2006
Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome
Cajaiba MM, Bale AE, Alvarez-Franco M, McNamara J, Reyes-Múgica M. Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome. Nature Reviews Clinical Oncology 2006, 3: 575-580. PMID: 17019435, DOI: 10.1038/ncponc0608.Peer-Reviewed Original Research
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
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
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 carcinomaPathwayDrosophilaPatchedComplications of the Nevoid Basal Cell Carcinoma Syndrome
Walter A, Pivnick E, Bale A, Kun L. Complications of the Nevoid Basal Cell Carcinoma Syndrome. Journal Of Pediatric Hematology/Oncology 1997, 19: 258-262. PMID: 9201152, DOI: 10.1097/00043426-199705000-00016.Peer-Reviewed Original ResearchMeSH KeywordsAllelesBasal Cell Nevus SyndromeBiomarkers, TumorCerebellar NeoplasmsChild, PreschoolDNA, NeoplasmFemaleHumansMedulloblastomaNeoplasms, Multiple PrimarySkin NeoplasmsConceptsNevoid basal cell carcinoma syndromeBasal cell carcinoma syndromeBasal cell carcinomaCell carcinomaCarcinoma syndromeRadiation therapyAdditional basal cell carcinomasTumor DNAMultiple basal cell carcinomasCase reportCutaneous tumorsUnaffected family membersLoss of heterozygosityCarcinomaPatientsSyndromeTherapyGermline DNAMedulloblastomaPhotodynamic therapyGenetic lesionsFamily membersChildrenComplicationsNeoplasmsClinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome
Kimonis V, Goldstein A, Pastakia B, Yang M, Kase R, DiGiovanna J, Bale A, Bale S. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. American Journal Of Medical Genetics 1997, 69: 299-308. PMID: 9096761, DOI: 10.1002/(sici)1096-8628(19970331)69:3<299::aid-ajmg16>3.0.co;2-m.Peer-Reviewed Original ResearchConceptsBasal cell carcinomaNevoid basal cell carcinoma syndromeBasal cell carcinoma syndromeMean ageCell carcinomaFirst tumorJaw cystsCarcinoma syndromePlantar pitsNumber of BCCsFalx cerebriPalmar/plantar pitsMultiple basal cell carcinomasAffected individualsAutosomal dominant disorderImportant radiological signsOvarian fibromaUS patientsClinical manifestationsPercent of whitesRadiological signsPhysical findingsBifid ribsSprengel's deformityRadiation therapyCharacterization 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-Binding ProteinsDNA, ComplementaryGene 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 sequencesPulsed-field gel electrophoresis and FISH mapping of chromosome 9q22: placement of a novel zinc finger gene within the NBCCS and ESS1 region
Levanat S, Chidambaram A, Wicking C, Bray-Ward P, Pressman C, Toftgard R, Gailani M, Myers J, Wainwright B, Dean M, Bale A. Pulsed-field gel electrophoresis and FISH mapping of chromosome 9q22: placement of a novel zinc finger gene within the NBCCS and ESS1 region. Cytogenetic And Genome Research 1997, 76: 208-213. PMID: 9186526, DOI: 10.1159/000134551.Peer-Reviewed Original ResearchConceptsNovel zinc finger geneChromosome 9q22Gene-rich regionsZinc finger geneHuman disease lociGel electrophoresisFISH mappingFinger genePFGE fragmentsNotI fragmentsRestriction fragment lengthDisease locusD9S196Field gel electrophoresisD9S180FishFragment lengthGenesKbInterphase FISHPulsed-field gel electrophoresisElectrophoresisFragmentsCOL15A1LociThe Nevoid Basal Cell Carcinoma Syndrome: Genetics and Mechanism of Carcinogenesis
Bale A. The Nevoid Basal Cell Carcinoma Syndrome: Genetics and Mechanism of Carcinogenesis. Cancer Investigation 1997, 15: 180-186. PMID: 9095215, DOI: 10.3109/07357909709115772.Peer-Reviewed Original Research
1996
Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.
Chidambaram A, Goldstein AM, Gailani MR, Gerrard B, Bale SJ, DiGiovanna JJ, Bale AE, Dean M. Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients. Cancer Research 1996, 56: 4599-601. PMID: 8840969.Peer-Reviewed Original ResearchConceptsNevoid basal cell carcinoma syndromeNBCCS patientsMultiple basal cell carcinomasNevoid basal cell carcinoma syndrome patientsBasal cell carcinoma syndromeMultisystem autosomal dominant disorderBasal cell carcinomaAutosomal dominant disorderOvarian fibromaCell carcinomaSuch tumorsSyndrome patientsCarcinoma syndromePlantar pitsOdontogenic keratocystsEctopic calcificationGorlin syndromeClinical phenotypeDevelopmental anomaliesSyndromePatientsDominant disorderIntrafamilial variabilityTumorsHuman homologueMolecular analysis of chromosome 9q deletions in two Gorlin syndrome patients.
Shimkets R, Gailani M, Siu V, Yang-Feng T, Pressman C, Levanat S, Goldstein A, Dean M, Bale A. Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients. American Journal Of Human Genetics 1996, 59: 417-22. PMID: 8755929, PMCID: PMC1914731.Peer-Reviewed Original ResearchConceptsGorlin syndromeGorlin syndrome patientsSyndrome patientsMultiple basal cell carcinomasConductive hearing lossBasal cell carcinomaAllelic lossCancer predisposition syndromeAutosomal dominant disorderGerm-line deletionOvarian fibromaSecond patientCell carcinomaHearing lossGroup AGroup CPatientsSyndromeDominant mutationsSignificant phenotypic variabilityGorlin syndrome geneDominant disorderNull mutationXeroderma pigmentosum group AIdentical alterationsMutations 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 disorder
1995
The Gorlin syndrome gene: a tumor suppressor active in basal cell carcinogenesis and embryonic development.
Bale A, Gailani M, Leffell D. The Gorlin syndrome gene: a tumor suppressor active in basal cell carcinogenesis and embryonic development. Proceedings Of The Association Of American Physicians 1995, 107: 253-7. PMID: 8624861.Peer-Reviewed Original Research
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 ResearchMeSH KeywordsAllelesBasal Cell Nevus SyndromeChromosome MappingChromosomes, Human, Pair 9Gene DeletionGenes, Tumor SuppressorHumansConceptsOvarian 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 lossFine Mapping of the Locus for Nevoid Basal Cell Carcinoma Syndrome on Chromosome 9q
Compton J, Kearns K, Bale S, Goldstein A, Turner M, Bale A, McBride O. Fine Mapping of the Locus for Nevoid Basal Cell Carcinoma Syndrome on Chromosome 9q. Journal Of Investigative Dermatology 1994, 103: 178-181. PMID: 8040607, DOI: 10.1111/1523-1747.ep12392682.Peer-Reviewed Original ResearchLocalization of the gene for the nevoid basal cell carcinoma syndrome.
Goldstein A, Stewart C, Bale A, Bale S, Dean M. Localization of the gene for the nevoid basal cell carcinoma syndrome. American Journal Of Human Genetics 1994, 54: 765-73. PMID: 7909984, PMCID: PMC1918262.Peer-Reviewed Original Research