2006
Multiple endocrine neoplasia type 1 (MEN1) as a cancer predisposition syndrome: clues into the mechanisms of MEN1-related carcinogenesis.
Busygina V, Bale AE. Multiple endocrine neoplasia type 1 (MEN1) as a cancer predisposition syndrome: clues into the mechanisms of MEN1-related carcinogenesis. The Yale Journal Of Biology And Medicine 2006, 79: 105-14. PMID: 17940620, PMCID: PMC1994794.Peer-Reviewed Original ResearchMeSH KeywordsGenetic Predisposition to DiseaseHumansModels, BiologicalMultiple Endocrine Neoplasia Type 1MutationNervous System NeoplasmsPrecancerous ConditionsProto-Oncogene ProteinsRisk FactorsMultiple Endocrine Neoplasia Type 1 Interacts with Forkhead Transcription Factor CHES1 in DNA Damage Response
Busygina V, Kottemann MC, Scott KL, Plon SE, Bale AE. Multiple Endocrine Neoplasia Type 1 Interacts with Forkhead Transcription Factor CHES1 in DNA Damage Response. Cancer Research 2006, 66: 8397-8403. PMID: 16951149, DOI: 10.1158/0008-5472.can-06-0061.Peer-Reviewed Original ResearchConceptsDNA damage responseDamage responseS-phase checkpoint pathwayDrosophila larval tissuesTranscriptional repressor complexS-phase checkpointMouse embryonic fibroblastsHistone deacetylase 1Cell cycle arrestGenetic screenGenomic integrityInteracting proteinRepressor complexS-phase arrestHuman meninMutant fliesBiochemical functionsLarval tissuesMEN1 proteinCancer susceptibility syndromeEmbryonic fibroblastsCheckpoint pathwayCOOH terminusCHES1Menin
2005
Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory
Klein RD, Salih S, Bessoni J, Bale AE. Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. Genetics In Medicine 2005, 7: 131-138. PMID: 15714081, DOI: 10.1097/01.gim.0000153663.62300.f8.Peer-Reviewed Original ResearchMeSH KeywordsAdenoma, Islet CellDNA Mutational AnalysisGenes, Tumor SuppressorHumansHyperparathyroidismMultiple Endocrine Neoplasia Type 1Pancreatic NeoplasmsPedigreePhenotypePolymerase Chain ReactionProto-Oncogene ProteinsConceptsPituitary tumorsSporadic patientsIslet neoplasiaMEN1 mutationsMultiple endocrine neoplasia type 1Islet cell neoplasiaMEN1 genePancreatic islet tumorsFrameshift deletion mutationClinical featuresSomatic mosaicismPancreatic neoplasmsCell neoplasiaHyperparathyroidismBlood samplesPatientsClinical testingIslet tumorsSporadic casesType 1TumorsFamilial casesNeoplasiaSplice site mutationDNA diagnostic laboratories
2004
Hypermutability in a Drosophila model for multiple endocrine neoplasia type 1
Busygina V, Suphapeetiporn K, Marek LR, Stowers RS, Xu T, Bale AE. Hypermutability in a Drosophila model for multiple endocrine neoplasia type 1. Human Molecular Genetics 2004, 13: 2399-2408. PMID: 15333582, DOI: 10.1093/hmg/ddh271.Peer-Reviewed Original ResearchConceptsDNA cross-linking agentsNucleotide excision repairDNA damage-induced mutationsTumor suppressor geneDamage-induced mutationsDrosophila homologGenomic integrityHuman meninMutant fliesBiochemical functionsTranscriptional modulationNuclear proteinsDrosophila modelProtein 50Novel memberExcision repairNull allelesMolecular mechanismsCancer genesHistone deacetylaseSuppressor geneHomozygous inactivationMnn1Normal fliesGenes
2002
MEN1 tumor‐suppressor protein localizes to telomeres during meiosis
Suphapeetiporn K, Greally JM, Walpita D, Ashley T, Bale AE. MEN1 tumor‐suppressor protein localizes to telomeres during meiosis. Genes Chromosomes And Cancer 2002, 35: 81-85. PMID: 12203793, DOI: 10.1002/gcc.10113.Peer-Reviewed Original ResearchMeSH KeywordsGenes, Tumor SuppressorHeLa CellsHumansImmunohistochemistryMeiosisMultiple Endocrine Neoplasia Type 1Neoplasm ProteinsProto-Oncogene ProteinsTelomereTumor Cells, CulturedTumor Suppressor ProteinsConceptsSomatic cellsTelomerase activityAbsence of meninTumor suppressor gene MEN1Normal cell physiologyTelomeric protein TRF2Normal telomerase activityTumor suppressor proteinRole of meninMeiotic telomeresTelomere functionProtein TRF2Meiotic cellsTranscriptional activationNuclear proteinsCell physiologyFunctional motifsDifferent proteinsTumor suppressorTelomeresMeninElevated telomerase activityDifferent tissuesJunDCancer predisposition syndrome