2011
Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma
Wang NJ, Sanborn Z, Arnett KL, Bayston LJ, Liao W, Proby CM, Leigh IM, Collisson EA, Gordon PB, Jakkula L, Pennypacker S, Zou Y, Sharma M, North JP, Vemula SS, Mauro TM, Neuhaus IM, LeBoit PE, Hur JS, Park K, Huh N, Kwok PY, Arron ST, Massion PP, Bale AE, Haussler D, Cleaver JE, Gray JW, Spellman PT, South AP, Aster JC, Blacklow SC, Cho RJ. Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma. Proceedings Of The National Academy Of Sciences Of The United States Of America 2011, 108: 17761-17766. PMID: 22006338, PMCID: PMC3203814, DOI: 10.1073/pnas.1114669108.Peer-Reviewed Original ResearchConceptsSquamous cell carcinomaLung squamous cell carcinomaCell carcinomaEpithelial malignanciesCutaneous squamous cell carcinomaLymphoblastic leukemia/lymphomaB-cell chronic lymphocytic leukemiaT-cell lymphoblastic leukemia/lymphomaChronic lymphocytic leukemiaLeukemia/lymphomaSquamous epithelial malignanciesFunction mutationsLymphocytic leukemiaTP53 mutationsNotch receptorsHuman malignanciesNOTCH2 mutationsMalignancyCancer progressionFrequent formHuman cancersCell-based assaysOncogenic gainCarcinomaSomatic aberrationsFunctional 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
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
2002
HEDGEHOG SIGNALING AND HUMAN DISEASE
Bale AE. HEDGEHOG SIGNALING AND HUMAN DISEASE. Annual Review Of Genomics And Human Genetics 2002, 3: 47-65. PMID: 12142354, DOI: 10.1146/annurev.genom.3.022502.103031.Peer-Reviewed Original ResearchConceptsEarly Drosophila developmentHedgehog pathwayDrosophila developmentDevelopmental genesDrosophila melanogasterHuman embryogenesisHedgehog signalingDevelopmental pathwaysGenetic studiesHuman diseasesCell growthEmbryogenesisPathwayKey roleMelanogasterVertebratesImportant roleCentral nervous systemAxial skeletonGenesNervous systemSignalingMutationsDifferentiationRegulation
2000
Sheep, lilies and human genetics
Bale A. Sheep, lilies and human genetics. Nature 2000, 406: 944-945. PMID: 10984033, DOI: 10.1038/35023197.Peer-Reviewed Original ResearchAnimalsAntineoplastic Agents, PhytogenicBasal Cell Nevus SyndromeCarcinoma, Basal CellDrug Evaluation, PreclinicalEye AbnormalitiesHedgehog ProteinsHumansLiliaceaeMembrane ProteinsMutationPatched ReceptorsProteinsReceptors, Cell SurfaceSheepSheep DiseasesSignal TransductionTrans-ActivatorsVeratrum AlkaloidsPTCH Gene Mutations in Odontogenic Keratocysts
Barreto D, Gomez R, Bale A, Boson W, De Marco L. PTCH Gene Mutations in Odontogenic Keratocysts. Journal Of Dental Research 2000, 79: 1418-1422. PMID: 10890722, DOI: 10.1177/00220345000790061101.Peer-Reviewed Original ResearchMeSH KeywordsAdultAmino Acid SubstitutionBasal Cell Nevus SyndromeBase PairingCodon, NonsenseEmbryonic InductionExonsFemaleFrameshift MutationGene DeletionGenes, Tumor SuppressorHedgehog ProteinsHumansMaleMembrane ProteinsMutationMutation, MissenseOdontogenic CystsPatched ReceptorsPatched-1 ReceptorPolymerase Chain ReactionPolymorphism, Single-Stranded ConformationalProteinsReceptors, Cell SurfaceSequence Analysis, DNASignal TransductionTrans-ActivatorsConceptsPTCH geneTumor suppressor geneSingle-strand conformational polymorphismCell fateTransmembrane proteinHuman homologueSuppressor geneBase pairsGenesNumerous tissuesMissense alterationsSporadic keratocystsSporadic odontogenic keratocystsMutationsSomatic mutationsExon 3Nevoid basal cell carcinoma syndromeConformational polymorphismNovel mutationsPCR productsProteinDirect sequencingGene mutationsPTCH gene mutationsPatched
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
1997
Molecular basis of the nevoid basal cell carcinoma syndrome
Wicking C, Bale A. Molecular basis of the nevoid basal cell carcinoma syndrome. Current Opinion In Pediatrics 1997, 9: 630-635. PMID: 9425597, DOI: 10.1097/00008480-199712000-00013.Peer-Reviewed Original ResearchConceptsWidespread developmental defectsHereditary basal cell carcinomasDrosophila genesEmbryonic patterningCell fateEmbryonic developmentHuman homologueMolecular basisDevelopmental defectsTumor suppressorCancer predispositionGenesLoss of heterozygosityCell growthChromosome 9q22.3Basal cell carcinoma syndromeNevoid basal cell carcinoma syndromeMutationsAutosomal dominant disorderBirth defectsDrosophilaDominant disorderCarcinoma syndromeOrganogenesisHomologues