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Volumn 22, Issue 4, 2016, Pages 345-361

Advancing the understanding of autism disease mechanisms through genetics

Author keywords

[No Author keywords available]

Indexed keywords

2 METHYL 6 (PHENYLETHYNYL)PYRIDINE; ALPHA [AMINO(4 AMINOPHENYLTHIO)METHYLENE] 2 (TRIFLUOROMETHYL)PHENYLACETONITRILE; ARIPIPRAZOLE; BUMETANIDE; CLENBUTEROL; CLIOQUINOL; CLONAZEPAM; FINGOLIMOD; OXYTOCIN; RAPAMYCIN; RISPERIDONE; ROSCOVITINE;

EID: 84962890386     PISSN: 10788956     EISSN: 1546170X     Source Type: Journal    
DOI: 10.1038/nm.4071     Document Type: Review
Times cited : (609)

References (300)
  • 1
    • 55449120805 scopus 로고    scopus 로고
    • Genetic mapping in human disease
    • Altshuler D., Daly M.J., & Lander E.S. Genetic mapping in human disease. Science 322, 881-888 (2008
    • (2008) Science , vol.322 , pp. 881-888
    • Altshuler, D.1    Daly, M.J.2    Lander, E.S.3
  • 2
    • 84904465224 scopus 로고    scopus 로고
    • Genome sequencing identifies major causes of severe intellectual disability
    • Gilissen C., et al. Genome sequencing identifies major causes of severe intellectual disability. Nature 511, 344-347 (2014
    • (2014) Nature , vol.511 , pp. 344-347
    • Gilissen, C.1
  • 3
    • 84918840439 scopus 로고    scopus 로고
    • Clinical exome sequencing for genetic identification of rare Mendelian disorders
    • Lee H., et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. J. Am. Med. Assoc. 312, 1880-1887 (2014
    • (2014) J. Am. Med. Assoc , vol.312 , pp. 1880-1887
    • Lee, H.1
  • 4
    • 80053385384 scopus 로고    scopus 로고
    • Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4
    • Psychiatric GWAS Consortium Bipolar Disorder Working Group
    • Psychiatric GWAS Consortium Bipolar Disorder Working Group. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. Nat. Genet. 43, 977-983 (2011
    • (2011) Nat. Genet , vol.43 , pp. 977-983
  • 5
    • 84888317489 scopus 로고    scopus 로고
    • Meta-analysis of 74,046 individuals identifies 11 new suscep-tibility loci for Alzheimers disease
    • Lambert J.C., et al. Meta-analysis of 74,046 individuals identifies 11 new suscep-tibility loci for Alzheimers disease. Nat. Genet. 45, 1452-1458 (2013
    • (2013) Nat. Genet , vol.45 , pp. 1452-1458
    • Lambert, J.C.1
  • 6
    • 84904804929 scopus 로고    scopus 로고
    • Biological insights from 108 schizophrenia-associated genetic loci
    • Schizophrenia Working Group of the Psychiatric Genomics Consortium
    • Schizophrenia Working Group of the Psychiatric Genomics Consortium. Biological insights from 108 schizophrenia-associated genetic loci. Nature 511, 421-427 (2014
    • (2014) Nature , vol.511 , pp. 421-427
  • 7
    • 67249117049 scopus 로고    scopus 로고
    • Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
    • Hindorff L.A., et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc. Natl. Acad. Sci. USA 106, 9362-9367 (2009
    • (2009) Proc. Natl. Acad. Sci. USA , vol.106 , pp. 9362-9367
    • Hindorff, L.A.1
  • 8
    • 54549086639 scopus 로고    scopus 로고
    • Autism: Many genes common pathways
    • Geschwind D.H. Autism: many genes, common pathways Cell 135, 391-395 (2008
    • (2008) Cell , vol.135 , pp. 391-395
    • Geschwind, D.H.1
  • 9
    • 80051920294 scopus 로고    scopus 로고
    • Genetics of autism spectrum disorders
    • Geschwind D.H. Genetics of autism spectrum disorders. Trends Cogn. Sci. 15, 409-416 (2011
    • (2011) Trends Cogn. Sci , vol.15 , pp. 409-416
    • Geschwind, D.H.1
  • 11
    • 33846921789 scopus 로고    scopus 로고
    • Autism spectrum disorders: Developmental disconnec-tion syndromes
    • Geschwind D.H., & Levitt P. Autism spectrum disorders: developmental disconnec-tion syndromes. Curr. Opin. Neurobiol. 17, 103-111 (2007
    • (2007) Curr. Opin. Neurobiol , vol.17 , pp. 103-111
    • Geschwind, D.H.1    Levitt, P.2
  • 12
    • 0003472502 scopus 로고    scopus 로고
    • American Psychiatric Association 5th edn. American Psychiatric Association Arlington, Viginia, USA
    • American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders: DSM-5 5th edn. (American Psychiatric Association, Arlington, Viginia, USA, 2013
    • (2013) Diagnostic and Statistical Manual of Mental Disorders: DSM-5
  • 13
    • 84898957499 scopus 로고    scopus 로고
    • Prevalence of autism spectrum disorder among children aged 8 years-autism and developmental disabilities monitoring network, 11 sites, United States 2010
    • Autism and Developmental Disabilities Monitoring Network Surveillance Year 2010 Principal Investigators
    • Autism and Developmental Disabilities Monitoring Network Surveillance Year 2010 Principal Investigators. Prevalence of autism spectrum disorder among children aged 8 years-Autism and Developmental Disabilities Monitoring Network, 11 sites, United States, 2010. MMWR Surveill. Summ. 63, 1-21 (2014
    • (2014) MMWR Surveill. Summ , vol.63 , pp. 1-21
  • 14
    • 84875500886 scopus 로고    scopus 로고
    • Understanding sex bias in autism spectrum disor-der
    • Werling D.M., & Geschwind D.H. Understanding sex bias in autism spectrum disor-der. Proc. Natl. Acad. Sci. USA 110, 4868-4869 (2013
    • (2013) Proc. Natl. Acad. Sci. USA , vol.110 , pp. 4868-4869
    • Werling, D.M.1    Geschwind, D.H.2
  • 16
    • 67650732715 scopus 로고    scopus 로고
    • Advances in autism
    • Geschwind D.H. Advances in autism. Annu. Rev. Med. 60, 367-380 (2009
    • (2009) Annu. Rev. Med , vol.60 , pp. 367-380
    • Geschwind, D.H.1
  • 17
    • 84897376397 scopus 로고    scopus 로고
    • From kanner to dsm-5: Autism as an evolving diagnostic concept
    • Volkmar F.R., & McPartland J.C. From Kanner to DSM-5: autism as an evolving diagnostic concept. Annu. Rev. Clin. Psychol. 10, 193-212 (2014
    • (2014) Annu. Rev. Clin. Psychol , vol.10 , pp. 193-212
    • Volkmar, F.R.1    McPartland, J.C.2
  • 18
    • 84944146721 scopus 로고    scopus 로고
    • Gene hunting in autism spectrum disorder: On the path to precision medicine
    • Geschwind D.H., & State M.W. Gene hunting in autism spectrum disorder: on the path to precision medicine. Lancet Neurol. 14, 1109-1120 (2015
    • (2015) Lancet Neurol , vol.14 , pp. 1109-1120
    • Geschwind, D.H.1    State, M.W.2
  • 19
    • 84922773682 scopus 로고    scopus 로고
    • Autism treatment in the first year of life: A pilot study of infant start, a parent-implemented intervention for symptomatic infants
    • Rogers S.J., et al. Autism treatment in the first year of life: a pilot study of infant start, a parent-implemented intervention for symptomatic infants. J. Autism Dev. Disord. 44, 2981-2995 (2014
    • (2014) J. Autism Dev. Disord , vol.44 , pp. 2981-2995
    • Rogers, S.J.1
  • 20
    • 84920274247 scopus 로고    scopus 로고
    • Psychosocial treatments for indi-viduals with autism spectrum disorder across the lifespan: New developments and underlying mechanisms
    • Kasari C., Shire S., Factor R., & McCracken C. Psychosocial treatments for indi-viduals with autism spectrum disorder across the lifespan: new developments and underlying mechanisms. Curr. Psychiatry Rep. 16, 512 (2014
    • (2014) Curr. Psychiatry Rep , vol.16 , pp. 512
    • Kasari, C.1    Shire, S.2    Factor, R.3    McCracken, C.4
  • 21
    • 84890551041 scopus 로고    scopus 로고
    • Attention to eyes is present but in decline in 2-to 6-month-old infants later diagnosed with autism
    • Jones W., & Klin A. Attention to eyes is present but in decline in 2-to 6-month-old infants later diagnosed with autism. Nature 504, 427-431 (2013
    • (2013) Nature , vol.504 , pp. 427-431
    • Jones, W.1    Klin, A.2
  • 22
    • 84926299213 scopus 로고    scopus 로고
    • Electrophysiological biomarkers of diagnosis and outcome in neurodevelopmental disorders
    • Jeste S.S., Frohlich J., & Loo S.K. Electrophysiological biomarkers of diagnosis and outcome in neurodevelopmental disorders. Curr. Opin. Neurol. 28, 110-116 (2015
    • (2015) Curr. Opin. Neurol , vol.28 , pp. 110-116
    • Jeste, S.S.1    Frohlich, J.2    Loo, S.K.3
  • 24
    • 79955030459 scopus 로고    scopus 로고
    • Autism spectrum disorders-a genetics review
    • Miles J.H. Autism spectrum disorders-a genetics review. Genet. Med. 13, 278-294 (2011
    • (2011) Genet. Med , vol.13 , pp. 278-294
    • Miles, J.H.1
  • 25
    • 79952313620 scopus 로고    scopus 로고
    • Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting
    • Betancur C. Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res. 1380, 42-77 (2011
    • (2011) Brain Res , vol.1380 , pp. 42-77
    • Betancur, C.1
  • 27
    • 0017337957 scopus 로고
    • Genetic influences and infantile autism
    • Folstein S., & Rutter M. Genetic influences and infantile autism. Nature 265, 726-728 (1977
    • (1977) Nature , vol.265 , pp. 726-728
    • Folstein, S.1    Rutter, M.2
  • 28
    • 80051944739 scopus 로고    scopus 로고
    • Genetic heritability and shared environmental factors among twin pairs with autism
    • Hallmayer J., et al. Genetic heritability and shared environmental factors among twin pairs with autism. Arch. Gen. Psychiatry 68, 1095-1102 (2011
    • (2011) Arch. Gen. Psychiatry , vol.68 , pp. 1095-1102
    • Hallmayer, J.1
  • 29
    • 84899784475 scopus 로고    scopus 로고
    • The familial risk of autism
    • Sandin S., et al. The familial risk of autism. J. Am. Med. Assoc. 311, 1770-1777 (2014
    • (2014) J. Am. Med. Assoc , vol.311 , pp. 1770-1777
    • Sandin, S.1
  • 30
    • 0028906338 scopus 로고
    • Autism as a strongly genetic disorder: Evidence from a British twin study
    • Bailey A., et al. Autism as a strongly genetic disorder: evidence from a British twin study. Psychol. Med. 25, 63-77 (1995
    • (1995) Psychol. Med , vol.25 , pp. 63-77
    • Bailey, A.1
  • 31
    • 78349293844 scopus 로고    scopus 로고
    • The genet-ics of autism spectrum disorders and related neuropsychiatric disorders in childhood
    • Lichtenstein P., Carlström E., Råstam M., Gillberg C., & Anckarsäter H. The genet-ics of autism spectrum disorders and related neuropsychiatric disorders in childhood. Am. J. Psychiatry 167, 1357-1363 (2010
    • (2010) Am. J. Psychiatry , vol.167 , pp. 1357-1363
    • Lichtenstein, P.1    Carlström, E.2    Råstam, M.3    Gillberg, C.4    Anckarsäter, H.5
  • 32
    • 79952597943 scopus 로고    scopus 로고
    • Autism spectrum disorders and autistic traits: A decade of new twin studies
    • Ronald A., & Hoekstra R.A. Autism spectrum disorders and autistic traits: a decade of new twin studies. Am. J. Med. Genet. B. Neuropsychiatr. Genet. 156B, 255-274 (2011
    • (2011) Am. J. Med. Genet. B. Neuropsychiatr. Genet , vol.156 , pp. 255-274
    • Ronald, A.1    Hoekstra, R.A.2
  • 33
    • 34247481814 scopus 로고    scopus 로고
    • Strong association of de novo copy-number mutations with autism
    • Sebat J., et al. Strong association of de novo copy-number mutations with autism. Science 316, 445-449 (2007
    • (2007) Science , vol.316 , pp. 445-449
    • Sebat, J.1
  • 34
    • 33847327313 scopus 로고    scopus 로고
    • Mapping autism risk loci using genetic linkage and chromosomal rearrangements
    • Szatmari P., et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat. Genet. 39, 319-328 (2007
    • (2007) Nat. Genet , vol.39 , pp. 319-328
    • Szatmari, P.1
  • 35
    • 40749089626 scopus 로고    scopus 로고
    • Structural variation of chromosomes in autism spectrum disorder
    • Marshall C.R., et al. Structural variation of chromosomes in autism spectrum disorder. Am. J. Hum. Genet. 82, 477-488 (2008
    • (2008) Am. J. Hum. Genet , vol.82 , pp. 477-488
    • Marshall, C.R.1
  • 36
    • 67651233780 scopus 로고    scopus 로고
    • Genome-wide analyses of exonic copy-number variants in a family-based study point to novel autism susceptibility genes
    • Bucan M., et al. Genome-wide analyses of exonic copy-number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet. 5, e1000536 (2009
    • (2009) Plos Genet , vol.5 , pp. e1000536
    • Bucan, M.1
  • 37
    • 67349182343 scopus 로고    scopus 로고
    • Autism genome-wide copy-number variation reveals ubiquitin and neuronal genes
    • Glessner J.T., et al. Autism genome-wide copy-number variation reveals ubiquitin and neuronal genes. Nature 459, 569-573 (2009
    • (2009) Nature , vol.459 , pp. 569-573
    • Glessner, J.T.1
  • 38
    • 78649264297 scopus 로고    scopus 로고
    • De novo rates and selection of large copy-number variation
    • Itsara A., et al. De novo rates and selection of large copy-number variation. Genome Res. 20, 1469-1481 (2010
    • (2010) Genome Res , vol.20 , pp. 1469-1481
    • Itsara, A.1
  • 39
    • 77954657070 scopus 로고    scopus 로고
    • Functional impact of global, rare copy-number variation in autism spectrum disorders
    • Pinto D., et al. Functional impact of global, rare copy-number variation in autism spectrum disorders. Nature 466, 368-372 (2010
    • (2010) Nature , vol.466 , pp. 368-372
    • Pinto, D.1
  • 40
    • 79958032110 scopus 로고    scopus 로고
    • Rare de novo and transmitted copy-number variation in autistic spec-trum disorders
    • Levy D., et al. Rare de novo and transmitted copy-number variation in autistic spec-trum disorders. Neuron 70, 886-897 (2011
    • (2011) Neuron , vol.70 , pp. 886-897
    • Levy, D.1
