Genes & Diseases最新文献_第8页

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

Zinc finger transcription factor ZNF24 inhibits colorectal cancer growth and metastasis by suppressing MMP2 transcription 锌指转录因子ZNF24通过抑制MMP2转录抑制结直肠癌生长和转移

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-01-10 DOI: 10.1016/j.gendis.2025.101529

Shuo Tian , Xia Chen , Jianzhong Li

引用次数: 0

A novel mutation in the KLHL17 gene is associated with neurodevelopmental disorders KLHL17基因的一种新突变与神经发育障碍有关

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-01-10 DOI: 10.1016/j.gendis.2025.101528

Meng Ao , Shunxiang Zhang , Yun Ouyang , Shucong Li , Heqian Ma , Meizhen Guo , Xuelin Dai , Qianhui Xia , Xiaoying Zhang

引用次数: 0

Fibroblast growth factor 8: Multifaceted role in development and developmental disorder 成纤维细胞生长因子8：在发育和发育障碍中的多方面作用

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-01-10 DOI: 10.1016/j.gendis.2025.101524

Huamin Yin , Lian Duan , Zhendong Wang , Li Liu , Jingling Shen

引用次数: 0

Integrating spatial transcriptomics and single-cell RNA-sequencing reveals epithelial cell alterations in benign prostatic hyperplasia following finasteride treatment 整合空间转录组学和单细胞rna测序揭示了非那雄胺治疗后良性前列腺增生的上皮细胞改变

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-01-10 DOI: 10.1016/j.gendis.2025.101526

Yanting Shen , Xiawei Fei , Liyang Dai , Ting Zhu , Jican Liu , Zhenqi Wu , Huan Xu , Huifeng Li , Zhong Wang

引用次数: 0

Transcriptomic characterization of posterior capsule, anterior capsule, and femoral condylar tissue highlights tissue-specific microenvironments in knee osteoarthritis 后囊、前囊和股骨髁组织的转录组学特征突出了膝关节骨关节炎的组织特异性微环境

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-01-10 DOI: 10.1016/j.gendis.2025.101530

Odette Laneuville , Daniel Stratis , Guy Trudel , Robert Feibel , T Mark Campbell

引用次数: 0

Identifying functional subtypes and common mechanisms of rheumatoid arthritis and systemic lupus erythematosus 鉴定类风湿性关节炎和系统性红斑狼疮的功能亚型和共同机制

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-01-10 DOI: 10.1016/j.gendis.2025.101527

Jiajun Li , Hao Tang , Zhenwei Shang , Rui Chen, Xin Meng, Xiangshu Cheng, Zerun Song, Shuai Li, Ruijie Zhang, Wenhua Lv

引用次数: 0

Clinical-molecular profiling of atypical GNAO1 patients: Novel pathogenic variants, unusual manifestations, and severe molecular dysfunction 非典型GNAO1患者的临床-分子分析：新的致病变异，异常表现和严重的分子功能障碍

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-01-09 DOI: 10.1016/j.gendis.2025.101522

Gonzalo P. Solis , Federica Rachele Danti , Yonika A. Larasati , Federica Graziola , Carolina Croci , Elisa Osanni , Alexey Koval , Giovanna Zorzi , Vladimir L. Katanaev

引用次数: 0

Data-informed insights into sex differences in peripheral blood mononuclear cells from single-cell transcriptomics 从单细胞转录组学角度分析外周血单核细胞的性别差异

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-01-08 DOI: 10.1016/j.gendis.2025.101525

Hui-Qi Qu , Joseph T. Glessner , Charlly Kao , Hakon Hakonarson

引用次数: 0

Landscape of metabolic alterations and treatment strategies in breast cancer 乳腺癌的代谢改变和治疗策略

IF 6.9 2区医学

Genes & Diseases Pub Date : 2025-01-08 DOI: 10.1016/j.gendis.2025.101521

Xiujuan Wu , Xuanni Tan , Yangqiu Bao , Wenting Yan, Yi Zhang

{"title":"Landscape of metabolic alterations and treatment strategies in breast cancer","authors":"Xiujuan Wu , Xuanni Tan , Yangqiu Bao , Wenting Yan, Yi Zhang","doi":"10.1016/j.gendis.2025.101521","DOIUrl":"10.1016/j.gendis.2025.101521","url":null,"abstract":"<div><div>Breast cancer, the most prevalent cancer in women, poses a significant threat to their health. One of the prominent characteristics of malignant transformation in breast cancer cells is metabolic reprogramming, which encompasses glucose, lipid, and amino acid metabolism. Notably, breast cancer cells exhibit augmented energy metabolism and heightened glycolysis. In addition, there is an escalated demand for glutamine, which is met through intrinsic synthesis, uptake from extracellular sources via membrane transport proteins, or up-regulation of key metabolic enzymes in the glutamine metabolism pathway. Lipids not only serve as an energy source for tumor cells but also function as signaling molecules for intercellular communication. Extensive research in recent years has focused on unraveling the intricate mechanisms underlying metabolic reprogramming. Consequently, genes implicated in these processes have emerged as clinical therapeutic targets for cancer treatment. This review provides a comprehensive summary of the common metabolic alterations observed in cancer cells, discusses the factors and regulatory mechanisms influencing these changes, and explores potential therapeutic targets and strategies within the realm of cancer metabolism.</div></div>","PeriodicalId":12689,"journal":{"name":"Genes & Diseases","volume":"12 5","pages":"Article 101521"},"PeriodicalIF":6.9,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144222127","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