2023
79. A LARGE-SCALE GENOME-WIDE ASSOCIATION STUDY OF COCAINE USE DISORDER
Deak J, Zhou H, Levey D, Galimberti M, Farajzadeh L, Hougaard D, Jennings M, Davis L, Sanchez-Roige S, Demontis D, Børglum A, Kranzler H, Gaziano M, Stein M, Gelernter J. 79. A LARGE-SCALE GENOME-WIDE ASSOCIATION STUDY OF COCAINE USE DISORDER. European Neuropsychopharmacology 2023, 75: s99. DOI: 10.1016/j.euroneuro.2023.08.184.Peer-Reviewed Original ResearchGenome-wide association studiesLarge genome-wide association studiesGWS lociBackground Genome-wide association studiesAssociation studiesLarge-scale genome-wide association studiesTissue expression analysisGenetic architectureGWAS analysisIndividuals of AfricanGWAS discoverySingle locusExpression analysisGenetic dataChromosome 11Silico analysisGenetic discoveriesMillion Veteran ProgramChromosome 13Biological understandingLociEuropean ancestryBiological componentsVeteran ProgramNovel findings
2022
Recurrent Loss of Heterozygosity in Pancreatic Neuroendocrine Tumors
Parilla M, Chapel D, Hechtman J, Wanjari P, Jabbour T, Sharma A, Ritterhouse L, Segal J, Vanderbilt C, Klimstra D, Setia N, Tang L. Recurrent Loss of Heterozygosity in Pancreatic Neuroendocrine Tumors. The American Journal Of Surgical Pathology 2022, 46: 823-831. PMID: 35125451, PMCID: PMC9106831, DOI: 10.1097/pas.0000000000001860.Peer-Reviewed Original ResearchConceptsPancreatic neuroendocrine tumorsNeuroendocrine tumorsChromosomal copy number alterationsLoss of chromosome 11Loss of chromosome 1Recurrent loss of heterozygosityLoss of heterozygosityCopy number alterationsDisease-specific mortalityPrognostic markerChromosome aneuploidyTumor typesNext-generation sequencingChromosomal subgroupsAggressive subgroupTumorRecurrent lossChromosome 1Chromosome 11Third groupSubgroupsMortalityStatistical analysisMultivariate statistical analysisAneuploidy
2019
Genome-wide Association Study of Maximum Habitual Alcohol Intake in >140,000 U.S. European and African American Veterans Yields Novel Risk Loci
Gelernter J, Sun N, Polimanti R, Pietrzak RH, Levey DF, Lu Q, Hu Y, Li B, Radhakrishnan K, Aslan M, Cheung KH, Li Y, Rajeevan N, Sayward F, Harrington K, Chen Q, Cho K, Honerlaw J, Pyarajan S, Lencz T, Quaden R, Shi Y, Hunter-Zinck H, Gaziano JM, Kranzler HR, Concato J, Zhao H, Stein MB, Program D, Program M. Genome-wide Association Study of Maximum Habitual Alcohol Intake in >140,000 U.S. European and African American Veterans Yields Novel Risk Loci. Biological Psychiatry 2019, 86: 365-376. PMID: 31151762, PMCID: PMC6919570, DOI: 10.1016/j.biopsych.2019.03.984.Peer-Reviewed Original ResearchConceptsAdditional genome-wide significant lociRisk lociWide association study (GWAS) analysisAssociation studiesGenome-wide significant lociGenome-wide association studiesGenetic correlationsWide association studyNovel risk lociAlcohol-related traitsStrong statistical supportSmoking-related traitsAdditional genomesSignificant lociPancreatic delta cellsChromosome 4Chromosome 11Protein productsChromosome 8Quantitative phenotypesMillion Veteran ProgramVeterans Affairs Million Veteran ProgramLociCell typesChromosome 17
2016
Truncating PREX2 mutations activate its GEF activity and alter gene expression regulation in NRAS-mutant melanoma
Lissanu Deribe Y, Shi Y, Rai K, Nezi L, Amin S, Wu C, Akdemir K, Mahdavi M, Peng Q, Chang Q, Hornigold K, Arold S, Welch H, Garraway L, Chin L. Truncating PREX2 mutations activate its GEF activity and alter gene expression regulation in NRAS-mutant melanoma. Proceedings Of The National Academy Of Sciences Of The United States Of America 2016, 113: e1296-e1305. PMID: 26884185, PMCID: PMC4780599, DOI: 10.1073/pnas.1513801113.Peer-Reviewed Original ResearchConceptsPREX2 mutationsCross-species gene expression analysisGuanine nucleotide exchange factor activityNucleotide exchange factor activityGene expression regulationPI3K/PTEN/Akt pathwayExchange factor activityMelanoma developmentPTEN/AKT pathwayCell cycle regulatorsGene expression analysisExpression regulationGEF activityCytoskeleton organizationCDKN1C geneRegulatory regionsExpression analysisGene expressionCycle regulatorsDNA hypomethylationCell cycleChromosome 11Tumor suppressorBiological pathwaysMechanistic basis
2005
Roles of PSF protein and VL30 RNA in reversible gene regulation
