2009
Twenty-one-base-pair insertion polymorphism creates an enhancer element and potentiates SLC6A1 GABA transporter promoter activity
Hirunsatit R, George ED, Lipska BK, Elwafi HM, Sander L, Yrigollen CM, Gelernter J, Grigorenko EL, Lappalainen J, Mane S, Nairn AC, Kleinman JE, Simen AA. Twenty-one-base-pair insertion polymorphism creates an enhancer element and potentiates SLC6A1 GABA transporter promoter activity. Pharmacogenetics And Genomics 2009, 19: 53-65. PMID: 19077666, PMCID: PMC2791799, DOI: 10.1097/fpc.0b013e328318b21a.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAnimalsBase SequenceBlack or African AmericanCase-Control StudiesCell LineDNA PrimersEnhancer Elements, GeneticFemaleGABA Plasma Membrane Transport ProteinsGene ExpressionHippocampusHumansMaleMiceMiddle AgedMinisatellite RepeatsMolecular Sequence DataMutagenesis, InsertionalPharmacogeneticsPolymorphism, GeneticPromoter Regions, GeneticRecombinant ProteinsRNA, MessengerSchizophreniaSequence Homology, Nucleic AcidTranscriptional ActivationYoung Adult
2001
The Variable Number of Tandem Repeats Polymorphism of the Dopamine Transporter Gene Is Not Associated with Significant Change in Dopamine Transporter Phenotype in Humans
Martinez D, Gelernter J, Abi-Dargham A, van Dyck C, Kegeles L, Innis R, Laruelle M. The Variable Number of Tandem Repeats Polymorphism of the Dopamine Transporter Gene Is Not Associated with Significant Change in Dopamine Transporter Phenotype in Humans. Neuropsychopharmacology 2001, 24: 553-560. PMID: 11282255, DOI: 10.1016/s0893-133x(00)00216-5.Peer-Reviewed Original ResearchMeSH KeywordsAdultAmphetamineAttention Deficit Disorder with HyperactivityBenzamidesCarrier ProteinsCocaineCocaine-Related DisordersDopamineDopamine AntagonistsDopamine Plasma Membrane Transport ProteinsGenotypeHumansIodine RadioisotopesMembrane GlycoproteinsMembrane Transport ProteinsMinisatellite RepeatsNeostriatumNerve Tissue ProteinsPhenotypePolymorphism, GeneticPsychotic DisordersPyrrolidinesRadiopharmaceuticalsSchizophreniaTomography, Emission-Computed, Single-PhotonConceptsAmphetamine-induced dopamine releaseDopamine releaseDAT expressionDopamine transporterDifferent patient populationsAttention deficit hyperactivity disorderDeficit hyperactivity disorderNeurochemical phenotypePatient populationHealthy controlsDAT densityComputerized emission tomographyDopamine transmissionClinical phenotypeDiagnostic groupsSignificant associationEmission tomographyCocaine-induced paranoiaHyperactivity disorderTandem repeat polymorphismVNTR polymorphismDopamine transporter geneRepeat polymorphismTotal sample
2000
Prediction of Dopamine Transporter Binding Availability by Genotype: A Preliminary Report
Jacobsen LK, Staley JK, Zoghbi SS, Seibyl JP, Kosten TR, Innis RB, Gelernter J. Prediction of Dopamine Transporter Binding Availability by Genotype: A Preliminary Report. American Journal Of Psychiatry 2000, 157: 1700-1703. PMID: 11007732, DOI: 10.1176/appi.ajp.157.10.1700.Peer-Reviewed Original ResearchMeSH KeywordsAdultCarrier ProteinsDNADopamineDopamine Plasma Membrane Transport ProteinsFemaleGenotypeHumansMaleMembrane GlycoproteinsMembrane Transport ProteinsMinisatellite RepeatsNerve Tissue ProteinsPolymerase Chain ReactionPolymorphism, GeneticSerotonin Plasma Membrane Transport ProteinsTomography, Emission-Computed, Single-Photon
1999
Population studies of polymorphisms of the serotonin transporter protein gene
Gelernter J, Cubells JF, Kidd JR, Pakstis AJ, Kidd KK. Population studies of polymorphisms of the serotonin transporter protein gene. American Journal Of Medical Genetics 1999, 88: 61-66. PMID: 10050969, DOI: 10.1002/(sici)1096-8628(19990205)88:1<61::aid-ajmg11>3.0.co;2-k.Peer-Reviewed Original ResearchConceptsAllele frequency variationImportant genetic variationTransporter protein geneSerotonin transporter protein geneProtein lociGenetic variationProtein geneAssociation studiesFunctional significancePopulation stratificationDepression-related phenotypesAllele frequenciesHaplotype frequenciesLociPolymorphismSLC6A4 polymorphismsGenesGlobal variationVNTR polymorphismPhenotypeDisequilibriumPopulationVariationPromoter polymorphismPopulation studies
1997
D4 Dopamine-Receptor (DRD4) Alleles and Novelty Seeking in Substance-Dependent, Personality-Disorder, and Control Subjects
Gelernter J, Kranzler H, Coccaro E, Siever L, New A, Mulgrew CL. D4 Dopamine-Receptor (DRD4) Alleles and Novelty Seeking in Substance-Dependent, Personality-Disorder, and Control Subjects. American Journal Of Human Genetics 1997, 61: 1144-1152. PMID: 9345090, PMCID: PMC1716050, DOI: 10.1086/301595.Peer-Reviewed Original Research