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
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 disorderA Mammalian patched Homolog Is Expressed in Target Tissues of sonic hedgehog and Maps to a Region Associated with Developmental Abnormalities (∗)
Hahn H, Christiansen J, Wicking C, Zaphiropoulos P, Chidambaram A, Gerrard B, Vorechovsky I, Bale A, Toftgard R, Dean M, Wainwright B. A Mammalian patched Homolog Is Expressed in Target Tissues of sonic hedgehog and Maps to a Region Associated with Developmental Abnormalities (∗). Journal Of Biological Chemistry 1996, 271: 12125-12128. PMID: 8647801, DOI: 10.1074/jbc.271.21.12125.Peer-Reviewed Original ResearchConceptsLimb budSonic hedgehogSegment polarity genesIntegral membrane proteinsVentral neural tubePolarity genesHydropathy analysisPatched proteinCorrect patterningPutative proteinImaginal discsMembrane proteinsDrosophila hedgehogHuman PatchedCDNA sequencePosterior ectodermMurine homologPatched expressionMouse embryosClose functional relationshipNeural tubeLarval segmentsRegion AssociatedAmino acidsHedgehog
1990
Analysis of Gonadotropin-Releasing Hormone Gene Structure in Families with Familial Central Precocious Puberty and Idiopathic Hypogonadotropic Hypogonadism
NAKAYAMA Y, WONDISFORD F, LASH R, BALE A, WEINTRAUB B, CUTLER G, RADOVICK S. Analysis of Gonadotropin-Releasing Hormone Gene Structure in Families with Familial Central Precocious Puberty and Idiopathic Hypogonadotropic Hypogonadism. The Journal Of Clinical Endocrinology & Metabolism 1990, 70: 1233-1238. PMID: 2186053, DOI: 10.1210/jcem-70-5-1233.Peer-Reviewed Original Research
1989
Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 622-643
Kidd KK, Bowcock AM, Schmidtke J, Track RK, Ricciuti F, Hutchings G, Bale A, Pearson P, Willard HF, Gelernter J, Giuffra L, Kubzdela K. Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms pp. 622-643. Cytogenetic And Genome Research 1989, 51: 622-643. PMID: 2676386, DOI: 10.1159/000132810.Peer-Reviewed Original ResearchMeSH KeywordsChromosome MappingCloning, MolecularDNAGenome, HumanGenomic LibraryHumansPolymorphism, Genetic