2021
Rho-GTPase Activating Protein myosin MYO9A identified as a novel candidate gene for monogenic focal segmental glomerulosclerosis
Li Q, Gulati A, Lemaire M, Nottoli T, Bale A, Tufro A. Rho-GTPase Activating Protein myosin MYO9A identified as a novel candidate gene for monogenic focal segmental glomerulosclerosis. Kidney International 2021, 99: 1102-1117. PMID: 33412162, PMCID: PMC8076076, DOI: 10.1016/j.kint.2020.12.022.Peer-Reviewed Original ResearchConceptsRhoA activityRho-GAP domainActin stress fiber formationCell junction assemblySmall GTPase proteinsNovel candidate genesStress fiber formationBundles actinCytoskeleton regulationGTPase proteinsActomyosin contractilityJunction assemblyMYO9AAutosomal dominant focal segmental glomerulosclerosisCandidate genesGene contributionCytoskeletal apparatusUnconventional myosinNovel componentRhoA geneWhole-exome sequencingGene editingFSGS phenotypeMolecular causesCalmodulin interaction
2011
Functional and physical interaction between the mismatch repair and FA-BRCA pathways
Williams SA, Wilson JB, Clark AP, Mitson-Salazar A, Tomashevski A, Ananth S, Glazer PM, Semmes OJ, Bale AE, Jones NJ, Kupfer GM. Functional and physical interaction between the mismatch repair and FA-BRCA pathways. Human Molecular Genetics 2011, 20: 4395-4410. PMID: 21865299, PMCID: PMC3196888, DOI: 10.1093/hmg/ddr366.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAnimalsCell LineDNA Mismatch RepairDrosophilaFanconi AnemiaFanconi Anemia Complementation Group ProteinsHCT116 CellsHeLa CellsHumansMiceMutL Protein Homolog 1MutS Homolog 2 ProteinNuclear ProteinsProtein BindingSignal TransductionUbiquitin-Protein LigasesConceptsFA cell linesFA-BRCA pathwayInterstrand crosslinksCell linesFanconi anemiaRepair of ICLsDNA interstrand crosslinksMsh2-deficient cellsFANCD2 monoubiquitylationMMR protein MSH2Chromatin localizationChromatin loadingICL repairDrosophila mutantsHuman cell linesEpistatic relationshipFA pathwayMouse cellsFANCD2Foci formationMismatch repairBone marrow failureRadial formationMonoubiquitylationPhysical interaction
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
2005
Cardiac and CNS defects in a mouse with targeted disruption of suppressor of fused
Cooper AF, Yu KP, Brueckner M, Brailey LL, Johnson L, McGrath JM, Bale AE. Cardiac and CNS defects in a mouse with targeted disruption of suppressor of fused. Development 2005, 132: 4407-4417. PMID: 16155214, DOI: 10.1242/dev.02021.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBody PatterningGenetic Predisposition to DiseaseGenotypeHeart Defects, CongenitalHedgehog ProteinsIntracellular Signaling Peptides and ProteinsMembrane ProteinsMiceMice, Inbred C57BLMice, TransgenicMutationNeoplasmsNeural Tube DefectsPatched ReceptorsPatched-1 ReceptorReceptors, Cell SurfaceRepressor ProteinsSignal TransductionTrans-ActivatorsConceptsNegative regulatorDpc embryosHh pathwayTargeted disruptionSuppressor of FusedDorsoventral patterningExcess HhCompound mutantsEmbryonic developmentSomatic cellsFused geneLeft-right asymmetryDevelopmental defectsNodal expressionMutantsNeural tubeLaterality defectsHedgehog pathwayTumor predispositionNegative modulatorSuppressorCancer developmentDevelopmental abnormalitiesNode developmentPathway
1993
Report of the Second International Workshop on Human Chromosome 9 Mapping 1993
Kwiatkowski D, Armour J, Bale A, Fountain J, Goudie D, Haines J, Knowles M, Pilz A, Slaugenhaupt S, Povey S. Report of the Second International Workshop on Human Chromosome 9 Mapping 1993. Cytogenetic And Genome Research 1993, 64: 93-121. PMID: 8334899, DOI: 10.1159/000133566.Peer-Reviewed Original Research
1992
REPORT on the First International Workshop on Chromosome 9 held at Girton College Cambridge, UK, 22–24 March, 1992
POVEY S, SMITH M, HAINES J, KWIATKOWSKI D, FOUNTAIN J, BALE A, ABBOTT C, JACKSON I, LAWRIE M, HULTÉN M. REPORT on the First International Workshop on Chromosome 9 held at Girton College Cambridge, UK, 22–24 March, 1992. Annals Of Human Genetics 1992, 56: 167-182. PMID: 1449236, DOI: 10.1111/j.1469-1809.1992.tb01145.x.Peer-Reviewed Original Research