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
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, ComplementaryDNA-Binding ProteinsGene 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
1996
Mutations of the Human Homolog of Drosophila patched in the Nevoid Basal Cell Carcinoma Syndrome
Hahn H, Wicking C, Zaphiropoulos P, Gailani M, Shanley S, Chidambaram A, Vorechovsky I, Holmberg E, Unden A, Gillies S, Negus K, Smyth I, Pressman C, Leffell D, Gerrard B, Goldstein A, Dean M, Toftgard R, Chenevix-Trench G, Wainwright B, Bale A. Mutations of the Human Homolog of Drosophila patched in the Nevoid Basal Cell Carcinoma Syndrome. Cell 1996, 85: 841-851. PMID: 8681379, DOI: 10.1016/s0092-8674(00)81268-4.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAnimalsBasal Cell Nevus SyndromeBase SequenceChromosome MappingChromosomes, Human, Pair 9Cloning, MolecularDNA, ComplementaryDrosophilaDrosophila ProteinsExonsFemaleGene DeletionGene ExpressionGenes, Tumor SuppressorHumansIn Vitro TechniquesInsect HormonesIntronsMembrane ProteinsMolecular Sequence DataMutationPedigreeReceptors, Cell SurfaceSequence Homology, Nucleic AcidConceptsDrosophila segment polarity geneSegment polarity genesCertain cell typesDevelopmental abnormalitiesPolarity genesHuman homologStrong homologySporadic basal cell carcinomasHuman sequenceCosmid contigTumor suppressorLoss of heterozygosityCell typesGenesPatched geneChromosome 9q22.3Complete lossFunction contributesNevoid basal cell carcinoma syndromeMutation analysisBasal cell carcinoma syndromeAutosomal dominant disorderNBCCS patientsDrosophilaDominant disorderRelationship Between Sunlight Exposure and a Key Genetic Alteration in Basal Cell Carcinoma
Gailani M, Leffell D, Ziegler A, Gross E, Brash D, Bale A. Relationship Between Sunlight Exposure and a Key Genetic Alteration in Basal Cell Carcinoma. Journal Of The National Cancer Institute 1996, 88: 349-354. PMID: 8609643, DOI: 10.1093/jnci/88.6.349.Peer-Reviewed Original ResearchConceptsBasal cell carcinomaLoss of heterozygosityCell carcinomaP53 geneSunlight exposureExact testGenetic alterationsPathogenesis of BCCSun-exposed areasFrequency of LOHMohs micrographic surgical techniqueEnvironmental agentsLocation of tumorFisher's exact testSkin cancer patientsKey genetic alterationsUVB radiationChi-squared analysisFrequent genetic alterationsLimited associationSpecific environmental agentsBCC incidenceTumor characteristicsCancer patientsCommon cancer
1994
Nevoid basal cell carcinoma syndrome.
Bale A, Gailani M, Leffell D. Nevoid basal cell carcinoma syndrome. Journal Of Investigative Dermatology 1994, 103: 126s-130s. PMID: 7963674, DOI: 10.1111/1523-1747.ep12399438.Peer-Reviewed Original ResearchConceptsOvarian fibromaCell carcinomaNevoid basal cell carcinoma syndromeBasal cell carcinoma syndromeHereditary basal cell carcinomasBasal cell carcinomaMultiple congenital anomaliesGerm-line mutationsAutosomal dominant disorderUnusual patientCongenital anomaliesCarcinoma syndromeTumor typesHereditary disorderTumor suppressor geneDominant disorderSporadic medulloblastomasAllelic loss
1993
Progression of uremic hyperparathyroidism involves allelic loss on chromosome 11.
Falchetti A, Bale A, Amorosi A, Bordi C, Cicchi P, Bandini S, Marx S, Brandi M. Progression of uremic hyperparathyroidism involves allelic loss on chromosome 11. The Journal Of Clinical Endocrinology & Metabolism 1993, 76: 139-144. PMID: 8421078, DOI: 10.1210/jcem.76.1.8421078.Peer-Reviewed Original Research
1992
DNA Diagnosis with Mutation-Specific Artificial Methylation Sites: Application to Rapid Screening of Δ F508
Petty E, Gold E, Bale A. DNA Diagnosis with Mutation-Specific Artificial Methylation Sites: Application to Rapid Screening of Δ F508. Clinical Chemistry 1992, 38: 2422-2425. PMID: 1458578, DOI: 10.1093/clinchem/38.12.2422.Peer-Reviewed Original Research