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
1994
Localization 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
1992
Assignment of a Locus for Familial Melanoma, MLM, to Chromosome 9p13-p22
Cannon-Albright L, Goldgar D, Meyer L, Lewis C, Anderson D, Fountain J, Hegi M, Wiseman R, Petty E, Bale A, Olopade O, Diaz M, Kwiatkowski D, Piepkorn M, Zone J, Skolnick M. Assignment of a Locus for Familial Melanoma, MLM, to Chromosome 9p13-p22. Science 1992, 258: 1148-1152. PMID: 1439824, DOI: 10.1126/science.1439824.Peer-Reviewed Original ResearchConceptsMelanoma susceptibility locusSusceptibility lociFamilial melanoma susceptibilityInterferon alpha genesFamilial melanomaMultipoint linkage analysisShort tandem repeat markersRepeat markersTandem repeat markersChromosomal regionsGenetic markersLinkage analysisLociSomatic lossMelanoma susceptibilityMelanoma tumorsGermline deletionChromosome 9p21Maximum location scoreHomozygous deletionCritical roleCandidate regionsDeletionUtah kindredsChromosomesRegional localization of the selenocysteine tRNA gene (TRSP) on human chromosome 19
Mitchell A, Bale A, Lee B, Hatfield D, Harley H, Rundle S, Fan Y, Fukushima Y, Shows T, McBride O. Regional localization of the selenocysteine tRNA gene (TRSP) on human chromosome 19. Cytogenetic And Genome Research 1992, 61: 117-120. PMID: 1395717, DOI: 10.1159/000133385.Peer-Reviewed Original Research
1991
Localization of CYP2F1 by multipoint linkage analysis and pulsed-field gel electrophoresis
Bale A, Mitchell A, Gonzalez F, McBride O. Localization of CYP2F1 by multipoint linkage analysis and pulsed-field gel electrophoresis. Genomics 1991, 10: 284-286. PMID: 2045106, DOI: 10.1016/0888-7543(91)90514-f.Peer-Reviewed Original ResearchA New Point Mutation in the 3,5,3′-Triiodothyronine-Binding Domain of the c-erbAβ Thyroid Hormone Receptor Is Tightly Linked to Generalized Thyroid Hormone Resistance
Usala S, Menke J, Watson T, Bérard W, Bradley C, Bale A, Lash R, Weintraub B. A New Point Mutation in the 3,5,3′-Triiodothyronine-Binding Domain of the c-erbAβ Thyroid Hormone Receptor Is Tightly Linked to Generalized Thyroid Hormone Resistance. The Journal Of Clinical Endocrinology & Metabolism 1991, 72: 32-38. PMID: 1846005, DOI: 10.1210/jcem-72-1-32.Peer-Reviewed Original ResearchMeSH KeywordsBase SequenceBinding SitesCytosineDeoxyribonucleases, Type II Site-SpecificDrug ResistanceEndocrine System DiseasesFemaleHumansLod ScoreMaleMolecular Sequence DataMutationPedigreePituitary GlandProto-Oncogene ProteinsReceptors, Thyroid HormoneSyndromeThyroid HormonesThyrotropin-Releasing HormoneTriiodothyronine
1989
Linkage analysis of multiple endocrine neoplasia type 1 with INT2 and other markers on chromosome 11
Bale S, Bale A, Stewart K, Dachowski L, McBride O, Glaser T, Green J, Mulvihill J, Brandi M, Sakaguchi K, Aurbach G, Marx S. Linkage analysis of multiple endocrine neoplasia type 1 with INT2 and other markers on chromosome 11. Genomics 1989, 4: 320-322. PMID: 2565877, DOI: 10.1016/0888-7543(89)90336-4.Peer-Reviewed Original ResearchConceptsChromosome 11Skeletal muscle glycogen phosphorylasePolymorphic DNA (RAPD) markersMuscle glycogen phosphorylaseSingle large pedigreeDNA markersGene locusFibroblast growth factorBasic fibroblast growth factorMultiple endocrine neoplasia type 1Glycogen phosphorylaseLarge pedigreeGenesLociRecent findingsMultipoint analysisGrowth factorMEN1 geneMarkersINT2PedigreeMEN1 patientsPhosphorylaseType 1
1987
Linkage analysis in spinopontine atrophy: Correlation or HLA linkage with phenotypic findings in hereditary ataxia
Bale A, Bale S, Schlesinger S, McFarland H, Opitz J, Reynolds J. Linkage analysis in spinopontine atrophy: Correlation or HLA linkage with phenotypic findings in hereditary ataxia. American Journal Of Medical Genetics 1987, 27: 595-602. PMID: 3477098, DOI: 10.1002/ajmg.1320270312.Peer-Reviewed Original ResearchConceptsHLA linkageHereditary ataxiasLoss of proprioceptionNervous system signsExtraocular movement abnormalitiesNeuropathologic changesNeuropathological descriptionOlivopontocerebellar atrophyMovement abnormalitiesAffected family membersPathologic changesSystem signsLower limbsType 1AtrophyHLAPhenotypic findingsNegative resultsAtaxiaFamily membersPresent familyDysphagiaDysarthriaReflexAbnormalities