  • 41
    • 84864506652 scopus 로고    scopus 로고
    • Evaluation of copy-number variations reveals novel candidate genes in autism spectrum disorder-associated pathways
    • Griswold A.J., et al. Evaluation of copy-number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. Hum. Mol. Genet. 21, 3513-3523 (2012
    • (2012) Hum. Mol. Genet , vol.21 , pp. 3513-3523
    • Griswold, A.J.1
  • 42
    • 84860712363 scopus 로고    scopus 로고
    • Patterns and rates of exonic de novo mutations in autism spectrum disorders
    • Neale B.M., et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 485, 242-245 (2012
    • (2012) Nature , vol.485 , pp. 242-245
    • Neale, B.M.1
  • 43
    • 84912144889 scopus 로고    scopus 로고
    • Synaptic, transcriptional and chromatin genes disrupted in autism
    • De Rubeis S., et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature 515, 209-215 (2014
    • (2014) Nature , vol.515 , pp. 209-215
    • De Rubeis, S.1
  • 44
    • 84912101541 scopus 로고    scopus 로고
    • The contribution of de novo coding mutations to autism spectrum disorder
    • Iossifov I., et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature 515, 216-221 (2014
    • (2014) Nature , vol.515 , pp. 216-221
    • Iossifov, I.1
  • 45
    • 84860297457 scopus 로고    scopus 로고
    • De novo gene disruptions in children on the autistic spectrum
    • Iossifov I., et al. De novo gene disruptions in children on the autistic spectrum. Neuron 74, 285-299 (2012
    • (2012) Neuron , vol.74 , pp. 285-299
    • Iossifov, I.1
  • 46
    • 84860741138 scopus 로고    scopus 로고
    • Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
    • ORoak B.J., et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 485, 246-250 (2012
    • (2012) Nature , vol.485 , pp. 246-250
    • ORoak, B.J.1
  • 47
    • 84860780495 scopus 로고    scopus 로고
    • De novo mutations revealed by whole-exome sequencing are strongly associated with autism
    • Sanders S.J., et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 485, 237-241 (2012
    • (2012) Nature , vol.485 , pp. 237-241
    • Sanders, S.J.1
  • 48
    • 79958035893 scopus 로고    scopus 로고
    • Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses
    • Gilman S.R., et al. Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses. Neuron 70, 898-907 (2011
    • (2011) Neuron , vol.70 , pp. 898-907
    • Gilman, S.R.1
  • 49
    • 79958074870 scopus 로고    scopus 로고
    • Multiple recurrent de novo CNVs including duplications of the 7q11.23 Williams syndrome region are strongly associated with autism
    • Sanders S.J., et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 70, 863-885 (2011
    • (2011) Neuron , vol.70 , pp. 863-885
    • Sanders, S.J.1
  • 50
    • 84874634237 scopus 로고    scopus 로고
    • Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease
    • Gratten J., Visscher P.M., Mowry B.J., & Wray N.R. Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease. Nat. Genet. 45, 234-238 (2013
    • (2013) Nat. Genet , vol.45 , pp. 234-238
    • Gratten, J.1    Visscher, P.M.2    Mowry, B.J.3    Wray, N.R.4
  • 51
    • 84871448593 scopus 로고    scopus 로고
    • Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
    • ORoak B.J., et al. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science 338, 1619-1622 (2012
    • (2012) Science , vol.338 , pp. 1619-1622
    • ORoak, B.J.1
  • 52
    • 47249088331 scopus 로고    scopus 로고
    • Identifying autism loci and genes by tracing recent shared ances-try
    • Morrow E.M., et al. Identifying autism loci and genes by tracing recent shared ances-try. Science 321, 218-223 (2008
    • (2008) Science , vol.321 , pp. 218-223
    • Morrow, E.M.1
  • 53
    • 33645415686 scopus 로고    scopus 로고
    • Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
    • Strauss K.A., et al. Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. N. Engl. J. Med. 354, 1370-1377 (2006
    • (2006) N. Engl. J. Med , vol.354 , pp. 1370-1377
    • Strauss, K.A.1
  • 54
    • 84872722295 scopus 로고    scopus 로고
    • Rare complete knockouts in humans: Population distribution and significant role in autism spectrum disorders
    • Lim E.T., et al. Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron 77, 235-242 (2013
    • (2013) Neuron , vol.77 , pp. 235-242
    • Lim, E.T.1
  • 55
    • 84872696957 scopus 로고    scopus 로고
    • Using whole-exome sequencing to identify inherited causes of autism
    • Yu T.W., et al. Using whole-exome sequencing to identify inherited causes of autism. Neuron 77, 259-273 (2013
    • (2013) Neuron , vol.77 , pp. 259-273
    • Yu, T.W.1
  • 56
    • 84862777863 scopus 로고    scopus 로고
    • Estimating the proportion of variation in susceptibility to schizophre-nia, captured by common SNPs
    • Lee S.H., et al. Estimating the proportion of variation in susceptibility to schizophre-nia, captured by common SNPs. Nat. Genet. 44, 247-250 (2012
    • (2012) Nat. Genet , vol.44 , pp. 247-250
    • Lee, S.H.1
  • 57
    • 84905582433 scopus 로고    scopus 로고
    • Most genetic risk for autism resides with common variation
    • Gaugler T., et al. Most genetic risk for autism resides with common variation. Nat. Genet. 46, 881-885 (2014
    • (2014) Nat. Genet , vol.46 , pp. 881-885
    • Gaugler, T.1
  • 58
    • 84923946495 scopus 로고    scopus 로고
    • LD score regression distinguishes confounding from poly-genicity in genome-wide association studies
    • Bulik-Sullivan B.K., et al. LD score regression distinguishes confounding from poly-genicity in genome-wide association studies. Nat. Genet. 47, 291-295 (2015
    • (2015) Nat. Genet , vol.47 , pp. 291-295
    • Bulik-Sullivan, B.K.1
  • 59
    • 84925936969 scopus 로고    scopus 로고
    • Quantitative genetics of disease traits
    • Wray N.R., & Visscher P.M. Quantitative genetics of disease traits. J. Anim. Breed. Genet. 132, 198-203 (2015
    • (2015) J. Anim. Breed. Genet , vol.132 , pp. 198-203
    • Wray, N.R.1    Visscher, P.M.2
  • 60
    • 79957589237 scopus 로고    scopus 로고
    • Exome sequencing in sporadic autism spectrum disorders identi-fies severe de novo mutations
    • Oroak B.J., et al. Exome sequencing in sporadic autism spectrum disorders identi-fies severe de novo mutations. Nat. Genet. 43, 585-589 (2011
    • (2011) Nat. Genet , vol.43 , pp. 585-589
    • Oroak, B.J.1
  • 61
    • 80051674258 scopus 로고    scopus 로고
    • Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders
    • Schaaf C.P., et al. Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. Hum. Mol. Genet. 20, 3366-3375 (2011
    • (2011) Hum. Mol. Genet , vol.20 , pp. 3366-3375
    • Schaaf, C.P.1
  • 62
    • 34547886497 scopus 로고    scopus 로고
    • A unified genetic theory for sporadic and inherited autism
    • Zhao X., et al. A unified genetic theory for sporadic and inherited autism. Proc. Natl. Acad. Sci. USA 104, 12831-12836 (2007
    • (2007) Proc. Natl. Acad. Sci. USA , vol.104 , pp. 12831-12836
    • Zhao, X.1
  • 63
    • 84892799819 scopus 로고    scopus 로고
    • The role of de novo mutations in the genetics of autism spectrum disorders
    • Ronemus M., Iossifov I., Levy D., & Wigler M. The role of de novo mutations in the genetics of autism spectrum disorders. Nat. Rev. Genet. 15, 133-141 (2014
    • (2014) Nat. Rev. Genet , vol.15 , pp. 133-141
    • Ronemus, M.1    Iossifov, I.2    Levy, D.3    Wigler, M.4
  • 65
    • 84905836979 scopus 로고    scopus 로고
    • Parental social responsiveness and risk of autism spectrum disorder in offspring
    • Lyall K., et al. Parental social responsiveness and risk of autism spectrum disorder in offspring. JAMA Psychiatry 71, 936-942 (2014
    • (2014) JAMA Psychiatry , vol.71 , pp. 936-942
    • Lyall, K.1
  • 66
    • 84923872518 scopus 로고    scopus 로고
    • Social responsiveness, an autism endophenotype: Genome-wide significant linkage to two regions on chromosome 8
    • Lowe J.K., Werling D.M., Constantino J.N., Cantor R.M., & Geschwind D.H. Social responsiveness, an autism endophenotype: genome-wide significant linkage to two regions on chromosome 8. Am. J. Psychiatry 172, 266-275 (2015
    • (2015) Am. J. Psychiatry , vol.172 , pp. 266-275
    • Lowe, J.K.1    Werling, D.M.2    Constantino, J.N.3    Cantor, R.M.4    Geschwind, D.H.5
  • 67
    • 84883465830 scopus 로고    scopus 로고
    • Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
    • Lee S.H., et al. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat. Genet. 45, 984-994 (2013
    • (2013) Nat. Genet , vol.45 , pp. 984-994
    • Lee, S.H.1
  • 68
    • 84871298155 scopus 로고    scopus 로고
    • Common genetic variants, acting additively, are a major source of risk for autism
    • Klei L., et al. Common genetic variants, acting additively, are a major source of risk for autism. Mol. Autism 3, 9 (2012
    • (2012) Mol. Autism , vol.3 , pp. 9
    • Klei, L.1
  • 69
    • 84925130699 scopus 로고    scopus 로고
    • Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder and major depressive disorder
    • Maier R., et al. Joint analysis of psychiatric disorders increases accuracy of risk prediction for schizophrenia, bipolar disorder and major depressive disorder. Am. J. Hum. Genet. 96, 283-294 (2015
    • (2015) Am. J. Hum. Genet , vol.96 , pp. 283-294
    • Maier, R.1
  • 70
    • 84867829870 scopus 로고    scopus 로고
    • Individual common variants exert weak effects on the risk for autism spectrum disorders
    • Anney R., et al. Individual common variants exert weak effects on the risk for autism spectrum disorders. Hum. Mol. Genet. 21, 4781-4792 (2012
    • (2012) Hum. Mol. Genet , vol.21 , pp. 4781-4792
    • Anney, R.1
  • 71
    • 84901608878 scopus 로고    scopus 로고
    • Large-scale genomics unveils the genetic architecture of psychiatric disorders
    • Gratten J., Wray N.R., Keller M.C., & Visscher P.M. Large-scale genomics unveils the genetic architecture of psychiatric disorders. Nat. Neurosci. 17, 782-790 (2014
    • (2014) Nat. Neurosci , vol.17 , pp. 782-790
    • Gratten, J.1    Wray, N.R.2    Keller, M.C.3    Visscher, P.M.4
  • 72
    • 84942279459 scopus 로고    scopus 로고
    • Genetics and genomics of psychiatric disease
    • Geschwind D.H., & Flint J. Genetics and genomics of psychiatric disease. Science 349, 1489-1494 (2015
    • (2015) Science , vol.349 , pp. 1489-1494
    • Geschwind, D.H.1    Flint, J.2
  • 73
    • 84930082024 scopus 로고    scopus 로고
    • Excess of rare, inherited truncating mutations in autism
    • Krumm N., et al. Excess of rare, inherited truncating mutations in autism. Nat. Genet. 47, 582-588 (2015
    • (2015) Nat. Genet , vol.47 , pp. 582-588
    • Krumm, N.1
  • 74
    • 84899918742 scopus 로고    scopus 로고
    • Convergence of genes and cellular pathways dysregulated in autism spectrum disorders
    • Pinto D., et al. Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am. J. Hum. Genet. 94, 677-694 (2014
    • (2014) Am. J. Hum. Genet , vol.94 , pp. 677-694
    • Pinto, D.1
  • 75
    • 84888587567 scopus 로고    scopus 로고
    • Estimation and partition of heritability in human populations using whole-genome analysis meth-ods
    • Vinkhuyzen A.A., Wray N.R., Yang J., Goddard M.E., & Visscher P.M. Estimation and partition of heritability in human populations using whole-genome analysis meth-ods. Annu. Rev. Genet. 47, 75-95 (2013
    • (2013) Annu. Rev. Genet , vol.47 , pp. 75-95
    • Vinkhuyzen, A.A.1    Wray, N.R.2    Yang, J.3    Goddard, M.E.4    Visscher, P.M.5
  • 76
    • 84898786106 scopus 로고    scopus 로고
    • Statistical power and significance testing in large-scale genetic studies
    • Sham P.C., & Purcell S.M. Statistical power and significance testing in large-scale genetic studies. Nat. Rev. Genet. 15, 335-346 (2014
    • (2014) Nat. Rev. Genet , vol.15 , pp. 335-346
    • Sham, P.C.1    Purcell, S.M.2
  • 77
    • 84896829795 scopus 로고    scopus 로고
    • A genotype-first approach to defining the subtypes of a complex disease
    • Stessman H.A., Bernier R., & Eichler E.E. A genotype-first approach to defining the subtypes of a complex disease. Cell 156, 872-877 (2014
    • (2014) Cell , vol.156 , pp. 872-877
    • Stessman, H.A.1    Bernier, R.2    Eichler, E.E.3
  • 78
    • 84944356467 scopus 로고    scopus 로고
    • Dyrk1a haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment and distinct facies
    • Ji J., et al. DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment and distinct facies. Eur. J. Hum. Genet. 23, 1473-1481 (2015
    • (2015) Eur. J. Hum. Genet , vol.23 , pp. 1473-1481
    • Ji, J.1
  • 79
    • 84944351589 scopus 로고    scopus 로고
    • Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in dyrk1a
    • Bronicki L.M., et al. Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. Eur. J. Hum. Genet. 23, 1482-1487 (2015
    • (2015) Eur. J. Hum. Genet , vol.23 , pp. 1482-1487
    • Bronicki, L.M.1
  • 80
    • 84904635209 scopus 로고    scopus 로고
    • Disruptive CHD8 mutations define a subtype of autism early in development
    • Bernier R., et al. Disruptive CHD8 mutations define a subtype of autism early in development. Cell 158, 263-276 (2014
    • (2014) Cell , vol.158 , pp. 263-276
    • Bernier, R.1
  • 81
    • 84922261705 scopus 로고    scopus 로고
    • Schizophrenia or schizophrenias the challenge of genetic parsing of a complex disorder
