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Cardiomyopathy Genomes Project

Cardiomyopathy Genomes Project
心肌病基因组计划
批准号：
10406096
负责人：
Elizabeth M McNally
金额：
$3.77万
依托单位：
NORTHWESTERN UNIVERSITY AT CHICAGO
依托单位国家：
美国
项目类别：
财政年份：
2021
资助国家：
美国
项目状态：
已结题
起止时间：
2021-09-08 至 2022-02-28
来源：
https://reporter.nih.gov/project-details/10406096
关键词：
ActinsAction PotentialsArrhythmiaAutophagocytosisBCL2 geneBindingC-terminalCRISPR/Cas technologyCardiacCardiac MyocytesCardiomyopathiesCause of DeathCell LineCell membraneCell physiologyCellsCodeCytoskeletal ProteinsDNA Sequence AlterationDevelopmentDiagnosisDilated CardiomyopathyDimerizationDiseaseElectrophysiology (science)EtiologyFLNC geneFamilyGenesGeneticGenomeGrantHeartHeart AbnormalitiesHeart failureHomeostasisImpairmentInheritedInjuryIsoproterenolLeadLeft Ventricular Ejection FractionLeft ventricular structureLinkMediatingMolecularMolecular ChaperonesMuscle WeaknessMuscle functionMutateMutationMyocardiumMyopathyN-terminalPathogenicityPathway interactionsPatientsPatternPersonsPhysiological ProcessesPlayPositioning AttributePropertyProteasome InhibitorProteinsRiskRodRoleSarcolemmaSarcomeresSignal PathwaySignal TransductionSiteSkeletal MuscleStressStriated MusclesStructureTestingUbiquitinUntranslated RNAUp-RegulationVariantWorkZebrafishblood pumpcardioprotectioncitrate carrierconnectinfilaminhandicapping conditionheart dimension/sizeheart functionheart rhythmimprovedinduced pluripotent stem cellinherited cardiomyopathymisfolded proteinmulticatalytic endopeptidase complexmutantprotein aggregationprotein expressionprotein foldingproteotoxicityresponsesudden cardiac death

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R01 HL128075 GRANT SUMMARY: As a leading cause of death, heart failure has become a pivotal focal point and increasingly recognized as being under genetic influence. Having a greater understanding of the mechanisms underlying heart failure and cardiomyopathy will improve application of current treatments and stimulate the development of new treatments. Through this work, we are interrogating both coding and noncoding regions for their role in the genesis and progression of heart failure. This diversity supplement is examining mechanisms of FLNC (filamin C) related cardiomyopathy since mutations in FLNC cause cardiomyopathy associated with arrhythmia burden.
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会议论文
Bridging Basic and Translational Science in Cardiovascular Disease
New Frontiers in Cardiovascular Research and Therapy
Failed Regeneration in the Muscular Dystrophies: Inflammation, Fibrosis and Fat - Administrative Supplement
  • 批准号：
    10212504
  • 项目类别：
  • 资助金额：
    $40.39万
  • 财政年份：
    2020
  • 负责人：
    Elizabeth M McNally
  • 依托单位：
    UNIVERSITY OF FLORIDA
New Directions in Biology and Disease of Skeletal Muscle
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