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A causal association between immune cells and hypertrophic cardiomyopathy: A bidirectional Mendelian randomization study
IF 6.9 2区 医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY
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 , Qiangzhong Pi , Jun Yang , Mengning Wan , Jiang Yu , Ding Yang , Yongzheng Guo , 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
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 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY
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 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY
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
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+ TAMs and IGHM+ 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 in situ 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.
{"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 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY
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
Exosomes, a type of extracellular vesicle, are commonly found in different body fluids and are rich in nucleic acids (circRNA, lncRNAs, miRNAs, mRNAs, tRNAs, etc.), 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.
{"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
GATA2 up-regulation restores androgen receptor chromatin association and advances darolutamide resistance in prostate cancer
IF 6.9 2区 医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY
Genes & Diseases
Pub Date : 2024-12-28 DOI: 10.1016/j.gendis.2024.101508
Tianyi Zhou , Chengtai Yu , Yali Han , Bin He , Qin Feng
{"title":"GATA2 up-regulation restores androgen receptor chromatin association and advances darolutamide resistance in prostate cancer","authors":"Tianyi Zhou ,&nbsp;Chengtai Yu ,&nbsp;Yali Han ,&nbsp;Bin He ,&nbsp;Qin Feng","doi":"10.1016/j.gendis.2024.101508","DOIUrl":"10.1016/j.gendis.2024.101508","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 4","pages":"Article 101508"},"PeriodicalIF":6.9,"publicationDate":"2024-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143682706","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 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY
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
Exploring the role of FTO in preeclampsia pathogenesis: Insights into m6A modification and decidualization
IF 6.9 2区 医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY
Genes & Diseases
Pub Date : 2024-12-24 DOI: 10.1016/j.gendis.2024.101504
Jing Tong , Liang Zhang , Jing Bai , Cong Zhang
{"title":"Exploring the role of FTO in preeclampsia pathogenesis: Insights into m6A modification and decidualization","authors":"Jing Tong ,&nbsp;Liang Zhang ,&nbsp;Jing Bai ,&nbsp;Cong Zhang","doi":"10.1016/j.gendis.2024.101504","DOIUrl":"10.1016/j.gendis.2024.101504","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 4","pages":"Article 101504"},"PeriodicalIF":6.9,"publicationDate":"2024-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143642686","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
IL-17 signaling pathway in SPP1+ macrophages drives digestive tract cancer progression
IF 6.9 2区 医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY
Genes & Diseases
Pub Date : 2024-12-14 DOI: 10.1016/j.gendis.2024.101489
Yihong Wei , Ying Xu , Yanqiong Zeng , Amin Zhang , Xiangling Xing , Wancheng Liu
{"title":"IL-17 signaling pathway in SPP1+ macrophages drives digestive tract cancer progression","authors":"Yihong Wei ,&nbsp;Ying Xu ,&nbsp;Yanqiong Zeng ,&nbsp;Amin Zhang ,&nbsp;Xiangling Xing ,&nbsp;Wancheng Liu","doi":"10.1016/j.gendis.2024.101489","DOIUrl":"10.1016/j.gendis.2024.101489","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 4","pages":"Article 101489"},"PeriodicalIF":6.9,"publicationDate":"2024-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143683132","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 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY
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
Engrailed-1 inactivation leads to scarless skin wound healing through extracellular matrix remodeling
IF 6.9 2区 医学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY
Genes & Diseases
Pub Date : 2024-12-09 DOI: 10.1016/j.gendis.2024.101484
Ailing Hao , Xiangyu Dong , Yannian Gou , Aohua Li , Jiajia Li , Han Xiang , Saidur Rahaman , Yi Zhu , Hui Zhang , Wulin You , Guowei Shen , Changqi Luo , Ou Mei , Xingye Wu , Lewis L. Shi , Russell R. Reid , Tong-Chuan He , Jiaming Fan
{"title":"Engrailed-1 inactivation leads to scarless skin wound healing through extracellular matrix remodeling","authors":"Ailing Hao ,&nbsp;Xiangyu Dong ,&nbsp;Yannian Gou ,&nbsp;Aohua Li ,&nbsp;Jiajia Li ,&nbsp;Han Xiang ,&nbsp;Saidur Rahaman ,&nbsp;Yi Zhu ,&nbsp;Hui Zhang ,&nbsp;Wulin You ,&nbsp;Guowei Shen ,&nbsp;Changqi Luo ,&nbsp;Ou Mei ,&nbsp;Xingye Wu ,&nbsp;Lewis L. Shi ,&nbsp;Russell R. Reid ,&nbsp;Tong-Chuan He ,&nbsp;Jiaming Fan","doi":"10.1016/j.gendis.2024.101484","DOIUrl":"10.1016/j.gendis.2024.101484","url":null,"abstract":"","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 3","pages":"Article 101484"},"PeriodicalIF":6.9,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143172244","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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