    • Jablensky A. Schizophrenia or schizophrenias The challenge of genetic parsing of a complex disorder. Am. J. Psychiatry 172, 105-107 (2015
    • (2015) Am. J. Psychiatry , vol.172 , pp. 105-107
    • Jablensky, A.1
  • 82
    • 84897115312 scopus 로고    scopus 로고
    • Predicting the diagnosis of autism spectrum disorder using gene pathway analysis
    • Skafidas E., et al. Predicting the diagnosis of autism spectrum disorder using gene pathway analysis. Mol. Psychiatry 19, 504-510 (2014
    • (2014) Mol. Psychiatry , vol.19 , pp. 504-510
    • Skafidas, E.1
  • 83
    • 84922263888 scopus 로고    scopus 로고
    • Uncovering the hidden risk architecture of the schizophrenias: Con-firmation in three independent genome-wide association studies
    • Arnedo J., et al. Uncovering the hidden risk architecture of the schizophrenias: con-firmation in three independent genome-wide association studies. Am. J. Psychiatry 172, 139-153 (2015
    • (2015) Am. J. Psychiatry , vol.172 , pp. 139-153
    • Arnedo, J.1
  • 84
    • 84905055662 scopus 로고    scopus 로고
    • Response to predicting the diagnosis of autism spectrum disorder using gene pathway analysis
    • Robinson E.B., et al. Response to Predicting the diagnosis of autism spectrum disorder using gene pathway analysis. Mol. Psychiatry 19, 859-861 (2014
    • (2014) Mol. Psychiatry , vol.19 , pp. 859-861
    • Robinson, E.B.1
  • 86
    • 84879628427 scopus 로고    scopus 로고
    • Network topologies and convergent etiologies arising from deletions and duplications observed in individuals with autism
    • Noh H.J., et al. Network topologies and convergent etiologies arising from deletions and duplications observed in individuals with autism. PLoS Genet. 9, e1003523 (2013
    • (2013) Plos Genet , vol.9 , pp. e1003523
    • Noh, H.J.1
  • 87
    • 84889583293 scopus 로고    scopus 로고
    • Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism
    • Willsey A.J., et al. Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. Cell 155, 997-1007 (2013
    • (2013) Cell , vol.155 , pp. 997-1007
    • Willsey, A.J.1
  • 88
    • 84889561601 scopus 로고    scopus 로고
    • Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism
    • Parikshak N.N., et al. Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism. Cell 155, 1008-1021 (2013
    • (2013) Cell , vol.155 , pp. 1008-1021
    • Parikshak, N.N.1
  • 89
    • 79959262465 scopus 로고    scopus 로고
    • Transcriptomic analysis of autistic brain reveals convergent molecu-lar pathology
    • Voineagu I., et al. Transcriptomic analysis of autistic brain reveals convergent molecu-lar pathology. Nature 474, 380-384 (2011
    • (2011) Nature , vol.474 , pp. 380-384
    • Voineagu, I.1
  • 90
    • 42349095075 scopus 로고    scopus 로고
    • Advances in autism genetics: On the threshold of a new neurobiology
    • Abrahams B.S., & Geschwind D.H. Advances in autism genetics: on the threshold of a new neurobiology. Nat. Rev. Genet. 9, 341-355 (2008
    • (2008) Nat. Rev. Genet , vol.9 , pp. 341-355
    • Abrahams, B.S.1    Geschwind, D.H.2
  • 92
    • 79958260092 scopus 로고    scopus 로고
    • The human brain in a dish: The promise of iPSC-derived neurons
    • Dolmetsch R., & Geschwind D.H. The human brain in a dish: the promise of iPSC-derived neurons. Cell 145, 831-834 (2011
    • (2011) Cell , vol.145 , pp. 831-834
    • Dolmetsch, R.1    Geschwind, D.H.2
  • 93
  • 94
    • 84880140895 scopus 로고    scopus 로고
    • Of mice and monkeys: Using nonhuman primate models to bridge mouse-and human-based investigations of autism spectrum disorders
    • Watson K.K., & Platt M.L. Of mice and monkeys: using nonhuman primate models to bridge mouse-and human-based investigations of autism spectrum disorders. J. Neurodev. Disord. 4, 21 (2012
    • (2012) J. Neurodev. Disord , vol.4 , pp. 21
    • Watson, K.K.1    Platt, M.L.2
  • 95
    • 84940647911 scopus 로고    scopus 로고
    • Addressing the genetics of human mental health disor-ders in model organisms
    • McCammon J.M., & Sive H. Addressing the genetics of human mental health disor-ders in model organisms. Annu. Rev. Genomics Hum. Genet. 16, 173-197 (2015
    • (2015) Annu. Rev. Genomics Hum. Genet , vol.16 , pp. 173-197
    • McCammon, J.M.1    Sive, H.2
  • 96
    • 84927922272 scopus 로고    scopus 로고
    • Alteration in basal and depolarization-induced transcriptional network in iPSC-derived neurons from Timothy syndrome
    • Tian Y., et al. Alteration in basal and depolarization-induced transcriptional network in iPSC-derived neurons from Timothy syndrome. Genome Med. 6, 75 (2014
    • (2014) Genome Med , vol.6 , pp. 75
    • Tian, Y.1
  • 97
    • 84866390941 scopus 로고    scopus 로고
    • RBFOX1 regulates both splicing and transcriptional networks in human neuronal development
    • Fogel B.L., et al. RBFOX1 regulates both splicing and transcriptional networks in human neuronal development. Hum. Mol. Genet. 21, 4171-4186 (2012
    • (2012) Hum. Mol. Genet , vol.21 , pp. 4171-4186
    • Fogel, B.L.1
  • 98
    • 84908065133 scopus 로고    scopus 로고
    • CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors
    • Sugathan A., et al. CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors. Proc. Natl. Acad. Sci. USA 111, E4468-E4477 (2014
    • (2014) Proc. Natl. Acad. Sci. USA , vol.111 , pp. E4468-E4477
    • Sugathan, A.1
  • 99
    • 84856088804 scopus 로고    scopus 로고
    • Using iPSC-derived neurons to uncover cellular phenotypes associ-ated with Timothy syndrome
    • Paşca S.P., et al. Using iPSC-derived neurons to uncover cellular phenotypes associ-ated with Timothy syndrome. Nat. Med. 17, 1657-1662 (2011
    • (2011) Nat. Med , vol.17 , pp. 1657-1662
    • Paşca, S.P.1
  • 100
    • 78149488365 scopus 로고    scopus 로고
    • A model for neural development and treatment of Rett syn-drome using human induced pluripotent stem cells
    • Marchetto M.C., et al. A model for neural development and treatment of Rett syn-drome using human induced pluripotent stem cells. Cell 143, 527-539 (2010
    • (2010) Cell , vol.143 , pp. 527-539
    • Marchetto, M.C.1
  • 101
    • 84885107449 scopus 로고    scopus 로고
    • Global transcriptional and translational repression in human embryonic stem cell-derived Rett syndrome neurons
    • Li Y., et al. Global transcriptional and translational repression in human embryonic stem cell-derived Rett syndrome neurons. Cell Stem Cell 13, 446-458 (2013
    • (2013) Cell Stem Cell , vol.13 , pp. 446-458
    • Li, Y.1
  • 102
    • 84887627330 scopus 로고    scopus 로고
    • Shank3 and igf1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients
    • Shcheglovitov A., et al. SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients. Nature 503, 267-271 (2013
    • (2013) Nature , vol.503 , pp. 267-271
    • Shcheglovitov, A.1
  • 103
    • 84937212591 scopus 로고    scopus 로고
    • FOXG1-dependent dysregulation of GABA-glutamate neuron dif-ferentiation in autism spectrum disorders
    • Mariani J., et al. FOXG1-dependent dysregulation of GABA-glutamate neuron dif-ferentiation in autism spectrum disorders. Cell 162, 375-390 (2015
    • (2015) Cell , vol.162 , pp. 375-390
    • Mariani, J.1
  • 104
    • 33747763643 scopus 로고    scopus 로고
    • Minicolumnar abnormalities in autism
    • Casanova M.F., et al. Minicolumnar abnormalities in autism. Acta Neuropathol. 112, 287-303 (2006
    • (2006) Acta Neuropathol , vol.112 , pp. 287-303
    • Casanova, M.F.1
  • 105
    • 84896918827 scopus 로고    scopus 로고
    • Patches of disorganization in the neocortex of children with autism
    • Stoner R., et al. Patches of disorganization in the neocortex of children with autism. N. Engl. J. Med. 370, 1209-1219 (2014
    • (2014) N. Engl. J. Med , vol.370 , pp. 1209-1219
    • Stoner, R.1
  • 106
    • 21344460723 scopus 로고    scopus 로고
    • When is the brain enlarged in autism A meta-analysis of all brain size reports
    • Redcay E., & Courchesne E. When is the brain enlarged in autism A meta-analysis of all brain size reports. Biol. Psychiatry 58, 1-9 (2005
    • (2005) Biol. Psychiatry , vol.58 , pp. 1-9
    • Redcay, E.1    Courchesne, E.2
  • 107
    • 80755141303 scopus 로고    scopus 로고
    • Sustained activation of mTOR pathway in embryonic neural stem cells leads to development of tuberous sclerosis complex-associated lesions
    • Magri L., et al. Sustained activation of mTOR pathway in embryonic neural stem cells leads to development of tuberous sclerosis complex-associated lesions. Cell Stem Cell 9, 447-462 (2011
    • (2011) Cell Stem Cell , vol.9 , pp. 447-462
    • Magri, L.1
  • 108
    • 84924192318 scopus 로고    scopus 로고
    • FMRP regulates multipolar to bipolar transition affecting neuronal migration and cortical circuitry
    • La Fata G., et al. FMRP regulates multipolar to bipolar transition affecting neuronal migration and cortical circuitry. Nat. Neurosci. 17, 1693-1700 (2014
    • (2014) Nat. Neurosci , vol.17 , pp. 1693-1700
    • La Fata, G.1
  • 109
    • 80053540965 scopus 로고    scopus 로고
    • Absence of cntnap2 leads to epilepsy, neuronal migration abnormalities and core autism-related deficits
    • Peñagarikano O., et al. Absence of Cntnap2 leads to epilepsy, neuronal migration abnormalities and core autism-related deficits. Cell 147, 235-246 (2011
    • (2011) Cell , vol.147 , pp. 235-246
    • Peñagarikano, O.1
  • 110
    • 84884498837 scopus 로고    scopus 로고
    • The chromatin remodeler CHD7 regulates adult neurogenesis via activation of SoxC transcription factors
    • Feng W., et al. The chromatin remodeler CHD7 regulates adult neurogenesis via activation of SoxC transcription factors. Cell Stem Cell 13, 62-72 (2013
    • (2013) Cell Stem Cell , vol.13 , pp. 62-72
    • Feng, W.1
  • 111
    • 80051495791 scopus 로고    scopus 로고
    • Tsc1-mutant neural stem and progenitor cells exhibit migration defi-cits and give rise to subependymal lesions in the lateral ventricle
    • Zhou J., et al. Tsc1-mutant neural stem and progenitor cells exhibit migration defi-cits and give rise to subependymal lesions in the lateral ventricle. Genes Dev. 25, 1595-1600 (2011
    • (2011) Genes Dev , vol.25 , pp. 1595-1600
    • Zhou, J.1
  • 113
    • 84908232014 scopus 로고    scopus 로고
    • The neurology of mTOR
    • Lipton J.O., & Sahin M. The neurology of mTOR. Neuron 84, 275-291 (2014
    • (2014) Neuron , vol.84 , pp. 275-291
    • Lipton, J.O.1    Sahin, M.2
  • 114
    • 33646142995 scopus 로고    scopus 로고
    • Pten regulates neuronal arborization and social interaction in mice
    • Kwon C.H., et al. Pten regulates neuronal arborization and social interaction in mice. Neuron 50, 377-388 (2006
    • (2006) Neuron , vol.50 , pp. 377-388
    • Kwon, C.H.1
  • 115
    • 84893708713 scopus 로고    scopus 로고
    • A de novo convergence of autism genetics and molecular neuroscience
    • Krumm N., Oroak B.J., Shendure J., & Eichler E.E. A de novo convergence of autism genetics and molecular neuroscience. Trends Neurosci. 37, 95-105 (2014
    • (2014) Trends Neurosci , vol.37 , pp. 95-105
    • Krumm, N.1    Ooak, B.J.2    Shendure, J.3    Eichler, E.E.4
  • 116
    • 79956202464 scopus 로고    scopus 로고
    • Deriving excitatory neurons of the neocortex from pluripotent stem cells
    • Hansen D.V., Rubenstein J.L., & Kriegstein A.R. Deriving excitatory neurons of the neocortex from pluripotent stem cells. Neuron 70, 645-660 (2011
    • (2011) Neuron , vol.70 , pp. 645-660
    • Hansen, D.V.1    Rubenstein, J.L.2    Kriegstein, A.R.3
  • 117
    • 84861814859 scopus 로고    scopus 로고
    • Cortical neurogenesis and mor-phogens: Diversity of cues, sources and functions
    • Tiberi L., Vanderhaeghen P., & van den Ameele J. Cortical neurogenesis and mor-phogens: diversity of cues, sources and functions. Curr. Opin. Cell Biol. 24, 269-276 (2012
    • (2012) Curr. Opin. Cell Biol , vol.24 , pp. 269-276
    • Tiberi, L.1    Vanderhaeghen, P.2    Van Den Ameele, J.3
  • 118
    • 0030866899 scopus 로고    scopus 로고
    • Social interaction and sensorimotor-gating abnormalities in mice lacking Dvl1
    • Lijam N., et al. Social interaction and sensorimotor-gating abnormalities in mice lacking Dvl1. Cell 90, 895-905 (1997
    • (1997) Cell , vol.90 , pp. 895-905
    • Lijam, N.1
  • 119
    • 84884674613 scopus 로고    scopus 로고
    • Disruption of the noncanonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction
    • Sowers L.P., et al. Disruption of the noncanonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction. Mol. Psychiatry 18, 1077-1089 (2013
    • (2013) Mol. Psychiatry , vol.18 , pp. 1077-1089
    • Sowers, L.P.1
  • 120
    • 84915783802 scopus 로고    scopus 로고
    • Overproduction of upper-layer neurons in the neocortex leads to autism-like features in mice
    • Fang W.Q., et al. Overproduction of upper-layer neurons in the neocortex leads to autism-like features in mice. Cell Reports 9, 1635-1643 (2014
    • (2014) Cell Reports , vol.9 , pp. 1635-1643
    • Fang, W.Q.1
  • 121
    • 0742271177 scopus 로고    scopus 로고
    • Expanded characterization of the social-interaction abnormalities in mice lacking Dvl1
    • Long J.M., LaPorte P., Paylor R., & Wynshaw-Boris A. Expanded characterization of the social-interaction abnormalities in mice lacking Dvl1. Genes Brain Behav. 3, 51-62 (2004
