grant

The role of primary cilia and C2cd3 in craniofacial skeletogenesis

Organization CINCINNATI CHILDRENS HOSP MED CTRLocation CINCINNATI, UNITED STATESPosted 1 Jul 2025Deadline 30 Apr 2030
NIHUS FederalResearch GrantFY2025ActinsAreaAssayAvesAvianBindingBioassayBiological AssayBirdsC2 DomainCUT&RUNCalciumCartilageCartilaginous TissueCausalityCell BodyCell Communication and SignalingCell FunctionCell LineCell PhysiologyCell ProcessCell SignalingCellLineCellsCellular FunctionCellular MatrixCellular PhysiologyCellular ProcessCentriolesCephalicCiliaCleavage Targets and Release Using NucleaseCleavage Under Targets and Release Using NucleaseCleft PalateComplexCranialCraniofacial AbnormalitiesCytoskeletal GeneCytoskeletal ModelingCytoskeletal OrganizationCytoskeletal Organization ProcessCytoskeletal ProteinsCytoskeletal ReorganizationCytoskeletal SystemCytoskeletonDNADNA BindingDNA Binding InteractionDNA boundDNA mutationDataDefectDeoxyribonucleic AcidDiseaseDisorderElementsEmbryoEmbryonicEtiologyEventFaceGLI Family GeneGLI Family ProteinGLI ProteinGLI geneGLI1GLI1 GeneGLI1 ProteinGene ExpressionGene TranscriptionGenetic ChangeGenetic TranscriptionGenetic defectGenetic mutationGlioma Associated Oncogene Homolog 1 ProteinGlioma Associated Oncogene Homolog ProteinGlioma-Associated Oncogene HomologGlioma-associated oncogeneHumanImpairmentIntracellular Communication and SignalingKO miceKnock-out MiceKnockout MiceLengthLifeMTOCMediatingMiceMice MammalsMicro-tubuleMicrognathismMicrotubule-Organizing CenterMicrotubulesModelingModern ManMolecularMolecular InteractionMurineMusMutationNerve CellsNerve UnitNeural CellNeural Crest CellNeurocyteNeuronsNull MouseOFD syndrome 3OralOral facial digital syndrome 3Oral facial digital syndrome type 3OrganellesOsteoblastsPatientsPhenotypePolymersProcessProtein Binding DomainProtein Binding MotifProtein-Protein Interaction DomainProteinsRNA ExpressionResearch ResourcesResourcesRoleSignal PathwaySignal TransductionSignal Transduction SystemsSignalingSonic Hedgehog (Shh) PathwaySonic Hedgehog PathwayStrains Cell LinesSubcellular ProcessSugarman syndromeSyndromeTestingTherapeuticTherapeutic InterventionTranscriptionTransgenic OrganismsUpregulationVariantVariationWorkbasal bodybasebasesbiological signal transductionbonecausationcell behaviorcellular behaviorciliogenesisciliopathycilium biogenesiscofactorconditional knock-outconditional knockoutconditional mutantconditional mutationcraniofacialcraniofacial anomaliescraniofacial defectscraniofacial malformationcraniofaciescultured cell linedigitaldigito-orofacial syndrome IIIdisease causationexperimentexperimental researchexperimental studyexperimentsfacesfacialgenome mutationglioma associated oncogene 1glioma associated oncogene family zinc finger 1hiPSChuman iPShuman iPSChuman induced pluripotent cellhuman induced pluripotent stem cellshuman inducible pluripotent stem cellshuman inducible stem cellsin vivoinduced human pluripotent stem cellsintervention therapyintracellular skeletonjaspamidejasplakinolidekinetosomeknock-downknockdownmelanocytemicrognathiamouse modelmurine modelmutantneuronalnoveloral-facial-digital syndrome IIIorofaciodigital (OFD) syndrome IIIorofaciodigital syndrome 3orofaciodigital syndrome IIIosteogenicpolymerpolymericpolymerizationrhorho G-Proteinsrho GTP-Binding Proteinsrho GTPasesrho Protein P21rho Small GTP-Binding Proteinsskeletalskeletogenesissocial roletransgenic
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Description preview

ABSTRACT:
Primary cilia are ubiquitous, microtubule-based extensions that transduce molecular signals within

a cell. Defects in primary cilia result in ciliopathies, a pleiotropic group of debilitating, and

sometimes life-threatening disorders. One third of ciliopathies are defined by severe craniofacial

anomalies. Currently there are no…

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