Wdr62 in neural development and malformations of cortical development disease
Wdr62 在神经发育和皮质发育畸形疾病中的作用
基本信息
- 批准号:8795739
- 负责人:
- 金额:$ 20.09万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2012
- 资助国家:美国
- 起止时间:2012-08-01 至 2016-12-31
- 项目状态:已结题
- 来源:
- 关键词:Affinity ChromatographyAllelesBacterial Artificial ChromosomesBehaviorBrainBrain DiseasesCell CycleCell ProliferationCell physiologyCentrosomeCongenital AbnormalityCortical MalformationDataDevelopmentDevelopmental DisabilitiesDiseaseElectroporationEtiologyExhibitsFibroblast Growth FactorFoundationsGenerationsGenesGenetic studyGoalsHumanHuman GeneticsImmigrationIndividualInterphaseInterphase CellKnock-outKnockout MiceKnowledgeLeadLigaseLinkMediatingMedicalMentorsMethodsMicrocephalyMitotic spindleMusMutant Strains MiceMutateMutationNeural Tube DefectsNeuronsPhasePhysiologicalPlant RootsProteinsRegulatory ElementRoleSignal TransductionTestingTransgenic Micebasegenetic approachimprovedin uteroin vitro testingin vivoinsightloss of functionmalformation in cortical developmentmigrationmouse modelmutantnerve stem cellnervous system disorderneurodevelopmentneurogenesisnovelprotein functionrelating to nervous systemself-renewalspatiotemporalubiquitin-protein ligase
项目摘要
ABSTRACT: Malformations of cortical development (MCD) represent a major cause of developmental
disabilities and are at the root of numerous neurological disorders. Although human genetic studies have
established a link between a class of centrosome proteins and MCD, the in vivo functions of these proteins and
the pathophysiological mechanisms of MCD diseases remain obscure. Focusing on one MCD disease-
associated gene Wdr62, which encodes a centrosome protein, the goals of this proposal are to determine the in
vivo roles and functional mechanisms of Wdr62 during normal cortical development and to investigate how
Wdr62 mutations lead to a wide spectrum of MCD disorders. Three specific aims are proposed over the next 5
years. The first is to use mouse genetic approaches to determine the developmental and cellular functions of
Wdr62 in normal cortical development. The second is to test the in vitro and in vivo roles of individual Wdr62
disease-associated mutations during cortical development. My last aim is to develop a new affinity purification
method to identify the regulators that mediate WDR62 functions from developing mouse brains. These studies
will advance the field not only by providing novel insights into the physiological functions and mechanisms of
action of Wdr62, but also by contributing fundamental knowledge to elucidate the etiologies of MCD diseases.
ABSTRACT: Malformations of cortical development (MCD) represent a major cause of developmental
残疾,是许多神经系统疾病的根源。尽管人类遗传学研究
established a link between a class of centrosome proteins and MCD, the in vivo functions of these proteins and
the pathophysiological mechanisms of MCD diseases remain obscure.专注于一种 MCD 疾病 -
associated gene Wdr62, which encodes a centrosome protein, the goals of this proposal are to determine the in
vivo roles and functional mechanisms of Wdr62 during normal cortical development and to investigate how
Wdr62 mutations lead to a wide spectrum of MCD disorders.提出了未来 5 年的三个具体目标
年。 The first is to use mouse genetic approaches to determine the developmental and cellular functions of
正常皮质发育中的 Wdr62。第二个是测试单个Wdr62的体外和体内作用
皮质发育过程中与疾病相关的突变。我的最后一个目标是开发一种新的亲和纯化方法
鉴定介导发育中小鼠大脑 WDR62 功能的调节因子的方法。这些研究
will advance the field not only by providing novel insights into the physiological functions and mechanisms of
Wdr62 的作用,还通过贡献基础知识来阐明 MCD 疾病的病因。
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
数据更新时间:{{ journalArticles.updateTime }}
{{
item.title }}
{{ item.translation_title }}
- DOI:
{{ item.doi }} - 发表时间:
{{ item.publish_year }} - 期刊:
- 影响因子:{{ item.factor }}
- 作者:
{{ item.authors }} - 通讯作者:
{{ item.author }}
数据更新时间:{{ journalArticles.updateTime }}
{{ item.title }}
- 作者:
{{ item.author }}
数据更新时间:{{ monograph.updateTime }}
{{ item.title }}
- 作者:
{{ item.author }}
数据更新时间:{{ sciAawards.updateTime }}
{{ item.title }}
