Elucidation of pathogenesis and development of novel therapy of chilblain lupus on the basis of an exonuclease enzyme

阐明基于核酸外切酶的冻疮性狼疮的发病机制和新疗法的开发

基本信息

  • 批准号:
    24659526
  • 负责人:
  • 金额:
    $ 2.41万
  • 依托单位:
  • 依托单位国家:
    日本
  • 项目类别:
    Grant-in-Aid for Challenging Exploratory Research
  • 财政年份:
    2012
  • 资助国家:
    日本
  • 起止时间:
    2012-04-01 至 2013-03-31
  • 项目状态:
    已结题

项目摘要

A Japanese female patient of chilblain lupus followed by us has family history of chilblain lupus which is considered autosomal dominant trait. The onset of chilblain lupus of the patient was 1 year-old. She shows skin ulcers on the bilateral fingers and nose, and has contraction of finger joints. Direct sequencing of all coding exons and exon-intron boundaries of TREX1 and SAMHD1 was conducted. The patient had a novel heterozygous missense TREX1 c.394C>G (p.Pro132Ala) mutation. in vitro 3 prime single stranded DNA exonuclease assay revealed that TREX1 p.Pro132Ala had dysfunction of enzyme activity. Taken together, we found familial chilblain lupus due to TREX1 dysfunction in Japan for the first time.
一名日本女性患者的冻疮狼疮其次是我们有家族史的冻疮狼疮,这被认为是常染色体显性遗传。患者1岁时开始出现冻疮性狼疮。患者双侧手指及鼻部皮肤溃疡,手指关节挛缩。对TREX 1和SAMHD 1的所有编码外显子和外显子-内含子边界进行直接测序。该患者有一个新的杂合错义TREX 1 c.394C>G(p.Pro132Ala)突变。体外3引物单链核酸外切酶分析表明TREX 1 p.Pro132Ala具有酶活性障碍。综上所述,我们首次在日本发现了由TREX 1功能障碍引起的家族性冻疮狼疮。

项目成果

期刊论文数量(100)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations.
  • DOI:
    10.1371/journal.pone.0089261
  • 发表时间:
    2014
  • 期刊:
  • 影响因子:
    3.7
  • 作者:
    Tanahashi K;Sugiura K;Kono M;Takama H;Hamajima N;Akiyama M
  • 通讯作者:
    Akiyama M
Generalized pusular psoriasis triggered by amoxicillin in monozygotic twins with compound heterozygous IL36RN mutations : Comment on the article by Navarini et al
具有复合杂合 IL36RN 突变的同卵双胞胎中阿莫西林引发的全身性脓疱型银屑病:对 Navarini 等人的文章的评论
  • DOI:
    10.1038/jid.2013.354
  • 发表时间:
    2014
  • 期刊:
  • 影响因子:
    6.5
  • 作者:
    Sugiura K;Shoda Y;Akiyama M
  • 通讯作者:
    Akiyama M
Angiokeratoma of the scrotum and sublingual varices in a patient with jejunal phlebectasia
空肠静脉扩张患者的阴囊血管角化瘤和舌下静脉曲张
  • DOI:
    10.1684/ejd.2012.1868
  • 发表时间:
    2012
  • 期刊:
  • 影响因子:
    2.5
  • 作者:
    Abe T;Tanaka Y;Tanimine N;Onoe T;Ide K;Ishiyama K;Ohdan H.;Takama H
  • 通讯作者:
    Takama H
Sporadic VACTERL association in a Japanese family with Sjogren-Larsson syndrome.
一个患有 Sjogren-Larsson 综合征的日本家庭中存在散发性 VACTERL 关联。
  • DOI:
    10.2340/00015555-1526
  • 发表时间:
    2013
  • 期刊:
  • 影响因子:
    0
  • 作者:
    Takeichi T;Sugiura K;Arai H;Ishii K;Kono M;Akiyama M.
  • 通讯作者:
    Akiyama M.
Generalized Pustular Psoriasis Triggered by Amoxicillin in Monozygotic Twins with Compound Heterozygous IL36RN Mutations : Comment on the Article by Navarini et al.
具有复合杂合 IL36RN 突变的同卵双胞胎中阿莫西林引发的全身性脓疱型银屑病:对 Navarini 等人的文章的评论。
  • DOI:
  • 发表时间:
    2014
  • 期刊:
  • 影响因子:
    6.5
  • 作者:
    Sugiura K;Shoda Y;Akiyama M.
  • 通讯作者:
    Akiyama M.
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AKIYAMA Masashi其他文献

