Genes & Diseases最新文献_第2页

Epigenetic modulation of thyroid cancer metastasis and glycolysis through circSSU72-mediated ubiquitination of gamma-catenin and beta-catenin signaling

IF 6.9 2区医学

Genes & Diseases Pub Date : 2024-12-07 DOI: 10.1016/j.gendis.2024.101485

Zeyu Zhang , Duntao Su , Xiangyuan Qiu , Lei Yao , Fada Xia , Xinying Li

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

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

引用次数: 0

Mitochondrial SLC3A1 regulates sexual dimorphism in cystinuria

IF 6.9 2区医学

Genes & Diseases Pub Date : 2024-11-29 DOI: 10.1016/j.gendis.2024.101472

Jingyi Su , Yongdong Pan , Fengbo Zhong , Yi Zhong , Jiaxin Huang , Shengnan Liu , Kaiyuan Wang , Kai Lin , Xiangchen Gu , Dali Li , Qihui Wu , Hongquan Geng , Yuting Guan , Guofeng Xu

{"title":"Mitochondrial SLC3A1 regulates sexual dimorphism in cystinuria","authors":"Jingyi Su , Yongdong Pan , Fengbo Zhong , Yi Zhong , Jiaxin Huang , Shengnan Liu , Kaiyuan Wang , Kai Lin , Xiangchen Gu , Dali Li , Qihui Wu , Hongquan Geng , Yuting Guan , Guofeng Xu","doi":"10.1016/j.gendis.2024.101472","DOIUrl":"10.1016/j.gendis.2024.101472","url":null,"abstract":"<div><div>Cystinuria is the most common inheritable cause of kidney stone disease, with males exhibiting a higher susceptibility than females. However, the cellular origin and underlying mechanisms of sex differences in cystinuria remain elusive. This study aims to investigate the mechanism using <em>Slc3a1</em> knockout mice. We found that male mice lacking the <em>Slc3a1</em> gene exhibited more severe stone formation and renal injuries, unaffected by double knockout of another sex-dependent-expressed cystine transporter <em>Slc7a13</em> or orchidectomy procedure. Further investigations revealed aberrant mitochondrial functions as the primary factor contributing to the severity of cystinuria in <em>Slc3a1</em> knockout male mice. Mechanistically, higher SLC3A1 levels in male kidneys could enhance mitochondrial functions through modulation of mitochondrial NAD<sup>+</sup> uptake primarily in proximal tubule cells. Supplementation with an NAD<sup>+</sup> precursor rescued the sex differences caused by <em>Slc3a1</em> knockout. Our studies uncover the crucial role of <em>Slc3a1</em> in mitochondrial functions and provide novel insights into potential interventions for sexual dimorphism of cystinuria.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 3","pages":"Article 101472"},"PeriodicalIF":6.9,"publicationDate":"2024-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143510606","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 , 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","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

Autoantigenic peptide landscape of rheumatoid arthritis-associated HLA class II

IF 6.9 2区医学

Genes & Diseases Pub Date : 2024-11-26 DOI: 10.1016/j.gendis.2024.101469

Irina A. Ishina , Anton P. Zhiyanov , Inna N. Kurbatskaia , Azad E. Mamedov , Stepan A. Nersisyan , Rustam H. Ziganshin , Igor E. Eliseev , Yunna S. Petrusenko , Anastasia V. Nikonova , Elizaveta S. Zhbanova , Maria A. Salnikova , Leyla A. Ovchinnikova , Ilgar Z. Mamedov , Alexey N. Davydov , Kamila S. Nurbaeva , Tatiana A. Lisitsyna , Tatiana M. Reshetnyak , Alexander M. Lila , Evgeniy L. Nasonov , Yakov A. Lomakin , Maria Y. Zakharova

引用次数: 0

Identification of the underlying molecular mechanisms of primary biliary cholangitis and ulcerative colitis comorbidity

IF 6.9 2区医学

Genes & Diseases Pub Date : 2024-11-26 DOI: 10.1016/j.gendis.2024.101470

Weijia Han , Ting Song , Qi Wang , Chunyang Huang

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

引用次数: 0

Multi-time point transcriptomics and metabolomics reveal key transcription and metabolic features of hepatic ischemia-reperfusion injury in mice 多时间点转录组学和代谢组学揭示了小鼠肝缺血再灌注损伤的关键转录和代谢特征。

IF 6.9 2区医学

Genes & Diseases Pub Date : 2024-11-17 DOI: 10.1016/j.gendis.2024.101465

Qi Li , Xiaoyan Qin , Liangxu Wang , Dingheng Hu , Rui Liao , Huarong Yu , Zhongjun Wu , Yanyao Liu

{"title":"Multi-time point transcriptomics and metabolomics reveal key transcription and metabolic features of hepatic ischemia-reperfusion injury in mice","authors":"Qi Li , Xiaoyan Qin , Liangxu Wang , Dingheng Hu , Rui Liao , Huarong Yu , Zhongjun Wu , Yanyao Liu","doi":"10.1016/j.gendis.2024.101465","DOIUrl":"10.1016/j.gendis.2024.101465","url":null,"abstract":"<div><div>Hepatic ischemia-reperfusion injury is an unavoidable surgical complication of liver transplantation and the leading cause of poor graft function and increased mortality post-transplantation. Multiple mechanisms have been implicated in ischemia-reperfusion injury; however, the characteristic changes at the transcriptional and metabolic levels in the early, intermediate, and late phases of ischemia-reperfusion injury remain unclear. In the study, mice underwent laparotomy following anesthesia, and the blood vessels of the liver were clipped using a vascular clamp to form 70% warm ischemia of the liver. Mouse liver sections and serum samples were collected and divided into the Sham, I1R12, I1R24, and I1R48 groups. Transcriptomics and metabolomics analyses were performed to study characteristic alterations during the early, intermediate, and late phases of ischemia-reperfusion injury. Quantitative real-time PCR was used to validate the critical differentially expressed genes. The differentially expressed genes and metabolites were identified by transcriptomics and metabolomics analyses. Moreover, GO and KEGG enrichment analyses indicated that glucose metabolism remodeling, inflammatory response activation, and lipid metabolism remodeling were characteristic changes in the early, intermediate, and late phases of ischemia-reperfusion injury, respectively. In summary, our study revealed the importance of glucolipid metabolism in ischemia-reperfusion injury and provided potential therapeutic intervention targets and a new perspective to explore the underlying mechanisms of ischemia-reperfusion injury.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 2","pages":"Article 101465"},"PeriodicalIF":6.9,"publicationDate":"2024-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11697123/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142932872","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

PTEN and novel TEK germline variants associated with the phenotypes of PTEN hamartoma tumor syndrome

IF 6.9 2区医学

Genes & Diseases Pub Date : 2024-11-16 DOI: 10.1016/j.gendis.2024.101466

Hongrui Chen , Bin Sun , Yanchun Zhou, Chen Hua, Xiaoxi Lin

引用次数: 0