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Functional Characterization of Mitochondrial Genome Nonsense Mutations

Organization JOHNS HOPKINS UNIVERSITYLocation BALTIMORE, UNITED STATESPosted 1 Apr 2024Deadline 31 Jan 2026 ⚠️
NIHUS FederalResearch GrantFY2025Active OxygenAllelesAllelomorphsApoptosisApoptosis PathwayAssayBase PairingBenignBioassayBiologic ModelsBiological AssayBiological ModelsBlood CellsBlood NeutrophilBlood Polymorphonuclear NeutrophilCardiac Muscle CellsCardiac MyocytesCardiocyteCardiovascular DiseasesCardiovascular PhysiologyCell BodyCell Communication and SignalingCell FunctionCell LineCell PhysiologyCell ProcessCell RespirationCell SignalingCellLineCellsCellular FunctionCellular PhysiologyCellular ProcessCellular RespirationDNA ResequencingDNA mutationDataDeaminaseDevelopmentDiseaseDisorderDoseEnergy ExpenditureEnergy MetabolismFunctional RNAFutureGene variantGenesGenetic ChangeGenetic defectGenetic mutationGenomeH2O2HL-60HL60HealthHeart Muscle CellsHeart myocyteHereditaryHigh Throughput AssayHumanHydrogen PeroxideHydroperoxideIndividualInheritedIntracellular Communication and SignalingK-562K562K562 blastsLinkLymphatic cellLymphocyteLymphocyticMarrow NeutrophilMessenger RNAMitochondriaMitochondrial DNAMitochondrial DiseasesMitochondrial DisordersModel SystemModern ManMonitorMutationNatureNeutrophilic GranulocyteNeutrophilic LeukocyteNoncoding RNANonsense MutationNontranslated RNANuclearOxygen RadicalsParticipantPeripheral Blood CellPlayPolymorphonuclear CellPolymorphonuclear LeukocytesPolymorphonuclear NeutrophilsPro-OxidantsProgrammed Cell DeathProteinsReactive Oxygen SpeciesResequencingRiskRoleSamplingSeriesSignal TransductionSignal Transduction SystemsSignalingSiteSomatic MutationStrains Cell LinesSubcellular ProcessSuperoxide AnionSuperoxide RadicalSuperoxidesTechnologyTestingUntranslated RNAVariantVariationaerobic metabolismaerobic respirationaging associated diseaseaging associated disordersaging related diseaseaging related disordersallelic variantbasebase editingbasesbiobankbiological signal transductionbiorepositorycardiac functioncardiomyocytecardiovascular disordercardiovascular functioncultured cell linedeath riskdensitydesigndesigningdevelopmentaldisease associated with agingdisease of agingdisorder of agingdisorders associated with agingdisorders related to agingentire genomeexperienceexperimentexperimental researchexperimental studyexperimentsfrailtyfull genomefunction of the heartgenetic variantgenome editinggenome mutationgenomic editinggenomic variantheart functionheteroplasmyhiPSChigh throughput screeninghuman iPShuman iPSChuman induced pluripotent cellhuman induced pluripotent stem cellshuman inducible pluripotent stem cellshuman inducible stem cellsinduced human pluripotent stem cellsinsightlymph cellmRNAmitochondrialmitochondrial genomemortalitymortality riskmtDNAmutantneutrophilnon-sense mutationnoncodingoxidative metabolismprotein complexresponsesocial rolesomatic variantwhole genome

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Description preview

Mitochondria play an essential role in cellular function and impact human health through varied mechanisms,
including energy metabolism, cell signaling, and apoptosis. Many aging-related diseases have a mitochondrial
(MT) component, with studies highlighting associations with cardiovascular disease, frailty, and overall mortality.
In addition to…

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Functional Characterization of Mitochondrial Genome Nonsense Mutations — JOHNS HOPKINS UNIVERSITY | UNITED STATES | Apr | Dev Procure