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
2001
Nicotinic agonists stimulate acetylcholine release from mouse interpeduncular nucleus: a function mediated by a different nAChR than dopamine release from striatum
Grady S, Meinerz N, Cao J, Reynolds A, Picciotto M, Changeux J, McIntosh J, Marks M, Collins A. Nicotinic agonists stimulate acetylcholine release from mouse interpeduncular nucleus: a function mediated by a different nAChR than dopamine release from striatum. Journal Of Neurochemistry 2001, 76: 258-268. PMID: 11145999, DOI: 10.1046/j.1471-4159.2001.00019.x.Peer-Reviewed Original ResearchMeSH KeywordsAcetylcholineAlkaloidsAnimalsAzocinesCalciumCholineConotoxinsCorpus StriatumDopamineDose-Response Relationship, DrugFemaleHeterozygoteHomozygoteMaleMesencephalonMiceMice, Inbred C57BLMice, Mutant StrainsNicotinic AgonistsNicotinic AntagonistsPresynaptic TerminalsProtein SubunitsQuinolizinesReceptors, NicotinicSynaptosomesConceptsAgonist-stimulated releaseAcetylcholine releaseInterpeduncular nucleusStriatal synaptosomesDopamine releaseNicotinic agonistsAlpha-conotoxin MIIMouse striatal synaptosomesAlpha-conotoxin AuIBNicotinic acetylcholine receptorsDose-response curveAcetylcholine receptorsExternal calciumDifferent nAChRsDesensitization ratePersistent phaseAgonistsL nicotineSynaptosomesNull mutationSimilar decreaseInhibition curvesMiceReleaseAcetylcholine
1995
Abnormal avoidance learning in mice lacking functional high-affinity nicotine receptor in the brain
Picciotto M, Zoli M, Léna C, Bessis A, Lallemand Y, LeNovère N, Vincent P, Pich E, Brûlet P, Changeux J. Abnormal avoidance learning in mice lacking functional high-affinity nicotine receptor in the brain. Nature 1995, 374: 65-67. PMID: 7870173, DOI: 10.1038/374065a0.Peer-Reviewed Original ResearchConceptsHigh-affinity nicotine receptorsNeuronal nicotinic acetylcholine receptorsBrains of miceΒ2-/- miceNicotinic acetylcholine receptorsThalamic neuronsNicotine applicationFunctional nAChRsNicotine receptorsBrain slicesNicotinic subunitsAbnormal avoidanceAcetylcholine receptorsAspects of behaviorHigh-affinity binding sitesMutant miceElectrophysiological recordingsPassive avoidanceAssociative memoryMiceNicotineNeuronal nicotinic subunitsNon-mutant siblingsBrainReceptors