2017
A genome-wide gene-by-trauma interaction study of alcohol misuse in two independent cohorts identifies PRKG1 as a risk locus
Polimanti R, Kaufman J, Zhao H, Kranzler HR, Ursano RJ, Kessler RC, Gelernter J, Stein MB. A genome-wide gene-by-trauma interaction study of alcohol misuse in two independent cohorts identifies PRKG1 as a risk locus. Molecular Psychiatry 2017, 23: 154-160. PMID: 28265120, PMCID: PMC5589475, DOI: 10.1038/mp.2017.24.Peer-Reviewed Original ResearchConceptsGenome-wide interaction studyGene Ontology (GO) enrichment analysisOntology enrichment analysisProtein kinase 1Protein regulationSame effect directionCyclic GMP-dependent protein kinase 1Circadian rhythm regulationRisk lociWide geneEnrichment analysisInteraction studiesKinase 1Individual genetic riskPsychiatric geneticsCalcium-activated potassium channelsGenesLociPRKG1Potassium channelsEffect directionRhythm regulationAlcohol use problemsRegulationAlcohol misuse
2008
Genetic Variants of Nogo-66 Receptor with Possible Association to Schizophrenia Block Myelin Inhibition of Axon Growth
Budel S, Padukkavidana T, Liu BP, Feng Z, Hu F, Johnson S, Lauren J, Park JH, McGee AW, Liao J, Stillman A, Kim JE, Yang BZ, Sodi S, Gelernter J, Zhao H, Hisama F, Arnsten AF, Strittmatter SM. Genetic Variants of Nogo-66 Receptor with Possible Association to Schizophrenia Block Myelin Inhibition of Axon Growth. Journal Of Neuroscience 2008, 28: 13161-13172. PMID: 19052207, PMCID: PMC2892845, DOI: 10.1523/jneurosci.3828-08.2008.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBrainChick EmbryoChlorocebus aethiopsChromosome MappingCodonCOS CellsFemaleGenetic Predisposition to DiseaseGPI-Linked ProteinsGrowth ConesGrowth InhibitorsHumansMaleMiceMice, KnockoutMutationMyelin ProteinsNerve Fibers, MyelinatedNeurogenesisNeuronal PlasticityNogo Receptor 1Organ Culture TechniquesRatsReceptors, Cell SurfaceSchizophreniaConceptsMyelin inhibitionNogo-66 receptorCase-control analysisMyelin-specific genesAxonal sproutingMyelin signalGenetic predispositionAxon inhibitionNeuronal culturesPossible associationReceptor 1Disease riskAxon growthSchizophreniaAxonal proteinsPotential endophenotypeMemory functionGenetic variantsDysfunctional proteinsInhibitionSchizophrenia susceptibilityDominant negativeProtein exhibitCandidate genesChromosome 22q11
2006
Mutation screen of the GAD2 gene and association study of alcoholism in three populations
Lappalainen J, Krupitsky E, Kranzler HR, Luo X, Remizov M, Pchelina S, Taraskina A, Zvartau E, Räsanen P, Makikyro T, Somberg LK, Krystal JH, Stein MB, Gelernter J. Mutation screen of the GAD2 gene and association study of alcoholism in three populations. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2006, 144B: 183-192. PMID: 17034009, DOI: 10.1002/ajmg.b.30377.Peer-Reviewed Original ResearchMeSH KeywordsAdultAlcoholismBlack or African AmericanCase-Control StudiesDNA Mutational AnalysisExonsFemaleGene FrequencyGenetic Predisposition to DiseaseGenetic TestingGlutamate DecarboxylaseHispanic or LatinoHumansIsoenzymesLinkage DisequilibriumMaleMutationPolymorphism, Single NucleotideStudentsUnited StatesWhite PeopleConceptsSingle nucleotide polymorphismsGAD2 geneNon-synonymous polymorphismsAssociation studiesSequence variantsGamma-amino butyric acidGlutamate decarboxylase 2GenesMutation screenNucleotide polymorphismsAdditional populationsMajor enzymeG single nucleotide polymorphismPolymorphismG variantButyric acidPopulationVariantsEnzymeAdditional samplesRoleRussian malesVariationScreenDHPLC
2003
Mutation screen of the glutamate decarboxylase‐67 gene and haplotype association to unipolar depression
Lappalainen J, Sanacora G, Kranzler HR, Malison R, Hibbard ES, Price LH, Krystal J, Gelernter J. Mutation screen of the glutamate decarboxylase‐67 gene and haplotype association to unipolar depression. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2003, 124B: 81-86. PMID: 14681921, DOI: 10.1002/ajmg.b.20055.Peer-Reviewed Original ResearchSynonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor
Duan J, Wainwright MS, Comeron JM, Saitou N, Sanders AR, Gelernter J, Gejman PV. Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor. Human Molecular Genetics 2003, 12: 205-216. PMID: 12554675, DOI: 10.1093/hmg/ddg055.Peer-Reviewed Original ResearchConceptsSynonymous mutationsMRNA stabilitySynonymous variationMolecular population geneticsSynonymous codon usage biasThird codon positionCodon usage biasNovel genetic mechanismGene mapping studiesStructure of proteinsFunctional effectsSynonymous positionsPopulation geneticsSynonymous changesUsage biasCodon positionsDNA sequencesNucleotide sequenceGenetic mechanismsComplex inheritanceNucleotide substitutionsDopamine receptor D2Linkage disequilibriumEuropean American populationFunctional consequences
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
1993
Mutational analysis of candidate genes in psychiatric disorders
Gejman P, Gelernter J. Mutational analysis of candidate genes in psychiatric disorders. American Journal Of Medical Genetics 1993, 48: 184-191. PMID: 8135301, DOI: 10.1002/ajmg.1320480404.Peer-Reviewed Original ResearchConceptsMutational analysisDNA samplesGradient gel electrophoresis (DGGE) techniqueDNA sequencesNucleotide sequenceSequence variationCandidate genesSequence variantsNew sequence variationsChemical cleavageGel electrophoresis techniqueExistence of variationGenetic hypothesisGenesMolecular screeningMutation screeningAffected individualsSequenceElectrophoresis techniqueMutationsCleavageVariationVariants
1990
Gilles de la Tourette Syndrome Is Not Linked to D2-Dopamine Receptor
Gelernter J, Pakstis AJ, Pauls DL, Kurlan R, Gancher ST, Civelli O, Grandy D, Kidd KK. Gilles de la Tourette Syndrome Is Not Linked to D2-Dopamine Receptor. JAMA Psychiatry 1990, 47: 1073-1077. PMID: 1978653, DOI: 10.1001/archpsyc.1990.01810230089014.Peer-Reviewed Original Research