AKIYAMA Masashi的其他文献

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{{ truncateString('AKIYAMA Masashi', 18)}}的其他基金

Regulation of NETs formation by VWF and ADAMTS13 binding to neutrophil Siglecs
VWF 和 ADAMTS13 与中性粒细胞 Siglecs 结合调节 NET 形成
  • 批准号:
    19K08829
  • 财政年份:
    2019
  • 资助金额:
    $ 2.41万
  • 项目类别:
    Grant-in-Aid for Scientific Research (C)
Elucidation of pathogenic mechanisms of ichthyosis due to epidermal lipid abnormalities and development of novel therapeutic agents
表皮脂质异常引起的鱼鳞病发病机制的阐明和新型治疗药物的开发
  • 批准号:
    18H02832
  • 财政年份:
    2018
  • 资助金额:
    $ 2.41万
  • 项目类别:
    Grant-in-Aid for Scientific Research (B)
Analysis of generation mechanisms of somatic revertant mutations and development of their control methods aiming at new cell medicine strategy
针对新的细胞医学策略,分析体细胞回复突变的产生机制并开发其控制方法
  • 批准号:
    18K19540
  • 财政年份:
    2018
  • 资助金额:
    $ 2.41万
  • 项目类别:
    Grant-in-Aid for Challenging Research (Exploratory)
Elucidation of novel pathomechanisms due to defects in remote enhancers and chromatin domain TADs in genodermatosis
阐明遗传性​​皮肤病中远程增强子和染色质结构域 TAD 缺陷导致的新病理机制
  • 批准号:
    16K15547
  • 财政年份:
    2016
  • 资助金额:
    $ 2.41万
  • 项目类别:
    Grant-in-Aid for Challenging Exploratory Research
Empirical study of gene therapy applicable to genetic diseases due to variable mutations, based on introduction of confining mutations
基于限制突变的引入,适用于可变突变引起的遗传病的基因治疗的实证研究
  • 批准号:
    15K15415
  • 财政年份:
    2015
  • 资助金额:
    $ 2.41万
  • 项目类别:
    Grant-in-Aid for Challenging Exploratory Research
Elucidation of roles of lipid mediators in the epidermis to innovate novel therapeutic strategies for keratinization disorders
阐明表皮中脂质介质的作用,以创新角化疾病的新治疗策略
  • 批准号:
    15H04887
  • 财政年份:
    2015
  • 资助金额:
    $ 2.41万
  • 项目类别:
    Grant-in-Aid for Scientific Research (B)
Crystal structure analysis for the pathogenesis of thrombosis
血栓发病机制的晶体结构分析
  • 批准号:
    23570155
  • 财政年份:
    2011
  • 资助金额:
    $ 2.41万
  • 项目类别:
    Grant-in-Aid for Scientific Research (C)
Innovation of novel treatments for various phenotypes of ichthyosis by restoration of ABCA12 lipid transporter gene expression
通过恢复ABCA12脂质转运蛋白基因表达来创新治疗各种表型鱼鳞病的新疗法
  • 批准号:
    23249058
  • 财政年份:
    2011
  • 资助金额:
    $ 2.41万
  • 项目类别:
    Grant-in-Aid for Scientific Research (A)
Molecular mechanism of TSLP production in keratinocytes in atopic dermatitis
特应性皮炎角质形成细胞产生 TSLP 的分子机制
  • 批准号:
    23659546
  • 财政年份:
    2011
  • 资助金额:
    $ 2.41万
  • 项目类别:
    Grant-in-Aid for Challenging Exploratory Research
Crystal structures of the noncatalytic domains of ADAMTS13 reveal multiple discontinuous exosites for von Willebrand factor.
ADAMTS13 非催化域的晶体结构揭示了冯维勒布兰德因子的多个不连续外位点。
  • 批准号:
    20570120
  • 财政年份:
    2008
  • 资助金额:
    $ 2.41万
  • 项目类别:
    Grant-in-Aid for Scientific Research (C)
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