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
2001
The hedgehog pathway and basal cell carcinomas
Bale A, Yu K. The hedgehog pathway and basal cell carcinomas. Human Molecular Genetics 2001, 10: 757-762. PMID: 11257109, DOI: 10.1093/hmg/10.7.757.Peer-Reviewed Original ResearchConceptsGenetic studiesHereditary basal cell carcinomasDrosophila genesEmbryonic patterningDevelopmental genesDrosophila melanogasterCell fateHuman homologFruit flyHuman congenital anomaliesBiochemical pathwaysRational medical therapyDevelopmental pathwaysHedgehog pathwayGenesCell growthTumor formationPathwayGorlin syndromeBasal cell carcinomaMutationsHereditary diseaseBirth defectsDrosophilaMelanogaster
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
1996
A Mammalian patched Homolog Is Expressed in Target Tissues of sonic hedgehog and Maps to a Region Associated with Developmental Abnormalities (∗)
Hahn H, Christiansen J, Wicking C, Zaphiropoulos P, Chidambaram A, Gerrard B, Vorechovsky I, Bale A, Toftgard R, Dean M, Wainwright B. A Mammalian patched Homolog Is Expressed in Target Tissues of sonic hedgehog and Maps to a Region Associated with Developmental Abnormalities (∗). Journal Of Biological Chemistry 1996, 271: 12125-12128. PMID: 8647801, DOI: 10.1074/jbc.271.21.12125.Peer-Reviewed Original ResearchConceptsLimb budSonic hedgehogSegment polarity genesIntegral membrane proteinsVentral neural tubePolarity genesHydropathy analysisPatched proteinCorrect patterningPutative proteinImaginal discsMembrane proteinsDrosophila hedgehogHuman PatchedCDNA sequencePosterior ectodermMurine homologPatched expressionMouse embryosClose functional relationshipNeural tubeLarval segmentsRegion AssociatedAmino acidsHedgehog