2011
Variation in Genes Encoding the Neuroactive Steroid Synthetic Enzymes 5α‐Reductase Type 1 and 3α‐Reductase Type 2 Is Associated With Alcohol Dependence
Milivojevic V, Kranzler HR, Gelernter J, Burian L, Covault J. Variation in Genes Encoding the Neuroactive Steroid Synthetic Enzymes 5α‐Reductase Type 1 and 3α‐Reductase Type 2 Is Associated With Alcohol Dependence. Alcohol Clinical And Experimental Research 2011, 35: 946-952. PMID: 21323680, PMCID: PMC3083475, DOI: 10.1111/j.1530-0277.2010.01425.x.Peer-Reviewed Original ResearchMeSH Keywords3-Hydroxysteroid Dehydrogenases3-Oxo-5-alpha-Steroid 4-DehydrogenaseAdultAlcoholismAldo-Keto Reductase Family 1 Member C3Base SequenceCase-Control StudiesFemaleGenetic VariationHumansHydroxyprostaglandin DehydrogenasesMaleMembrane ProteinsMiddle AgedMolecular Sequence DataPolymorphism, Single NucleotideYoung AdultConceptsEndogenous neuroactive steroidsNeuroactive steroidsAlcohol dependenceAlcohol effectsType 2Minor alleleNon-Hispanic CaucasiansRatio of dihydrotestosteroneBladder cancerG alleleC alleleSteroid biosynthetic enzymesType 1Important mediatorKey mediatorSteroidsSingle nucleotide polymorphismsCase-control sampleHuman brainType IMarkersBiological phenotypesNucleotide polymorphismsIndirect evidenceMediators
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
A Quantitative-Trait Analysis of Human Plasma–Dopamine β-Hydroxylase Activity: Evidence for a Major Functional Polymorphism at the DBH Locus
Zabetian C, Anderson G, Buxbaum S, Elston R, Ichinose H, Nagatsu T, Kim K, Kim C, Malison R, Gelernter J, Cubells J. A Quantitative-Trait Analysis of Human Plasma–Dopamine β-Hydroxylase Activity: Evidence for a Major Functional Polymorphism at the DBH Locus. American Journal Of Human Genetics 2001, 68: 515-522. PMID: 11170900, PMCID: PMC1235285, DOI: 10.1086/318198.Peer-Reviewed Original ResearchConceptsQuantitative trait lociMajor quantitative trait locusMajor genetic markerH activityQuantitative trait analysisStructural geneGenotype/phenotype correlationMutational analysisExtreme phenotypesGenetic markersDBH geneHuman diseasesGenesDBH locusNovel polymorphismsCodominant inheritancePhenotype correlationUnidentified polymorphismsLociPlasma dopamine β-hydroxylase activityΒ-hydroxylase activityPolymorphismFunctional polymorphismsBeta HMajor functional polymorphisms
1994
Allelic Variation in the D4 Dopamine Receptor (DRD4) Gene Does Not Predict Response to Clozapine
Rao PA, Pickar D, Gejman PV, Ram A, Gershon ES, Gelernter J. Allelic Variation in the D4 Dopamine Receptor (DRD4) Gene Does Not Predict Response to Clozapine. JAMA Psychiatry 1994, 51: 912-917. PMID: 7944879, DOI: 10.1001/archpsyc.1994.03950110072009.Peer-Reviewed Original ResearchConceptsClinical responseTherapeutic effectAtypical antipsychotic drug clozapineClozapine's therapeutic effectsTreatment-refractory schizophreniaPathophysiology of schizophreniaAntipsychotic drug clozapineD4 dopamine receptorsDRD4 allelesPutative third cytoplasmic loopSchizoaffective patientsTherapeutic responseTherapy variesDopamine receptorsSchizoaffective subjectsTreatment responseThird cytoplasmic loopDrug clozapineClozapineDopamine receptor geneSchizoaffective disorderD4 receptorsPolymerase chain reaction amplificationReceptor allelesChain reaction amplificationPstl RFLP at the SERT locus
Gelernter J, Freimer M. Pstl RFLP at the SERT locus. Human Molecular Genetics 1994, 3: 383-383. PMID: 7911700, DOI: 10.1093/hmg/3.2.383.Peer-Reviewed Original ResearchBase SequenceCarrier ProteinsChromosomes, Human, Pair 17Deoxyribonucleases, Type II Site-SpecificDNA PrimersGenesHumansMembrane GlycoproteinsMembrane Transport ProteinsMolecular Sequence DataNerve Tissue ProteinsPolymerase Chain ReactionPolymorphism, Restriction Fragment LengthSerotonin Plasma Membrane Transport ProteinsNo structural mutation in the dopamine D2 receptor gene in alcoholism or schizophrenia. Analysis using denaturing gradient gel electrophoresis.
Gejman PV, Ram A, Gelernter J, Friedman E, Cao Q, Pickar D, Blum K, Noble EP, Kranzler HR, O'Malley S. No structural mutation in the dopamine D2 receptor gene in alcoholism or schizophrenia. Analysis using denaturing gradient gel electrophoresis. JAMA 1994, 271: 204-8. PMID: 8277546, DOI: 10.1001/jama.271.3.204.Peer-Reviewed Original Research
1993
Eliminating mitochondrial DNA competition for nuclear DNA primers.
Zullo S, Kennedy JL, Gelernter J, Polymeropoulos MH, Tallini G, Pakstis AJ, Shapiro MB, Merril CR, Kidd KK. Eliminating mitochondrial DNA competition for nuclear DNA primers. Genome Research 1993, 3: 39-45. PMID: 7693114, DOI: 10.1101/gr.3.1.39.Peer-Reviewed Original Research
1991
Sequence tagged site (STS) Taql RFLP at dopamine β-hydroxylase (DBH)
Gelernter J, Gejman PV, Bisighini S, Kidd KK. Sequence tagged site (STS) Taql RFLP at dopamine β-hydroxylase (DBH). Nucleic Acids Research 1991, 19: 1957-1957. PMID: 1674371, PMCID: PMC328142, DOI: 10.1093/nar/19.8.1957.Peer-Reviewed Original Research
1990
Human dopamine D1 receptor encoded by an intronless gene on chromosome 5
Sunahara R, Niznik H, Weiner D, Stormann T, Brann M, Kennedy J, Gelernter J, Rozmahel R, Yang Y, Israel Y, Seeman P, O'Dowd B. Human dopamine D1 receptor encoded by an intronless gene on chromosome 5. Nature 1990, 347: 80-83. PMID: 1975640, DOI: 10.1038/347080a0.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsBase SequenceBenzazepinesBrain ChemistryCattleChromosomes, Human, Pair 5Cloning, MolecularGlycosylationHumansIntronsMaleMolecular Sequence DataNucleic Acid HybridizationPhosphorylationPolymorphism, Restriction Fragment LengthRatsRats, Inbred StrainsReceptors, DopamineReceptors, Dopamine D1Restriction MappingRNA, MessengerTissue DistributionTransfectionConceptsD1 receptorsD2 receptorsChromosome 5Adenylyl cyclaseCyclic AMP-dependent proteinHuman dopamine D1 receptorDopamine D1 receptorsHuman D1 receptorD1 receptor geneFamily of receptorsDrug therapyDopamine D1Dopamine D2Intronless genesParkinson's diseasePsychomotor disordersRestriction fragment length polymorphismFragment length polymorphismReceptorsFunctional typesReceptor familyDrug addictionReceptor geneAmino acidsLong arm