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Volumn 79, Issue 8, 2016, Pages 642-649

The human model: Changing focus on autism research

Author keywords

Autism spectrum disorders; Brain; Drug screening; Human induced pluripotent stem cells; Human neurons; Human specific disease modeling

Indexed keywords

CYCLIC AMP; FRAGILE X MENTAL RETARDATION PROTEIN; METHYL CPG BINDING PROTEIN 2; NEUROLIGIN; NEW DRUG; POSTSYNAPTIC DENSITY PROTEIN 95; SOMATOMEDIN C; TRANSCRIPTION FACTOR; TRANSIENT RECEPTOR POTENTIAL CHANNEL 6; TYROSINE 3 MONOOXYGENASE; VESICULAR GLUTAMATE TRANSPORTER 1;

EID: 84961120508     PISSN: 00063223     EISSN: 18732402     Source Type: Journal    
DOI: 10.1016/j.biopsych.2015.03.012     Document Type: Review
Times cited : (19)

References (113)
  • 1
    • 0018740511 scopus 로고
    • Severe impairments of social interaction and associated abnormalities in children: Epidemiology and classification
    • L. Wing, and J. Gould Severe impairments of social interaction and associated abnormalities in children: Epidemiology and classification J Autism Dev Disord 9 1979 11 29
    • (1979) J Autism Dev Disord , vol.9 , pp. 11-29
    • Wing, L.1    Gould, J.2
  • 2
    • 0031035019 scopus 로고    scopus 로고
    • Broader autism phenotype: Evidence from a family history study of multiple-incidence autism families
    • J. Piven, P. Palmer, D. Jacobi, D. Childress, and S. Arndt Broader autism phenotype: Evidence from a family history study of multiple-incidence autism families Am J Psychiatry 154 1997 185 190
    • (1997) Am J Psychiatry , vol.154 , pp. 185-190
    • Piven, J.1    Palmer, P.2    Jacobi, D.3    Childress, D.4    Arndt, S.5
  • 4
    • 34447527654 scopus 로고    scopus 로고
    • Neuroscience. Autism's cause may reside in abnormalities at the synapse
    • K. Garber Neuroscience. Autism's cause may reside in abnormalities at the synapse Science 317 2007 190 191
    • (2007) Science , vol.317 , pp. 190-191
    • Garber, K.1
  • 5
    • 78149488365 scopus 로고    scopus 로고
    • A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells
    • M.C. Marchetto, C. Carromeu, A. Acab, D. Yu, G.W. Yeo, Y. Mu, and et al. A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells Cell 143 2010 527 539
    • (2010) Cell , vol.143 , pp. 527-539
    • Marchetto, M.C.1    Carromeu, C.2    Acab, A.3    Yu, D.4    Yeo, G.W.5    Mu, Y.6
  • 6
    • 84860780495 scopus 로고    scopus 로고
    • De novo mutations revealed by whole-exome sequencing are strongly associated with autism
    • S.J. Sanders, M.T. Murtha, A.R. Gupta, J.D. Murdoch, M.J. Raubeson, A.J. Willsey, and et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism Nature 485 2012 237 241
    • (2012) Nature , vol.485 , pp. 237-241
    • Sanders, S.J.1    Murtha, M.T.2    Gupta, A.R.3    Murdoch, J.D.4    Raubeson, M.J.5    Willsey, A.J.6
  • 7
    • 54049144653 scopus 로고    scopus 로고
    • Copy-number variations associated with neuropsychiatric conditions
    • E.H. Cook Jr, and S.W. Scherer Copy-number variations associated with neuropsychiatric conditions Nature 455 2008 919 923
    • (2008) Nature , vol.455 , pp. 919-923
    • Cook, E.H.1    Scherer, S.W.2
  • 9
    • 67349182343 scopus 로고    scopus 로고
    • Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
    • J.T. Glessner, K. Wang, G. Cai, O. Korvatska, C.E. Kim, S. Wood, and et al. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes Nature 459 2009 569 573
    • (2009) Nature , vol.459 , pp. 569-573
    • Glessner, J.T.1    Wang, K.2    Cai, G.3    Korvatska, O.4    Kim, C.E.5    Wood, S.6
  • 10
