grant
Pathogenesis of Vascular Anomalies with GNAQ mutations
Organization CINCINNATI CHILDRENS HOSP MED CTRLocation CINCINNATI, UNITED STATESPosted 1 Apr 2024Deadline 31 Mar 2028
NIHUS FederalResearch GrantFY2025AddressAffectAnimal ModelAnimal Models and Related StudiesAutomobile DrivingBlood Coagulation DisordersBlood Coagulation Factor IIIBlood PlateletsBlood VesselsBlood capillariesBody TissuesCD142 AntigensCell BodyCell Communication and SignalingCell Growth in NumberCell MultiplicationCell ProliferationCell SignalingCellsCellular ProliferationCoagulation DisorderCoagulation Factor IIICoagulinCoagulopathyComplicationDNA mutationDataDefectDevelopmentDiseaseDisease ProgressionDisorderDrug TargetingEndothelial CellsEndotheliumEsteroproteasesExtracellular Signal-Regulated Kinase GeneFactor IIIFibrinG-substrateGAQGNAQGNAQ geneGene FamilyGeneralized GrowthGenerationsGenesGeneticGenetic ChangeGenetic defectGenetic mutationGlomerular Procoagulant ActivityGoalsGrowthHemostatic AgentsHemostaticsHyperactivityIn VitroIncrease lifespanIntracellular Communication and SignalingIntraocular MelanomaKnowledgeLesionLifeLobuleMAP Kinase GeneMAPKMEKsMaintenanceMarrow plateletMitogen-Activated Protein Kinase GeneModelingMolecularMolecular TargetMorphogenesisMutant Strains MiceMutateMutationPathogenesisPathologicPathway interactionsPatientsPeptidasesPeptide HydrolasesPhysiologicPhysiologicalPlateletsPolymersPositionPositioning AttributeProliferatingProtease GeneProteasesProteinasesProteinsProteolytic EnzymesProthrombinaseResearchRoleSignal PathwaySignal TransductionSignal Transduction SystemsSignalingStudy modelsSystemTestingThrombaseThrombinThrombocytesThrombocytopeniaThrombopeniaThromboplastinTissue FactorTissue Factor ProcoagulantTissue GrowthTissue ThromboplastinTissuesTransgenic OrganismsTreatment EfficacyUpregulationUrothromboplastinUveal MelanomaVascular DiseasesVascular DisorderVascular Permeabilitiesbiological signal transductionbleeding disorderblood perfusionblood vessel disorderboost longevitycapillarycerebellum protein substrate for cGMP dependent protein kinasechip modelchip systemchronic painclotting disorderdevelopmentaldisease phenotypedrivingelongating the lifespanenhance longevityexperienceexperimentexperimental researchexperimental studyexperimentsextend life spanextend lifespanextend longevityfibrinogenasefoster longevitygain of functiongenome mutationguanine nucleotide binding proteinimprove lifespanimprove longevityimprovedin vivoinhibitorinnovateinnovationinnovativeinsightintervention efficacylifespan extensionmodel of animalmorphogenetic processmouse modelmouse mutantmurine modelmutantnew drug treatmentsnew drugsnew pharmacological therapeuticnew therapeuticsnew therapynext generation therapeuticsnovelnovel drug treatmentsnovel drugsnovel pharmaco-therapeuticnovel pharmacological therapeuticnovel therapeuticsnovel therapyon a chipon chipontogenyoverexpressoverexpressionpathwaypharmacologicpolymerpolymericpre-clinical developmentpre-clinical studypreclinical developmentpreclinical studypreventpreventingprogramsprolong lifespanprolong longevitypromote lifespanpromote longevityprotein Gprotein activationresponsesocial rolesupport longevitytargeted drug therapytargeted drug treatmentstargeted therapeutictargeted therapeutic agentstargeted therapytargeted treatmenttherapeutic efficacytherapeutic targettherapy efficacytranscriptomicstransgenicuvea melanomavascularvascular abnormalityvascular dysfunctionvasculopathyvenule
Description preview
PROJECT SUMMARY/ ABSTRACT:
Hyperactive, postzygotic mutations in the GNAQ gene (encoding for Gaq proteins) have been identified in
vascular anomalies. Patients affected by this class of vascular anomalies experience extensive disfigurement
and can develop a life-threatening coagulopathy termed Kasabach-Merritt Phenomenon (KMP). Despite these…
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