Genetic and functional analysis of YPEL3 and its link to disease
Genetic and functional analysis of YPEL3 and its link to disease
批准号:
9070011
负责人:
Monte Westerfield
金额:
$19.58万
依托单位:
依托单位国家:
美国
项目类别:
财政年份:
2015
资助国家:
美国
项目状态:
已结题
起止时间:
2015-06-01 至 2017-05-31
关键词:
AllelesAnimal ModelAnteriorAntibodiesApoptoticBehaviorBiochemicalBiochemical PathwayBiochemistryCandidate Disease GeneCell AgingCell Culture TechniquesCell SurvivalCellsCellular biologyCessation of lifeChildhoodClustered Regularly Interspaced Short Palindromic RepeatsCollaborationsComplexCorneaCpG IslandsDNADNA DamageDiagnosisDiseaseEtiologyEyeEye DevelopmentFamilyFemaleFunctional disorderFutureGenesGeneticGenotypeGrowthHumanHypermethylationLeadLearningLesionLinkLocationModelingMolecularMolecular ProfilingMuscle hypotoniaMutationMyelogenousNatureNerveNeural ConductionNormal CellPathogenicityPathway interactionsPatientsPatternPeripheral NervesPhenotypePhysiologicalPhysiologyProcessProteinsRare DiseasesRegulationResolutionResponse ElementsRetinaReverse Transcriptase Polymerase Chain ReactionRoleSensoryTachycardiaTechniquesTestingTransgenesTransgenic OrganismsTumor Suppressor ProteinsUnited States National Institutes of HealthVariantZebrafishbasedesignexpression vectorgenetic variantheart functioninsightloss of functionloss of function mutationmRNA Expressionmutantmyelinationneoplastic cellneuron developmentnovelprecursor cellprogramspromoterpublic health relevanceresearch studysmall hairpin RNAtranscriptome sequencingvisual motor
中文摘要
描述(由申请人提供):该项目将与NIH校内未诊断疾病计划(NIH-UDP)合作进行功能研究,以调查与通过NIH-UDP鉴定的YPEL 3基因变体相关的新型疾病的潜在遗传学,生物化学,细胞生物学和病理生理学。
英文摘要
DESCRIPTION (provided by applicant): This project will conduct functional studies in collaboration with the NIH Intramural Undiagnosed Diseases Program (NIH-UDP) to investigate the underlying genetics, biochemistry, cell biology, and pathophysiology of a novel disease that has been linked to a variant of the YPEL3 gene identified through the NIH-UDP.
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会议论文
Zebrafish International Resource Center
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批准号:10516402
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项目类别:
-
资助金额:$4.31万
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财政年份:2022
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负责人:Monte Westerfield
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依托单位:
Zebrafish Core
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批准号:10201759
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项目类别:
-
资助金额:$25.42万
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财政年份:2015
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负责人:Monte Westerfield
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依托单位:
Resource to support Usher syndrome research
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批准号:8181474
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项目类别:
-
资助金额:$31.63万
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财政年份:2011
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负责人:Monte Westerfield
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依托单位:
Resource to support Usher syndrome research
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批准号:8332838
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项目类别:
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资助金额:$30.8万
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财政年份:2011
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负责人:Monte Westerfield
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依托单位:
Resource to support Usher syndrome research
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批准号:8486502
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项目类别:
-
资助金额:$29.29万
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财政年份:2011
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负责人:Monte Westerfield
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依托单位:
The functions of PDZ domain scaffold proteins in Usher syndrome
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批准号:8099700
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项目类别:
-
资助金额:$29.21万
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财政年份:2010
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负责人:Monte Westerfield
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依托单位:
The functions of PDZ domain scaffold proteins in Usher syndrome
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批准号:8471097
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项目类别:
-
资助金额:$27.75万
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财政年份:2010
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负责人:Monte Westerfield
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依托单位:
The functions of PDZ domain scaffold proteins in Usher syndrome
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批准号:8662744
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项目类别:
-
资助金额:$33.62万
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财政年份:2010
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负责人:Monte Westerfield
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依托单位:
The functions of PDZ domain scaffold proteins in Usher syndrome
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批准号:8301725
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项目类别:
-
资助金额:$29.21万
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财政年份:2010
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负责人:Monte Westerfield
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依托单位:
Zebrafish International Resource Center
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批准号:7920734
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项目类别:
-
资助金额:$78.69万
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财政年份:2009
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负责人:Monte Westerfield
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依托单位:
Zebrafish International Resource Center
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批准号:7920733
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项目类别:
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资助金额:$82.79万
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财政年份:2009
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负责人:Monte Westerfield
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依托单位:
Reciprocal Signaling In Synaptogenesis
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批准号:7301405
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项目类别:
-
资助金额:$35.68万
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财政年份:2007
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负责人:Monte Westerfield
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依托单位:
ZEBRAFISH INTERNATIONAL RESOURCE CENTER
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批准号:7392010
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项目类别:
-
资助金额:$152.21万
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财政年份:2006
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负责人:Monte Westerfield
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依托单位:
ZFIN:THE ZEBRAFISH MODEL ORGANISM DATABASE
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批准号:7181166
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项目类别:
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资助金额:$3.0万
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财政年份:2005
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负责人:Monte Westerfield
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依托单位:
ZEBRAFISH INTERNATIONAL RESOURCE CENTER
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批准号:7153954
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项目类别:
-
资助金额:$159.04万
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财政年份:2005
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负责人:Monte Westerfield
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依托单位:
CORE- ZEBRAFISH INTERNATIONAL RESOURCE CENTER
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批准号:6982657
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项目类别:
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资助金额:$143.64万
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财政年份:2004
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负责人:Monte Westerfield
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依托单位:
ZFIN: The Zebrafish Model Organism Database
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批准号:9270034
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项目类别:
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资助金额:$316.8万
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财政年份:2003
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负责人:Monte Westerfield
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依托单位:
ZFIN:The Zebrafish Model Organism Database
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批准号:6557613
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项目类别:
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资助金额:$189.56万
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财政年份:2003
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负责人:Monte Westerfield
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依托单位:
ZFIN:The Zebrafish Model Organism Database
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批准号:6864835
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项目类别:
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资助金额:$258.4万
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财政年份:2003
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负责人:Monte Westerfield
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依托单位:
ZFIN: The Zebrafish Model Organism Database
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批准号:8243035
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项目类别:
-
资助金额:$351.59万
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财政年份:2003
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负责人:Monte Westerfield
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依托单位:
海外基金