    • (2004) Genes Brain Behav , vol.3 , pp. 51-62
    • Long, J.M.1    LaPorte, P.2    Paylor, R.3    Wynshaw-Boris, A.4
  • 122
    • 77955642202 scopus 로고    scopus 로고
    • Tbr1 regulates regional and laminar identity of postmitotic neurons in developing neocortex
    • Bedogni F., et al. Tbr1 regulates regional and laminar identity of postmitotic neurons in developing neocortex. Proc. Natl. Acad. Sci. USA 107, 13129-13134 (2010
    • (2010) Proc. Natl. Acad. Sci. USA , vol.107 , pp. 13129-13134
    • Bedogni, F.1
  • 123
    • 0034693158 scopus 로고    scopus 로고
    • A novel b-catenin-binding protein inhibits b-catenin-dependent Tcf activation and axis formation
    • Sakamoto I., et al. A novel b-catenin-binding protein inhibits b-catenin-dependent Tcf activation and axis formation. J. Biol. Chem. 275, 32871-32878 (2000
    • (2000) J. Biol. Chem , vol.275 , pp. 32871-32878
    • Sakamoto, I.1
  • 125
    • 77954244593 scopus 로고    scopus 로고
    • Human POGZ modulates dissociation of HP1-a from mitotic chromosome arms through Aurora B activation
    • Nozawa R.S., et al. Human POGZ modulates dissociation of HP1-a from mitotic chromosome arms through Aurora B activation. Nat. Cell Biol. 12, 719-727 (2010
    • (2010) Nat. Cell Biol , vol.12 , pp. 719-727
    • Nozawa, R.S.1
  • 126
    • 84892814234 scopus 로고    scopus 로고
    • Chromatin modifiers and remodelers: Regulators of cellular differentiation
    • Chen T., & Dent S.Y. Chromatin modifiers and remodelers: regulators of cellular differentiation. Nat. Rev. Genet. 15, 93-106 (2014
    • (2014) Nat. Rev. Genet , vol.15 , pp. 93-106
    • Chen, T.1    Dent, S.Y.2
  • 127
    • 84876686460 scopus 로고    scopus 로고
    • From neural development to cognition: Unex-pected roles for chromatin
    • Ronan J.L., Wu W., & Crabtree G.R. From neural development to cognition: unex-pected roles for chromatin. Nat. Rev. Genet. 14, 347-359 (2013
    • (2013) Nat. Rev. Genet , vol.14 , pp. 347-359
    • Ronan, J.L.1    Wu, W.2    Crabtree, G.R.3
  • 128
    • 17744398634 scopus 로고    scopus 로고
    • Tbr1 regulates differentiation of the preplate and layer 6
    • Hevner R.F., et al. Tbr1 regulates differentiation of the preplate and layer 6. Neuron 29, 353-366 (2001
    • (2001) Neuron , vol.29 , pp. 353-366
    • Hevner, R.F.1
  • 129
    • 33644763022 scopus 로고    scopus 로고
    • The APC tumor suppressor coun-teracts b-catenin activation and H3K4 methylation at Wnt target genes
    • Sierra J., Yoshida T., Joazeiro C.A., & Jones K.A. The APC tumor suppressor coun-teracts b-catenin activation and H3K4 methylation at Wnt target genes. Genes Dev. 20, 586-600 (2006
    • (2006) Genes Dev , vol.20 , pp. 586-600
    • Sierra, J.1    Yoshida, T.2    Joazeiro, C.A.3    Jones, K.A.4
  • 130
    • 84903574160 scopus 로고    scopus 로고
    • A quantitative framework to evaluate modeling of cortical develop-ment by neural stem cells
    • Stein J.L., et al. A quantitative framework to evaluate modeling of cortical develop-ment by neural stem cells. Neuron 83, 69-86 (2014
    • (2014) Neuron , vol.83 , pp. 69-86
    • Stein, J.L.1
  • 131
    • 84900303453 scopus 로고    scopus 로고
    • Transcriptional landscape of the prenatal human brain
    • Miller J.A., et al. Transcriptional landscape of the prenatal human brain. Nature 508, 199-206 (2014
    • (2014) Nature , vol.508 , pp. 199-206
    • Miller, J.A.1
  • 132
    • 84877806968 scopus 로고    scopus 로고
    • Chromatin regulation by BAF170 controls cerebral cortical size and thickness
    • Tuoc T.C., et al. Chromatin regulation by BAF170 controls cerebral cortical size and thickness. Dev. Cell 25, 256-269 (2013
    • (2013) Dev. Cell , vol.25 , pp. 256-269
    • Tuoc, T.C.1
  • 133
    • 84924567722 scopus 로고    scopus 로고
    • The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment
    • Cotney J., et al. The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment. Nat. Commun. 6, 6404 (2015
    • (2015) Nat. Commun , vol.6 , pp. 6404
    • Cotney, J.1
  • 134
    • 84856803144 scopus 로고    scopus 로고
    • Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-b-catenin signaling pathway
    • Nishiyama M., Skoultchi A.I., & Nakayama K.I. Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-b-catenin signaling pathway. Mol. Cell. Biol. 32, 501-512 (2012
    • (2012) Mol. Cell. Biol , vol.32 , pp. 501-512
    • Nishiyama, M.1    Skoultchi, A.I.2    Nakayama, K.I.3
  • 135
    • 84855829221 scopus 로고    scopus 로고
    • Rare deletions at the neurexin 3 locus in autism spectrum disorder
    • Vaags A.K., et al. Rare deletions at the neurexin 3 locus in autism spectrum disorder. Am. J. Hum. Genet. 90, 133-141 (2012
    • (2012) Am. J. Hum. Genet , vol.90 , pp. 133-141
    • Vaags, A.K.1
  • 136
    • 80054860297 scopus 로고    scopus 로고
    • Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia
    • Gauthier J., et al. Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. Hum. Genet. 130, 563-573 (2011
    • (2011) Hum. Genet , vol.130 , pp. 563-573
    • Gauthier, J.1
  • 137
    • 0037656313 scopus 로고    scopus 로고
    • Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
    • Jamain S., et al. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat. Genet. 34, 27-29 (2003
    • (2003) Nat. Genet , vol.34 , pp. 27-29
    • Jamain, S.1
  • 138
    • 77952827032 scopus 로고    scopus 로고
    • Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
    • Berkel S., et al. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nat. Genet. 42, 489-491 (2010
    • (2010) Nat. Genet , vol.42 , pp. 489-491
    • Berkel, S.1
  • 139
    • 33845889998 scopus 로고    scopus 로고
    • Mutations in the gene encoding the synaptic scaffolding protein shank3 are associated with autism spectrum disorders
    • Durand C.M., et al. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat. Genet. 39, 25-27 (2007
    • (2007) Nat. Genet , vol.39 , pp. 25-27
    • Durand, C.M.1
  • 140
    • 84879418540 scopus 로고    scopus 로고
    • Analysis of the effects of rare variants on splicing identifies altera-tions in GABAA receptor genes in autism spectrum disorder individuals
    • Piton A., et al. Analysis of the effects of rare variants on splicing identifies altera-tions in GABAA receptor genes in autism spectrum disorder individuals. Eur. J. Hum. Genet. 21, 749-756 (2013
    • (2013) Eur. J. Hum. Genet , vol.21 , pp. 749-756
    • Piton, A.1
  • 141
    • 84877010942 scopus 로고    scopus 로고
    • Rare exonic deletions implicate the synaptic organizer gephy-rin (GPHN) in risk for autism, schizophrenia and seizures
    • Lionel A.C., et al. Rare exonic deletions implicate the synaptic organizer gephy-rin (GPHN) in risk for autism, schizophrenia and seizures. Hum. Mol. Genet. 22, 2055-2066 (2013
    • (2013) Hum. Mol. Genet , vol.22 , pp. 2055-2066
    • Lionel, A.C.1
  • 142
    • 79957456437 scopus 로고    scopus 로고
    • SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function
    • Fassio A., et al. SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. Hum. Mol. Genet. 20, 2297-2307 (2011
    • (2011) Hum. Mol. Genet , vol.20 , pp. 2297-2307
    • Fassio, A.1
  • 143
    • 84890350967 scopus 로고    scopus 로고
    • SYN2 is an autism predisposing gene: Loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth
    • Corradi A., et al. SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth. Hum. Mol. Genet. 23, 90-103 (2014
    • (2014) Hum. Mol. Genet , vol.23 , pp. 90-103
    • Corradi, A.1
  • 144
    • 84907987626 scopus 로고    scopus 로고
    • Loss of mTOR-dependent macroautophagy causes autistic-like synaptic pruning deficits
    • Tang G., et al. Loss of mTOR-dependent macroautophagy causes autistic-like synaptic pruning deficits. Neuron 83, 1131-1143 (2014
    • (2014) Neuron , vol.83 , pp. 1131-1143
    • Tang, G.1
  • 145
    • 72049108920 scopus 로고    scopus 로고
    • Increased dendritic spine densities on cortical projection neurons in autism spectrum disorders
    • Hutsler J.J., & Zhang H. Increased dendritic spine densities on cortical projection neurons in autism spectrum disorders. Brain Res. 1309, 83-94 (2010
    • (2010) Brain Res , vol.1309 , pp. 83-94
    • Hutsler, J.J.1    Zhang, H.2
  • 146
    • 0035755097 scopus 로고    scopus 로고
    • Density and distribution of hippocampal neurotransmitter receptors in autism: An autoradiographic study
    • Blatt G.J., et al. Density and distribution of hippocampal neurotransmitter receptors in autism: an autoradiographic study. J. Autism Dev. Disord. 31, 537-543 (2001
    • (2001) J. Autism Dev. Disord , vol.31 , pp. 537-543
    • Blatt, G.J.1
  • 147
    • 70349313390 scopus 로고    scopus 로고
    • Decreased GABAA receptors and benzodiazepine-binding sites in the anterior cingulate cortex in autism
    • Oblak A., Gibbs T.T., & Blatt G.J. Decreased GABAA receptors and benzodiazepine-binding sites in the anterior cingulate cortex in autism. Autism Res. 2, 205-219 (2009
    • (2009) Autism Res , vol.2 , pp. 205-219
    • Oblak, A.1    Gibbs, T.T.2    Blatt, G.J.3
  • 148
    • 77955170379 scopus 로고    scopus 로고
    • Decreased GABAB receptors in the cingulate cortex and fusiform gyrus in autism
    • Oblak A.L., Gibbs T.T., & Blatt G.J. Decreased GABAB receptors in the cingulate cortex and fusiform gyrus in autism. J. Neurochem. 114, 1414-1423 (2010
    • (2010) J. Neurochem , vol.114 , pp. 1414-1423
    • Oblak, A.L.1    Gibbs, T.T.2    Blatt, G.J.3
  • 149
    • 77955883112 scopus 로고    scopus 로고
    • mRNA and protein levels for GABAA-a4, -a5, -b1 and GABABR1 receptors are altered in brains from subjects with autism
    • Fatemi S.H., et al. mRNA and protein levels for GABAA-a4, -a5, -b1 and GABABR1 receptors are altered in brains from subjects with autism. J. Autism Dev. Disord. 40, 743-750 (2010
    • (2010) J. Autism Dev. Disord , vol.40 , pp. 743-750
    • Fatemi, S.H.1
  • 150
    • 38849164392 scopus 로고    scopus 로고
    • Increased GAD67 mRNA expression in cer-ebellar interneurons in autism: Implications for Purkinje cell dysfunction
    • Yip J., Soghomonian J.J., & Blatt G.J. Increased GAD67 mRNA expression in cer-ebellar interneurons in autism: implications for Purkinje cell dysfunction. J. Neurosci. Res. 86, 525-530 (2008
    • (2008) J. Neurosci. Res , vol.86 , pp. 525-530
    • Yip, J.1    Soghomonian, J.J.2    Blatt, G.J.3
  • 151
    • 63449095687 scopus 로고    scopus 로고
    • Decreased GAD65 mRNA levels in select subpopulations of neurons in the cerebellar dentate nuclei in autism: An in situ hybridization study
    • Yip J., Soghomonian J.J., & Blatt G.J. Decreased GAD65 mRNA levels in select subpopulations of neurons in the cerebellar dentate nuclei in autism: an in situ hybridization study. Autism Res. 2, 50-59 (2009
    • (2009) Autism Res , vol.2 , pp. 50-59
    • Yip, J.1    Soghomonian, J.J.2    Blatt, G.J.3
  • 152
    • 34247631067 scopus 로고    scopus 로고
    • Decreased GAD67 mRNA levels in cerebellar Purkinje cells in autism: Pathophysiological implications
    • Yip J., Soghomonian J.J., & Blatt G.J. Decreased GAD67 mRNA levels in cerebellar Purkinje cells in autism: pathophysiological implications. Acta Neuropathol. 113, 559-568 (2007
    • (2007) Acta Neuropathol , vol.113 , pp. 559-568
    • Yip, J.1    Soghomonian, J.J.2    Blatt, G.J.3
  • 153
    • 0037108019 scopus 로고    scopus 로고
    • Glutamic acid decarboxylase 65 and 67 kDa proteins are reduced in autistic parietal and cerebellar cortices
    • Fatemi S.H., et al. Glutamic acid decarboxylase 65 and 67 kDa proteins are reduced in autistic parietal and cerebellar cortices. Biol. Psychiatry 52, 805-810 (2002
    • (2002) Biol. Psychiatry , vol.52 , pp. 805-810
    • Fatemi, S.H.1
  • 154
    • 54049091941 scopus 로고    scopus 로고
    • Neuroligins and neurexins link synaptic function to cognitive disease
    • Südhof T.C. Neuroligins and neurexins link synaptic function to cognitive disease. Nature 455, 903-911 (2008
    • (2008) Nature , vol.455 , pp. 903-911
    • Südhof, T.C.1
  • 155
    • 36549075574 scopus 로고    scopus 로고
    • Synaptic plasticity: Multiple forms, functions and mecha-nisms
    • Citri A., & Malenka R.C. Synaptic plasticity: multiple forms, functions and mecha-nisms. Neuropsychopharmacology 33, 18-41 (2008
    • (2008) Neuropsychopharmacology , vol.33 , pp. 18-41
    • Citri, A.1    Malenka, R.C.2
  • 157
    • 80052563319 scopus 로고    scopus 로고
    • Neocortical excitation-inhibition balance in information processing and social dysfunction
    • Yizhar O., et al. Neocortical excitation-inhibition balance in information processing and social dysfunction. Nature 477, 171-178 (2011
    • (2011) Nature , vol.477 , pp. 171-178
    • Yizhar, O.1
  • 158
    • 34548264782 scopus 로고    scopus 로고
    • Aberrant excitatory neuronal activity and compensatory remodeling of inhibitory hippocampal circuits in mouse models of Alzheimers disease
    • Palop J.J., et al. Aberrant excitatory neuronal activity and compensatory remodeling of inhibitory hippocampal circuits in mouse models of Alzheimers disease. Neuron 55, 697-711 (2007
    • (2007) Neuron , vol.55 , pp. 697-711
    • Palop, J.J.1
  • 159
    • 84890883246 scopus 로고    scopus 로고
    • Epilepsy E/I balance and GABAA receptor plasticity
