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Genetic Analysis of left-right axis malformations

Genetic Analysis of left-right axis malformations
左右轴畸形的遗传分析
批准号：
6830465
负责人：
Maximilian Muenke
金额：
$0.0万
依托单位：
NATIONAL HUMAN GENOME RESEARCH INSTITUTE
依托单位国家：
美国
项目类别：
财政年份：
--
资助国家：
美国
项目状态：
未结题
起止时间：
至
来源：
https://reporter.nih.gov/project-details/6830465
关键词：
developmental disease /disorder developmental genetics developmental neurobiology family genetics gene environment interaction gene expression gene mutation genetic disorder genetic mapping heart ventricle human subject organ patient oriented research phenotype postnatal growth disorder

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中文摘要
翻译
对左-右(L-R)轴畸形的复杂遗传学进行了研究，重点研究了与L-R轴畸形常见表型相关的基因，包括部位倒置、异位和器官异构性。L-R轴缺陷可由环境或遗传原因引起，这些研究的目的是通过对这些疾病患者的研究，确定导致正常和异常L-R轴形成的基因。几个这样的基因的突变已被证明与几个家族性和散发性的异质性病例有关：ZIC3、Lefty A、ACVR2B和CFC1。我们还发现了另外几个与L-R发育有关的基因，包括Fast1和GDF1。
英文摘要
A study of the complex genetics of left-right (L-R) axis malformations has been undertaken with an emphasis on those genes that are associated with common phenotypes of L-R disorders, including situs inversus, heterotaxia and organ isomerism. L-R defects can result from either environmental or genetic causes and it is the aim of these investigations to determine the genes responsible for both normal and abnormal L-R axis formation through the study of patients with these disorders. Mutations in several such genes have been shown to be responsible for several familial and sporadic cases of heterotaxia: ZIC3, LEFTY A, ACVR2B, and CFC1. We have identified several additional genes important for L-R development including FAST1 and GDF1.
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会议论文
Beyond the reproductive tract: The future of Y chromosome research
Beyond the reproductive tract: The future of Y chromosome research
Beyond the reproductive tract: The future of Y chromosome research
GENETIC ANALYSIS OF HUMAN BRAIN DEVELOPMENT
  • 批准号：
    2502634
  • 项目类别：
  • 资助金额：
    $39.77万
  • 财政年份：
    1994
  • 负责人：
    Maximilian Muenke
  • 依托单位：
    CHILDREN'S HOSP OF PHILADELPHIA
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