2006
A Multiplex Assay for the Detection and Mapping of Complex Glycerol Kinase Deficiency
Klein RD, Thorland EC, Gonzales PR, Beck PA, Dykas DJ, McGrath JM, Bale AE. A Multiplex Assay for the Detection and Mapping of Complex Glycerol Kinase Deficiency. Clinical Chemistry 2006, 52: 1864-1870. PMID: 16887896, DOI: 10.1373/clinchem.2006.072397.Peer-Reviewed Original ResearchMultiple 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
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
1997
Characterization of a YAC contig containing the NBCCS locus and a novel Kruppel‐type zinc finger sequence on chromosome segment 9q22.3
Chidambaram A, Gailani M, Gerrard B, Stewart C, Goldstein A, Chumakov I, Bale A, Dean M. Characterization of a YAC contig containing the NBCCS locus and a novel Kruppel‐type zinc finger sequence on chromosome segment 9q22.3. Genes Chromosomes And Cancer 1997, 18: 212-218. PMID: 9071574, DOI: 10.1002/(sici)1098-2264(199703)18:3<212::aid-gcc7>3.0.co;2-4.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceBasal Cell Nevus SyndromeBase SequenceChromosome MappingChromosomes, Artificial, YeastChromosomes, Human, Pair 9CosmidsCpG IslandsDNA-Binding ProteinsDNA, ComplementaryGene DeletionGenomic LibraryHeterozygoteHumansKruppel-Like Transcription FactorsMicrosatellite RepeatsMolecular Sequence DataPolymerase Chain ReactionRepressor ProteinsSequence Analysis, DNASequence Tagged SitesTranscription FactorsZinc FingersConceptsSomatic cell hybrid panel analysisYAC contigNew zinc finger geneZinc finger geneHuman chromosome regionYeast artificial chromosome contigInformative microsatellite lociArtificial chromosome contigZinc finger sequencesPolymorphic marker lociFinger geneMicrosatellite lociChromosome regionsMarker lociDevelopmental defectsSite mappingLinkage analysisContigsLoss of heterozygosityCytogenetic evidenceLociGenesNevoid basal cell carcinoma syndromeAutosomal dominant disorderFinger sequences