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 ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdolescentAdultAnimalsBrainCarrier ProteinsCell LineChildChild, PreschoolCodon, NonsenseFemaleForminsHomozygoteHumansInfantMaleMiceMicrocephalyPedigreeConceptsCell 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
2006
The Prototoxin lynx1 Acts on Nicotinic Acetylcholine Receptors to Balance Neuronal Activity and Survival In Vivo
Miwa JM, Stevens TR, King SL, Caldarone BJ, Ibanez-Tallon I, Xiao C, Fitzsimonds RM, Pavlides C, Lester HA, Picciotto MR, Heintz N. The Prototoxin lynx1 Acts on Nicotinic Acetylcholine Receptors to Balance Neuronal Activity and Survival In Vivo. Neuron 2006, 51: 587-600. PMID: 16950157, DOI: 10.1016/j.neuron.2006.07.025.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAge FactorsAnimalsAssociation LearningBrainCell SurvivalExcitatory Amino Acid AgonistsMembrane GlycoproteinsMembrane PotentialsMiceMice, Mutant StrainsMutationNerve DegenerationNeuronsNeuropeptidesNicotineNicotinic AgonistsPatch-Clamp TechniquesReceptors, NicotinicConceptsNicotinic acetylcholine receptorsNull mutant miceMutant miceAcetylcholine receptorsNeuronal activityNull mutationBiological processesLynx1Calcium levelsAgonist sensitivityReceptor desensitizationSynaptic efficacyMutationsAllosteric modulatorsDesensitization kineticsWide arrayNicotineVivoSpecific testsNAChRsMiceReceptorsSurvivalHyperactivationFunction