2020
Overview of PAX gene family: analysis of human tissue-specific variant expression and involvement in human disease
Thompson B, Davidson EA, Liu W, Nebert DW, Bruford EA, Zhao H, Dermitzakis ET, Thompson DC, Vasiliou V. Overview of PAX gene family: analysis of human tissue-specific variant expression and involvement in human disease. Human Genetics 2020, 140: 381-400. PMID: 32728807, PMCID: PMC7939107, DOI: 10.1007/s00439-020-02212-9.Peer-Reviewed Original ResearchConceptsPax proteinsTranscript variant expressionHuman diseasesFunctional rolePax gene familyMyriad human diseasesPax family membersVariant expressionPotential functional significanceBox genesPax genesGene familyTranscriptional regulationCell identityLineage determinationOrgan developmentTranscription factorsMaster regulatorAdditional speciesCell differentiationDevelopmental diseasesGenomic updateFunctional significanceProteinGenes
2015
Association of the OPRM1 Variant rs1799971 (A118G) with Non-Specific Liability to Substance Dependence in a Collaborative de novo Meta-Analysis of European-Ancestry Cohorts
Schwantes-An TH, Zhang J, Chen LS, Hartz SM, Culverhouse RC, Chen X, Coon H, Frank J, Kamens HM, Konte B, Kovanen L, Latvala A, Legrand LN, Maher BS, Melroy WE, Nelson EC, Reid MW, Robinson JD, Shen PH, Yang BZ, Andrews JA, Aveyard P, Beltcheva O, Brown SA, Cannon DS, Cichon S, Corley RP, Dahmen N, Degenhardt L, Foroud T, Gaebel W, Giegling I, Glatt SJ, Grucza RA, Hardin J, Hartmann AM, Heath AC, Herms S, Hodgkinson CA, Hoffmann P, Hops H, Huizinga D, Ising M, Johnson EO, Johnstone E, Kaneva RP, Kendler KS, Kiefer F, Kranzler HR, Krauter KS, Levran O, Lucae S, Lynskey MT, Maier W, Mann K, Martin NG, Mattheisen M, Montgomery GW, Müller-Myhsok B, Murphy MF, Neale MC, Nikolov MA, Nishita D, Nöthen MM, Nurnberger J, Partonen T, Pergadia ML, Reynolds M, Ridinger M, Rose RJ, Rouvinen-Lagerström N, Scherbaum N, Schmäl C, Soyka M, Stallings MC, Steffens M, Treutlein J, Tsuang M, Wall TL, Wodarz N, Yuferov V, Zill P, Bergen AW, Chen J, Cinciripini PM, Edenberg HJ, Ehringer MA, Ferrell RE, Gelernter J, Goldman D, Hewitt JK, Hopfer CJ, Iacono WG, Kaprio J, Kreek MJ, Kremensky IM, Madden PA, McGue M, Munafò MR, Philibert RA, Rietschel M, Roy A, Rujescu D, Saarikoski ST, Swan GE, Todorov AA, Vanyukov MM, Weiss RB, Bierut LJ, Saccone NL. Association of the OPRM1 Variant rs1799971 (A118G) with Non-Specific Liability to Substance Dependence in a Collaborative de novo Meta-Analysis of European-Ancestry Cohorts. Behavior Genetics 2015, 46: 151-169. PMID: 26392368, PMCID: PMC4752855, DOI: 10.1007/s10519-015-9737-3.Peer-Reviewed Original ResearchConceptsSubstance dependenceModest protective effectDSM-IV alcoholOpioid receptor geneLight smokingProtective effectNicotine dependenceAddiction liabilityDifferent addictive substancesG alleleMeta-analysisCocaine dependenceRs1799971Addictive substancesHuman genetic studiesReceptor genePotential functional significanceEuropean ancestry cohortsOPRM1Substance dependence riskSimilar effectsEuropean ancestry subjectsFunctional significanceAddictive behaviorsRisk
1996
Developmental dissociation of excitability and secretory ability in Aplysia bag cell neurons
Nick T, Moreira J, Kaczmarek L, Carew T, Wayne N. Developmental dissociation of excitability and secretory ability in Aplysia bag cell neurons. Journal Of Neurophysiology 1996, 76: 3351-3359. PMID: 8930278, DOI: 10.1152/jn.1996.76.5.3351.Peer-Reviewed Original ResearchConceptsBag cell neuronsEgg-laying behaviorCell neuronsPotential functional significanceAplysia bag cell neuronsDevelopmental regulationVesicular localizationSecretory vesiclesJuvenile AplysiaPremature expressionImmature neuronsDownstream elementsMature formBody sizeReproductive behaviorImmunoelectron microscopyPotassium channel blocker tetraethylammoniumLarge vesiclesDevelopmental interactionsFunctional significanceBag cell hormonesVesiclesCessation of locomotionMature neuronsElectrical activity
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