grant
Genes associated with endocrine tumorigenesis
Organization NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASESLocation UNITED STATES
NIHUS FederalResearch GrantFY2025AchievementAchievement AttainmentAdipocytesAdipose CellAdrenal Medullary ParagangliomaAdrenal Medullary PheochromocytomaAdrenal PheochromocytomaAllelic LossAmino AcidsAssayAutoregulationB9 endocrine pancreasBenignBeta Cell NeoplasmBeta Cell Neoplasm of the PancreasBeta Cell Tumor of the PancreasBioassayBiologic ModelsBiological AssayBiological FunctionBiological ModelsBiological ProcessBody TissuesC-terminalCDK Inhibitor GeneCDK Inhibitor ProteinCDK4ICDK6 Inhibitor p18CDK6-associated protein p18CDKI ProteinCDKN2CDKN2 GenesCDKN2ACDKN2A geneCDKN2C ProteinCDKN6CMM2Cancer PatientCell BodyCell CycleCell Cycle ControlCell Cycle ProgressionCell Cycle RegulationCell Division CycleCell Growth in NumberCell LineCell MultiplicationCell ProliferationCellLineCellsCellular OncogeneCellular ProliferationChIP SequencingChIP-seqChIPseqChIRP-seqChromaffin NeoplasmChromaffin ParagangliomaChromaffin TumorCosmeticsCulturing, in vitro Vertebrate, PrimaryCyclin Kinase InhibitorCyclin-Dependent InhibitorCyclin-Dependent Kinase 4 Inhibitor CCyclin-Dependent Kinase 6 InhibitorCyclin-Dependent Kinase 6 Inhibitor p18Cyclin-Dependent Kinase InhibitorCyclin-Dependent Kinase Inhibitor 2A GeneCyclin-Dependent Kinase Inhibitor 2CCyclin-Dependent Kinase Inhibitor GeneDNA MethylationDNA mutationDataDefectDerivationDerivation procedureDetectionDifferentiation in cell cultureDistant CancerDistant MetastasisDown-RegulationDuodenumES cellEndocrineEndocrine Gland NeoplasmsEndocrine PancreasEndocrine System NeoplasmEndocrine System TumorEndocrine TumorEnhancersEpigeneticEpigenetic ChangeEpigenetic MechanismEpigenetic ProcessEthnic OriginEthnicityEventExonsFamilyFat CellsFatty TumorFunctional RNAGCM2GCM2 geneGCMBGEM modelGEMM modelGene AlterationGene ClusterGene ExpressionGene Expression Microarray AnalysisGene FamilyGene MutationGene TranscriptionGenesGenetic ChangeGenetic TranscriptionGenetic defectGenetic mutationGenetically Engineered MouseGenomic SegmentGenotypeGerm LinesGerm-Line MutationGlial Cells Missing, Drosophila, Homolog of 2GoalsHGF ReceptorHGFRHepatocyte Growth Factor ReceptorHereditaryHereditary MutationHeterozygoteHistone H3HomeostasisHumanHyperparathyroidismINK4INK4AINK4CINK4C proteinIn vitro cell differentiationInheritedInsulin-Producing Neoplasm of the Islet CellsInsulin-Producing Tumor of the Islet CellsInsulomaIntraadrenal ParagangliomaIsland Cell TumorIslands of LangerhansIslet Cell NeoplasmIslet Cell TumorIslets of LangerhansJewishJewsKI miceKO miceKnock-in MouseKnock-out MiceKnockout MiceL-LysineLeadLipocytesLipomaLoss of HeterozygosityLysineMEA Type 1MEA Type IMEN Type 1MEN Type IMET ProtooncogeneMET geneMTS1MTS1 GenesMalignant Parathyroid Gland NeoplasmMalignant Parathyroid NeoplasmMammotropinMapsMature LipocyteMature fat cellMeninMethylationMiceMice MammalsModel SystemModern ManMolecularMolecular GeneticsMosaicismMouse ES CellMouse ESCMouse Embryonic ProgenitorMouse Embryonic Stem CellsMultiple Endocrine Adenomatosis Type 1Multiple Endocrine Neoplasia Type 1Multiple Endocrine Neoplasia Type IMultiple Endocrine Type 1 NeoplasmsMultiple Endocrine Type I NeoplasmsMurineMusMutationNeoplasmsNesidioblastsNeuroendocrine NeoplasmNeuroendocrine TumorsNoncoding RNANontranslated RNANull CellsNull LymphocytesNull MouseOncogenesisPanNetsPancreasPancreaticPancreatic Beta Cell Insulin Producing