國家衛生研究院 NHRI:Item 3990099045/8277
English  |  正體中文  |  简体中文  |  全文筆數/總筆數 : 12145/12927 (94%)
造訪人次 : 857826      線上人數 : 835
RC Version 6.0 © Powered By DSPACE, MIT. Enhanced by NTU Library IR team.
搜尋範圍 查詢小技巧：
  • 您可在西文檢索詞彙前後加上"雙引號"，以獲取較精準的檢索結果
  • 若欲以作者姓名搜尋，建議至進階搜尋限定作者欄位，可獲得較完整資料
    •  進階搜尋
    主頁 ‧ 登入 ‧ 上傳 ‧ 說明 ‧ 關於NHRI ‧ 管理 到手機版


    請使用永久網址來引用或連結此文件: http://ir.nhri.org.tw/handle/3990099045/8277


    題名: Detection of common mutations in sporadic primary localized cutaneous amyloidosis by DNA mass spectrometry
    作者: Chang, Y;Lin, C;Lee, C;Lin, M;Liu, L;Chen, C;Lee, D;Liu, H;Tsai, S;Matsuura, I
    貢獻者: Institute of Molecular and Genomic Medicine
    摘要: Primary localized cutaneous amyloidosis (PLCA) is a relatively common itchy skin disorder in South America and Southeast Asia. The disease is characterized istologically by focal deposition of amyloid in the dermal papillae of lesional skin resulting in severe itching and discolored macules or papules. The precise pathogenesis of PLCA is unclear, but it is considered to be multifactorial, involving both genetic and environmental contributions. The mutations of the genes for the components of the interleukin-31 (IL-31) receptor, OSMRβ and IL31RA, were associated with patients of familial PLCA from previous whole-genome scan and candidate gene studies. To examine if the same mutations could also be found in sporadic cases of PLCA, we aimed to develop a mutation screen panel covering all known OSMRβ and IL31RA mutations in patients with PLCA. Archival skin biopsy specimens from 360 sporadic PLCA patients were recruited for the analysis. DNA extracted from formalin-fixed paraffin-embedded skin samples were analyzed by a new single base extension reaction with matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) technology. Among the 360 sporadic PLCA cases, 5 were identified with p.K697T mutation, 4 with p.P694L mutation, one with p.I691T mutation, and one with p.V631L mutation of the OSMR gene. Furthermore, one case was found to be positive with the IL31RA-S521F mutation. Together, 3.3% (12/360) of the PLCA was confirmed positive with a definitive genetic diagnosis. The average age at onset was earlier in PLCA patients carrying OSMR or IL31RA mutations than that in patients without a definitive genetic diagnosis (31.3 vs. 46.5 years). Our results confirmed the genetic factor in PLCA patients and identified the prevalent mutations from a retrospective study. This finding may have important implications in clinical practice as a molecular diagnostic tool of the disease.
    日期: 2014-09
    關聯: Journal of Investigative Dermatology. 2014 Sep;134(S2):S56.
    Link to: http://dx.doi.org/10.1038/jid.2014.343
    JIF/Ranking 2023: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=0022-202X&DestApp=IC2JCR
    Cited Times(WOS): https://www.webofscience.com/wos/woscc/full-record/WOS:000340352100321
    顯示於類別:[松浦功] 會議論文/會議摘要
    [蔡世峯] 會議論文/會議摘要

    文件中的檔案:

    檔案 描述 大小格式瀏覽次數
    ISI000340352100321.pdf59KbAdobe PDF697檢視/開啟


    在NHRI中所有的資料項目都受到原著作權保護.

    TAIR相關文章

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