grant

Fanconi Anemia: Genotype-Phenotype Correlations

Organization NATIONAL HUMAN GENOME RESEARCH INSTITUTELocation UNITED STATES
NIHUS FederalResearch GrantFY2025ALDHAML - Acute Myeloid LeukemiaAcute Myeloblastic LeukemiaAcute Myelocytic LeukemiaAcute Myelogenous LeukemiaAffectAgeAge of OnsetAlcohol Chemical ClassAlcoholsAldehydesAlternate SplicingAlternative RNA SplicingAlternative SplicingAntioncogene Protein p53Aplastic AnemiaApoptosisApoptosis PathwayAssayAttenuatedBioassayBiochemicalBiologicalBiological AssayBiological FunctionBiological ProcessBirth DefectsBlood CellsBlood Precursor CellBlood erythrocyteBody TissuesBone MarrowBone Marrow Reticuloendothelial SystemBone marrow failureBrachydanio rerioBreast Cancer Risk FactorBuccal CavityBuccal Cavity Head and NeckCancersCandidate Disease GeneCandidate GeneCarbonCavitas OrisCell BodyCell CycleCell Division CycleCell ExtractsCell IsolationCell LineCell LocomotionCell MigrationCell MovementCell SegregationCell SeparationCell Separation TechnologyCell SurvivalCell ViabilityCell-Extracellular MatrixCellLineCellsCellular MigrationCellular MotilityCellular Tumor Antigen P53ClinicalClinical ManagementClinical TreatmentComplementComplement ProteinsComplementary DNACongenital AbnormalityCongenital Anatomical AbnormalityCongenital DefectsCongenital DeformityCongenital MalformationCongenital PancytopeniaCustomDNADNA AlterationDNA CrosslinkerDNA Crosslinking AgentDNA DamageDNA Damage RepairDNA InjuryDNA RepairDNA Repair PathwayDNA Sequence AlterationDNA mutationDanio rerioDataDeoxyribonucleic AcidDevelopmentDiagnosisDiseaseDisorderDysmyelopoietic SyndromesECMEarly DiagnosisEnzyme GeneEnzymesErythrocytesErythrocyticEvaluationEventExhibitsExonsExperimental DesignsExtracellular MatrixFA Complementation Group BFA DNA repair pathwayFA-mediated DNA repair pathwayFANCAFANCA ProteinFANCBFANCD2FANCD2 proteinFamilyFamily memberFanconi AnemiaFanconi Anemia Complementation Group A ProteinFanconi Anemia Complementation Group BFanconi Anemia Group A Complementing ProteinFanconi Anemia Group A ProteinFanconi Anemia pathwayFanconi PanmyelopathyFanconi anemia DNA repair pathwayFanconi anemia complementation group D2Fanconi anemia geneFanconi anemia patientFanconi anemia repair pathwayFanconi anemia-associated geneFanconi anemia-causing geneFanconi dysplasiaFanconi's AnemiaFibroblastsFrequenciesGene AlterationGene MutationGene SplicingGene TargetingGene variantGenerationsGenesGeneticGenetic AlterationGenetic ChangeGenetic DiversityGenetic VariationGenetic defectGenetic mutationGenomicsGenotypeGoalsGroupingHNSCCHead and Neck Squamous Cell CarcinomaHematologyHematopoiesisHematopoieticHematopoietic Cellular Control MechanismsHematopoietic Progenitor CellsHematopoietic stem cellsHereditaryHeterozygoteHypoxiaHypoxicIFN-GammaIFN-gIFN-γIFNGIFNγImmuneImmune InterferonImmunesIndividualInflammationInheritedInterferon GammaInterferon Type IIIntermediary MetabolismIsoformsKnock-outKnockoutLengthLifeLinkMalignant NeoplasmsMalignant Ovarian NeoplasmMalignant Ovarian TumorMalignant Pancreatic NeoplasmMalignant TumorMalignant Tumor of the OvaryMalignant neoplasm of ovaryMalignant neoplasm of pancreasMarrow erythrocyteMessenger RNAMetabolic ProcessesMetabolismMethodologyMissense MutationMitotic RecombinationModelingMolecularMolecular DiagnosisMosaicismMouthMutationMyelodysplastic DiseaseMyelodysplastic SyndromesNational Institutes of HealthNatureNon-Polyadenylated RNAOncoprotein p53Oral Cavity Squamous Cell CarcinomaOral