grant
Vascular remodeling in patients with rare genetic disorders
Organization NATIONAL HEART, LUNG, AND BLOOD INSTITUTELocation UNITED STATES
NIHUS FederalResearch GrantFY2025(TNF)-α21+ years old5' ribonucleotide phosphohydrolase5'-AMP Nucleotidase5'-N'Tase5'-NT5'-Nucleotidase5'-Nucleotidase PhosphoribolaseAMP PhosphataseASCVDAberrant TissueAccelerationAdenylate PhosphataseAdhesionsAdultAdult HumanAdult-Onset Diabetes MellitusAffectAlimentary CanalAneurysmAngiitisApoplexyArterial IntimasArteriesAssayAtherosclerosisAtherosclerosis Risk in CommunitiesAtherosclerotic Cardiovascular DiseaseAtrophicAtrophyBenignBioassayBiologic ModelsBiological AssayBiological ModelsBlood NeutrophilBlood Polymorphonuclear NeutrophilBlood Vessel ImagingBlood VesselsBlood flowBody SystemBody TissuesBrain InfarctionBrain Vascular AccidentCADASILCD54 AntigensCD73 AntigensCNS Nervous SystemCOVID infected patientCOVID patientCOVID positive patientCOVID-19 infected patientCOVID-19 patientCOVID-19 positive patientCOVID19 patientCOVID19 positive patientCachecticCachectinCachexiaCalcifiedCalciumCandidate Disease GeneCandidate GeneCardiacCardiac infarctionCausalityCell BodyCell Communication and SignalingCell LineCell SignalingCell-Extracellular MatrixCellLineCellsCentral Nervous SystemCerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts LeukoencephalopathyCerebral StrokeCerebrovascular ApoplexyCerebrovascular StrokeChildhoodChoristomaChronicChronic DiseaseChronic IllnessChronic Kidney FailureChronic Renal DiseaseChronic Renal FailureChronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatureCicatrixClinicalClinical EvaluationClinical ResearchClinical StudyClinical TestingCo-cultureCocultivationCocultureCoculture TechniquesCollaborationsCollagenComplexComplicationComputerized Medical RecordConnective TissueCutaneousCytidylate PhosphataseDA-nucleotidaseDNA mutationDasatinibDataData AnalysesData AnalysisDeath RateDefectDegos diseaseDental PorcelainDermalDiagnosisDiagnosticDigestive TractDilatationDilatation - actionDiseaseDisease OutcomeDisease ProgressionDisorderDrosophila Homolog of NOTCH 3Drug ScreeningDrugsECGECMEKGEchocardiogramEchocardiographyEcto-5'-NucleotidaseEctopic TissueElectrocardiogramElectrocardiographyElectronic Medical RecordEndothelial CellsEndotheliumEnlarged LiverEnrollmentEnzyme GeneEnzymesEtiologyExonsExpression SignatureExtracellular MatrixExtravasationEyeEye ExamEye ExaminationEyeballFLJ11330FaceFatal OutcomeFibroblastsFibrosisGI TractGI perforationGastrointestinal TractGastrointestinal tract structureGene AlterationGene Expression ProfileGene MutationGene variantGeneral PopulationGeneral PublicGenesGeneticGenetic ChangeGenetic DiseasesGenetic defectGenetic mutationGrantGranulation TissueHIF 1HIF-1 proteinHIF1HIF1 proteinHaplotypesHealthHealth CareHeartHeart failureHepatomegalyHereditaryHeterotopic TissueHyper-IgE SyndromeHyperimmunoglobulin E SyndromeHyperimmunoglobulin E-Recurrent Infection SyndromeICAM-1IMP NucleotidaseIMP PhosphataseIMPaseImageImmuneImmune systemImmunesIn VitroInfectionInflammationInheritedInosinate PhosphataseIntegrinsIntegrins Extracellular MatrixIntellectual disabilityIntellectual functioning disabilityIntellectual limitationIntercellular adhesion molecule 1Intermediary MetabolismIntracellular Communication and SignalingIsraelJTK8Job's SyndromeJointsKetosis-Resistant Diabetes MellitusKinasesL-ProlineLYNLYN geneLeakageLeiomyocyteLesionLifeLiver FibrosisLower ExtremityLower LimbLungLung Respiratory SystemMR ImagingMR TomographyMRIMRIsMacrophage-Derived TNFMagnetic Resonance ImagingMalignantMalignant - descriptorManuscriptsMapsMarrow NeutrophilMaturity-Onset Diabetes MellitusMeasurementMediatingMedical Imaging, Magnetic Resonance / Nuclear Magnetic ResonanceMedicationMembrum inferiusMemory LossMesenchymalMetabolic PathwayMetabolic ProcessesMetabolismMicrovascular DysfunctionMicrovascular PermeabilityMigraineMigraine HeadacheModel SystemModelingMolecularMolecular TargetMonocyte-Derived TNFMultiple AbnormalitiesMutationMyocardial InfarctMyocardial InfarctionNF-Kb-Activating Kinase GeneNHLBINIDDMNMR ImagingNMR TomographyNOMIDNOTCH3NOTCH3 geneNational Heart, Lung, and Blood InstituteNatural HistoryNeonatal Onset Multisystem Inflammatory DiseaseNeuraxisNeutrophil InfiltrationNeutrophil RecruitmentNeutrophilic GranulocyteNeutrophilic InfiltrateNeutrophilic LeukocyteNon-Insulin Dependent DiabetesNon-Insulin-Dependent Diabetes MellitusNoninsulin Dependent DiabetesNoninsulin Dependent Diabetes MellitusNuclear Magnetic Resonance ImagingNucleotidasesO elementO2 elementOrganOrgan SystemOrphan DiseaseOxygenPathway interactionsPatientsPepQ proteinPerinatalPeripartumPerivascular FibrosisPharmaceutical PreparationsPhasePhenotypePhosphotransferase GenePhosphotransferasesPolymorphonuclear CellPolymorphonuclear LeukocytesPolymorphonuclear NeutrophilsPopulationPorcelainProlineProteinsProteomicsPulmonary HypertensionPurinesPyrimidine 5'-NucleotidaseRNA SeqRNA sequencingRNAseqRare DiseasesRare DisorderReportingResearchResearch ResourcesResearch TechnicsResearch TechniquesResourcesRisk FactorsRoleSARS-CoV-2 infected patientSARS-CoV-2 patientSARS-CoV-2 positive patientSTAT3STAT3 geneSTAT3 loss of functionScarsSepsisSignal PathwaySignal TransductionSignal Transduction SystemsSignalingSingle cell seqSkinSlow-Onset Diabetes MellitusSmooth Muscle CellsSmooth Muscle MyocytesSmooth Muscle Tissue CellSpillageSpinalSpleenSpleen Reticuloendothelial SystemStable Diabetes MellitusStrains Cell LinesStrokeSubarachnoid HemorrhageSystemSystemic hypertensionT2 DMT2DT2DMT2KTBK1TBK1 geneTNFTNF ATNF AlphaTNF geneTNF-αTNFATNFαTechnologyTestingTherapeuticTherapeutic AgentsThymidine PhosphataseTimeTissuesTransphosphorylasesTransthoracic EchocardiographyTreatment ProtocolsTreatment RegimenTreatment ScheduleTumor Necrosis FactorTumor Necrosis Factor-alphaType 2 Diabetes MellitusType 2 diabetesType II Diabetes MellitusType II diabetesUridylate 5'-NucleotidaseVascular DiseasesVascular DisorderVascular Endothelial CellVascular blood supplyVascular calcificationVascular remodelingVascularizationVasculitisWound RepairXaa-Pro dipeptidaseZeugmatographyadult onset diabetesadulthoodalimentary tractallelic variantangiogenesisarterial tortuosityartery tortuosityatheromatosisatherosclerotic diseaseatherosclerotic vascular diseaseautoinflammatory diseasesautoinflammatory disordersautosomebiobankbiological signal transductionbiomarker identificationbiorepositoryblood supplyblood vessel disorderblood vessel occlusionbrain attackbrain infarctcalcificationcardiac failurecardiac infarctcausationcell typecerebral vascular accidentcerebrovascular accidentchronic disorderchronic kidney diseaseclinical testclinical trial analysiscoronary attackcoronary infarctcoronary infarctioncoronavirus disease 2019 infected patientcoronavirus disease 2019 patientcoronavirus disease 2019 positive patientcoronavirus disease infected patientcoronavirus disease patientcoronavirus disease positive patientcoronavirus disease-19 patientcoronavirus patientcultured cell linecytosolic deoxyribonucleotide-activated nucleotidasedata interpretationdatabase of Genotypes and PhenotypesdbGaPdental ceramicdeoxyinosine-activated nucleotidasedigestive canaldisease causationdisease modeldisorder modeldrug/agenteffectiveness testingenrollentire genomeexperimentexperimental researchexperimental studyexperimentsextracellularfacesfacialfibrotic liverfull genomegain of function