2018
A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death
Penque BA, Su L, Wang J, Ji W, Bale A, Luh F, Fulbright RK, Sarmast U, Sega AG, Konstantino M, Spencer-Manzon M, Pierce R, Yen Y, Lakhani SA. A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death. European Journal Of Medical Genetics 2018, 62: 103574. PMID: 30439532, DOI: 10.1016/j.ejmg.2018.11.008.Peer-Reviewed Original Research
2009
Characterization of DNA damage-dependent cell cycle checkpoints in a menin-deficient model
Kottemann MC, Bale AE. Characterization of DNA damage-dependent cell cycle checkpoints in a menin-deficient model. DNA Repair 2009, 8: 944-952. PMID: 19608464, PMCID: PMC2745199, DOI: 10.1016/j.dnarep.2009.06.001.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAtaxia Telangiectasia Mutated ProteinsCell CycleCell Cycle ProteinsCyclin-Dependent Kinase Inhibitor p21DNA DamageEmbryo, MammalianFibroblastsG1 PhaseHistone-Lysine N-MethyltransferaseMiceModels, BiologicalMutagensMutationMyeloid-Lymphoid Leukemia ProteinPhenotypePromoter Regions, GeneticProtein BindingProtein Serine-Threonine KinasesProto-Oncogene ProteinsRadiation, IonizingS PhaseTumor Suppressor Protein p53Up-RegulationConceptsP21 promoterDNA damage-dependent mannerPositive transcriptional regulatorDamage-dependent mannerNormal cellular physiologyCell cycle controlLoss of Men1Intra-S checkpointCell cycle checkpointsMouse embryonic fibroblastsCyclin-dependent kinase inhibitorG1/STranscriptional regulationTranscriptional regulatorsCheckpoint responseCellular physiologyCycle checkpointsHistone methyltransferaseDNA repairEmbryonic fibroblastsTranscriptional capacityCycle controlTarget p21MeninCancer pathogenesis
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 terminusCHES1Menin