國家衛生研究院 NHRI:Item 3990099045/4584
English  |  正體中文  |  简体中文  |  全文笔数/总笔数 : 12145/12927 (94%)
造访人次 : 855527      在线人数 : 1183
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/3990099045/4584


    题名: Mutations in either the OSMR or IL31RA genes underlie familial primary cutaneous amyloidosis
    作者: Tsai, S;Lin, M;Lee, D;McGrath, J
    贡献者: Division of Molecular and Genomic Medicine
    摘要: Primary cutaneous amyloidosis (PCA) is an itchy skin disorder associated with amyloid deposits in the superfi cial dermis. The disease is relatively common in Southeast Asia and South America. Autosomal dominant PCA has been mapped previously to 5p13.1-q11.2 and 2 pathogenic missense mutations in the OSMR gene, which encodes the interleukin-6 family cytokine receptor oncostatin M receptor beta (OSMRβ), were reported. Here, we investigated 29 Taiwanese pedigrees with PCA and found that 10 had heterozygous missense mutations in OSMR: p.D647V (1 family), p.P694L (6 families), and p.K697T (3 families). The mutation p.P694L was associated with the same haplotype in 5 of 6 families and also detected in 2 sporadic cases of PCA. Of the other 19 pedigrees that lacked OSMR pathology, 8 mapped to the same locus on chromosome 5, which also contains the genes for 3 other interleukin-6 family cytokine receptors, including interleukin-31 receptor A (IL31RA), which can form a heterodimeric receptor with OSMRβ through interleukin-31 signaling. In one family, we identifi ed a point mutation in the IL31RA gene, c.1562C>T, that results in a missense mutation, p.S521F, which is also sited within a fi bronectin type III-like repeat domain as observed in the OSMR mutations. PCA is a genetically heterogeneous disorder but our study shows that it can be caused by mutations in 2 biologically associated cytokine receptor genes located on chromosome 5. The identifi cation of OSMR and IL31RA gene pathology provides an explanation of the high prevalence of PCA in Taiwan as well as new insight into disease pathophysiology and management. The pathogenesis mechanisms of FPCA involving the two genes are under investigation by expressing mutant receptor components in the cell culture system.
    日期: 2009-09
    關聯: Journal of Investigative Dermatology. 2009 Sep;129(S2):S46.
    Link to: http://dx.doi.org/10.1038/jid.2009.232
    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:000269264100271
    显示于类别:[蔡世峯] 會議論文/會議摘要

    文件中的档案:

    档案 描述 大小格式浏览次数
    ISI000269264100271.pdf1127KbAdobe PDF623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