NeoplasmPancreatic Beta Cell Insulin Producing TumorPancreatic Beta Cell TumorPancreatic Endocrine NeoplasmPancreatic Endocrine TumorPancreatic IsletsPancreatic Neuroendocrine TumorParathyroidParathyroid AdenomaParathyroid CancerParathyroid Gland AdenomaParathyroid Gland CancerParathyroid Gland NeoplasmParathyroid Gland TumorParathyroid Head and NeckParathyroid NeoplasmsParathyroid TumorParathyroid glandPars endocrina pancreatisPathway interactionsPatientsPb elementPhenotypePheochromocytomaPhysiological HomeostasisPituitary Gland NeoplasmPituitary Gland TumorPituitary Lactogenic HormonePituitary Mammotropic HormonePituitary NeoplasmsPituitary TumorsPrimary Cell CulturesProlactinProliferatingProteinsProto-OncogenesRNA ExpressionRegulationReporterResearch SpecimenRiskRisk AssessmentRoleSmall IntestinesSomatic MutationSpecimenStrains Cell LinesSyndromeTP16TSG9ATissuesTranscriptionTumor Suppressor ProteinsType I Multiple Endocrine AdenomatosisUntranslated RNAUpregulationVariantVariationWermer SyndromeWorkaccurate diagnosisaminoacidbeta-Cell Adenomabeta-Cell Tumorc-ONCcancer progressioncell transformationcell typechromaffinomachromatin immunoprecipitation coupled with sequencingchromatin immunoprecipitation followed by sequencingchromatin immunoprecipitation with sequencingchromatin immunoprecipitation-seqchromatin immunoprecipitation-sequencingchromatin isolation by RNA purification sequencingcirculating DNAcosmetic productcultured cell linecyclin-dependent kinase inhibitor p18differentiation in culturedifferentiation in vitrodisease modeldisorder modelembryo derived stem cellembryonal stem cellsembryonic progenitorembryonic stem cellendocrine neoplasmepigeneticallyexome sequencingexome-seqgene defectgene locusgenetic locusgenetically engineered mouse modelgenetically engineered murine modelgenome mutationgenome scalegenome segmentgenome sequencinggenome wide analysisgenome wide studiesgenome-widegenome-wide analysisgenome-wide identificationgenomewidegenomic locationgenomic locusgenomic regiongerm-line defectgermline variantgland developmentheavy metal Pbheavy metal leadheterozygosityhistone methylationhistone modificationimage-based methodimaging methodimaging modalityin vitro cellular differentiationinsightinsulinomainterestisletkindredknockin miceluteotropic hormoneluteotropinmESCmalignant parathyroid gland tumormalignant parathyroid tumormethylomemosaic diseasesmosaic disordersmouse modelmurine ES cellsmurine ESCmurine embryonic progenitormurine embryonic stem cellmurine modelmutant alleleneoplasianeoplasm progressionneoplastic growthneoplastic progressionnew approachesnoncodingnovelnovel approachesnovel strategiesnovel strategyp14ARFp16 Genesp16INK4 Genesp16INK4A Genesp16INK4ap18p18 proteinp18-INK4Cp18-INK6p18INK4c proteinpancreatic NETpancreatic islet neoplasmpathwaypositional cloningprogramsprotein complexprotooncogenesmall bowelsocial rolesomatic variantstem cell of embryonic origintransformed cellstumortumor DNAtumor cell DNAtumor initiationtumor progressiontumor suppressortumor-specific DNAtumorigenesisvenous thromboembolism
Description preview
Functional inactivation of menin, encoded by the MEN1 gene, causes the inherited multiple endocrine neoplasia type 1 (MEN1) syndrome and some but not all sporadic parathyroid and pancreatic endocrine tumors. Additional genes for these conditions can be identified with the help of exome and genome sequencing approaches. Another approach, from…
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