- 作者:
{{ item.author }}
数据更新时间:{{ conferencePapers.updateTime }}
{{ item.title }}
- 作者:
{{ item.author }}
数据更新时间:{{ patent.updateTime }}
Jianfu Chen其他文献
Jianfu Chen的其他文献
{{
item.title }}
{{ item.translation_title }}
- DOI:
{{ item.doi }} - 发表时间:
{{ item.publish_year }} - 期刊:
- 影响因子:{{ item.factor }}
- 作者:
{{ item.authors }} - 通讯作者:
{{ item.author }}
{{ truncateString('Jianfu Chen', 18)}}的其他基金
Selective neurovascular regulation by a vascular dementia-related noncoding RNA Snord118
血管性痴呆相关非编码 RNA Snord118 的选择性神经血管调节
- 批准号:
10435866 - 财政年份:2022
- 资助金额:
$ 20.09万 - 项目类别:
Neurovascular functions of a small RNA Snord118-mediated ribosome biogenesis
小RNA Snord118 介导的核糖体生物发生的神经血管功能
- 批准号:
10355240 - 财政年份:2022
- 资助金额:
$ 20.09万 - 项目类别:
Mechanisms regulating neural progenitor expansion in the developing brain
调节大脑发育中神经祖细胞扩张的机制
- 批准号:
9557551 - 财政年份:2016
- 资助金额:
$ 20.09万 - 项目类别:
Mechanisms regulating neural progenitor expansion in the developing brain
调节大脑发育中神经祖细胞扩张的机制
- 批准号:
10009484 - 财政年份:2016
- 资助金额:
$ 20.09万 - 项目类别:
Genetic analysis of a microRNA pathway regulating neural tube closure
调节神经管闭合的 microRNA 通路的遗传分析
- 批准号:
9564399 - 财政年份:2016
- 资助金额:
$ 20.09万 - 项目类别:
Genetic analysis of a microRNA pathway regulating neural tube closure
调节神经管闭合的 microRNA 通路的遗传分析
- 批准号:
9248454 - 财政年份:2016
- 资助金额:
$ 20.09万 - 项目类别:
Mechanisms regulating neural progenitor expansion in the developing brain
调节大脑发育中神经祖细胞扩张的机制
- 批准号:
9151528 - 财政年份:2016
- 资助金额:
$ 20.09万 - 项目类别:
Mechanisms regulating neural progenitor expansion in the developing brain
调节大脑发育中神经祖细胞扩张的机制
- 批准号:
9316724 - 财政年份:2016
- 资助金额:
$ 20.09万 - 项目类别:
Genetic analysis of a microRNA pathway regulating neural tube closure
调节神经管闭合的 microRNA 通路的遗传分析
- 批准号:
9075831 - 财政年份:2016
- 资助金额:
$ 20.09万 - 项目类别:
Mechanisms regulating neural progenitor expansion in the developing brain
调节大脑发育中神经祖细胞扩张的机制
- 批准号:
9768241 - 财政年份:2016
- 资助金额:
$ 20.09万 - 项目类别:
相似海外基金
Linkage of HIV amino acid variants to protective host alleles at CHD1L and HLA class I loci in an African population
非洲人群中 HIV 氨基酸变异与 CHD1L 和 HLA I 类基因座的保护性宿主等位基因的关联
- 批准号:
502556 - 财政年份:2024
- 资助金额:
$ 20.09万 - 项目类别:
Olfactory Epithelium Responses to Human APOE Alleles
嗅觉上皮对人类 APOE 等位基因的反应
- 批准号:
10659303 - 财政年份:2023
- 资助金额:
$ 20.09万 - 项目类别:
Deeply analyzing MHC class I-restricted peptide presentation mechanistics across alleles, pathways, and disease coupled with TCR discovery/characterization
深入分析跨等位基因、通路和疾病的 MHC I 类限制性肽呈递机制以及 TCR 发现/表征
- 批准号:
10674405 - 财政年份:2023
- 资助金额:
$ 20.09万 - 项目类别:
An off-the-shelf tumor cell vaccine with HLA-matching alleles for the personalized treatment of advanced solid tumors
具有 HLA 匹配等位基因的现成肿瘤细胞疫苗,用于晚期实体瘤的个性化治疗
- 批准号:
10758772 - 财政年份:2023
- 资助金额:
$ 20.09万 - 项目类别:
Identifying genetic variants that modify the effect size of ApoE alleles on late-onset Alzheimer's disease risk
识别改变 ApoE 等位基因对迟发性阿尔茨海默病风险影响大小的遗传变异
- 批准号:
10676499 - 财政年份:2023
- 资助金额:
$ 20.09万 - 项目类别:
New statistical approaches to mapping the functional impact of HLA alleles in multimodal complex disease datasets
绘制多模式复杂疾病数据集中 HLA 等位基因功能影响的新统计方法
- 批准号:
2748611 - 财政年份:2022
- 资助金额:
$ 20.09万 - 项目类别:
Studentship
Genome and epigenome editing of induced pluripotent stem cells for investigating osteoarthritis risk alleles
诱导多能干细胞的基因组和表观基因组编辑用于研究骨关节炎风险等位基因
- 批准号:
10532032 - 财政年份:2022
- 资助金额:
$ 20.09万 - 项目类别:
Recessive lethal alleles linked to seed abortion and their effect on fruit development in blueberries
与种子败育相关的隐性致死等位基因及其对蓝莓果实发育的影响
- 批准号:
22K05630 - 财政年份:2022
- 资助金额:
$ 20.09万 - 项目类别:
Grant-in-Aid for Scientific Research (C)
Investigating the Effect of APOE Alleles on Neuro-Immunity of Human Brain Borders in Normal Aging and Alzheimer's Disease Using Single-Cell Multi-Omics and In Vitro Organoids
使用单细胞多组学和体外类器官研究 APOE 等位基因对正常衰老和阿尔茨海默病中人脑边界神经免疫的影响
- 批准号:
10525070 - 财政年份:2022
- 资助金额:
$ 20.09万 - 项目类别:
Leveraging the Evolutionary History to Improve Identification of Trait-Associated Alleles and Risk Stratification Models in Native Hawaiians
利用进化历史来改进夏威夷原住民性状相关等位基因的识别和风险分层模型
- 批准号:
10689017 - 财政年份:2022
- 资助金额:
$ 20.09万 - 项目类别: