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RNA Expression Patterns in Autism

RNA Expression Patterns in Autism
自闭症中的 RNA 表达模式
批准号:
8231454
负责人:
LOUIS M KUNKEL
金额:
$71.03万
依托单位:
依托单位国家:
美国
项目类别:
财政年份:
2008
资助国家:
美国
项目状态:
已结题
起止时间:
2008-07-22 至 2013-12-31

项目摘要

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中文摘要
翻译
自闭症谱系障碍(ASD)包括一系列障碍,包括自闭症, 广泛性发育障碍-未另行说明(PDD-NOS)、普氏症和Rett 综合征这项提议的工作假设是,ASD患者在大脑中经历了干扰。 遗传易感性、环境触发因素和经验介导的神经元之间复杂的相互作用 在发育的敏感期,这会导致基因表达程序的改变。 因此,作为该疾病特征的神经功能障碍是由遗传变异引起的。 突触发育、成熟、完善和连接的过程,这些过程通常会塑造大脑, 因为环境的伤害扰乱了正常的经验依赖性突触发育。这项建议 提供了一种新的方法,旨在解开遗传机制,改善诊断,破译 环境和遗传学之间的相互作用,并制定合理的治疗方法。
英文摘要
The Autism Spectrum Disorders (ASD) encompass a spectrum of disorders which include autism, Pervasive Developmental Disorder - Not Otherwise Specified (PDD-NOS), Asperger"s disorder and Rett syndrome. The working hypothesis of this proposal is that individuals with ASD experience disturbances in the intricate interplay between genetic predisposition, environmental triggers and experience-mediated neuronal activity during a sensitive period of development, and that this leads to an altered program of gene expression. Thus the neurological disabilities that are characteristic of the disorder result from genetic variability in the processes of synaptic development, maturation, refinement, and connectivity that normally shape the brain, and from an environmental insult that perturbs normal experience-dependant synaptic development. This proposal offers a novel approach aimed at unraveling the genetic mechanisms, improving diagnosis, deciphering the interplay between environment and genetics, and developing rational approaches to therapy.
期刊论文(3)
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会议论文
Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder.
单倍型结构能够优先考虑自闭症谱系障碍中的常见标记和候选基因。
DOI: 10.1038/tp.2013.38
发表时间: 2013
期刊: Translational psychiatry
影响因子: 6.8
作者: [Vardarajan,BN, Eran,A, Jung,J-Y, Kunkel,LM, Wall,DP]
通讯作者: Wall,DP
Molecular Genetics Core
  • 批准号:
    9229201
  • 项目类别:
  • 资助金额:
    $11.38万
  • 财政年份:
    2016
  • 负责人:
    LOUIS M KUNKEL
  • 依托单位:
MANIPULATION OF PTEN/AKT SIGNALING IN DUCHENNE MUSCULAR DYSTROPHY AS A MEANS OF T
  • 批准号:
    8828567
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    $38.83万
  • 财政年份:
    2014
  • 负责人:
    LOUIS M KUNKEL
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Modulation of Jagged1/Pitpna in DMD as a means of therapy
  • 批准号:
    10447111
  • 项目类别:
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    $38.55万
  • 财政年份:
    2014
  • 负责人:
    LOUIS M KUNKEL
  • 依托单位:
Modulation of Jagged1/Pitpna in DMD as a means of therapy
  • 批准号:
    10218057
  • 项目类别:
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  • 财政年份:
    2014
  • 负责人:
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  • 依托单位:
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