    • 77954657070 scopus 로고    scopus 로고
    • Functional impact of global rare copy number variation in autism spectrum disorders
    • D. Pinto, A.T. Pagnamenta, L. Klei, R. Anney, D. Merico, R. Regan, and et al. Functional impact of global rare copy number variation in autism spectrum disorders Nature 466 2010 368 372
    • (2010) Nature , vol.466 , pp. 368-372
    • Pinto, D.1    Pagnamenta, A.T.2    Klei, L.3    Anney, R.4    Merico, D.5    Regan, R.6
  • 11
    • 84889561601 scopus 로고    scopus 로고
    • Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism
    • N.N. Parikshak, R. Luo, A. Zhang, H. Won, J.K. Lowe, V. Chandran, and et al. Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism Cell 155 2013 1008 1021
    • (2013) Cell , vol.155 , pp. 1008-1021
    • Parikshak, N.N.1    Luo, R.2    Zhang, A.3    Won, H.4    Lowe, J.K.5    Chandran, V.6
  • 12
    • 84889583293 scopus 로고    scopus 로고
    • Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism
    • A.J. Willsey, S.J. Sanders, M. Li, S. Dong, A.T. Tebbenkamp, R.A. Muhle, and et al. Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism Cell 155 2013 997 1007
    • (2013) Cell , vol.155 , pp. 997-1007
    • Willsey, A.J.1    Sanders, S.J.2    Li, M.3    Dong, S.4    Tebbenkamp, A.T.5    Muhle, R.A.6
  • 13
    • 84896918827 scopus 로고    scopus 로고
    • Patches of disorganization in the neocortex of children with autism
    • R. Stoner, M.L. Chow, M.P. Boyle, S.M. Sunkin, P.R. Mouton, S. Roy, and et al. Patches of disorganization in the neocortex of children with autism N Engl J Med 370 2014 1209 1219
    • (2014) N Engl J Med , vol.370 , pp. 1209-1219
    • Stoner, R.1    Chow, M.L.2    Boyle, M.P.3    Sunkin, S.M.4    Mouton, P.R.5    Roy, S.6
  • 14
    • 79952313504 scopus 로고    scopus 로고
    • Brain growth across the life span in autism: Age-specific changes in anatomical pathology
    • E. Courchesne, K. Campbell, and S. Solso Brain growth across the life span in autism: Age-specific changes in anatomical pathology Brain Res 1380 2011 138 145
    • (2011) Brain Res , vol.1380 , pp. 138-145
    • Courchesne, E.1    Campbell, K.2    Solso, S.3
  • 15
    • 33645926675 scopus 로고    scopus 로고
    • Autism at the beginning: Microstructural and growth abnormalities underlying the cognitive and behavioral phenotype of autism
    • E. Courchesne, E. Redcay, J.T. Morgan, and D.P. Kennedy Autism at the beginning: Microstructural and growth abnormalities underlying the cognitive and behavioral phenotype of autism Dev Psychopathol 17 2005 577 597
    • (2005) Dev Psychopathol , vol.17 , pp. 577-597
    • Courchesne, E.1    Redcay, E.2    Morgan, J.T.3    Kennedy, D.P.4
  • 16
    • 79955601366 scopus 로고    scopus 로고
    • Early brain overgrowth in autism associated with an increase in cortical surface area before age 2 years
    • H.C. Hazlett, M.D. Poe, G. Gerig, M. Styner, C. Chappell, R.G. Smith, and et al. Early brain overgrowth in autism associated with an increase in cortical surface area before age 2 years Arch Gen Psychiatry 68 2011 467 476
    • (2011) Arch Gen Psychiatry , vol.68 , pp. 467-476
    • Hazlett, H.C.1    Poe, M.D.2    Gerig, G.3    Styner, M.4    Chappell, C.5    Smith, R.G.6
  • 17
    • 0035943033 scopus 로고    scopus 로고
    • Unusual brain growth patterns in early life in patients with autistic disorder: An MRI study
    • E. Courchesne, C.M. Karns, H.R. Davis, R. Ziccardi, R.A. Carper, Z.D. Tigue, and et al. Unusual brain growth patterns in early life in patients with autistic disorder: An MRI study Neurology 57 2001 245 254
