2014
Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss
Haraksingh RR, Jahanbani F, Rodriguez-Paris J, Gelernter J, Nadeau KC, Oghalai JS, Schrijver I, Snyder MP. Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss. BMC Genomics 2014, 15: 1155. PMID: 25528277, PMCID: PMC4367882, DOI: 10.1186/1471-2164-15-1155.Peer-Reviewed Original ResearchConceptsHearing lossHereditary hearing lossExome sequencingSensorineural hearing lossType II myosinGenome-wide CNV analysisCase-control cohortNon-syndromic sensorineural hearing lossStrong candidate geneLoss patientsDirect clinical applicationGenetic diversityNovel lociClinical settingCytoskeletal proteinsCandidate genesCandidate lociVariants mappingDistinct familiesChromosome 16Loss phenotypeClinical applicationNovel regionLociCNV analysisPharmacogenetics of naltrexone and disulfiram in alcohol dependent, dually diagnosed veterans
Arias AJ, Gelernter J, Gueorguieva R, Ralevski E, Petrakis IL. Pharmacogenetics of naltrexone and disulfiram in alcohol dependent, dually diagnosed veterans. American Journal On Addictions 2014, 23: 288-293. PMID: 24724887, PMCID: PMC4600600, DOI: 10.1111/j.1521-0391.2014.12102.x.Peer-Reviewed Original ResearchMeSH KeywordsAlcohol DeterrentsAlcoholismDiagnosis, Dual (Psychiatry)DisulfiramDopamine beta-HydroxylaseDrug Therapy, CombinationFemaleGenotypeHeterozygoteHumansMaleMental DisordersMiddle AgedNaltrexoneNarcotic AntagonistsPolymorphism, Single NucleotideReceptors, Opioid, muTreatment OutcomeVeteransWhite PeopleConceptsAllele carriersHeavy drinkingCo-occurring alcohol dependenceT allele carriersAlcohol-dependent subjectsAD treatment responseTreatment of individualsPrimary outcomePharmacogenetic interactionsHigher overall rateTreatment responseAxis INaltrexoneT carriersEuropean-American subjectsOPRM1 rs1799971Favorable responseMore abstinenceAlcohol dependenceDependent subjectsDBH rs1611115DisulfiramGenotyped subjectsAbstinenceLess drinking
2008
Role of Variation in the Serotonin Transporter Protein Gene (SLC6A4) in Trait Disturbances in the Ventral Anterior Cingulate in Bipolar Disorder
Shah MP, Wang F, Kalmar JH, Chepenik LG, Tie K, Pittman B, Jones MM, Constable RT, Gelernter J, Blumberg HP. Role of Variation in the Serotonin Transporter Protein Gene (SLC6A4) in Trait Disturbances in the Ventral Anterior Cingulate in Bipolar Disorder. Neuropsychopharmacology 2008, 34: 1301-1310. PMID: 19037205, PMCID: PMC2826628, DOI: 10.1038/npp.2008.204.Peer-Reviewed Original ResearchConceptsVentral anterior cingulate cortexBipolar disorderFeatures of BDS carriersAnterior cingulate cortexVentral anterior cingulateEvent-related functional magnetic resonanceFunctional magnetic resonanceTransporter promoter polymorphismSerotonergic systemBD subgroupsHealthy comparison participantsBD groupVACC activationHC groupPromoter polymorphismFuture treatmentHealthy individualsAnterior cingulateCingulate cortexNeural systemsFunctional connectivityDysfunctionSerotonin transporter protein geneAmygdala activation