    • Fritschy J.M. Epilepsy, E/I balance and GABAA receptor plasticity. Front. Mol. Neurosci. 1, 5 (2008
    • (2008) Front. Mol. Neurosci , vol.1 , pp. 5
    • Fritschy, J.M.1
  • 160
    • 67749088757 scopus 로고    scopus 로고
    • Altered excitatory-inhibitory balance in the NMDA-hypofunction model of schizophrenia
    • Kehrer C., Maziashvili N., Dugladze T., & Gloveli T. Altered excitatory-inhibitory balance in the NMDA-hypofunction model of schizophrenia. Front. Mol. Neurosci. 1, 6 (2008
    • (2008) Front. Mol. Neurosci , vol.1 , pp. 6
    • Kehrer, C.1    Maziashvili, N.2    Dugladze, T.3    Gloveli, T.4
  • 161
    • 84920622481 scopus 로고    scopus 로고
    • Age-related decreased inhibitory versus excitatory gene expression in the adult autistic brain
    • Van De Lagemaat L.N., et al. Age-related decreased inhibitory versus excitatory gene expression in the adult autistic brain. Front. Neurosci. 8, 394 (2014
    • (2014) Front. Neurosci , vol.8 , pp. 394
    • Van De Lagemaat, L.N.1
  • 162
    • 84891631547 scopus 로고    scopus 로고
    • Decreased left perisylvian GABA concentration in children with autism and unaffected siblings
    • Rojas D.C., Singel D., Steinmetz S., Hepburn S., & Brown M.S. Decreased left perisylvian GABA concentration in children with autism and unaffected siblings. Neuroimage 86, 28-34 (2014
    • (2014) Neuroimage , vol.86 , pp. 28-34
    • Rojas, D.C.1    Singel, D.2    Steinmetz, S.3    Hepburn, S.4    Brown, M.S.5
  • 163
    • 84864398872 scopus 로고    scopus 로고
    • Elevated glutamatergic compounds in pregenual anterior cingulate in pediatric autism spectrum disorder demonstrated by 1H MRS and 1H MRSI
    • Bejjani A., et al. Elevated glutamatergic compounds in pregenual anterior cingulate in pediatric autism spectrum disorder demonstrated by 1H MRS and 1H MRSI. PLoS One 7, e38786 (2012
    • (2012) Plos One , vol.7 , pp. e38786
    • Bejjani, A.1
  • 164
    • 52049127039 scopus 로고    scopus 로고
    • From synapse to nucleus: Calcium-dependent gene transcription in the control of synapse development and function
    • Greer P.L., & Greenberg M.E. From synapse to nucleus: calcium-dependent gene transcription in the control of synapse development and function. Neuron 59, 846-860 (2008
    • (2008) Neuron , vol.59 , pp. 846-860
    • Greer, P.L.1    Greenberg, M.E.2
  • 165
    • 84904685723 scopus 로고    scopus 로고
    • Translational control in synaptic plasticity and cognitive dysfunction
    • Buffington S.A., Huang W., & Costa-Mattioli M. Translational control in synaptic plasticity and cognitive dysfunction. Annu. Rev. Neurosci. 37, 17-38 (2014
    • (2014) Annu. Rev. Neurosci , vol.37 , pp. 17-38
    • Buffington, S.A.1    Huang, W.2    Costa-Mattioli, M.3
  • 166
    • 0032830639 scopus 로고    scopus 로고
    • Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
    • Amir R.E., et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat. Genet. 23, 185-188 (1999
    • (1999) Nat. Genet , vol.23 , pp. 185-188
    • Amir, R.E.1
  • 167
    • 5344223383 scopus 로고    scopus 로고
    • CaV1.2 calcium channel dysfunction causes a multisystem disorder, including arrhythmia and autism
    • Splawski I., et al. CaV1.2 calcium channel dysfunction causes a multisystem disorder, including arrhythmia and autism. Cell 119, 19-31 (2004
    • (2004) Cell , vol.119 , pp. 19-31
    • Splawski, I.1
  • 168
    • 84872593582 scopus 로고    scopus 로고
    • Activity-dependent neuronal signaling and autism spectrum disorder
    • Ebert D.H., & Greenberg M.E. Activity-dependent neuronal signaling and autism spectrum disorder. Nature 493, 327-337 (2013
    • (2013) Nature , vol.493 , pp. 327-337
    • Ebert, D.H.1    Greenberg, M.E.2
  • 169
    • 0035777024 scopus 로고    scopus 로고
    • Genome organization, function and imprinting in Prader-Willi and Angelman syndromes
    • Nicholls R.D., & Knepper J.L. Genome organization, function and imprinting in Prader-Willi and Angelman syndromes. Annu. Rev. Genomics Hum. Genet. 2, 153-175 (2001
    • (2001) Annu. Rev. Genomics Hum. Genet , vol.2 , pp. 153-175
    • Nicholls, R.D.1    Knepper, J.L.2
  • 170
    • 84893751460 scopus 로고    scopus 로고
    • Tbr1 haploinsufficiency impairs amygdalar axonal projections and results in cognitive abnormality
    • Huang T.N., et al. Tbr1 haploinsufficiency impairs amygdalar axonal projections and results in cognitive abnormality. Nat. Neurosci. 17, 240-247 (2014
    • (2014) Nat. Neurosci , vol.17 , pp. 240-247
    • Huang, T.N.1
  • 171
    • 84907205306 scopus 로고    scopus 로고
    • Neuronal excitation upregulates Tbr1, a high-confidence risk gene of autism, mediating Grin2b expression in the adult brain
    • Chuang H.C., Huang T.N., & Hsueh Y.P. Neuronal excitation upregulates Tbr1, a high-confidence risk gene of autism, mediating Grin2b expression in the adult brain. Front. Cell. Neurosci. 8, 280 (2014
    • (2014) Front. Cell. Neurosci , vol.8 , pp. 280
    • Chuang, H.C.1    Huang, T.N.2    Hsueh, Y.P.3
  • 172
    • 33144467591 scopus 로고    scopus 로고
    • Activity-dependent regulation of MEF2 transcription factors sup-presses excitatory synapse number
    • Flavell S.W., et al. Activity-dependent regulation of MEF2 transcription factors sup-presses excitatory synapse number. Science 311, 1008-1012 (2006
    • (2006) Science , vol.311 , pp. 1008-1012
    • Flavell, S.W.1
  • 173
    • 0242332183 scopus 로고    scopus 로고
    • Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2
    • Chen W.G., et al. Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2. Science 302, 885-889 (2003
    • (2003) Science , vol.302 , pp. 885-889
    • Chen, W.G.1
  • 174
    • 33749590330 scopus 로고    scopus 로고
    • Brain-specific phosphorylation of mecp2 regulates activity-dependent bdnf transcription, dendritic growth and spine maturation
    • Zhou Z., et al. Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth and spine maturation. Neuron 52, 255-269 (2006
    • (2006) Neuron , vol.52 , pp. 255-269
    • Zhou, Z.1
  • 175
    • 84903975689 scopus 로고    scopus 로고
    • Functional recovery with recombinant human IGF1 treatment in a mouse model of Rett Syndrome
    • Castro J., et al. Functional recovery with recombinant human IGF1 treatment in a mouse model of Rett Syndrome. Proc. Natl. Acad. Sci. USA 111, 9941-9946 (2014
    • (2014) Proc. Natl. Acad. Sci. USA , vol.111 , pp. 9941-9946
    • Castro, J.1
  • 176
    • 60549115413 scopus 로고    scopus 로고
    • Partial reversal of Rett syndrome-like symptoms in MeCP2-mutant mice
    • Tropea D., et al. Partial reversal of Rett syndrome-like symptoms in MeCP2-mutant mice. Proc. Natl. Acad. Sci. USA 106, 2029-2034 (2009
    • (2009) Proc. Natl. Acad. Sci. USA , vol.106 , pp. 2029-2034
    • Tropea, D.1
  • 177
    • 84877331677 scopus 로고    scopus 로고
    • Insulin-like growth factor 1 rescues synaptic and motor deficits in a mouse model of autism and developmental delay
    • Bozdagi O., Tavassoli T., & Buxbaum J.D. Insulin-like growth factor 1 rescues synaptic and motor deficits in a mouse model of autism and developmental delay. Mol. Autism 4, 9 (2013
    • (2013) Mol. Autism , vol.4 , pp. 9
    • Bozdagi, O.1    Tavassoli, T.2    Buxbaum, J.D.3
  • 178
    • 15244340082 scopus 로고    scopus 로고
    • Insulin-like growth factor 1 inhibits extracellular signal-regulated kinase to promote neuronal survival via the phosphatidylinositol 3-kinase-protein kinase A-c-Raf pathway
    • Subramaniam S., et al. Insulin-like growth factor 1 inhibits extracellular signal-regulated kinase to promote neuronal survival via the phosphatidylinositol 3-kinase-protein kinase A-c-Raf pathway. J. Neurosci. 25, 2838-2852 (2005
    • (2005) J. Neurosci , vol.25 , pp. 2838-2852
    • Subramaniam, S.1
  • 179
    • 79651475390 scopus 로고    scopus 로고
    • Rapamycin for treating tuberous sclerosis and autism spectrum disorders
    • Ehninger D., & Silva A.J. Rapamycin for treating tuberous sclerosis and autism spectrum disorders. Trends Mol. Med. 17, 78-87 (2011
    • (2011) Trends Mol. Med , vol.17 , pp. 78-87
    • Ehninger, D.1    Silva, A.J.2
  • 180
    • 53849110899 scopus 로고    scopus 로고
    • Fragile X syndrome: Loss of local mRNA regulation alters synaptic development and function
    • Bassell G.J., & Warren S.T. Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function. Neuron 60, 201-214 (2008
    • (2008) Neuron , vol.60 , pp. 201-214
    • Bassell, G.J.1    Warren, S.T.2
  • 181
    • 51549108502 scopus 로고    scopus 로고
    • The fragile X syndrome protein represses activity-dependent transla-tion through CYFIP1, a new 4E-BP
    • Napoli I., et al. The fragile X syndrome protein represses activity-dependent transla-tion through CYFIP1, a new 4E-BP. Cell 134, 1042-1054 (2008
    • (2008) Cell , vol.134 , pp. 1042-1054
    • Napoli, I.1
  • 182
    • 34547731978 scopus 로고    scopus 로고
    • Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways
    • Nishimura Y., et al. Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways. Hum. Mol. Genet. 16, 1682-1698 (2007
    • (2007) Hum. Mol. Genet , vol.16 , pp. 1682-1698
    • Nishimura, Y.1
  • 183
    • 84865508373 scopus 로고    scopus 로고
    • Autistic-like behavior and cerebellar dysfunction in Purkinje cell Tsc1-mutant mice
    • Tsai P.T., et al. Autistic-like behavior and cerebellar dysfunction in Purkinje cell Tsc1-mutant mice. Nature 488, 647-651 (2012
    • (2012) Nature , vol.488 , pp. 647-651
    • Tsai, P.T.1
  • 184
    • 60849109211 scopus 로고    scopus 로고
    • Pharmacological inhibition of mTORC1 suppresses anatomical, cellular and behavioral abnormalities in neural-specific Pten-knockout mice
    • Zhou J., et al. Pharmacological inhibition of mTORC1 suppresses anatomical, cellular and behavioral abnormalities in neural-specific Pten-knockout mice. J. Neurosci. 29, 1773-1783 (2009
    • (2009) J. Neurosci , vol.29 , pp. 1773-1783
    • Zhou, J.1
  • 185
    • 84872595085 scopus 로고    scopus 로고
    • Autism-related deficits via dysregulated eIF4E-dependent trans-lational control
    • Gkogkas C.G., et al. Autism-related deficits via dysregulated eIF4E-dependent trans-lational control. Nature 493, 371-377 (2013
    • (2013) Nature , vol.493 , pp. 371-377
    • Gkogkas, C.G.1
  • 186
    • 84872617263 scopus 로고    scopus 로고
    • Exaggerated translation causes synaptic and behavioral aberrations associated with autism
    • Santini E., et al. Exaggerated translation causes synaptic and behavioral aberrations associated with autism. Nature 493, 411-415 (2013
    • (2013) Nature , vol.493 , pp. 411-415
    • Santini, E.1
  • 187
    • 84949032593 scopus 로고    scopus 로고
    • JAKMIP1, a novel regulator of neuronal translation, modulates synaptic function and autistic-like behaviors in mouse
    • Berg J.M., et al. JAKMIP1, a novel regulator of neuronal translation, modulates synaptic function and autistic-like behaviors in mouse. Neuron 88, 1173-1191 (2015
    • (2015) Neuron , vol.88 , pp. 1173-1191
    • Berg, J.M.1
  • 188
    • 79960779323 scopus 로고    scopus 로고
    • FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism
    • Darnell J.C., et al. FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism. Cell 146, 247-261 (2011
    • (2011) Cell , vol.146 , pp. 247-261
    • Darnell, J.C.1
  • 189
    • 0037188502 scopus 로고    scopus 로고
    • Altered synaptic plasticity in a mouse model of fragile X mental retardation
    • Huber K.M., Gallagher S.M., Warren S.T., & Bear M.F. Altered synaptic plasticity in a mouse model of fragile X mental retardation. Proc. Natl. Acad. Sci. USA 99, 7746-7750 (2002
    • (2002) Proc. Natl. Acad. Sci. USA , vol.99 , pp. 7746-7750
    • Huber, K.M.1    Gallagher, S.M.2    Warren, S.T.3    Bear, M.F.4
  • 190
    • 55849130994 scopus 로고    scopus 로고
    • Communication between the synapse and the nucleus in neuronal development, plasticity and disease
    • Cohen S., & Greenberg M.E. Communication between the synapse and the nucleus in neuronal development, plasticity and disease. Annu. Rev. Cell Dev. Biol. 24, 183-209 (2008
    • (2008) Annu. Rev. Cell Dev. Biol , vol.24 , pp. 183-209
    • Cohen, S.1    Greenberg, M.E.2
  • 191
    • 1842455828 scopus 로고    scopus 로고
    • Neural activity and the dynamics of central nervous system development
    • Hua J.Y., & Smith S.J. Neural activity and the dynamics of central nervous system development. Nat. Neurosci. 7, 327-332 (2004
    • (2004) Nat. Neurosci , vol.7 , pp. 327-332
    • Hua, J.Y.1    Smith, S.J.2
  • 192
    • 84871563278 scopus 로고    scopus 로고
    • Multiple autism-linked genes mediate synapse elimination via proteasomal degradation of a synaptic scaffold PSD-95
    • Tsai N.P., et al. Multiple autism-linked genes mediate synapse elimination via proteasomal degradation of a synaptic scaffold PSD-95. Cell 151, 1581-1594 (2012
    • (2012) Cell , vol.151 , pp. 1581-1594
    • Tsai, N.P.1
  • 193
    • 84902319598 scopus 로고    scopus 로고
    • A role for dendritic mGluR5-mediated local translation of Arc (Arg 3.1) in MEF2-dependent synapse elimination
    • Wilkerson J.R., et al. A role for dendritic mGluR5-mediated local translation of Arc (Arg 3.1) in MEF2-dependent synapse elimination. Cell Rep. 7, 1589-1600 (2014
    • (2014) Cell Rep , vol.7 , pp. 1589-1600
    • Wilkerson, J.R.1
  • 194
    • 77950899212 scopus 로고    scopus 로고
    • Connecting genes to brain in the autism spectrum disorders
    • Abrahams B.S., & Geschwind D.H. Connecting genes to brain in the autism spectrum disorders. Arch. Neurol. 67, 395-399 (2010
    • (2010) Arch. Neurol , vol.67 , pp. 395-399
    • Abrahams, B.S.1    Geschwind, D.H.2
  • 195
    • 84920895959 scopus 로고    scopus 로고
    • Multimodal imaging in autism: An early review of comprehensive neural circuit characterization
    • Yerys B.E., & Herrington J.D. Multimodal imaging in autism: an early review of comprehensive neural circuit characterization. Curr. Psychiatry Rep. 16, 496 (2014
    • (2014) Curr. Psychiatry Rep , vol.16 , pp. 496
    • Yerys, B.E.1    Herrington, J.D.2
  • 196
    • 84907598713 scopus 로고    scopus 로고
    • Elucidating the neurophysiological under-pinnings of autism spectrum disorder: New developments
    • Luckhardt C., Jarczok T.A., & Bender S. Elucidating the neurophysiological under-pinnings of autism spectrum disorder: new developments. J. Neural Transm. 121, 1129-1144 (2014
    • (2014) J. Neural Transm , vol.121 , pp. 1129-1144
    • Luckhardt, C.1    Jarczok, T.A.2    Bender, S.3
  • 197
    • 84944178004 scopus 로고    scopus 로고
    • Neuroimaging in autism spectrum disor-der: Brain structure and function across the lifespan
    • Ecker C., Bookheimer S.Y., & Murphy D.G. Neuroimaging in autism spectrum disor-der: brain structure and function across the lifespan. Lancet Neurol. 14, 1121-1134 (2015
    • (2015) Lancet Neurol , vol.14 , pp. 1121-1134
    • Ecker, C.1    Bookheimer, S.Y.2    Murphy, D.G.3
  • 198
    • 34447281251 scopus 로고    scopus 로고
    • The new neurobiology of autism: Cortex, connectivity and neuronal organization
    • Minshew N.J., & Williams D.L. The new neurobiology of autism: cortex, connectivity and neuronal organization. Arch. Neurol. 64, 945-950 (2007
    • (2007) Arch. Neurol , vol.64 , pp. 945-950
    • Minshew, N.J.1    Williams, D.L.2
  • 199
    • 78049488635 scopus 로고    scopus 로고
    • Changes in prefrontal axons may disrupt the network in autism
    • Zikopoulos B., & Barbas H. Changes in prefrontal axons may disrupt the network in autism. J. Neurosci. 30, 14595-14609 (2010
    • (2010) J. Neurosci , vol.30 , pp. 14595-14609
    • Zikopoulos, B.1    Barbas, H.2
  • 200
    • 80955148934 scopus 로고    scopus 로고
    • Recent advances in understanding the neural bases of autism spectrum disorder
    • McPartland J.C., Coffman M., & Pelphrey K.A. Recent advances in understanding the neural bases of autism spectrum disorder. Curr. Opin. Pediatr. 23, 628-632 (2011
    • (2011) Curr. Opin. Pediatr , vol.23 , pp. 628-632
    • McPartland, J.C.1    Coffman, M.2    Pelphrey, K.A.3
  • 201
    • 84865979545 scopus 로고    scopus 로고
    • Autism-associated promoter variant in MET impacts functional and structural brain networks
    • Rudie J.D., et al. Autism-associated promoter variant in MET impacts functional and structural brain networks. Neuron 75, 904-915 (2012
    • (2012) Neuron , vol.75 , pp. 904-915
    • Rudie, J.D.1
  • 203
    • 82855175124 scopus 로고    scopus 로고
    • Brain connectivity and high functioning autism: A promising path of research that needs refined models, methodological convergence and stronger behavioral links
    • Vissers M.E., Cohen M.X., & Geurts H.M. Brain connectivity and high functioning autism: a promising path of research that needs refined models, methodological convergence and stronger behavioral links. Neurosci. Biobehav. Rev. 36, 604-625 (2012
    • (2012) Neurosci. Biobehav. Rev , vol.36 , pp. 604-625
    • Vissers, M.E.1    Cohen, M.X.2    Geurts, H.M.3
  • 204
    • 84922229342 scopus 로고    scopus 로고
    • Clustering autism: Using neuroanatomical differences in 26 mouse models to gain insight into the heterogeneity
    • Ellegood J., et al. Clustering autism: using neuroanatomical differences in 26 mouse models to gain insight into the heterogeneity. Mol. Psychiatry 20, 118-125 (2015
    • (2015) Mol. Psychiatry , vol.20 , pp. 118-125
    • Ellegood, J.1
  • 205
    • 84938355964 scopus 로고    scopus 로고
    • Cerebellar associative sensory learning defects in five mouse autism models
    • Kloth A.D., et al. Cerebellar associative sensory learning defects in five mouse autism models. eLife 4, e06085 (2015
    • (2015) ELife , vol.4 , pp. e06085
    • Kloth, A.D.1
  • 206
    • 84905495365 scopus 로고    scopus 로고
    • The cerebellum, sensitive periods and autism
    • Wang S.S., Kloth A.D., & Badura A. The cerebellum, sensitive periods and autism. Neuron 83, 518-532 (2014
    • (2014) Neuron , vol.83 , pp. 518-532
    • Wang, S.S.1    Kloth, A.D.2    Badura, A.3
  • 207
    • 1342263138 scopus 로고    scopus 로고
    • The amygdala, social behavior and danger detection
    • Amaral D.G. The amygdala, social behavior and danger detection. Ann. NY Acad. Sci. 1000, 337-347 (2003
    • (2003) Ann. NY Acad. Sci , vol.1000 , pp. 337-347
    • Amaral, D.G.1
  • 208
    • 0033997204 scopus 로고    scopus 로고
    • The amygdala theory of autism
    • Baron-Cohen S., et al. The amygdala theory of autism. Neurosci. Biobehav. Rev. 24, 355-364 (2000
    • (2000) Neurosci. Biobehav. Rev , vol.24 , pp. 355-364
    • Baron-Cohen, S.1
  • 210
    • 79955536349 scopus 로고    scopus 로고
    • Shank3-mutant mice display autistic-like behaviors and striatal dys-function
    • Peça J., et al. Shank3-mutant mice display autistic-like behaviors and striatal dys-function. Nature 472, 437-442 (2011
    • (2011) Nature , vol.472 , pp. 437-442
    • Peça, J.1
  • 211
    • 84904004407 scopus 로고    scopus 로고
    • Autism-associated neuroligin-3 mutations commonly impair striatal circuits to boost repetitive behaviors
    • Rothwell P.E., et al. Autism-associated neuroligin-3 mutations commonly impair striatal circuits to boost repetitive behaviors. Cell 158, 198-212 (2014
    • (2014) Cell , vol.158 , pp. 198-212
    • Rothwell, P.E.1
  • 212
    • 84886996828 scopus 로고    scopus 로고
    • Cortical evolution: Judge the brain by its cover
    • Geschwind D.H., & Rakic P. Cortical evolution: judge the brain by its cover. Neuron 80, 633-647 (2013
    • (2013) Neuron , vol.80 , pp. 633-647
    • Geschwind, D.H.1    Rakic, P.2
  • 213
    • 84938233335 scopus 로고    scopus 로고
    • Saturated reconstruction of a volume of neocortex
    • Kasthuri N., et al. Saturated reconstruction of a volume of neocortex. Cell 162, 648-661 (2015
    • (2015) Cell , vol.162 , pp. 648-661
    • Kasthuri, N.1
  • 214
    • 84896900121 scopus 로고    scopus 로고
    • Neural networks of the mouse neocortex
    • Zingg B., et al. Neural networks of the mouse neocortex. Cell 156, 1096-1111 (2014
    • (2014) Cell , vol.156 , pp. 1096-1111
    • Zingg, B.1
  • 215
    • 84903204587 scopus 로고    scopus 로고
    • Natural neural projection dynamics underlying social behavior
    • Gunaydin L.A., et al. Natural neural projection dynamics underlying social behavior. Cell 157, 1535-1551 (2014
    • (2014) Cell , vol.157 , pp. 1535-1551
    • Gunaydin, L.A.1
  • 216
    • 84928475950 scopus 로고    scopus 로고
    • Oxytocin enables maternal behavior by balancing cortical inhibition
    • Marlin B.J., Mitre M., Damour J.A., Chao M.V., & Froemke R.C. Oxytocin enables maternal behavior by balancing cortical inhibition. Nature 520, 499-504 (2015
    • (2015) Nature , vol.520 , pp. 499-504
    • Marlin, B.J.1    Mitre, M.2    Damour, J.A.3    Chao, M.V.4    Froemke, R.C.5
  • 217
    • 77955684004 scopus 로고    scopus 로고
    • Microglial activation and increased microglial density observed in the dorsolateral prefrontal cortex in autism
    • Morgan J.T., et al. Microglial activation and increased microglial density observed in the dorsolateral prefrontal cortex in autism. Biol. Psychiatry 68, 368-376 (2010
    • (2010) Biol. Psychiatry , vol.68 , pp. 368-376
    • Morgan, J.T.1
  • 218
    • 84871939639 scopus 로고    scopus 로고
    • Microglial activation in young adults with autism spectrum disorder
    • Suzuki K., et al. Microglial activation in young adults with autism spectrum disorder. JAMA Psychiatry 70, 49-58 (2013
    • (2013) JAMA Psychiatry , vol.70 , pp. 49-58
    • Suzuki, K.1
  • 219
    • 84876487228 scopus 로고    scopus 로고
    • Microglia in the cerebral cortex in autism
    • Tetreault N.A., et al. Microglia in the cerebral cortex in autism. J. Autism Dev. Disord. 42, 2569-2584 (2012
    • (2012) J. Autism Dev. Disord , vol.42 , pp. 2569-2584
    • Tetreault, N.A.1
  • 220
    • 11144230769 scopus 로고    scopus 로고
    • Neuroglial activation and neuroinflammation in the brain of patients with autism
    • Vargas D.L., Nascimbene C., Krishnan C., Zimmerman A.W., & Pardo C.A. Neuroglial activation and neuroinflammation in the brain of patients with autism. Ann. Neurol. 57, 67-81 (2005
    • (2005) Ann. Neurol , vol.57 , pp. 67-81
    • Vargas, D.L.1    Nascimbene, C.2    Krishnan, C.3    Zimmerman, A.W.4    Pardo, C.A.5
  • 221
    • 25144495490 scopus 로고    scopus 로고
    • Glial fibrillary acidic protein is elevated in superior frontal, parietal and cerebellar cortices of autistic subjects
    • Laurence J.A., & Fatemi S.H. Glial fibrillary acidic protein is elevated in superior frontal, parietal and cerebellar cortices of autistic subjects. Cerebellum 4, 206-210 (2005
    • (2005) Cerebellum , vol.4 , pp. 206-210
    • Laurence, J.A.1    Fatemi, S.H.2
  • 222
    • 42449143778 scopus 로고    scopus 로고
    • A microscopic study of language-related cortex in autism
    • Lopez-Hurtado E., & Prieto J. A microscopic study of language-related cortex in autism. Am. J. Biochem. Biotechnol. 4, 130-145 (2008
    • (2008) Am. J. Biochem. Biotechnol , vol.4 , pp. 130-145
    • Lopez-Hurtado, E.1    Prieto, J.2
  • 223
    • 84923384915 scopus 로고    scopus 로고
    • Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism
    • Gupta S., et al. Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism. Nat. Commun. 5, 5748 (2014
    • (2014) Nat. Commun , vol.5 , pp. 5748
    • Gupta, S.1
  • 224
    • 80052633284 scopus 로고    scopus 로고
    • Synaptic pruning by microglia is necessary for normal brain development
    • Paolicelli R.C., et al. Synaptic pruning by microglia is necessary for normal brain development. Science 333, 1456-1458 (2011
    • (2011) Science , vol.333 , pp. 1456-1458
    • Paolicelli, R.C.1
  • 225
    • 84896692474 scopus 로고    scopus 로고
    • Deficient neuron-microglia signaling results in impaired functional brain connectivity and social behavior
    • Zhan Y., et al. Deficient neuron-microglia signaling results in impaired functional brain connectivity and social behavior. Nat. Neurosci. 17, 400-406 (2014
    • (2014) Nat. Neurosci , vol.17 , pp. 400-406
    • Zhan, Y.1
  • 226
    • 84890547494 scopus 로고    scopus 로고
    • Astrocytes mediate synapse elimination through MEGF10 and MERTK pathways
    • Chung W.S., et al. Astrocytes mediate synapse elimination through MEGF10 and MERTK pathways. Nature 504, 394-400 (2013
    • (2013) Nature , vol.504 , pp. 394-400
    • Chung, W.S.1
  • 227
    • 84876668625 scopus 로고    scopus 로고
    • Emerging roles of astrocytes in neural circuit development
    • Clarke L.E., & Barres B.A. Emerging roles of astrocytes in neural circuit development. Nat. Rev. Neurosci. 14, 311-321 (2013
    • (2013) Nat. Rev. Neurosci , vol.14 , pp. 311-321
    • Clarke, L.E.1    Barres, B.A.2
  • 228
    • 84861427387 scopus 로고    scopus 로고
    • Microglia sculpt postnatal neural circuits in an activity-and complement-dependent manner
    • Schafer D.P., et al. Microglia sculpt postnatal neural circuits in an activity-and complement-dependent manner. Neuron 74, 691-705 (2012
    • (2012) Neuron , vol.74 , pp. 691-705
    • Schafer, D.P.1
  • 229
    • 44949125523 scopus 로고    scopus 로고
    • Rescue of behavioral phenotype and neuronal protrusion morphol-ogy in Fmr1 KO mice
    • de Vrij F.M., et al. Rescue of behavioral phenotype and neuronal protrusion morphol-ogy in Fmr1 KO mice. Neurobiol. Dis. 31, 127-132 (2008
    • (2008) Neurobiol. Dis , vol.31 , pp. 127-132
    • De Vrij, F.M.1
  • 230
    • 76749128438 scopus 로고    scopus 로고
    • Repetitive self-grooming behavior in the BTBR mouse model of autism is blocked by the mGluR5 antagonist MPEP
    • Silverman J.L., Tolu S.S., Barkan C.L., & Crawley J.N. Repetitive self-grooming behavior in the BTBR mouse model of autism is blocked by the mGluR5 antagonist MPEP. Neuropsychopharmacology 35, 976-989 (2010
    • (2010) Neuropsychopharmacology , vol.35 , pp. 976-989
    • Silverman, J.L.1    Tolu, S.S.2    Barkan, C.L.3    Crawley, J.N.4
  • 231
    • 84923198963 scopus 로고    scopus 로고
    • Contribution of mGluR5 to pathophysiology in a mouse model of human chromosome 16p11.2 microdeletion
    • Tian D., et al. Contribution of mGluR5 to pathophysiology in a mouse model of human chromosome 16p11.2 microdeletion. Nat. Neurosci. 18, 182-184 (2015
    • (2015) Nat. Neurosci , vol.18 , pp. 182-184
    • Tian, D.1
  • 232
    • 84862297282 scopus 로고    scopus 로고
    • Autistic-like social behavior in Shank2-mutant mice improved by restoring NMDA receptor function
    • Won H., et al. Autistic-like social behavior in Shank2-mutant mice improved by restoring NMDA receptor function. Nature 486, 261-265 (2012
