2002
MEN1 tumor‐suppressor protein localizes to telomeres during meiosis
Suphapeetiporn K, Greally JM, Walpita D, Ashley T, Bale AE. MEN1 tumor‐suppressor protein localizes to telomeres during meiosis. Genes Chromosomes And Cancer 2002, 35: 81-85. PMID: 12203793, DOI: 10.1002/gcc.10113.Peer-Reviewed Original ResearchConceptsSomatic cellsTelomerase activityAbsence of meninTumor suppressor gene MEN1Normal cell physiologyTelomeric protein TRF2Normal telomerase activityTumor suppressor proteinRole of meninMeiotic telomeresTelomere functionProtein TRF2Meiotic cellsTranscriptional activationNuclear proteinsCell physiologyFunctional motifsDifferent proteinsTumor suppressorTelomeresMeninElevated telomerase activityDifferent tissuesJunDCancer predisposition syndromeHEDGEHOG SIGNALING AND HUMAN DISEASE
Bale AE. HEDGEHOG SIGNALING AND HUMAN DISEASE. Annual Review Of Genomics And Human Genetics 2002, 3: 47-65. PMID: 12142354, DOI: 10.1146/annurev.genom.3.022502.103031.Peer-Reviewed Original ResearchConceptsEarly Drosophila developmentHedgehog pathwayDrosophila developmentDevelopmental genesDrosophila melanogasterHuman embryogenesisHedgehog signalingDevelopmental pathwaysGenetic studiesHuman diseasesCell growthEmbryogenesisPathwayKey roleMelanogasterVertebratesImportant roleCentral nervous systemAxial skeletonGenesNervous systemSignalingMutationsDifferentiationRegulation
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 allele