2014
Extensive sequence variation in the 3′ untranslated region of the KRAS gene in lung and ovarian cancer cases
Kim M, Chen X, Chin L, Paranjape T, Speed W, Kidd K, Zhao H, Weidhaas J, Slack FJ. Extensive sequence variation in the 3′ untranslated region of the KRAS gene in lung and ovarian cancer cases. Cell Cycle 2014, 13: 1030-1040. PMID: 24552817, PMCID: PMC3984301, DOI: 10.4161/cc.27941.Peer-Reviewed Original ResearchMeSH Keywords3' Untranslated RegionsCarcinoma, Non-Small-Cell LungCarcinoma, Ovarian EpithelialCase-Control StudiesFemaleHumansLung NeoplasmsMicroRNAsNeoplasms, Glandular and EpithelialOvarian NeoplasmsPolymorphism, Single NucleotideProto-Oncogene ProteinsProto-Oncogene Proteins p21(ras)Ras ProteinsConceptsMiRNA complementary sitesSequence variationComplementary sitesSingle nucleotide polymorphismsUntranslated regionRegulation of genesHigh-throughput sequencingExtensive sequence variationRegulation of KRASParticular single nucleotide polymorphismsOvarian cancer casesCapture enrichmentHuman diseasesSequence variantsImportant regulatorFunctional roleMiR-181Additional sequence variantsGenetic biomarkersCellular proliferationGenesNucleotide polymorphismsKRAS geneCancer casesUTR
2012
Genome-wide association study of Tourette's syndrome
Scharf JM, Yu D, Mathews CA, Neale BM, Stewart SE, Fagerness JA, Evans P, Gamazon E, Edlund CK, Service SK, Tikhomirov A, Osiecki L, Illmann C, Pluzhnikov A, Konkashbaev A, Davis LK, Han B, Crane J, Moorjani P, Crenshaw AT, Parkin MA, Reus VI, Lowe TL, Rangel-Lugo M, Chouinard S, Dion Y, Girard S, Cath DC, Smit JH, King RA, Fernandez TV, Leckman JF, Kidd KK, Kidd JR, Pakstis AJ, State MW, Herrera LD, Romero R, Fournier E, Sandor P, Barr CL, Phan N, Gross-Tsur V, Benarroch F, Pollak Y, Budman CL, Bruun RD, Erenberg G, Naarden AL, Lee PC, Weiss N, Kremeyer B, Berrío GB, Campbell DD, Cardona Silgado JC, Ochoa WC, Mesa Restrepo SC, Muller H, Valencia Duarte AV, Lyon GJ, Leppert M, Morgan J, Weiss R, Grados MA, Anderson K, Davarya S, Singer H, Walkup J, Jankovic J, Tischfield JA, Heiman GA, Gilbert DL, Hoekstra PJ, Robertson MM, Kurlan R, Liu C, Gibbs JR, Singleton A, Hardy J, Strengman E, Ophoff R, Wagner M, Moessner R, Mirel D, Posthuma D, Sabatti C, Eskin E, Conti D, Knowles J, Ruiz-Linares A, Rouleau G, Purcell S, Heutink P, Oostra B, McMahon W, Freimer N, Cox N, Pauls D. Genome-wide association study of Tourette's syndrome. Molecular Psychiatry 2012, 18: 721-728. PMID: 22889924, PMCID: PMC3605224, DOI: 10.1038/mp.2012.69.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAttention Deficit Disorder with HyperactivityCase-Control StudiesChromosomes, Human, Pair 9FemaleFibrillar CollagensGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansInternational CooperationMaleMeta-Analysis as TopicObsessive-Compulsive DisorderPolymorphism, Single NucleotideTourette SyndromeWhite PeopleYoung AdultConceptsGenome-wide association studiesFirst genome-wide association studyAssociation studiesTop signalsFull genetic architectureAncestry-matched controlsEuropean ancestry samplesGenetic architectureGWAS dataComplex inheritanceEuropean-derived populationsSusceptibility variantsSusceptibility genesEventual identificationEuropean ancestryCosta RicaChromosome 9q32Familial recurrence rateNorth AmericaComplete understandingAmerican populationCentral ValleyNeuropsychiatric diseasesDevelopmental disordersGenes
2010
A Variant in a MicroRNA complementary site in the 3′ UTR of the KIT oncogene increases risk of acral melanoma
Godshalk SE, Paranjape T, Nallur S, Speed W, Chan E, Molinaro AM, Bacchiocchi A, Hoyt K, Tworkoski K, Stern DF, Sznol M, Ariyan S, Lazova R, Halaban R, Kidd KK, Weidhaas JB, Slack FJ. A Variant in a MicroRNA complementary site in the 3′ UTR of the KIT oncogene increases risk of acral melanoma. Oncogene 2010, 30: 1542-1550. PMID: 21119596, PMCID: PMC3069149, DOI: 10.1038/onc.2010.536.Peer-Reviewed Original ResearchConceptsMessenger RNAsComplementary sitesNovel genetic markersKIT oncogeneTarget genesRegulatory relationshipsUntranslated regionGenetic markersHeritable riskFunctional variantsGenetic variantsOncogeneMultifaceted roleProtein levelsProtein expressionVariant resultsComplementary sequencesReporter dataUTRMelanoma pathogenesisMiR-221KIT variantsSeed regionExpressionVariants
2007
Motoneuron-specific NR3B gene: No association with ALS and evidence for a common null alleleSYMBOL
Niemann S, Landers J, Churchill M, Hosler B, Sapp P, Speed W, Lahn B, Kidd K, Brown R, Hayashi Y. Motoneuron-specific NR3B gene: No association with ALS and evidence for a common null alleleSYMBOL. Neurology 2007, 70: 666-676. PMID: 17687115, DOI: 10.1212/01.wnl.0000271078.51280.17.Peer-Reviewed Original ResearchMeSH KeywordsAllelesCase-Control StudiesDNA Mutational AnalysisGene FrequencyGenetic Predisposition to DiseaseGenetics, PopulationGenotypeHaplotypesHumansLinkage DisequilibriumMotor Neuron DiseaseMotor NeuronsPolymorphism, Single NucleotideReceptors, N-Methyl-D-AspartateSuperoxide DismutaseSuperoxide Dismutase-1ConceptsSporadic amyotrophic lateral sclerosisAmyotrophic lateral sclerosisSingle nucleotide polymorphismsGRIN3B geneGlutamate-mediated excitotoxicityCase-control studyFamilial amyotrophic lateral sclerosisIonotropic glutamate receptorsNervous system-related genesTag single nucleotide polymorphismsPolymorphic CAG repeatNMDA typeGlutamate receptorsLateral sclerosisReceptor responsesAllele frequenciesCommon polymorphismsUnreported single nucleotide polymorphismsNR3BCAG repeatsGenetic dysfunctionGRIN3BNucleotide polymorphismsNull allelesIndividuals