    • (2012) Nature , vol.486 , pp. 261-265
    • Won, H.1
  • 233
    • 24344457816 scopus 로고    scopus 로고
    • Suppression of two major fragile X syndrome mouse model phenotypes by the mGluR5 antagonist MPEP
    • Yan Q.J., Rammal M., Tranfaglia M., & Bauchwitz R.P. Suppression of two major fragile X syndrome mouse model phenotypes by the mGluR5 antagonist MPEP. Neuropharmacology 49, 1053-1066 (2005
    • (2005) Neuropharmacology , vol.49 , pp. 1053-1066
    • Yan, Q.J.1    Rammal, M.2    Tranfaglia, M.3    Bauchwitz, R.P.4
  • 234
    • 84887176861 scopus 로고    scopus 로고
    • Balb/c mice treated with d-cycloserine arouse increased social interest in conspecifics
    • Benson A.D., Burket J.A., & Deutsch S.I. Balb/c mice treated with d-cycloserine arouse increased social interest in conspecifics. Brain Res. Bull. 99, 95-99 (2013
    • (2013) Brain Res. Bull , vol.99 , pp. 95-99
    • Benson, A.D.1    Burket, J.A.2    Deutsch, S.I.3
  • 235
    • 76649086962 scopus 로고    scopus 로고
    • Neuroligin-1 deletion results in impaired spatial memory and increased repetitive behavior
    • Blundell J., et al. Neuroligin-1 deletion results in impaired spatial memory and increased repetitive behavior. J. Neurosci. 30, 2115-2129 (2010
    • (2010) J. Neurosci , vol.30 , pp. 2115-2129
    • Blundell, J.1
  • 236
    • 84878804982 scopus 로고    scopus 로고
    • D-cycloserine improves socia-bility in the BTBR T+ Itpr3tf/J mouse model of autism spectrum disorders with altered Ras-Raf-ERK1/2 signaling
    • Burket J.A., Benson A.D., Tang A.H., & Deutsch S.I. d-cycloserine improves socia-bility in the BTBR T+ Itpr3tf/J mouse model of autism spectrum disorders with altered Ras-Raf-ERK1/2 signaling. Brain Res. Bull. 96, 62-70 (2013
    • (2013) Brain Res. Bull , vol.96 , pp. 62-70
    • Burket, J.A.1    Benson, A.D.2    Tang, A.H.3    Deutsch, S.I.4
  • 237
    • 82555196668 scopus 로고    scopus 로고
    • Mutations causing syndromic autism define an axis of synaptic pathophysiology
    • Auerbach B.D., Osterweil E.K., & Bear M.F. Mutations causing syndromic autism define an axis of synaptic pathophysiology. Nature 480, 63-68 (2011
    • (2011) Nature , vol.480 , pp. 63-68
    • Auerbach, B.D.1    Osterweil, E.K.2    Bear, M.F.3
  • 238
    • 84896279364 scopus 로고    scopus 로고
    • Enhancement of inhibitory neurotransmission by GABAA receptors having a2,3-subunits ameliorates behavioral deficits in a mouse model of autism
    • Han S., Tai C., Jones C.J., Scheuer T., & Catterall W.A. Enhancement of inhibitory neurotransmission by GABAA receptors having a2,3-subunits ameliorates behavioral deficits in a mouse model of autism. Neuron 81, 1282-1289 (2014
    • (2014) Neuron , vol.81 , pp. 1282-1289
    • Han, S.1    Tai, C.2    Jones, C.J.3    Scheuer, T.4    Catterall, W.A.5
  • 239
    • 84866500624 scopus 로고    scopus 로고
    • Autistic-like behaviour in Scn1a+/-mice and rescue by enhanced GABA-mediated neurotransmission
    • Han S., et al. Autistic-like behaviour in Scn1a+/-mice and rescue by enhanced GABA-mediated neurotransmission. Nature 489, 385-390 (2012
    • (2012) Nature , vol.489 , pp. 385-390
    • Han, S.1
  • 240
    • 49149088555 scopus 로고    scopus 로고
    • Reversal of learning deficits in a Tsc2+/-mouse model of tuberous sclerosis
    • Ehninger D., et al. Reversal of learning deficits in a Tsc2+/-mouse model of tuberous sclerosis. Nat. Med. 14, 843-848 (2008
    • (2008) Nat. Med , vol.14 , pp. 843-848
    • Ehninger, D.1
  • 241
    • 84940440506 scopus 로고    scopus 로고
    • Increased CYFIP1 dosage alters cellular and dendritic morphol-ogy and dysregulates mTOR
    • Oguro-Ando A., et al. Increased CYFIP1 dosage alters cellular and dendritic morphol-ogy and dysregulates mTOR. Mol. Psychiatry 20, 1069-1078 (2015
    • (2015) Mol. Psychiatry , vol.20 , pp. 1069-1078
    • Oguro-Ando, A.1
  • 242
    • 84863882700 scopus 로고    scopus 로고
    • A role of the mammalian target of rapamycin (mTOR) in glutamate-induced downregulation of tuberous sclerosis complex proteins 2 (TSC2
    • Ru W., Peng Y., Zhong L., & Tang S.J. A role of the mammalian target of rapamycin (mTOR) in glutamate-induced downregulation of tuberous sclerosis complex proteins 2 (TSC2). J. Mol. Neurosci. 47, 340-345 (2012
    • (2012) J. Mol. Neurosci , vol.47 , pp. 340-345
    • Ru, W.1    Peng, Y.2    Zhong, L.3    Tang, S.J.4
  • 243
    • 31444434393 scopus 로고    scopus 로고
    • The disease progression of Mecp2-mutant mice is affected by the level of BDNF expression
    • Chang Q., Khare G., Dani V., Nelson S., & Jaenisch R. The disease progression of Mecp2-mutant mice is affected by the level of BDNF expression. Neuron 49, 341-348 (2006
    • (2006) Neuron , vol.49 , pp. 341-348
    • Chang, Q.1    Khare, G.2    Dani, V.3    Nelson, S.4    Jaenisch, R.5
  • 244
    • 77951014800 scopus 로고    scopus 로고
    • Exogenous brain-derived neuro-trophic factor rescues synaptic dysfunction in mecp2-null mice
    • Kline D.D., Ogier M., Kunze D.L., & Katz D.M. Exogenous brain-derived neuro-trophic factor rescues synaptic dysfunction in Mecp2-null mice. J. Neurosci. 30, 5303-5310 (2010
    • (2010) J. Neurosci , vol.30 , pp. 5303-5310
    • Kline, D.D.1    Ogier, M.2    Kunze, D.L.3    Katz, D.M.4
  • 245
    • 84904012707 scopus 로고    scopus 로고
    • B2-adrenergic receptor agonist ameliorates phenotypes and corrects microRNA-mediated IGF1 deficits in a mouse model of Rett syndrome
    • Mellios N., et al. b2-adrenergic receptor agonist ameliorates phenotypes and corrects microRNA-mediated IGF1 deficits in a mouse model of Rett syndrome. Proc. Natl. Acad. Sci. USA 111, 9947-9952 (2014
    • (2014) Proc. Natl. Acad. Sci. USA , vol.111 , pp. 9947-9952
    • Mellios, N.1
  • 246
    • 84865538160 scopus 로고    scopus 로고
    • Fingolimod, a sphingosine-1 phosphate receptor modulator, increases BDNF levels and improves symptoms of a mouse model of Rett syndrome
    • Deogracias R., et al. Fingolimod, a sphingosine-1 phosphate receptor modulator, increases BDNF levels and improves symptoms of a mouse model of Rett syndrome. Proc. Natl. Acad. Sci. USA 109, 14230-14235 (2012
    • (2012) Proc. Natl. Acad. Sci. USA , vol.109 , pp. 14230-14235
    • Deogracias, R.1
  • 247
    • 67949108378 scopus 로고    scopus 로고
    • Oxytocin and the neural mechanisms regulating social cognition and affiliative behavior
    • Ross H.E., & Young L.J. Oxytocin and the neural mechanisms regulating social cognition and affiliative behavior. Front. Neuroendocrinol. 30, 534-547 (2009
    • (2009) Front. Neuroendocrinol , vol.30 , pp. 534-547
    • Ross, H.E.1    Young, L.J.2
  • 248
    • 77950222543 scopus 로고    scopus 로고
    • The challenge of translation in social neuroscience: A review of oxytocin, vasopressin and affiliative behavior
    • Insel T.R. The challenge of translation in social neuroscience: a review of oxytocin, vasopressin and affiliative behavior. Neuron 65, 768-779 (2010
    • (2010) Neuron , vol.65 , pp. 768-779
    • Insel, T.R.1
  • 249
    • 84921792372 scopus 로고    scopus 로고
    • Exogenous and evoked oxytocin restores social behavior in the cntnap2 mouse model of autism
    • 271ra8
    • Peñagarikano O., et al. Exogenous and evoked oxytocin restores social behavior in the Cntnap2 mouse model of autism. Sci. Transl. Med. 7, 271ra8 (2015
    • (2015) Sci. Transl. Med , vol.7
    • Peñagarikano, O.1
  • 250
    • 79954594363 scopus 로고    scopus 로고
    • Pharmacologic rescue of impaired cognitive flexibility, social deficits, increased aggression and seizure susceptibility in oxytocin receptor-null mice: A neurobehavioral model of autism
    • Sala M., et al. Pharmacologic rescue of impaired cognitive flexibility, social deficits, increased aggression and seizure susceptibility in oxytocin receptor-null mice: a neurobehavioral model of autism. Biol. Psychiatry 69, 875-882 (2011
    • (2011) Biol. Psychiatry , vol.69 , pp. 875-882
    • Sala, M.1
  • 251
    • 84893640636 scopus 로고    scopus 로고
    • Oxytocin-mediated GABA inhibition during delivery attenuates autism pathogenesis in rodent offspring
    • Tyzio R., et al. Oxytocin-mediated GABA inhibition during delivery attenuates autism pathogenesis in rodent offspring. Science 343, 675-679 (2014
    • (2014) Science , vol.343 , pp. 675-679
    • Tyzio, R.1
  • 252
    • 84882857902 scopus 로고    scopus 로고
    • Oxytocin enhances hippocampal spike transmission by modulating fast-spiking interneurons
    • Owen S.F., et al. Oxytocin enhances hippocampal spike transmission by modulating fast-spiking interneurons. Nature 500, 458-462 (2013
    • (2013) Nature , vol.500 , pp. 458-462
    • Owen, S.F.1
  • 253
    • 84894118144 scopus 로고    scopus 로고
    • Microbiota modulate behavioral and physiological abnormalities associated with neurodevelopmental disorders
    • Hsiao E.Y., et al. Microbiota modulate behavioral and physiological abnormalities associated with neurodevelopmental disorders. Cell 155, 1451-1463 (2013
    • (2013) Cell , vol.155 , pp. 1451-1463
    • Hsiao, E.Y.1
  • 254
    • 84877003420 scopus 로고    scopus 로고
    • Absence of deficits in social behaviors and ultrasonic vocalizations in later generations of mice lacking neuroligin 4-like
    • Ey E., et al. Absence of deficits in social behaviors and ultrasonic vocalizations in later generations of mice lacking neuroligin 4-like. Genes Brain Behav. 11, 928-941 (2012
    • (2012) Genes Brain Behav , vol.11 , pp. 928-941
    • Ey, E.1
  • 255
    • 33748981282 scopus 로고    scopus 로고
    • Fmr1 KO mice as a possible model of autistic features
    • Bernardet M., & Crusio W.E. Fmr1 KO mice as a possible model of autistic features. ScientificWorldJournal 6, 1164-1176 (2006
    • (2006) ScientificWorldJournal , vol.6 , pp. 1164-1176
    • Bernardet, M.1    Crusio, W.E.2
  • 256
    • 64849084164 scopus 로고    scopus 로고
    • Minimal aberrant behavioral phenotypes of neuroligin-3R451C-knockin mice
    • Chadman K.K., et al. Minimal aberrant behavioral phenotypes of neuroligin-3R451C-knockin mice. Autism Res. 1, 147-158 (2008
    • (2008) Autism Res , vol.1 , pp. 147-158
    • Chadman, K.K.1
  • 257
    • 78650937072 scopus 로고    scopus 로고
    • Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056
    • 64ra1
    • Jacquemont S., et al. Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056. Sci. Transl. Med. 3, 64ra1 (2011
    • (2011) Sci. Transl. Med , vol.3
    • Jacquemont, S.1
  • 258
    • 84875477884 scopus 로고    scopus 로고
    • Long-term administration of intranasal oxytocin is a safe and promising therapy for early adolescent boys with autism spectrum disorders
    • Tachibana M., et al. Long-term administration of intranasal oxytocin is a safe and promising therapy for early adolescent boys with autism spectrum disorders. J. Child Adolesc. Psychopharmacol. 23, 123-127 (2013
    • (2013) J. Child Adolesc. Psychopharmacol , vol.23 , pp. 123-127
    • Tachibana, M.1
  • 259
    • 84894319529 scopus 로고    scopus 로고
    • Nasal oxytocin for social deficits in childhood autism: A random-ized controlled trial
    • Dadds M.R., et al. Nasal oxytocin for social deficits in childhood autism: a random-ized controlled trial. J. Autism Dev. Disord. 44, 521-531 (2014
    • (2014) J. Autism Dev. Disord , vol.44 , pp. 521-531
    • Dadds, M.R.1
  • 260
    • 84924901787 scopus 로고    scopus 로고
    • The effects of a course of intranasal oxytocin on social behaviors in youth diagnosed with autism spectrum disorders: A randomized controlled trial
    • Guastella A.J., et al. The effects of a course of intranasal oxytocin on social behaviors in youth diagnosed with autism spectrum disorders: a randomized controlled trial. J. Child Psychol. Psychiatry 56, 444-452 (2015
    • (2015) J. Child Psychol. Psychiatry , vol.56 , pp. 444-452
    • Guastella, A.J.1
  • 261
    • 84954289332 scopus 로고    scopus 로고
    • Clinical trials for neurodevelopmental disorders: At a therapeutic frontier
    • 321fs1
    • Jeste S.S., & Geschwind D.H. Clinical trials for neurodevelopmental disorders: at a therapeutic frontier. Sci. Transl. Med. 8, 321fs1 (2016
    • (2016) Sci. Transl. Med , vol.8
    • Jeste, S.S.1    Geschwind, D.H.2
  • 262
    • 33645072748 scopus 로고    scopus 로고
    • Behavioral phenotyping of transgenic and knockout mice: Practical concerns and potential pitfalls
    • Bailey K.R., Rustay N.R., & Crawley J.N. Behavioral phenotyping of transgenic and knockout mice: practical concerns and potential pitfalls. ILAR J. 47, 124-131 (2006
    • (2006) ILAR J. , vol.47 , pp. 124-131
    • Bailey, K.R.1    Rustay, N.R.2    Crawley, J.N.3
  • 263
    • 84895925000 scopus 로고    scopus 로고
    • Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder
    • Werling D.M., Lowe J.K., Luo R., Cantor R.M., & Geschwind D.H. Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder. Mol. Autism 5, 13 (2014
    • (2014) Mol. Autism , vol.5 , pp. 13
    • Werling, D.M.1    Lowe, J.K.2    Luo, R.3    Cantor, R.M.4    Geschwind, D.H.5
  • 264
    • 84897019565 scopus 로고    scopus 로고
    • Glioblastoma: From molecular pathol-ogy to targeted treatment
    • Cloughesy T.F., Cavenee W.K., & Mischel P.S. Glioblastoma: from molecular pathol-ogy to targeted treatment. Annu. Rev. Pathol. 9, 1-25 (2014
