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
2000
Functional variants at CYP2A6: New genotyping methods, population genetics, and relevance to studies of tobacco dependence
Zabetian C, Gelernter J, Cubells J. Functional variants at CYP2A6: New genotyping methods, population genetics, and relevance to studies of tobacco dependence. American Journal Of Medical Genetics 2000, 96: 638-645. PMID: 11054771, DOI: 10.1002/1096-8628(20001009)96:5<638::aid-ajmg9>3.0.co;2-r.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAryl Hydrocarbon HydroxylasesBase SequenceCytochrome P-450 CYP2A6Cytochrome P-450 Enzyme SystemDNAGene FrequencyGenetic VariationGenetics, PopulationGenotypeHumansMixed Function OxygenasesPolymorphism, GeneticSequence Analysis, DNASequence Homology, Nucleic AcidTobacco Use DisorderConceptsTobacco dependenceMetabolism of nicotineCYP2A6CYP2A6 allelesGenotype resultsNull variantsPopulation studiesLow allele frequenciesRestriction enzyme digestionGenetic association studiesPredominant enzymeFunctional variantsExon 4Future genetic association studiesNew genotyping methodAllele frequenciesEuropean populationsExon 3Population
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