    • (2001) Neurology , vol.57 , pp. 245-254
    • Courchesne, E.1    Karns, C.M.2    Davis, H.R.3    Ziccardi, R.4    Carper, R.A.5    Tigue, Z.D.6
  • 18
    • 0038601952 scopus 로고    scopus 로고
    • Evidence of brain overgrowth in the first year of life in autism
    • E. Courchesne, R. Carper, and N. Akshoomoff Evidence of brain overgrowth in the first year of life in autism JAMA 290 2003 337 344
    • (2003) JAMA , vol.290 , pp. 337-344
    • Courchesne, E.1    Carper, R.2    Akshoomoff, N.3
  • 19
    • 84883313213 scopus 로고    scopus 로고
    • Early brain enlargement and elevated extra-axial fluid in infants who develop autism spectrum disorder
    • M.D. Shen, C.W. Nordahl, G.S. Young, S.L. Wootton-Gorges, A. Lee, S.E. Liston, and et al. Early brain enlargement and elevated extra-axial fluid in infants who develop autism spectrum disorder Brain 136 2013 2825 2835
    • (2013) Brain , vol.136 , pp. 2825-2835
    • Shen, M.D.1    Nordahl, C.W.2    Young, G.S.3    Wootton-Gorges, S.L.4    Lee, A.5    Liston, S.E.6
  • 20
    • 0036677965 scopus 로고    scopus 로고
    • Cerebral lobes in autism: Early hyperplasia and abnormal age effects
    • R.A. Carper, P. Moses, Z.D. Tigue, and E. Courchesne Cerebral lobes in autism: Early hyperplasia and abnormal age effects Neuroimage 16 2002 1038 1051
    • (2002) Neuroimage , vol.16 , pp. 1038-1051
    • Carper, R.A.1    Moses, P.2    Tigue, Z.D.3    Courchesne, E.4
  • 22
    • 28544442720 scopus 로고    scopus 로고
    • Magnetic resonance imaging and head circumference study of brain size in autism: Birth through age 2 years
    • H.C. Hazlett, M. Poe, G. Gerig, R.G. Smith, J. Provenzale, A. Ross, and et al. Magnetic resonance imaging and head circumference study of brain size in autism: Birth through age 2 years Arch Gen Psychiatry 62 2005 1366 1376
    • (2005) Arch Gen Psychiatry , vol.62 , pp. 1366-1376
    • Hazlett, H.C.1    Poe, M.2    Gerig, G.3    Smith, R.G.4    Provenzale, J.5    Ross, A.6
  • 25
    • 84860611251 scopus 로고    scopus 로고
    • Abnormal microglial-neuronal spatial organization in the dorsolateral prefrontal cortex in autism
    • J.T. Morgan, G. Chana, I. Abramson, K. Semendeferi, E. Courchesne, and I.P. Everall Abnormal microglial-neuronal spatial organization in the dorsolateral prefrontal cortex in autism Brain Res 1456 2012 72 81
    • (2012) Brain Res , vol.1456 , pp. 72-81
    • Morgan, J.T.1    Chana, G.2    Abramson, I.3    Semendeferi, K.4    Courchesne, E.5    Everall, I.P.6
  • 26
    • 67349152455 scopus 로고    scopus 로고
    • The rise in autism and the role of age at diagnosis
    • I. Hertz-Picciotto, and L. Delwiche The rise in autism and the role of age at diagnosis Epidemiology 20 2009 84 90
    • (2009) Epidemiology , vol.20 , pp. 84-90
    • Hertz-Picciotto, I.1    Delwiche, L.2
  • 27
    • 70349856176 scopus 로고    scopus 로고
    • Diagnostic change and the increased prevalence of autism
    • M. King, and P. Bearman Diagnostic change and the increased prevalence of autism Int J Epidemiol 38 2009 1224 1234
    • (2009) Int J Epidemiol , vol.38 , pp. 1224-1234
    • King, M.1    Bearman, P.2
  • 28
    • 36048962688 scopus 로고    scopus 로고
    • Management of children with autism spectrum disorders
    • S.M. Myers, C.P. Johnson American Academy of Pediatrics Council on Children With Disabilities Management of children with autism spectrum disorders Pediatrics 120 2007 1162 1182
    • (2007) Pediatrics , vol.120 , pp. 1162-1182
    • Myers, S.M.1    Johnson, C.P.2
  • 30
    • 84905180333 scopus 로고    scopus 로고
