2014
Rare Human Nicotinic Acetylcholine Receptor α4 Subunit (CHRNA4) Variants Affect Expression and Function of High-Affinity Nicotinic Acetylcholine Receptors
McClure-Begley TD, Papke RL, Stone KL, Stokes C, Levy AD, Gelernter J, Xie P, Lindstrom J, Picciotto MR. Rare Human Nicotinic Acetylcholine Receptor α4 Subunit (CHRNA4) Variants Affect Expression and Function of High-Affinity Nicotinic Acetylcholine Receptors. Journal Of Pharmacology And Experimental Therapeutics 2014, 348: 410-420. PMID: 24385388, PMCID: PMC3935145, DOI: 10.1124/jpet.113.209767.Peer-Reviewed Original ResearchConceptsNicotinic acetylcholine receptorsRare variantsSingle amino acid substitutionLaevis oocytesAmino acid substitutionsΑ4β2 nAChRsAcetylcholine receptorsIntracellular interactomesHEK-293 cellsX. laevis oocytesProteomic analysisGenetic variationHuman α4β2 nAChRsXenopus laevis oocytesVoltage-clamp electrophysiologyNeuronal nicotinic acetylcholine receptorsHigh-affinity nicotinic acetylcholine receptorsSubcellular distributionAcid substitutionsΑ4 nAChR subunitCohort of smokersEffects of nicotineNAChR subunitsCommon variantsΑ4 nAChR
1990
Human dopamine D1 receptor encoded by an intronless gene on chromosome 5
Sunahara R, Niznik H, Weiner D, Stormann T, Brann M, Kennedy J, Gelernter J, Rozmahel R, Yang Y, Israel Y, Seeman P, O'Dowd B. Human dopamine D1 receptor encoded by an intronless gene on chromosome 5. Nature 1990, 347: 80-83. PMID: 1975640, DOI: 10.1038/347080a0.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsBase SequenceBenzazepinesBrain ChemistryCattleChromosomes, Human, Pair 5Cloning, MolecularGlycosylationHumansIntronsMaleMolecular Sequence DataNucleic Acid HybridizationPhosphorylationPolymorphism, Restriction Fragment LengthRatsRats, Inbred StrainsReceptors, DopamineReceptors, Dopamine D1Restriction MappingRNA, MessengerTissue DistributionTransfectionConceptsD1 receptorsD2 receptorsChromosome 5Adenylyl cyclaseCyclic AMP-dependent proteinHuman dopamine D1 receptorDopamine D1 receptorsHuman D1 receptorD1 receptor geneFamily of receptorsDrug therapyDopamine D1Dopamine D2Intronless genesParkinson's diseasePsychomotor disordersRestriction fragment length polymorphismFragment length polymorphismReceptorsFunctional typesReceptor familyDrug addictionReceptor geneAmino acidsLong arm