471","DOIUrl":"10.1016/j.gendis.2024.101471","url":null,"abstract":"<div><div>Immunosubtyping enables the segregation of immune responders from non-responders. However, numerous studies failed to focus on the integration of cellular heterogeneity and immunophenotyping in the prediction of hepatocellular carcinoma (HCC) patients' response to immune checkpoint inhibitors (ICIs). We categorized HCC patients into various immune subtypes based on feature scores linked to ICI response. Single-cell sequencing technology was to investigate the cellular heterogeneity of different immune subtypes and acquire significant ICI response-associated cells. Candidate drugs were identified using a blend of various drug databases and network approaches. HCC patients were divided into two distinct immune subtypes based on characterization scores of 151 immune-related gene sets. Patients in both subtypes showed varying overall survival, immunity levels, biological activities, and TP53 mutation rates. Subtype 1-related natural killer cells showed a positive correlation with immune-promoting scores but a negative correlation with immune-suppressing scores. Notably, docetaxel sensitivity in HCC patients rose as the levels of subtype 1-related natural killer cells increased. Our study demonstrated that immune subtypes have cellular heterogeneity in predicting response to ICIs. A combination of subtype 1-associated natural killer cells and docetaxel may offer new hope for ICI treatment in HCC.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 3","pages":"Article 101471"},"PeriodicalIF":6.9,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143478555","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
ADAM8 inactivation modulates cellular component assembly gene expression in the mouse intervertebral disc
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2024-11-19 DOI: 10.1016/j.gendis.2024.101467
Ken Chen , Zuozhen Tian , Motomi Enomoto-Iwamoto , Yejia Zhang
{"title":"ADAM8 inactivation modulates cellular component assembly gene expression in the mouse intervertebral disc","authors":"Ken Chen ,&nbsp;Zuozhen Tian ,&nbsp;Motomi Enomoto-Iwamoto ,&nbsp;Yejia Zhang","doi":"10.1016/j.gendis.2024.101467","DOIUrl":"10.1016/j.gendis.2024.101467","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 3","pages":"Article 101467"},"PeriodicalIF":6.9,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143170943","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
Tnni3k regulates cardiomyopathy and cardiac conduction disease through Nfatc1 signaling
IF 6.9 2区 医学
Genes & Diseases Pub Date : 2024-11-13 DOI: 10.1016/j.gendis.2024.101464
Shi Ouyang , Yujuan Niu , Le Liu , Qiaorong Yi , Wuming Qin , Hui Cao , Tao Liao , Rong Xiang , Yonghe Ding , Yun Deng
{"title":"Tnni3k regulates cardiomyopathy and cardiac conduction disease through Nfatc1 signaling","authors":"Shi Ouyang ,&nbsp;Yujuan Niu ,&nbsp;Le Liu ,&nbsp;Qiaorong Yi ,&nbsp;Wuming Qin ,&nbsp;Hui Cao ,&nbsp;Tao Liao ,&nbsp;Rong Xiang ,&nbsp;Yonghe Ding ,&nbsp;Yun Deng","doi":"10.1016/j.gendis.2024.101464","DOIUrl":"10.1016/j.gendis.2024.101464","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 3","pages":"Article 101464"},"PeriodicalIF":6.9,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143170942","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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