2000
PTCH 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
1996
The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas
Gailani M, Ståhle-Bäckdahl M, Leffell D, Glyn M, Zaphiropoulos P, Undén A, Dean M, Brash D, Bale A, Toftgård R. The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas. Nature Genetics 1996, 14: 78-81. PMID: 8782823, DOI: 10.1038/ng0996-78.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCarcinoma, Basal CellDrosophilaGene ExpressionGenes, Tumor SuppressorGenetic VariationHumansMembrane ProteinsMutationPatched ReceptorsPatched-1 ReceptorPolymorphism, Single-Stranded ConformationalReceptors, Cell SurfaceRNA, MessengerSkin NeoplasmsConceptsSporadic basal cell carcinomasSingle-strand conformational polymorphismTumor suppressorDrosophila segment polarity geneSegment polarity genesHedgehog target genesPolarity genesDrosophila mutantsStrong homologyHuman homologueTarget genesMutational inactivationMutant transcriptsStrand conformational polymorphismNorthern blotSSCP variantsGenesNegative feedback mechanismSitu hybridizationConformational polymorphismNevoid basal cell carcinoma syndromeSuppressorAllelic lossInactivationMutations