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
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
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 syndromeOrganogenesisHomologuesDevelopmental Genes and Cancer: Role of Patched in Basal Cell Carcinoma of the Skin
Gailani M, Bale A. Developmental Genes and Cancer: Role of Patched in Basal Cell Carcinoma of the Skin. Journal Of The National Cancer Institute 1997, 89: 1103-1109. PMID: 9262247, DOI: 10.1093/jnci/89.15.1103.Peer-Reviewed Original ResearchConceptsHereditary basal cell carcinomasDrosophila genesEmbryonic patterningDevelopmental genesCell fateEmbryonic developmentHuman homologueSporadic basal cell carcinomasBiochemical pathwaysDevelopmental defectsRational medical therapyTumor suppressorGenetic studiesGenesLoss of heterozygosityCell growthChromosome 9q22.3Rare genetic disorderNevoid basal cell carcinoma syndromeBCC formationGenetic disordersBasal cell carcinomaPathwayDrosophilaPatched