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The elucidation of the genetic background of osteogenesis imperfecta : Deployment to the custom-made medical treatment by a genotype.

The elucidation of the genetic background of osteogenesis imperfecta : Deployment to the custom-made medical treatment by a genotype.
成骨不全症遗传背景的阐明：通过基因型部署定制医疗。
批准号：
21591309
负责人：
KANNO Junko
金额：
$2.58万
依托单位：
Tohoku University
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (C)
财政年份：
2009
资助国家：
日本
项目状态：
已结题
起止时间：
2009 至 2011
来源：
https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-21591309/
关键词：
骨形成不全症ビスフォスフォネートCOL1A1COL1A2LEPRE1CRTAPMLPA法

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中文摘要
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英文摘要
Sequencing analysis of COL1A1 and COL1A2 in 22 OI patients revealed 14 mutations. Each of the 14 mutations was found only in a single family. COL1A1 and COL1A2 mutant alleles are heterogeneous. Glycine to serine substitutions tend to lead to a more severe phenotype. Most of the patients had blue sclerae and dentinogenesis imperfecta. Bisphosphpnate significantly increased BMD in all the patients, though no correlation was found between the mutated gene or mutation type and increment in BMD.
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会议论文
Elucidation of the molecular basis of osteogenesis imperfecta and novel therapy through activation of Wnt signaling and OASIS
  • 批准号：
    18K07869
  • 项目类别：
    Grant-in-Aid for Scientific Research (C)
  • 资助金额：
    $2.5万
  • 财政年份：
    2018
  • 负责人：
    KANNO Junko
  • 依托单位：
    Tohoku University
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