2021
Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor
Webb BD, Evans A, Naidich TP, Bird L, Parikh S, Garcia M, Henderson LB, Millan F, Si Y, Brennand KJ, Hung P, Rucker JC, Wheeler PG, Schadt EE. Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor. Human Mutation 2021, 42: 685-693. PMID: 33783914, PMCID: PMC8162891, DOI: 10.1002/humu.24201.Peer-Reviewed Original ResearchConceptsIntention tremorHead magnetic resonance imagingFunction variantsHypertrophic olivary degenerationCerebellar vermian atrophyMagnetic resonance imagingAtaxia syndromeWhole-exome sequencingVermian atrophyTranscription factor 1Olivary degenerationNervous systemResonance imagingMultiple abnormalitiesFactor 1POU4F1ProbandsSyndromeHypotoniaTremorClass 4De novoIndependent probandsAtrophyNewborns
2014
Roles of Heat Shock Factor 1 in Neuronal Response to Fetal Environmental Risks and Its Relevance to Brain Disorders
Hashimoto-Torii K, Torii M, Fujimoto M, Nakai A, Fatimy R, Mezger V, Ju MJ, Ishii S, Chao SH, Brennand KJ, Gage FH, Rakic P. Roles of Heat Shock Factor 1 in Neuronal Response to Fetal Environmental Risks and Its Relevance to Brain Disorders. Neuron 2014, 82: 560-572. PMID: 24726381, PMCID: PMC4051437, DOI: 10.1016/j.neuron.2014.03.002.Peer-Reviewed Original ResearchConceptsCerebral cortical cellsHuman neural progenitor cellsNeural progenitor cellsHeat shock factor 1Maternal seizuresSeizure susceptibilityPrenatal exposureNeuropsychiatric dysfunctionShock factor 1Neuronal responsesBrain cellsSchizophrenia patientsBrain disordersLate onsetMouse cortexStructural abnormalitiesNeuropsychiatric disordersHSF1 deficiencyExposure of embryosProgenitor cellsSubthreshold levelsFactor 1Induced pluripotent stem cellsEnvironmental insultsCortical cells