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EVALUATING THE IMPACT OF LOSS OF HETEROZYGOSITY ON LOCALIZED AVM FORMATION IN HHT
Organization TULANE UNIVERSITY OF LOUISIANALocation NEW ORLEANS, UNITED STATESPosted 1 Apr 2024Deadline 31 Mar 2026 ⚠️
NIHUS FederalResearch GrantFY20250-11 years old21+ years oldACVRL1ACVRL1 geneACVRLK1ALK-1Activin A Receptor Type II-Like 1Activin A Receptor, Type II-Like Kinase 1 GeneActivin Receptor-Like Kinase 1 GeneAdultAdult HumanAffectAllelesAllelic LossAllelomorphsAnemiaApoplexyAreaArteriesArteriovenous AngiomaArteriovenous HemangiomaArteriovenous malformationBiologicalBleedingBloodBlood Reticuloendothelial SystemBlood VesselsBlood capillariesBlood flowBone-Derived Transforming Growth FactorBrainBrain AVMsBrain Nervous SystemBrain Vascular AccidentBypassCD105CD105 AntigenCD105 GeneCell BodyCell Communication and SignalingCell SignalingCellsCerebral Arteriovenous MalformationsCerebral StrokeCerebrovascular ApoplexyCerebrovascular StrokeCerebrovascular systemCerebrumCessation of lifeChildChild YouthChildren (0-21)Clonal ExpansionCollaborationsCommunicationComplicationCoupledDNADNA mutationDataDeathDeoxyribonucleic AcidDevelopmentDiagnosisDoseEND GeneENG geneEncephalonEndoglinEndoglin GeneEndothelial CellsEpistaxisExperimental DesignsExtravasationEyeEyeballGene AlterationGene ExpressionGene MutationGenetic ChangeGenetic defectGenetic mutationGerm LinesGerm-Line MutationGoalsHHT1HHT1 GeneHHT2HemorrhageHereditary MutationHereditary hemorrhagic telangiectasiaHeterozygoteIndividualIntracellular Communication and SignalingKnock-outKnockoutLeadLeakageLearningLesionLifeLiverLoss of HeterozygosityLungLung Respiratory SystemMiceMice MammalsMilk Growth FactorModelingMolecular FingerprintingMolecular ProfilingMucosaMucosal TissueMucous MembraneMurineMusMutateMutationNasal HemorrhageNose BleedNosebleedNutrientO elementO2 elementORW GeneORW1ORW1 GeneORW2OrganOrphan DiseaseOsler-Rendu DiseaseOsler-Weber-Rendu DiseaseOxygenParentsPathogenicityPathologyPatientsPb elementPersonsPhenotypePlatelet Transforming Growth FactorPopulationPositionPositioning AttributeProblem SolvingProteinsRacemose AngiomaRacemose HemangiomaRare DiseasesRare DisorderRecurrenceRecurrentResearchResearch InstituteRetinaRetinal Blood VesselsRetinal VesselsRoleRuptureSKR3ScientistSerine/threonine-protein kinase Receptor R3 PrecursorSeveritiesShuntShunt DeviceSignal TransductionSignal Transduction SystemsSignalingSiteSkinSomatic MutationSpillageStimulusStrokeSurfaceTGF BTGF-B Superfamily Receptor Type ITGF-betaTGF-βTGFbetaTGFβTamoxifenTechniquesTelangiectasiaTelangiectasisTestingTherapeutic ResearchTrainingTransforming Growth Factor P Receptor IIITransforming Growth Factor betaTransforming Growth Factor-Beta Family GeneType II-Like Kinase Activin A ReceptorVariantVariationVascular DiseasesVascular DisorderVeinsactivin receptor-like kinase 1adulthoodangiogenesisbiologicbiological signal transductionblood lossblood vessel disorderblood vessels in the brainbrain arteriovenous malformationsbrain attackbrain blood vesselsbrain vasculaturecapillarycapillary bedcerebralcerebral blood vesselcerebral vascular accidentcerebral vasculaturecerebrovascular accidentcerebrovascular vesselscerebrovasculaturedevelopmentalexperiencefunctional lossgene defectgenome mutationgerm-line defectgermline variantheavy metal Pbheavy metal leadhepatic body systemhepatic organ systemheterozygosityinduced Creinducible Creinnovateinnovationinnovativekidsloss of functionloss of function mutationmalformationmolecular profilemolecular signaturemosaicmosaic lossmouse modelmurine modelmutantmutant alleleneuro-vascularneurovascularnew approachesnovelnovel approachesnovel strategiesnovel strategyorphan disorderparentpostnatalrare genetic diseaserare genetic disorderretina blood vessel structureretinal vascular networkretinal vascular structureretinal vasculatureshuntsskillssocial rolesomatic variantspatial RNA sequencingspatial gene expression analysisspatial gene expression profilingspatial resolved transcriptome sequencingspatial transcriptome analysisspatial transcriptome profilingspatial transcriptome sequencingspatial transcriptomicsspatially resolved transcriptomicsspatio transcriptomicsstrokedstrokestargeted drug therapytargeted drug treatmentstargeted therapeutictargeted therapeutic agentstargeted therapytargeted treatmenttenure processtenure tracktissue woundtooltranscriptome profilingtranscriptomic profilingvascularvascular bedvascular dysfunctionvasculopathywoundwoundingwoundsyoungster
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Description preview
Blood flows through a well-organized network of vessels (arteries, veins, and capillaries) to allow proper nutrient
and oxygen exchange throughout the body. In Hereditary Hemorrhagic Telangiectasia (HHT), blood vessel
organization becomes disrupted, resulting in the formation of localized, enlarged direct connections between
arteries and veins…
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