Dysregulation of neuron differentiation in an autistic savant with exceptional memory

[1]  Z. Warren,et al.  Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years — Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2016 , 2020, Morbidity and mortality weekly report. Surveillance summaries.

[2]  C. Bagni,et al.  A Synaptic Perspective of Fragile X Syndrome and Autism Spectrum Disorders , 2019, Neuron.

[3]  S. Scherer,et al.  SHANK2 mutations associated with Autism Spectrum Disorder cause hyperconnectivity of human neurons , 2019, Nature Neuroscience.

[4]  A. Munnich,et al.  Mutations in TBR1 gene leads to cortical malformations and intellectual disability. , 2018, European journal of medical genetics.

[5]  Jeffrey D. Mandell,et al.  Neonatal Tbr1 Dosage Controls Cortical Layer 6 Connectivity , 2018, Neuron.

[6]  S. Baron-Cohen,et al.  Savant syndrome has a distinct psychological profile in autism , 2018, Molecular Autism.

[7]  P. Deriziotis,et al.  Functional characterization of TBR1 variants in neurodevelopmental disorder , 2018, Scientific Reports.

[8]  F. Happé.  Why are savant skills and special talents associated with autism? , 2018, World psychiatry : official journal of the World Psychiatric Association.

[9]  Gillian Baird,et al.  Autism spectrum disorder , 2018, The Lancet.

[10]  G. Ungvari,et al.  The prevalence of autism spectrum disorders in China: a comprehensive meta-analysis , 2018, International journal of biological sciences.

[11]  Michelle K. Cahill,et al.  Cellular Phenotypes in Human iPSC-Derived Neurons from a Genetic Model of Autism Spectrum Disorder. , 2017, Cell Reports.

[12]  J. Clayton-Smith,et al.  The TBR1-related autistic-spectrum-disorder phenotype and its clinical spectrum. , 2017, European journal of medical genetics.

[13]  P. Deriziotis,et al.  Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders , 2017, Human mutation.

[14]  Neha U. Keshav,et al.  Autism spectrum disorder: neuropathology and animal models , 2017, Acta Neuropathologica.

[15]  R. Halliwell.  Electrophysiological properties of neurons derived from human stem cells and iNeurons in vitro , 2017, Neurochemistry International.

[16]  S. Mcconnell,et al.  TBR1 regulates autism risk genes in the developing neocortex , 2016, Genome research.

[17]  D. Geschwind,et al.  Altered proliferation and networks in neural cells derived from idiopathic autistic individuals , 2016, Molecular Psychiatry.

[18]  R. Aebersold,et al.  On the Dependency of Cellular Protein Levels on mRNA Abundance , 2016, Cell.

[19]  Christopher S. Poultney,et al.  Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci , 2015, Neuron.

[20]  Y. Hsueh,et al.  T‐Brain‐1 – A Potential Master Regulator in Autism Spectrum Disorders , 2015, Autism research : official journal of the International Society for Autism Research.

[21]  M. Gerstein,et al.  FOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum Disorders , 2015, Cell.

[22]  J. Strande,et al.  Generation of induced pluripotent stem cells from muscular dystrophy patients: efficient integration-free reprogramming of urine derived cells. , 2015, Journal of visualized experiments : JoVE.

[23]  L. Mottron,et al.  Prevalence of Clinically and Empirically Defined Talents and Strengths in Autism , 2014, Journal of autism and developmental disorders.

[24]  Christopher S. Poultney,et al.  Synaptic, transcriptional, and chromatin genes disrupted in autism , 2014, Nature.

[25]  J. Shendure,et al.  De novo TBR1 mutations in sporadic autism disrupt protein functions , 2014, Nature Communications.

[26]  Tzyy-Nan Huang,et al.  Neuronal excitation upregulates Tbr1, a high-confidence risk gene of autism, mediating Grin2b expression in the adult brain , 2014, Front. Cell. Neurosci..

[27]  David W. Nauen,et al.  Synaptic dysregulation in a human iPS cell model of mental disorders , 2014, Nature.

[28]  Chang Soon Choi,et al.  Pax6-Dependent Cortical Glutamatergic Neuronal Differentiation Regulates Autism-Like Behavior in Prenatally Valproic Acid-Exposed Rat Offspring , 2014, Molecular Neurobiology.

