2009
A sequencing‐based survey of functional APAF1 alleles in a large sample of individuals with affective illness and population controls
Amin Z, Kanarek K, Krupitsky E, Walderhaug E, Ilomäki R, Blumberg H, Price LH, Bhagwagar Z, Carpenter LL, Tyrka AR, Magnusson A, Landrø NI, Zvartau E, Gelernter J, Epperson CN, Räsänen P, Siironen J, Lappalainen J. A sequencing‐based survey of functional APAF1 alleles in a large sample of individuals with affective illness and population controls. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2009, 153B: 332-335. PMID: 19455599, PMCID: PMC3580167, DOI: 10.1002/ajmg.b.30984.Peer-Reviewed Original ResearchTwenty-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
2004
Association study of personality factors and the Asn40Asp polymorphism at the μ-opioid receptor gene (OPRM1)
Hernandez-Avila CA, Covault J, Gelernter J, Kranzler HR. Association study of personality factors and the Asn40Asp polymorphism at the μ-opioid receptor gene (OPRM1). Psychiatric Genetics 2004, 14: 89-92. PMID: 15167694, DOI: 10.1097/01.ypg.0000107931.32051.c7.Peer-Reviewed Original ResearchConceptsMu-opioid receptor proteinΜ-opioid receptor geneSubstance-dependent subjectsAsn40Asp polymorphismSubstance dependence diagnosesHealthy subjectsAllelic associationBlood samplesDependence diagnosisDiagnostic InterviewDemographic featuresExtracellular domainFunctional polymorphismsReceptor geneReceptor extracellular domainReceptor proteinAssociationNEO-Five Factor InventorySubjectsAssociation studiesFive-Factor InventoryPolymorphismAsn40AspPersonality factorsDiagnosis
2002
A detailed physical map of the 6p reading disability locus, including new markers and confirmation of recombination suppression
Ahn J, Won TW, Kaplan DE, Londin ER, Kuzmič P, Gelernter J, Gruen JR. A detailed physical map of the 6p reading disability locus, including new markers and confirmation of recombination suppression. Human Genetics 2002, 111: 339-349. PMID: 12384775, DOI: 10.1007/s00439-002-0771-x.Peer-Reviewed Original Research
2001
Human GABAB receptor 1 gene: Eight novel sequence variants
Hisama F, Gruen J, Choi J, Huseinovic M, Grigorenko E, Pauls D, Mattson R, Gelernter J, Wood F, Goei V. Human GABAB receptor 1 gene: Eight novel sequence variants. Human Mutation 2001, 17: 349-350. PMID: 11295833, DOI: 10.1002/humu.34.Peer-Reviewed Original ResearchMeSH KeywordsChromosome MappingChromosomes, Human, Pair 6DNA Mutational AnalysisDNA PrimersExonsGene FrequencyGenetic Predisposition to DiseaseGenetic VariationHumansIntronsMental DisordersMutationMutation, MissensePolymorphism, GeneticPolymorphism, Restriction Fragment LengthPolymorphism, Single-Stranded ConformationalReceptors, GABA-BUnited StatesConceptsNeurobehavioral disordersPrincipal inhibitory neurotransmitterHuman leukocyte antigen (HLA) regionInhibitory neurotransmitterPharmacogenetic studiesGene mutationsAntigen regionIntron variantsMissense mutationsDistinct mutationsDisordersLinkage studiesReceptor mapsAmerican populationGABBR1MutationsSusceptibility regionsEpilepsyCandidate genesDNA variantsGABANeurotransmittersSchizophreniaBrain
1994
Pstl 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 Proteins
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