2008
MEN1 and FANCD2 mediate distinct mechanisms of DNA crosslink repair
Marek LR, Kottemann MC, Glazer PM, Bale AE. MEN1 and FANCD2 mediate distinct mechanisms of DNA crosslink repair. DNA Repair 2008, 7: 476-486. PMID: 18258493, PMCID: PMC2277339, DOI: 10.1016/j.dnarep.2007.12.009.Peer-Reviewed Original ResearchConceptsGenetic interaction studiesFanconi anemia genesDNA crosslink repairVivo reporter systemLoss of Men1Large deletionsMutation frequencyTumor suppressor geneSame repair processICL sensitivityRepair processSingle base deletionDrosophila geneticsCrosslink repairICL repairGenetic interactionsMutant fliesCell mutantsFA genesHomopolymeric tractsReporter systemWild typeMutantsInteraction studiesSuppressor gene
2006
Multiple 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 terminusCHES1MeninDrosophila homologs of FANCD2 and FANCL function in DNA repair
Marek LR, Bale AE. Drosophila homologs of FANCD2 and FANCL function in DNA repair. DNA Repair 2006, 5: 1317-1326. PMID: 16860002, DOI: 10.1016/j.dnarep.2006.05.044.Peer-Reviewed Original ResearchConceptsCross-linking agentsDNA repairFA genesDrosophila homologFanconi anemiaFA pathwayMonoubiquitination of FANCD2Elevated mutation ratesS-phase checkpointProgressive bone marrow failureSpontaneous chromosomal aberrationsMinimal machineryFly homologMammalian cellsAdditional genesFANCD2FANCLLinear pathwayDevelopmental defectsMutation rateCellular defectsHomologGenesBone marrow failureMutants
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
1999
The hedgehog signalling pathway in tumorigenesis and development
Wicking C, Smyth I, Bale A. The hedgehog signalling pathway in tumorigenesis and development. Oncogene 1999, 18: 7844-7851. PMID: 10630637, DOI: 10.1038/sj.onc.1203282.Peer-Reviewed Original ResearchConceptsDownstream targetsNovel downstream targetTumor formationEmbryonic patterningDysregulation of hedgehogResponsive genesHuman patched geneRange of tissuesHedgehog signalingConstitutive activationMolecular processesTumorigenesis resultsCell typesHedgehogCell surfaceReceptor complexPatched genePathwayGenesKey membersTumorigenesisSporadic formsDysregulationSignalingTumor types
1996
Mutations of the Human Homolog of Drosophila patched in the Nevoid Basal Cell Carcinoma Syndrome
Hahn H, Wicking C, Zaphiropoulos P, Gailani M, Shanley S, Chidambaram A, Vorechovsky I, Holmberg E, Unden A, Gillies S, Negus K, Smyth I, Pressman C, Leffell D, Gerrard B, Goldstein A, Dean M, Toftgard R, Chenevix-Trench G, Wainwright B, Bale A. Mutations of the Human Homolog of Drosophila patched in the Nevoid Basal Cell Carcinoma Syndrome. Cell 1996, 85: 841-851. PMID: 8681379, DOI: 10.1016/s0092-8674(00)81268-4.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAnimalsBasal Cell Nevus SyndromeBase SequenceChromosome MappingChromosomes, Human, Pair 9Cloning, MolecularDNA, ComplementaryDrosophilaDrosophila ProteinsExonsFemaleGene DeletionGene ExpressionGenes, Tumor SuppressorHumansIn Vitro TechniquesInsect HormonesIntronsMembrane ProteinsMolecular Sequence DataMutationPedigreeReceptors, Cell SurfaceSequence Homology, Nucleic AcidConceptsDrosophila segment polarity geneSegment polarity genesCertain cell typesDevelopmental abnormalitiesPolarity genesHuman homologStrong homologySporadic basal cell carcinomasHuman sequenceCosmid contigTumor suppressorLoss of heterozygosityCell typesGenesPatched geneChromosome 9q22.3Complete lossFunction contributesNevoid basal cell carcinoma syndromeMutation analysisBasal cell carcinoma syndromeAutosomal dominant disorderNBCCS patientsDrosophilaDominant disorder