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Molecular Pathogenesis of the Cardiomyogenic Defects in LEOPARD Syndrome

Molecular Pathogenesis of the Cardiomyogenic Defects in LEOPARD Syndrome
LEOPARD 综合征心肌源性缺陷的分子发病机制
批准号：
7323256
负责人：
Maria I Kontaridis
金额：
$8.8万
依托单位：
BETH ISRAEL DEACONESS MEDICAL CENTER
依托单位国家：
美国
项目类别：
财政年份：
2006
资助国家：
美国
项目状态：
已结题
起止时间：
2006-12-01 至 2008-05-31
来源：
https://reporter.nih.gov/project-details/7323256
关键词：
AffectAllelesAwardBindingBiochemicalBiochemistryC-terminalCardiacCardiac MyocytesCardiologyCellsClinicalComplexCongenital Heart DefectsDataDefectDevelopmentDevelopmental BiologyDevelopmental ProcessDilated CardiomyopathyDiseaseDominant-Negative MutationEmbryoEnzymesEventFaceFunctional disorderGene MutationGenesGeneticGenitaliaGoalsGrowthHeartHeart DiseasesHypertrophic CardiomyopathyInstitutionKnock-in MouseKnowledgeLEOPARD SyndromeLeadMAP Kinase ModulesMapsMediatingMentorsModelingMolecularMolecular ConformationMultiple LentiginesMusMutateMutationMyocardialN-terminalNoonan SyndromeOrbital separation excessivePTPN11 genePathogenesisPathway interactionsPatientsPenetrancePhasePhenotypePhosphoric Monoester HydrolasesPhosphorylation SitePhosphotransferasesPhosphotyrosineProcessProlineProtein Tyrosine PhosphataseProteinsPublishingPulmonary Valve StenosisReceptor Protein-Tyrosine KinasesRegulationResearchResearch PersonnelScientistSensorineural Hearing LossSignal PathwaySignal TransductionSignaling MoleculeSiteSkeletal systemStenosisStretchingSyndromeSystemTailTestingTrainingTyrosine Phosphorylation SiteVariantVentricular Septal DefectsWorkbasecardiogenesiscareercongenital heart disordergain of functiongain of function mutationin vivointerestloss of function mutationmutantpostnatalprogramsreceptorskillssrc Homology Region 2 Domaintranscription factor

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