Shuping Zhang, Yamei Ma, Xiu Zang, Hao Heng, Xuekui Liu, Gangshan Peng, Ran Liu, Jun Liang, H. Geng
{"title":"A Case of 17q12 Microdeletion Syndrome in a MODY5 Type Diabetes with HNF-1β Gene Mutation Accompanied","authors":"Shuping Zhang, Yamei Ma, Xiu Zang, Hao Heng, Xuekui Liu, Gangshan Peng, Ran Liu, Jun Liang, H. Geng","doi":"10.2147/tacg.s465859","DOIUrl":"https://doi.org/10.2147/tacg.s465859","url":null,"abstract":"","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"14 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141710739","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Rare Case of de Novo 2p15 Microdeletion Syndrome with Deletion Covering XPO1 and USP34 Genes Diagnosed in a Child – A Case Report","authors":"G. Ręka, Katarzyna Wojciechowska, Monika Lejman","doi":"10.2147/tacg.s465575","DOIUrl":"https://doi.org/10.2147/tacg.s465575","url":null,"abstract":"","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"25 2‐3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141689086","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Diana Sierra-Díaz, Rodrigo Cabrera, Laura Gonzalez-Vasquez, Mariana Angulo-Aguado, Kevin Llinás-Caballero, Dora Fonseca-Mendoza, Nora Constanza Contreras-Bravo, Carlos Restrepo, Oscar Ortega-Recalde, Adrien Morel
{"title":"Functional Analysis of BRCA1 3’UTR Variants Predisposing to Breast Cancer","authors":"Diana Sierra-Díaz, Rodrigo Cabrera, Laura Gonzalez-Vasquez, Mariana Angulo-Aguado, Kevin Llinás-Caballero, Dora Fonseca-Mendoza, Nora Constanza Contreras-Bravo, Carlos Restrepo, Oscar Ortega-Recalde, Adrien Morel","doi":"10.2147/tacg.s444546","DOIUrl":"https://doi.org/10.2147/tacg.s444546","url":null,"abstract":"","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":" 24","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141130756","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Wycliff Wodelo, Eddie Wampande, Alfred Andama, David Kateete, Kenneth Ssekatawa
Abstract Tuberculosis remains a global health concern, with substantial mortality rates worldwide. Genetic factors play a significant role in influencing susceptibility to tuberculosis. This review examines the current progress in studying polymorphisms within immune genes associated with tuberculosis susceptibility, focusing on African populations. The roles of various proteins, including Toll-like receptors, Dendritic Cell-Specific Intercellular Adhesion Molecule-3 Grabbing Non-Integrin, vitamin D nuclear receptor, soluble C-type lectins such as surfactant proteins A and D, C-type Lectin Domain Family 4 Member E, and mannose-binding lectin, phagocyte cytokines such as Interleukin-1, Interleukin-6, Interleukin-10, Interleukin-12, and Interleukin-18, and chemokines such as Interleukin-8, monocyte chemoattractant protein 1, Regulated upon activation, normal T-cell expressed and secreted are explored in the context of tuberculosis susceptibility. We also address the potential impact of genetic variants on protein functions, as well as how these findings align with the genetic polymorphisms not associated with tuberculosis. Functional studies in model systems provide insights into the intricate host-pathogen interactions and susceptibility mechanisms. Despite progress, gaps in knowledge remain, highlighting the need for further investigations. This review emphasizes the association of Single Nucleotide Polymorphisms with diverse aspects of tuberculosis pathogenesis, including disease detection and Mycobacterium tuberculosis infection.
摘要 结核病仍然是全球关注的健康问题，其死亡率在全世界都很高。遗传因素在影响结核病易感性方面发挥着重要作用。这篇综述探讨了目前在研究与结核病易感性相关的免疫基因多态性方面取得的进展，重点是非洲人群。各种蛋白质的作用，包括 Toll 样受体、树突状细胞特异性细胞间黏附分子-3 抓取非内含蛋白、维生素 D 核受体、可溶性 C 型凝集素（如表面活性蛋白 A 和 D）、C 型凝集素域家族 4 成员 E 和甘露糖结合凝集素、在结核病易感性的背景下，我们还探讨了吞噬细胞细胞因子，如白细胞介素-1、白细胞介素-6、白细胞介素-10、白细胞介素-12 和白细胞介素-18，以及趋化因子，如白细胞介素-8、单核细胞趋化蛋白 1、激活时调控因子、正常 T 细胞表达和分泌因子。我们还探讨了基因变异对蛋白质功能的潜在影响，以及这些发现如何与与结核病无关的基因多态性相一致。在模型系统中进行的功能研究有助于深入了解宿主与病原体之间错综复杂的相互作用和易感机制。尽管取得了进展，但知识方面的差距依然存在，凸显了进一步调查的必要性。本综述强调了单核苷酸多态性与结核病发病机制不同方面的关联，包括疾病检测和结核分枝杆菌感染。
{"title":"Polymorphisms in Immune Genes and Their Association with Tuberculosis Susceptibility: An Analysis of the African Population","authors":"Wycliff Wodelo, Eddie Wampande, Alfred Andama, David Kateete, Kenneth Ssekatawa","doi":"10.2147/TACG.S457395","DOIUrl":"https://doi.org/10.2147/TACG.S457395","url":null,"abstract":"Abstract Tuberculosis remains a global health concern, with substantial mortality rates worldwide. Genetic factors play a significant role in influencing susceptibility to tuberculosis. This review examines the current progress in studying polymorphisms within immune genes associated with tuberculosis susceptibility, focusing on African populations. The roles of various proteins, including Toll-like receptors, Dendritic Cell-Specific Intercellular Adhesion Molecule-3 Grabbing Non-Integrin, vitamin D nuclear receptor, soluble C-type lectins such as surfactant proteins A and D, C-type Lectin Domain Family 4 Member E, and mannose-binding lectin, phagocyte cytokines such as Interleukin-1, Interleukin-6, Interleukin-10, Interleukin-12, and Interleukin-18, and chemokines such as Interleukin-8, monocyte chemoattractant protein 1, Regulated upon activation, normal T-cell expressed and secreted are explored in the context of tuberculosis susceptibility. We also address the potential impact of genetic variants on protein functions, as well as how these findings align with the genetic polymorphisms not associated with tuberculosis. Functional studies in model systems provide insights into the intricate host-pathogen interactions and susceptibility mechanisms. Despite progress, gaps in knowledge remain, highlighting the need for further investigations. This review emphasizes the association of Single Nucleotide Polymorphisms with diverse aspects of tuberculosis pathogenesis, including disease detection and Mycobacterium tuberculosis infection.","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"49 10","pages":"33 - 46"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140400582","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yang Liu, Xiangxin Lan, Juanjuan Lu, Qian Zhang, Tingting Zhou, T. Ni, Junhao Yan
{"title":"Preimplantation Genetic Testing for Aneuploidy Could Not Improve Cumulative Live Birth Rate Among 705 Couples with Unexplained Recurrent Implantation Failure","authors":"Yang Liu, Xiangxin Lan, Juanjuan Lu, Qian Zhang, Tingting Zhou, T. Ni, Junhao Yan","doi":"10.2147/tacg.s441784","DOIUrl":"https://doi.org/10.2147/tacg.s441784","url":null,"abstract":"","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"11 9","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139685236","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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