國家衛生研究院 NHRI:Item 3990099045/13615
English  |  正體中文  |  简体中文  |  全文笔数/总笔数 : 12189/12972 (94%)
造访人次 : 954386      在线人数 : 712
RC Version 6.0 © Powered By DSPACE, MIT. Enhanced by NTU Library IR team.
搜寻范围 查询小技巧：
  • 您可在西文检索词汇前后加上"双引号"，以获取较精准的检索结果
  • 若欲以作者姓名搜寻，建议至进阶搜寻限定作者字段，可获得较完整数据
    •  进阶搜寻
    主页 ‧ 登入 ‧ 上传 ‧ 说明 ‧ 关于NHRI ‧ 管理 到手机版


    jsp.display-item.identifier=請使用永久網址來引用或連結此文件: http://ir.nhri.org.tw/handle/3990099045/13615


    题名: Characterization of a mutated KCNJ5 gene, G387R, in unilateral primary aldosteronism
    作者: Chueh, JS;Peng, KY;Wu, VC;Shuo-Meng, W;Chieh-Kai, C;Chen, YM;Ke, YY;Pan, CY;Liao, HW
    贡献者: Institute of Biotechnology and Pharmaceutical Research
    摘要: Somatic mutation in the KCNJ5 gene is a common driver of autonomous aldosterone overproduction in aldosterone-producing adenomas (APA). KCNJ5 mutations contribute to a loss of potassium selectivity and an inward Na+ current could be detected in cells transfected with mutated KCNJ5. Among 223 unilateral primary aldosteronism (uPA) individuals with a KCNJ5 mutation, we identified 6 adenomas with a KCNJ5 p.Gly387Arg (G387R) mutation, previously unreported in uPA patients. The 6 uPA patients harboring mutant KCNJ5-G387R were older, had a longer hypertensive history, and milder elevated preoperative plasma aldosterone levels than those APA patients with more frequently detected KCNJ5 mutations. CYP11B2 immunohistochemical staining was only positive in 3 adenomas, while the other 3 had co-existing multiple aldosterone-producing micronodules). The bioinformatics analysis predicted that function of the KCNJ5-G387R mutant channel could be pathological. However, the electrophysiological experiment demonstrated that transfected G387R mutant cells did not have an aberrantly stimulated ion current, with lower CYP11B2 synthesis and aldosterone production, when compared to that of the more frequently detected mutant KCNJ5-L168R transfected cells. In conclusion, mutant KCNJ5-G387R is not a functional KCNJ5 mutation in unilateral PA, and its associated only mildly elevated aldosterone expression actually dampened the clinical identification of clinical unilateral PA, in comparison to other KCNJ5 mutations. The KCNJ5-G387R mutation needs to be distinguished from functional KCNJ5 mutations during genomic analysis in APA evaluation because of its functional silence.
    日期: 2021-11
    關聯: Journal of Molecular Endocrinology. 2021 Nov;67(4):203-215.
    Link to: http://dx.doi.org/10.1530/jme-20-0282
    JIF/Ranking 2023: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=0952-5041&DestApp=IC2JCR
    Cited Times(WOS): https://www.webofscience.com/wos/woscc/full-record/WOS:000704611700004
    Cited Times(Scopus): https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=85116764268
    显示于类别:[其他] 期刊論文

    文件中的档案:

    档案 描述 大小格式浏览次数
    PUB34463641.pdf2210KbAdobe PDF179检视/开启


    在NHRI中所有的数据项都受到原著作权保护.

    TAIR相关文章

    DSpace Software Copyright © 2002-2004  MIT &  Hewlett-Packard  /   Enhanced by   NTU Library IR team Copyright ©   - 回馈