cavityOral squamous cell carcinomaOrphan DiseaseOvary CancerOxygen DeficiencyP53Pancreas CancerPancreatic CancerPathogenicityPathway interactionsPatientsPatternPeripheral Blood CellPhenotypePhosphoprotein P53Phosphoprotein pp53PopulationPredispositionPrimary Erythroid HypoplasiaProcessProgrammed Cell DeathProtein IsoformsProtein TP53ProteinsProtocolProtocols documentationRNARNA Gene ProductsRNA SeqRNA SplicingRNA sequencingRNAseqRare DiseasesRare DisorderRed Blood CellsRed CellRefractory Anemia with an Excess of BlastsRefractory anaemia with excess blastsReportingRestRibonucleic AcidRiskRoleSCCHNSNP arraySNP chipSamplingScreening procedureSequence AlterationSeveritiesSiteSmoldering LeukemiaSolid NeoplasmSolid TumorSomatic MutationSpliced GenesSplicingStrains Cell LinesSusceptibilitySyndromeTP53TP53 geneTRP53TechniquesTechnologyThrombocytopeniaThrombopeniaTissuesTransfectionTumor Protein p53Tumor Protein p53 GeneUnited States National Institutes of HealthUniversitiesUnscheduled DNA SynthesisVariantVariationZebra DanioZebra FishZebrafishacetaldehyde dehydrogenaseacute granulocytic leukemiaacute myeloid leukemiaagesaldehyde dehydrogenasesallelic variantattenuateattenuatesattenuationautosomebiologicblood cell formationblood cell progenitorblood corpusclesblood progenitorblood stem cellblood-forming stem cellbreast cancer riskcDNAcell motilitycell sortingclinical interventionclinical therapycohortcomplementationcongenital anomalycongenital aplastic anemiacrosslinkcultured cell linecustomsdeletion detectiondensitydevelopmentaldifferential expressiondifferentially expresseddisease causing variantdisease-causing alleledisease-causing mutationearly detectiongene defectgene panelgenetic variantgenome mutationgenomic alterationgenomic signaturegenomic variantgenomic variationgroupingshead and neck squamous carcinomahead and neck squamous cell cancerhematopoietic progenitorhematopoietic stem progenitor cellhemopoietichemopoietic progenitorhemopoietic stem cellheterozygosityimprovedindelinsertion/deletioninsertion/deletion mutationlFN-Gammalymphoblastoid cell linemRNAmalignancymissense single nucleotide polymorphismmissense single nucleotide variantmissense variantmosaicmosaic diseasesmosaic disordersmouth SCCmouth squamous cell carcinomamultigene panelmutantmutant allelemyelodysplasianeoplasm/cancernoveloral cavity SCCoral squamous canceroral squamous carcinomaorphan disorderovarian cancerp53 Antigenp53 Genesp53 Tumor Suppressorpancreatic malignancypathogenic allelepathogenic variantpathwaypatients with Fanconi anemiaprotein p53scRNA sequencingscRNA-seqscreening toolssingle cell RNA-seqsingle cell RNAseqsingle cell expression profilingsingle cell transcriptomic profilingsingle nucleotide polymorphism arraysingle nucleotide polymorphism chipsingle-cell RNA sequencingsocial rolesomatic variantspecific biomarkersstructural mutationstructural variantstructural variationtranscriptional differencestranscriptome sequencingtranscriptomic sequencingtranscriptomicstrial regimentrial treatmentvector
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Description preview

Over the years, we have employed NextGen technologies and high-density SNP arrays to identify genetic and genomic variations that cause Fanconi anemia, and influence the various phenotypes associated with the disease. Our custom capture gene sequencing panel consisted of 152 genes that targets the entire length of genes associated with FA and…

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