MATERNAL, FETAL & ENVIRONMENTAL CAUSES OF BIRTH DEFECTS

母体、胎儿

基本信息

项目摘要

DESCRIPTION: (Adapted from the Applicant's Description) The current proposal is based on the premise that a full understanding of the genetic architecture for many birth defects will only be obtained if "higher-order" effects such as gene-environment (GxE) interactions, gene-gene (GxG) interactions and maternal genotypic effects are evaluated in concert with more traditional epidemiological and genetic risk factors. Moreover, recent advances in molecular and statistical genetics provide a foundation upon which to build studies that address the role of higher-order effects, when such effects are suggested by current understanding of a disease's etiology. The investigators propose to evaluate the role of GxE interactions, GxG interactions and maternal effects in the etiology of two groups of birth defects: neural tube defects and cranial abnormalities including craniosynostosis and nonsynostotic posterior plagiocephaly (CSINSPP). These conditions were selected from other potential candidates because current understanding of their etiologies support multiple hypotheses regarding higher-order effects. Hence, for these conditions in particular, it is now feasible to begin to construct a multi- dimensional blueprint of their genetic architecture. They will use state-of- the-art genotyping methods, including high-throughput array technologies, and employ state-of-the-art statistical approaches to evaluate the role of higher- order effects in the etiology of spina bifida and CS/NSPP.
描述:(改编自申请人的描述)当前的提案

项目成果

期刊论文数量(9)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
Association between the NAT1 1095C > A polymorphism and homocysteine concentration.
NAT1 1095C > A 多态性与同型半胱氨酸浓度之间的关联。
  • DOI:
    10.1002/ajmg.a.31475
  • 发表时间:
    2006
  • 期刊:
  • 影响因子:
    0
  • 作者:
    Stanisławska-Sachadyn,Anna;Jensen,LiselotteE;Kealey,Carmel;Woodside,JayneV;Young,IanS;Scott,JohnM;Murray,Liam;Boreham,ColinA;McNulty,Helene;Strain,JJ;Whitehead,AlexanderS
  • 通讯作者:
    Whitehead,AlexanderS
Spina bifida.
  • DOI:
    10.1038/nrdp.2015.7
  • 发表时间:
    2015-04-30
  • 期刊:
  • 影响因子:
    0
  • 作者:
    Copp AJ;Adzick NS;Chitty LS;Fletcher JM;Holmbeck GN;Shaw GM
  • 通讯作者:
    Shaw GM
Exon sequencing of PAX3 and T (brachyury) in cases with spina bifida.
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LAURA E. MITCHELL其他文献

LAURA E. MITCHELL的其他文献

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{{ truncateString('LAURA E. MITCHELL', 18)}}的其他基金

Maternal Genes that Control Early Embryonic Development as Risk Factors for Congenital Heart Defects
控制早期胚胎发育的母体基因是先天性心脏病的危险因素
  • 批准号:
    9982092
  • 财政年份:
    2019
  • 资助金额:
    $ 45.47万
  • 项目类别:
Spina Bifida and Maternal Weight: Moving from Association to Prevention
脊柱裂和母亲体重:从关联转向预防
  • 批准号:
    9020605
  • 财政年份:
    2015
  • 资助金额:
    $ 45.47万
  • 项目类别:
Seventh, Eighth & Ninth International Neural Tube Defects Conferences
第七、第八
  • 批准号:
    8204109
  • 财政年份:
    2011
  • 资助金额:
    $ 45.47万
  • 项目类别:
Environmental Determinants of Neural Tube Defects
神经管缺陷的环境决定因素
  • 批准号:
    6901623
  • 财政年份:
    2005
  • 资助金额:
    $ 45.47万
  • 项目类别:
The spina bifida research resource
脊柱裂研究资源
  • 批准号:
    7041797
  • 财政年份:
    2004
  • 资助金额:
    $ 45.47万
  • 项目类别:
Dissection of the VCFS phenotype--Palatal anomalies
VCFS表型剖析--腭部异常
  • 批准号:
    6660516
  • 财政年份:
    2002
  • 资助金额:
    $ 45.47万
  • 项目类别:
Pharmacogenetic Epidemiology of Birth Defects and Cancer
出生缺陷和癌症的药物遗传学流行病学
  • 批准号:
    6477759
  • 财政年份:
    2002
  • 资助金额:
    $ 45.47万
  • 项目类别:
Dissection of the VCFS phenotype--Palatal anomalies
VCFS表型剖析--腭部异常
  • 批准号:
    6564045
  • 财政年份:
    2002
  • 资助金额:
    $ 45.47万
  • 项目类别:
Dissection of the VCFS phenotype--Palatal anomalies
VCFS表型剖析--腭部异常
  • 批准号:
    6414847
  • 财政年份:
    2001
  • 资助金额:
    $ 45.47万
  • 项目类别:
Maternal and Embryonic Causes of Spina Bifida
脊柱裂的母体和胚胎原因
  • 批准号:
    7216691
  • 财政年份:
    2000
  • 资助金额:
    $ 45.47万
  • 项目类别:
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