Song X, Sun Y, Garen A. Roles of PSF protein and VL30 RNA in reversible gene regulation. Proceedings Of The National Academy Of Sciences Of The United States Of America 2005, 102: 12189-12193. PMID: 16079199, PMCID: PMC1189330, DOI: 10.1073/pnas.0505179102.Peer-Reviewed Original ResearchMeSH KeywordsCell Line, TumorChromatin ImmunoprecipitationDNA PrimersDNA-Binding ProteinsElectrophoretic Mobility Shift AssayGene Expression Regulation, NeoplasticHumansMicroarray AnalysisProtein BindingProtein Structure, TertiaryPTB-Associated Splicing FactorRetroelementsReverse Transcriptase Polymerase Chain ReactionRNA-Binding ProteinsRNA, UntranslatedConceptsDNA-binding domainRNA-binding domainReversible gene regulationGene regulationHuman tumor suppressor proteinRNA regulatory mechanismsHuman chromosome 11Tumor suppressor proteinVL30 RNAsHuman cell linesMouse genomeVL30 RNAProtein PSFRetroelement RNAsRegulatory proteinsRegulatory mechanismsMouse cellsPSF proteinBlastocyst cellsChromosome 11Oncogenic genesHuman cellsMultiple copiesRNARetroelementsInterchromosomal associations between alternatively expressed loci
Spilianakis CG, Lalioti MD, Town T, Lee GR, Flavell RA. Interchromosomal associations between alternatively expressed loci. Nature 2005, 435: 637-645. PMID: 15880101, DOI: 10.1038/nature03574.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAnimalsCell NucleusCells, CulturedChromatinChromosome PositioningChromosomes, MammalianCytokinesDeoxyribonuclease IEnhancer Elements, GeneticGene Expression RegulationIn Situ Hybridization, FluorescenceInterferon-gammaInterleukinsLocus Control RegionMiceMice, Inbred C57BLPolymerase Chain ReactionPromoter Regions, GeneticRNA, MessengerTh1 CellsTh2 CellsTranscriptional ActivationConceptsLocus control regionTh2 locus control regionInterchromosomal interactionsDNase I hypersensitive sitesTh2 cytokine locusT cell fateEukaryotic genesIntrachromosomal interactionsChromatin conformationInterchromosomal associationsCytokine genesDifferent chromosomesGene activationSeparate chromosomesControl regionRegulatory regionsHypersensitive sitesCytokine locusTh2 cytokine genesChromosome 10Gene expressionPromoter regionChromosome 11GenesFunctional consequences
1992
The recombination activating genes, RAG 1 and RAG 2, are on chromosome 11p in humans and chromosome 2p in mice
Oettinger M, Stanger B, Schatz D, Glaser T, Call K, Housman D, Baltimore D. The recombination activating genes, RAG 1 and RAG 2, are on chromosome 11p in humans and chromosome 2p in mice. Immunogenetics 1992, 35: 97-101. PMID: 1735560, DOI: 10.1007/bf00189518.Peer-Reviewed Original ResearchConceptsRAG locusChromosome 11pRAG-2RAG-1Human chromosome 11pGenes RAG-1Hybrid cell linesJoining (V(D)J) recombinationChromosomal localizationChromosomal locationAdjacent genesCell hybridsHuman recombinationSouthern analysisChromosome 11Human diseasesGenesChromosome 2pLociCell linesRetardation syndromeRecombinationDeletionHybridsLocalization
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 1One Form of Bipolar Affective Disorder is Mapped to Chromosome 11
Kidd K, Egeland J, Gerhard D, Pauls D, Sussex J, Allen C, Hostetter A, Kidd J, Pakstis A, Housman D. One Form of Bipolar Affective Disorder is Mapped to Chromosome 11. 1989, 184-187. DOI: 10.1007/978-1-4612-3524-8_41.Peer-Reviewed Original ResearchComplex human disordersGenetic linkageGenetic markersHuman disordersComplex traitsRestriction fragment length polymorphismHuman genomeFragment length polymorphismMajor locusChromosome 11Length polymorphismBipolar affective disorderGenomeLociTraitsDNAMarkersLinkageGeneticistsPolymorphismLarge numberDiscoveryFirst step
1988
Tyrosine hydroxylase maps to the short arm of chromosome 11 proximal to the insulin and HRAS1 loci
Xue F, Kidd J, Pakstis A, Castiglione C, Mallet J, Kidd K. Tyrosine hydroxylase maps to the short arm of chromosome 11 proximal to the insulin and HRAS1 loci. Genomics 1988, 2: 288-293. PMID: 2906039, DOI: 10.1016/0888-7543(88)90016-x.Peer-Reviewed Original Research
1987
Bipolar affective disorders linked to DNA markers on chromosome 11
Egeland J, Gerhard D, Pauls D, Sussex J, Kidd K, Alien C, Hostetter A, Housman D. Bipolar affective disorders linked to DNA markers on chromosome 11. Nature 1987, 325: 783-787. PMID: 2881209, DOI: 10.1038/325783a0.Peer-Reviewed Original Research
1984
Identification of a recent recombination event within the human beta-globin gene cluster.
Gerhard D, Kidd K, Kidd J, Egeland J, Housman D. Identification of a recent recombination event within the human beta-globin gene cluster. Proceedings Of The National Academy Of Sciences Of The United States Of America 1984, 81: 7875-7879. PMID: 6096866, PMCID: PMC392255, DOI: 10.1073/pnas.81.24.7875.Peer-Reviewed Original ResearchConceptsBeta-globin gene clusterHuman beta-globin gene clusterGene clusterRecombination eventsChromosome 11DNA sequence polymorphismsRecent recombination eventsGenetic recombination eventsMeiotic crossingDNA regionsDNA markersC-Ha-rasSequence polymorphismsReference pedigreesCrossover eventsOncogene c-Ha-rasPreproparathyroid hormoneSegment 12PedigreeD11S12HaplotypesInheritanceClustersRegionHot spots
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