2014
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans
Ercan-Sencicek AG, Jambi S, Franjic D, Nishimura S, Li M, El-Fishawy P, Morgan TM, Sanders SJ, Bilguvar K, Suri M, Johnson MH, Gupta AR, Yuksel Z, Mane S, Grigorenko E, Picciotto M, Alberts AS, Gunel M, Šestan N, State MW. Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. European Journal Of Human Genetics 2014, 23: 165-172. PMID: 24781755, PMCID: PMC4297910, DOI: 10.1038/ejhg.2014.82.Peer-Reviewed Original ResearchConceptsCell divisionFamily-based linkage analysisLinkage analysisRho effector proteinsLinear actin filamentsMaintenance of polarityMitotic cell divisionHigh-throughput sequencingRare genetic variantsHuman neuronal precursor cellsParametric multipoint linkage analysisActivation of GTPNeuronal precursor cellsFormin familyMammalian DiaphanousEffector proteinsMultipoint linkage analysisSpindle formationActin filamentsNonsense alterationWhole-exome sequencingHuman pathologiesNeuroepithelial cellsGenetic variantsHomozygous loss
1998
Acetylcholine receptors containing the β2 subunit are involved in the reinforcing properties of nicotine
Picciotto M, Zoli M, Rimondini R, Léna C, Marubio L, Pich E, Fuxe K, Changeux J. Acetylcholine receptors containing the β2 subunit are involved in the reinforcing properties of nicotine. Nature 1998, 391: 173-177. PMID: 9428762, DOI: 10.1038/34413.Peer-Reviewed Original ResearchMeSH Keywords3,4-Dihydroxyphenylacetic AcidAcetylcholineAnimalsBinding SitesCarrier ProteinsCocaineConditioning, OperantDopamineDopamine Plasma Membrane Transport ProteinsHomovanillic AcidIn Vitro TechniquesMaleMembrane GlycoproteinsMembrane Transport ProteinsMiceMice, Inbred C57BLMice, Inbred DBAMice, KnockoutMicrodialysisMotor ActivityNerve Tissue ProteinsNicotineNucleus AccumbensPatch-Clamp TechniquesReceptors, NicotinicSecond Messenger SystemsSubstantia NigraVentral Tegmental AreaConceptsProperties of nicotineAcetylcholine receptorsVentral striatumΒ2 subunitNeuronal nicotinic acetylcholine receptorsMesencephalic dopaminergic neuronsEffects of nicotineWild-type micePatch-clamp recordingsMesolimbic dopamine systemNicotinic acetylcholine receptorsDrugs of abuseDopaminergic neuronsMesolimbic systemDopamine releaseDopamine systemMutant miceMiceNicotineNeurotransmitter dopamineStriatumReceptorsNeuronsReleaseBrain