A systematic review of underlying genetic factors associated with ureteropelvic junction obstruction in stenotic human tissue.
A systematic review of underlying genetic factors associated with ureteropelvic junction obstruction in stenotic human tissue.
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DOI：
10.1016/j.jpurol.2022.07.022
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发表时间：
2022-10
影响因子：
2
通讯作者：
Woo, Lynn
中科院分区：
文献类型：
--
作者：
Isali, Ilaha;McClellan, Phillip;Wong, Thomas R.;Gupta, Shubham;Woo, Lynn
肾盂输尿管连接部梗阻(UPJO)的发生与遗传因素有关。这项研究的目的是：1)浓缩和检验包含UPJO患者组织差异基因表达信息的研究中的现有数据；2)调查遗传标记与其相关途径之间的关联。使用Ovid/Medline、PubMed、Wiley Cochrane中央对照试验登记处、科学网和Scope us数据库对2000年1月至2021年9月发表的研究进行了系统回顾。在249项研究中，有10项进入了最终分析。使用术语“输尿管肾盂连接部梗阻”、“基因”、“基因”和“基因表达”进行搜索。确定了与UPJO患者与健康对照相比差异基因表达的文献。选择直接在狭窄组织样本上进行的包含基因表达和分子数据量化的研究进行分析。然后使用MetaScape软件确定基因网络连接和功能分析。在确定用于分析的10个研究中，15个基因被注意到差异表达。在UPJO患者中，9个基因(ET1、ACTA2、MCP-1、TGFB1、NFKB1、IL-6、HIF1a、S100A1、SYP)上调，6个基因(ADM、NOS2、EGF、PDGFRA、UCHL1、NGFR)下调。这些基因主要参与HIF-1信号通路、血管发育、信号受体活性正向调节和RAS信号通路。在UPJO的发展过程中，与缺氧、过度纤维组织形成和炎症相关的基因之间存在潜在的联系，这些联系值得在UPJO患者中进行更详细的组织水平的研究。这一系统性综述的结果可能为未来的靶向治疗和新的治疗生物标记物的检测、早期发现以及可能的预测和预防UPJO的发展奠定基础。输尿管肾盂连接部梗阻(UPJO)的简图，上调和下调的基因列表，以及可能与这种情况相关的主要信号通路。
Genetic factors are implicated in the development of ureteropelvic junction obstruction (UPJO). The aims of this study were: 1) condense and examine the existing data in studies containing information regarding differential gene expression in tissues from patients with UPJO and 2) investigate associations between genetic markers and their related pathways. A systematic review of studies published between January 2000 and September 2021 was conducted using the following databases: Ovid/Medline, PubMed, Wiley Cochrane Central Register of Controlled Trials, Web of Science, and Scopus. Of 249 studies, 10 were included in the final analysis. The search was performed using the terms “ureteropelvic junction obstruction”, “genetic”, “gene”, and “gene expression”. Literature pertaining to differential gene expression in UPJO patients as compared to healthy controls was identified. Studies containing gene expression and quantification of molecular data carried out directly on stenotic tissue samples were selected for analysis. Gene network connections and functional analyses were then determined using MetaScape software. From the ten studies identified for analysis, fifteen genes were noted as differentially expressed. In UPJO patients, nine genes were upregulated (ET1, ACTA2, MCP-1, TGFB1, NFKB1, IL-6, HIF1A, S100A1, SYP) and six were downregulated (ADM, NOS2, EGF, PDGFRA, UCHL1, NGFR). These genes were principally involved in HIF-1 signaling pathway, blood vessel development, positive regulation of signaling receptor activity, and Ras signaling pathway. A potential link exists between genes related to hypoxia, excessive fibrous tissue formation, and inflammation in the development of UPJO, and these connections merit more detailed, tissue level investigations in UPJO patients. The outcomes of this systematic review may lay the groundwork for the development of future targeted therapies and novel biomarker detection for treatments, early detection, and possible prediction and prevention of development of UPJO. Summary Figure With a diagram of the ureteropelvic junction obstruction (UPJO), a list of up- and down-regulated genes, and major signaling pathways potentially associated with the condition.
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影响因子：
39.3
作者：
Liu T;Zhang L;Joo D;Sun SC
通讯作者：
Sun SC
DOI：
10.1042/bcj20160082
发表时间：
2016-08-15
期刊：
The Biochemical journal
影响因子：
--
作者：
Bishop P;Rocca D;Henley JM
通讯作者：
Henley JM
影响因子：
4
作者：
Lo CK;Mertz D;Loeb M
通讯作者：
Loeb M
影响因子：
2.7
作者：
Ruiz-Deya, G;Sikka, SC;Abdel-Mageed, AB
通讯作者：
Abdel-Mageed, AB
David Gene功能分类工具：一种以生物模块为中心的新型算法，可在功能上分析大基因列表。
影响因子：
12.3
作者：
Huang, Da Wei;Sherman, Brad T;Tan, Qina;Collins, Jack R;Alvord, W Gregory;Roayaei, Jean;Stephens, Robert;Baseler, Michael W;Lane, H Clifford;Lempicki, Richard A
通讯作者：
Lempicki, Richard A