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 aberrations
2005
Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory
Klein RD, Dykas DJ, Bale AE. Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. Genetics In Medicine 2005, 7: 611-619. PMID: 16301862, DOI: 10.1097/01.gim.0000182879.57182.b4.Peer-Reviewed Original ResearchConceptsEarly-onset basal cell carcinomaBasal cell carcinomaCell carcinomaPTCH mutationsJaw cystsNevoid basal cell carcinoma syndromeCentral nervous system malformationsBasal cell carcinoma syndromeNervous system malformationsPeripheral blood leukocytesPTCH genePositive test resultsClinical featuresOvarian fibromaPathologic featuresCorpus callosumOcular abnormalitiesBlood leukocytesCarcinoma syndromeSystem malformationsPalmar pitsCleft lipClinical testingFalx cerebriCarcinoma
2000
Identification of PATCHED mutations in medulloblastomas by direct sequencing
Dong J, Gailani M, Pomeroy S, Reardon D, Bale A. Identification of PATCHED mutations in medulloblastomas by direct sequencing. Human Mutation 2000, 16: 89-90. PMID: 10874314, DOI: 10.1002/1098-1004(200007)16:1<89::aid-humu18>3.0.co;2-7.Peer-Reviewed Original ResearchConceptsSingle-strand conformational polymorphismSporadic medulloblastomasPTCH genePatched mutationsAberrant splicingPTCH proteinSSCP screeningMutant allelesStrand conformational polymorphismSplice site alterationsChromosome 9q22Nonsense mutationSite alterationMutationsFrequency of mutationsConformational polymorphismDNA samplesMalignant embryonic tumorGenesNovel variantsPTCH mutationsDirect sequencingAllelesNevoid basal cell carcinoma syndromePtch allelePTCH 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