mutationgastrointestinal perforationgene defectgene expression patterngene expression signaturegene testinggene-based testinggenetic conditiongenetic disordergenetic recessivegenetic testinggenetic variantgenome mutationgenomic varianthealinghealth care servicehealth recordheart attackheart infarctheart infarctionheart sonographyhepatic fibrosishypoimmunityhypoperfusionhypoxia inducible factor 1iPSiPSCiPSCsidentification of biomarkersidentification of new biomarkersimagingimaging studyimmune deficiencyimmunodeficiencyimprovedin vivoinduced pluripotent cellinduced pluripotent stem cellinduced pluripotent stem cells derived from patientsinduced pluripotent stem cells from patientsinducible pluripotent cellinducible pluripotent stem cellinfection recurrenceinflammatory modulationinhibitorinsightintellectual and developmental disabilityketosis resistant diabeteskinase inhibitorlarge data setslarge datasetslimited intellectual functioninglung failuremarker identificationmaturity onset diabetesmemory declinemicrovascular complicationsmicrovascular diseasemigrationmortality ratemortality ratiomouse modelmurine modelmutant alleleneutrophilnucleotidasenucleotide phosphohydrolaseophthalmic examinationoptic imagingoptical imagingorphan disorderpathwaypatient derived human iPSpatient derived human iPSCpatient derived human induced pluripotent stem cellpatient derived iPSpatient derived iPSCpatient derived induced pluripotent cellspatient derived induced pluripotent stem cellspatient infected with COVIDpatient infected with COVID-19patient infected with SARS-CoV-2patient infected with coronavirus diseasepatient infected with coronavirus disease 2019patient infected with severe acute respiratory syndrome coronavirus 2patient with COVIDpatient with COVID-19patient with COVID19patient with SARS-CoV-2patient with coronavirus diseasepatient with coronavirus disease 2019patient with severe acute respiratory distress syndrome coronavirus 2patient-derived pluripotent stem cellspediatricpeptidase Dporcelain Dental materials and fillingspost-COVIDpost-COVID-19post-coronavirus disease 2019programsprolidaseproline dipeptidasepsychiatric symptompulmonary failurequiescent cell proline dipeptidaserare genetic diseaserare genetic disorderrecessive genetic traitrecessive traitrecurrent infectionrecurring infectionresearch clinical testingscreeningscreeningssevere acute respiratory syndrome coronavirus 2 infected patientsevere acute respiratory syndrome coronavirus 2 patientsevere acute respiratory syndrome coronavirus 2 positive patientside effectsingle cell next generation sequencingsingle cell sequencingskin ulcerslugsmall vessel diseasesocial rolesrc Kinasessrc Protein-Tyrosine Kinasessrc Tyrosine Kinasessrc-Family Kinasessrc-Family Tyrosine Kinasesstrokedstrokessystemic inflammationsystemic inflammatory responsetherapeutic evaluationtherapeutic targettherapeutic testingtooltranscriptional profiletranscriptional signaturetranscriptome sequencingtranscriptomic sequencingtreatment strategytype 2 DMtype II DMtype two diabetesulcerative woundsv-YES-1 Yamaguchi Sarcoma Viral Related Oncogene Homologvascularvascular abnormalityvascular dysfunctionvascular imagingvascular supplyvasculature Imagingvasculitidesvasculopathywhole genomewound healingwound recoverywound resolution
Description preview
Monogenetic disorders grant the unique ability to understand more complex diseases due to a single defined genetic defect. Advanced sequencing technology accelerates gene candidate discovery but progress can be slowed by the inability to distinguish between functional disease related and non-disease related mutations. We use patient-specific in…
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