grant
Usher Proteins in the Inner ear Structure and Function
Organization UNIVERSITY OF MARYLAND BALTIMORELocation BALTIMORE, UNITED STATESPosted 1 Dec 2012Deadline 30 Nov 2028
NIHUS FederalResearch GrantFY202621+ years oldActinsAdeno-Associated VirusesAdultAdult HumanAffectAgeApicalAuditoryAutoregulationBindingBinding ProteinsBuffersCIB2CalciumCalcium BindingCalcium and Integrin Binding Protein 2Calcium-Binding ProteinsCausalityCell BodyCell FunctionCell PhysiologyCell ProcessCell membraneCellsCellular FunctionCellular MechanotransductionCellular MorphologyCellular PhysiologyCellular ProcessCochleaCochlear OrganComplexCorti CellCytoplasmic MembraneDNA mutationDataDependoparvovirusDependovirusDevelopmentDrosophila Homolog of PINSDysfunctionElementsEquilibrium Hair CellEthnic OriginEthnicityEtiologyFAST-2 proteinFAST2 proteinFamilyFunctional disorderFundingG Protein Signaling Modulator 2GPSM2GPSM2 geneGene DeliveryGeneralized GrowthGenesGenetic ChangeGenetic defectGenetic mutationGenotypeGoalsGrowthHairHair CellsHearingHearing LossHeightHomeostasisHumanHypoacusesHypoacusisIn VitroInfantIntegrin BindingInternal EarIonsKI miceKO miceKnock-inKnock-in MouseKnock-outKnock-out MiceKnockoutKnockout MiceKnowledgeLEU-GLY-ASN Repeat-Enriched ProteinLGN geneLGN proteinLabyrinthLigand Binding ProteinLigand Binding Protein GeneLinkLipidsLiquid substanceMaintenanceMeasuresMechanical Signal TransductionMechanicsMechanosensory TransductionMedialMediatingMembraneMiceMice MammalsModelingModern ManMolecularMolecular InteractionMouse StrainsMurineMusMutant Strains MiceMutateMutationNull MouseOutcome StudyPathogenicityPatternPersonsPhosphatidylserinesPhysiologicPhysiologicalPhysiological HomeostasisPhysiopathologyPlasma MembranePopulation HeterogeneityProbabilityProtein BindingProteinsRegulationReportingResearchRestRoleScaffolding ProteinScanning Electron MicroscopySerine PhosphoglyceridesSeveritiesShapesSpeedStructureSubcellular ProcessTestingTherapeuticTissue GrowthTransducin-Binding Partner, ROD-SpecificTransmissionUsher ProteinsUsher Syndrome ProteinVariantVariationVestibular Hair CellsWorkadeno associated virus groupadulthoodagesbound proteincalcium boundcausationcell morphologycell transductioncellular transductionconfocal imagingdeafdeafeneddeafnessdevelopmentaldisease causationdiverse populationsdysfunctional hearingear hair cellexperimentexperimental researchexperimental studyexperimentsextracellularfluidforkhead activin signal transducer-2genome mutationhearing challengedhearing defecthearing deficienthearing deficithearing difficultyhearing dysfunctionhearing impairmenthearing loss preventionhearing preservationheterogeneous populationhigh definitionhigh-resolutionin vivoinner earintegrin boundknockinknockin miceliquidmechanicmechanicalmechanosensingmechanotransductionmembermembrane structuremouse modelmouse mutantmurine modelmutantnovelontogenypatch clamppathophysiologyplasmalemmapopulation diversitypreserve hearingprevent hearing lossprofound hearing lossprotein complexpublic health relevanceresponsesegregationsocial roletransduced cellstransmission process
Description preview
Hearing loss (HL) is an etiologically diverse condition that can occur at any age and severity level, affecting 1 in
500 infants and more than 360 million people globally1; 2. In numerous ethnicities, we have previously identified
pathogenic variants in the CIB2 gene encoding Calcium and Integrin-Binding protein 2 (CIB2) as the etiology of
HL4-6.…
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