    • (2014) Annu. Rev. Pathol , vol.9 , pp. 1-25
    • Cloughesy, T.F.1    Cavenee, W.K.2    Mischel, P.S.3
  • 265
    • 84964310852 scopus 로고    scopus 로고
    • Critical periods in speech perception new directions
    • Werker J.F., & Hensch T.K. Critical periods in speech perception: new directions. Annu. Rev. Psychol. 66, 173-196 (2015
    • (2015) Annu. Rev. Psychol , vol.66 , pp. 173-196
    • Werker, J.F.1    Hensch, T.K.2
  • 266
    • 77955058518 scopus 로고
    • The inheritance of liability to certain diseases, estimated from the incidence among relatives
    • Falconer D.S. The inheritance of liability to certain diseases, estimated from the incidence among relatives. Ann. Hum. Genet. 29, 51-76 (1965
    • (1965) Ann. Hum. Genet , vol.29 , pp. 51-76
    • Falconer, D.S.1
  • 267
    • 84907302568 scopus 로고    scopus 로고
    • Enhanced synapse remodeling as a common phenotype in mouse models of autism
    • Isshiki M., et al. Enhanced synapse remodeling as a common phenotype in mouse models of autism. Nat. Commun. 5, 4742 (2014
    • (2014) Nat. Commun , vol.5 , pp. 4742
    • Isshiki, M.1
  • 268
    • 67549083336 scopus 로고    scopus 로고
    • Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism
    • Nakatani J., et al. Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism. Cell 137, 1235-1246 (2009
    • (2009) Cell , vol.137 , pp. 1235-1246
    • Nakatani, J.1
  • 269
    • 84929347256 scopus 로고    scopus 로고
    • Trans-synaptic zinc mobilization improves social interaction in two mouse models of autism through NMDAR activation
    • Lee E.J., et al. Trans-synaptic zinc mobilization improves social interaction in two mouse models of autism through NMDAR activation. Nat. Commun. 6, 7168 (2015
    • (2015) Nat. Commun , vol.6 , pp. 7168
    • Lee, E.J.1
  • 270
    • 84893485922 scopus 로고    scopus 로고
    • Pharmacological rescue of Ras signaling GluA1-dependent synap-tic plasticity and learning deficits in a fragile X model
    • Lim C.S., et al. Pharmacological rescue of Ras signaling, GluA1-dependent synap-tic plasticity and learning deficits in a fragile X model. Genes Dev. 28, 273-289 (2014
    • (2014) Genes Dev , vol.28 , pp. 273-289
    • Lim, C.S.1
  • 271
    • 84933670503 scopus 로고    scopus 로고
    • Selective role of the catalytic PI3K subunit p110-b in impaired higher-order cognition in fragile X syndrome
    • Gross C., et al. Selective role of the catalytic PI3K subunit p110-b in impaired higher-order cognition in fragile X syndrome. Cell Reports 11, 681-688 (2015
    • (2015) Cell Reports , vol.11 , pp. 681-688
    • Gross, C.1
  • 272
    • 78449259794 scopus 로고    scopus 로고
    • Hypersensitivity to mGluR5 and ERK1/2 leads to excessive protein synthesis in the hippocampus of a mouse model of fragile X syndrome
    • Osterweil E.K., Krueger D.D., Reinhold K., & Bear M.F. Hypersensitivity to mGluR5 and ERK1/2 leads to excessive protein synthesis in the hippocampus of a mouse model of fragile X syndrome. J. Neurosci. 30, 15616-15627 (2010
    • (2010) J. Neurosci , vol.30 , pp. 15616-15627
    • Osterweil, E.K.1    Krueger, D.D.2    Reinhold, K.3    Bear, M.F.4
  • 273
    • 70449686185 scopus 로고    scopus 로고
    • Mouse neurexin i alpha deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments
    • Etherton M.R., Blaiss C.A., Powell C.M., & Südhof T.C. Mouse neurexin I alpha deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments. Proc. Natl. Acad. Sci. USA 106, 17998-18003 (2009
    • (2009) Proc. Natl. Acad. Sci. USA , vol.106 , pp. 17998-18003
    • Etherton, M.R.1    Blaiss, C.A.2    Powell, C.M.3    Südhof, T.C.4
  • 274
    • 84879522237 scopus 로고    scopus 로고
    • Altered social behaviors in neurexin-1a-knockout mice resemble core symptoms in neurodevelopmental disor-ders
    • Grayton H.M., Missler M., Collier D.A., & Fernandes C. Altered social behaviors in neurexin-1a-knockout mice resemble core symptoms in neurodevelopmental disor-ders. PLoS One 8, e67114 (2013
    • (2013) Plos One , vol.8 , pp. e67114
    • Grayton, H.M.1    Missler, M.2    Collier, D.A.3    Fernandes, C.4
  • 275
    • 35148858044 scopus 로고    scopus 로고
    • A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice
    • Tabuchi K., et al. A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice. Science 318, 71-76 (2007
    • (2007) Science , vol.318 , pp. 71-76
    • Tabuchi, K.1
  • 276
    • 80051998693 scopus 로고    scopus 로고
    • Autism-linked neuroligin-3R451C mutation differentially alters hippocampal and cortical synaptic function
    • Etherton M., et al. Autism-linked neuroligin-3R451C mutation differentially alters hippocampal and cortical synaptic function. Proc. Natl. Acad. Sci. USA 108, 13764-13769 (2011
    • (2011) Proc. Natl. Acad. Sci. USA , vol.108 , pp. 13764-13769
    • Etherton, M.1
  • 277
    • 84867229875 scopus 로고    scopus 로고
    • Shared synaptic pathophysiology in syndromic and nonsyn-dromic rodent models of autism
    • Baudouin S.J., et al. Shared synaptic pathophysiology in syndromic and nonsyn-dromic rodent models of autism. Science 338, 128-132 (2012
    • (2012) Science , vol.338 , pp. 128-132
    • Baudouin, S.J.1
  • 278
    • 40349096250 scopus 로고    scopus 로고
    • Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism
    • Jamain S., et al. Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism. Proc. Natl. Acad. Sci. USA 105, 1710-1715 (2008
    • (2008) Proc. Natl. Acad. Sci. USA , vol.105 , pp. 1710-1715
    • Jamain, S.1
  • 279
    • 84862274500 scopus 로고    scopus 로고
    • Autistic-like behaviors and hyperactivity in mice lacking ProSAP1 (Shank2
    • Schmeisser M.J., et al. Autistic-like behaviors and hyperactivity in mice lacking ProSAP1 (Shank2). Nature 486, 256-260 (2012
    • (2012) Nature , vol.486 , pp. 256-260
    • Schmeisser, M.J.1
  • 280
    • 79960111638 scopus 로고    scopus 로고
    • Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3
    • Wang X., et al. Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3. Hum. Mol. Genet. 20, 3093-3108 (2011
    • (2011) Hum. Mol. Genet , vol.20 , pp. 3093-3108
    • Wang, X.1
  • 281
    • 80054889797 scopus 로고    scopus 로고
    • Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction and social communication
    • Bozdagi O., et al. Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction and social communication. Mol. Autism 1, 15 (2010
    • (2010) Mol. Autism , vol.1 , pp. 15
    • Bozdagi, O.1
  • 282
    • 84930756551 scopus 로고    scopus 로고
    • Autism-like deficits in Shank3-deficient mice are rescued by targeting actin regulators
    • Duffney L.J., et al. Autism-like deficits in Shank3-deficient mice are rescued by targeting actin regulators. Cell Rep. 11, 1400-1413 (2015
    • (2015) Cell Rep , vol.11 , pp. 1400-1413
    • Duffney, L.J.1
  • 283
    • 84929353630 scopus 로고    scopus 로고
    • The autism-related protein contactin-associated protein-like 2 (cntnap2) stabilizes new spines: An in vivo mouse study
    • Gdalyahu A., et al. The autism-related protein contactin-associated protein-like 2 (CNTNAP2) stabilizes new spines: an in vivo mouse study. PLoS One 10, e0125633 (2015
    • (2015) Plos One , vol.10 , pp. e0125633
    • Gdalyahu, A.1
  • 284
    • 84859454582 scopus 로고    scopus 로고
    • Wild-type microglia arrest pathology in a mouse model of Rett syndrome
    • Derecki N.C., et al. Wild-type microglia arrest pathology in a mouse model of Rett syndrome. Nature 484, 105-109 (2012
    • (2012) Nature , vol.484 , pp. 105-109
    • Derecki, N.C.1
  • 285
    • 79960907896 scopus 로고    scopus 로고
    • A role for glia in the progression of Retts syndrome
    • Lioy D.T., et al. A role for glia in the progression of Retts syndrome. Nature 475, 497-500 (2011
    • (2011) Nature , vol.475 , pp. 497-500
    • Lioy, D.T.1
  • 287
    • 84919856369 scopus 로고    scopus 로고
    • Radial glia require pdgfd-pdgfr-b signaling in human but not mouse neocortex
    • Lui J.H., et al. Radial glia require PDGFD-PDGFR-b signaling in human but not mouse neocortex. Nature 515, 264-268 (2014
    • (2014) Nature , vol.515 , pp. 264-268
    • Lui, J.H.1
  • 288
    • 84878852415 scopus 로고    scopus 로고
    • Modeling human disease with pluripotent stem cells: From genome association to function
    • Merkle F.T., & Eggan K. Modeling human disease with pluripotent stem cells: from genome association to function. Cell Stem Cell 12, 656-668 (2013
    • (2013) Cell Stem Cell , vol.12 , pp. 656-668
    • Merkle, F.T.1    Eggan, K.2
  • 289
    • 84946489377 scopus 로고    scopus 로고
    • Modeling nonsyndromic autism and the impact of TRPC6 disruption in human neurons
    • Griesi-Oliveira K., et al. Modeling nonsyndromic autism and the impact of TRPC6 disruption in human neurons. Mol. Psychiatry 20, 1350-1365 (2015
    • (2015) Mol. Psychiatry , vol.20 , pp. 1350-1365
    • Griesi-Oliveira, K.1
  • 290
    • 84865773360 scopus 로고    scopus 로고
    • CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons
    • Ricciardi S., et al. CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons. Nat. Cell Biol. 14, 911-923 (2012
    • (2012) Nat. Cell Biol , vol.14 , pp. 911-923
    • Ricciardi, S.1
  • 291
    • 84890282623 scopus 로고    scopus 로고
    • Self-organization of axial polarity, inside-out layer pattern and species-specific progenitor dynamics in human ES cell-derived neocortex
    • Kadoshima T., et al. Self-organization of axial polarity, inside-out layer pattern and species-specific progenitor dynamics in human ES cell-derived neocortex. Proc. Natl. Acad. Sci. USA 110, 20284-20289 (2013
    • (2013) Proc. Natl. Acad. Sci. USA , vol.110 , pp. 20284-20289
    • Kadoshima, T.1
  • 292
    • 79955470264 scopus 로고    scopus 로고
    • Delayed functional maturation of human neuronal progenitor cells in vitro
    • Lepski G., et al. Delayed functional maturation of human neuronal progenitor cells in vitro. Mol. Cell. Neurosci. 47, 36-44 (2011
    • (2011) Mol. Cell. Neurosci , vol.47 , pp. 36-44
    • Lepski, G.1
  • 293
    • 84864506775 scopus 로고    scopus 로고
    • Modeling human cortical development in vitro using induced plu-ripotent stem cells
    • Mariani J., et al. Modeling human cortical development in vitro using induced plu-ripotent stem cells. Proc. Natl. Acad. Sci. USA 109, 12770-12775 (2012
    • (2012) Proc. Natl. Acad. Sci. USA , vol.109 , pp. 12770-12775
    • Mariani, J.1
  • 294
    • 84877301288 scopus 로고    scopus 로고
    • Functional maturation of hPSC-derived forebrain interneurons requires an extended timeline and mimics human neural development
    • Nicholas C.R., et al. Functional maturation of hPSC-derived forebrain interneurons requires an extended timeline and mimics human neural development. Cell Stem Cell 12, 573-586 (2013
    • (2013) Cell Stem Cell , vol.12 , pp. 573-586
    • Nicholas, C.R.1
  • 295
    • 84903589616 scopus 로고    scopus 로고
    • Cortecon: A temporal transcriptome analysis of in vitro human cerebral cortex development from human embryonic stem cells
    • Van De Leemput J., et al. CORTECON: a temporal transcriptome analysis of in vitro human cerebral cortex development from human embryonic stem cells. Neuron 83, 51-68 (2014
    • (2014) Neuron , vol.83 , pp. 51-68
    • Van De Leemput, J.1
  • 296
    • 84884669130 scopus 로고    scopus 로고
    • Combined analysis of exome sequencing points toward a major role for transcription regulation during brain development in autism
    • Ben-David E., & Shifman S. Combined analysis of exome sequencing points toward a major role for transcription regulation during brain development in autism. Mol. Psychiatry 18, 1054-1056 (2013
    • (2013) Mol. Psychiatry , vol.18 , pp. 1054-1056
    • Ben-David, E.1    Shifman, S.2
  • 297
    • 84934442315 scopus 로고    scopus 로고
    • Functional cortical neurons and astrocytes from human pluripotent stem cells in 3D culture
    • Paşca A.M., et al. Functional cortical neurons and astrocytes from human pluripotent stem cells in 3D culture. Nat. Methods 12, 671-678 (2015
    • (2015) Nat. Methods , vol.12 , pp. 671-678
    • Paşca, A.M.1
  • 298
    • 84873282055 scopus 로고    scopus 로고
    • Pyramidal neurons derived from human pluripotent stem cells integrate efficiently into mouse brain circuits in vivo
    • Espuny-Camacho I., et al. Pyramidal neurons derived from human pluripotent stem cells integrate efficiently into mouse brain circuits in vivo. Neuron 77, 440-456 (2013
    • (2013) Neuron , vol.77 , pp. 440-456
    • Espuny-Camacho, I.1
  • 299
    • 77950076985 scopus 로고    scopus 로고
    • Neurogenic radial glia in the outer subventricular zone of human neocortex
    • Hansen D.V., Lui J.H., Parker P.R., & Kriegstein A.R. Neurogenic radial glia in the outer subventricular zone of human neocortex. Nature 464, 554-561 (2010
    • (2010) Nature , vol.464 , pp. 554-561
    • Hansen, D.V.1    Lui, J.H.2    Parker, P.R.3    Kriegstein, A.R.4
  • 300
    • 84884414984 scopus 로고    scopus 로고
    • Cerebral organoids model human brain development and microcephaly
    • Lancaster M.A., et al. Cerebral organoids model human brain development and microcephaly. Nature 501, 373-379 (2013
    • (2013) Nature , vol.501 , pp. 373-379
    • Lancaster, M.A.1


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