[29]  R. Hevner,et al.  The protomap is propagated to cortical plate neurons through an Eomes-dependent intermediate map , 2013, Proceedings of the National Academy of Sciences.

[30]  Bradley P. Coe,et al.  Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders , 2012, Science.

[31]  H. Tse,et al.  Generation of human induced pluripotent stem cells from urine samples , 2012, Nature Protocols.

[32]  C Ecker,et al.  Translational approaches to the biology of Autism: false dawn or a new era? , 2012, Molecular Psychiatry.

[33]  A. Peters,et al.  Homeostatic responses by surviving cortical pyramidal cells in neurodegenerative tauopathy , 2011, Acta Neuropathologica.

[34]  Zohar Mukamel,et al.  Regulation of MET by FOXP2, Genes Implicated in Higher Cognitive Dysfunction and Autism Risk , 2011, The Journal of Neuroscience.

[35]  H. Tse,et al.  Generation of induced pluripotent stem cells from urine. , 2011, Journal of the American Society of Nephrology : JASN.

[36]  C. Scharff,et al.  Knockdown of FoxP2 alters spine density in Area X of the zebra finch , 2010, Genes, brain, and behavior.

[37]  A. Kriegstein,et al.  Neurogenic radial glia in the outer subventricular zone of human neocortex , 2010, Nature.

[38]  Johannes Schwarz,et al.  A Humanized Version of Foxp2 Affects Cortico-Basal Ganglia Circuits in Mice , 2009, Cell.

[39]  M. Rutter,et al.  Savant skills in autism: psychometric approaches and parental reports , 2009, Philosophical Transactions of the Royal Society B: Biological Sciences.

[40]  V. Sheffield,et al.  Pax6 3′ deletion results in aniridia, autism and mental retardation , 2008, Human Genetics.

[41]  T. Ichisaka,et al.  Induction of Pluripotent Stem Cells from Adult Human Fibroblasts by Defined Factors , 2007, Cell.

[42]  R. Hevner,et al.  Pax6 controls cerebral cortical cell number by regulating exit from the cell cycle and specifies cortical cell identity by a cell autonomous mechanism , 2007, Developmental biology.

[43]  M. Götz,et al.  Loss- and gain-of-function analyses reveal targets of Pax6 in the developing mouse telencephalon , 2007, Molecular and Cellular Neuroscience.

[44]  C. Scharff,et al.  An evolutionary perspective on FoxP2: strictly for the birds? , 2005, Current Opinion in Neurobiology.

[45]  Jaime Grutzendler,et al.  Rapid labeling of neuronal populations by ballistic delivery of fluorescent dyes. , 2003, Methods.

[46]  Jianning Wei,et al.  Demonstration of functional coupling between γ-aminobutyric acid (GABA) synthesis and vesicular GABA transport into synaptic vesicles , 2003, Proceedings of the National Academy of Sciences of the United States of America.

[47]  A. Monaco,et al.  Molecular evolution of FOXP2, a gene involved in speech and language , 2002, Nature.

[48]  A. Monaco,et al.  A forkhead-domain gene is mutated in a severe speech and language disorder , 2001, Nature.

[49]  J. Rubenstein,et al.  Tbr1 Regulates Differentiation of the Preplate and Layer 6 , 2001, Neuron.

[50]  J. Lichtman,et al.  Multicolor “DiOlistic” Labeling of the Nervous System Using Lipophilic Dye Combinations , 2000, Neuron.

[51]  D. L. Martin,et al.  Two isoforms of glutamate decarboxylase: why? , 1998, Trends in pharmacological sciences.

[52]  D. Hanahan,et al.  Epilepsy in mice deficient in the 65-kDa isoform of glutamic acid decarboxylase. , 1997, Proceedings of the National Academy of Sciences of the United States of America.

[53]  M. Erlander,et al.  Two genes encode distinct glutamate decarboxylases , 1991, Neuron.

[54]  C. Houser,et al.  Two Forms of the γ‐Aminobutyric Acid Synthetic Enzyme Glutamate Decarboxylase Have Distinct Intraneuronal Distributions and Cofactor Interactions , 1991, Journal of neurochemistry.

[55]  A. Tobin,et al.  Uniqueness and redundancy in GABA production. , 1998, Perspectives on developmental neurobiology.