    • Costs of autism spectrum disorders in the United Kingdom and the United States
    • A.V. Buescher, Z. Cidav, M. Knapp, and D.S. Mandell Costs of autism spectrum disorders in the United Kingdom and the United States JAMA Pediatr 168 2014 721 728
    • (2014) JAMA Pediatr , vol.168 , pp. 721-728
    • Buescher, A.V.1    Cidav, Z.2    Knapp, M.3    Mandell, D.S.4
  • 31
    • 84867834354 scopus 로고    scopus 로고
    • Brief report: The medical care of adults with autism spectrum disorders: Identifying the needs
    • M.B. Bruder, G. Kerins, C. Mazzarella, J. Sims, and N. Stein Brief report: The medical care of adults with autism spectrum disorders: Identifying the needs J Autism Dev Disord 42 2012 2498 2904
    • (2012) J Autism Dev Disord , vol.42 , pp. 2498-2904
    • Bruder, M.B.1    Kerins, G.2    Mazzarella, C.3    Sims, J.4    Stein, N.5
  • 32
    • 58249091788 scopus 로고    scopus 로고
    • A national profile of the health care experiences and family impact of autism spectrum disorder among children in the United States, 2005-2006
    • M.D. Kogan, B.B. Strickland, S.J. Blumberg, G.K. Singh, J.M. Perrin, and P.C. van Dyck A national profile of the health care experiences and family impact of autism spectrum disorder among children in the United States, 2005-2006 Pediatrics 122 2008 e1149 e1158
    • (2008) Pediatrics , vol.122 , pp. e1149-e1158
    • Kogan, M.D.1    Strickland, B.B.2    Blumberg, S.J.3    Singh, G.K.4    Perrin, J.M.5    Van Dyck, P.C.6
  • 36
    • 84912101541 scopus 로고    scopus 로고
    • The contribution of de novo coding mutations to autism spectrum disorder
    • I. Iossifov, B.J. O'Roak, S.J. Sanders, M. Ronemus, N. Krumm, D. Levy, and et al. The contribution of de novo coding mutations to autism spectrum disorder Nature 515 2014 216 221
    • (2014) Nature , vol.515 , pp. 216-221
    • Iossifov, I.1    O'Roak, B.J.2    Sanders, S.J.3    Ronemus, M.4    Krumm, N.5    Levy, D.6
  • 39
    • 70350338847 scopus 로고    scopus 로고
    • Of mice and men: Bridging the translational disconnect in CNS drug discovery
    • H. Geerts Of mice and men: Bridging the translational disconnect in CNS drug discovery CNS Drugs 23 2009 915 926
    • (2009) CNS Drugs , vol.23 , pp. 915-926
    • Geerts, H.1
  • 42
    • 77953800799 scopus 로고    scopus 로고
    • Behavioural phenotyping assays for mouse models of autism
    • J.L. Silverman, M. Yang, C. Lord, and J.N. Crawley Behavioural phenotyping assays for mouse models of autism Nat Rev Neurosci 11 2010 490 502
    • (2010) Nat Rev Neurosci , vol.11 , pp. 490-502
    • Silverman, J.L.1    Yang, M.2    Lord, C.3    Crawley, J.N.4
  • 43
    • 84880166349 scopus 로고    scopus 로고
    • Maternal antibodies from mothers of children with autism alter brain growth and social behavior development in the rhesus monkey
    • M.D. Bauman, A.M. Iosif, P. Ashwood, D. Braunschweig, A. Lee, C.M. Schumann, and et al. Maternal antibodies from mothers of children with autism alter brain growth and social behavior development in the rhesus monkey Transl Psychiatry 3 2013 e278
    • (2013) Transl Psychiatry , vol.3 , pp. e278
    • Bauman, M.D.1    Iosif, A.M.2    Ashwood, P.3    Braunschweig, D.4    Lee, A.5    Schumann, C.M.6
  • 44
    • 84896142186 scopus 로고    scopus 로고
    • TALEN-mediated gene mutagenesis in rhesus and cynomolgus monkeys
    • H. Liu, Y. Chen, Y. Niu, K. Zhang, Y. Kang, W. Ge, and et al. TALEN-mediated gene mutagenesis in rhesus and cynomolgus monkeys Cell Stem Cell 14 2014 323 328
    • (2014) Cell Stem Cell , vol.14 , pp. 323-328
    • Liu, H.1    Chen, Y.2    Niu, Y.3    Zhang, K.4    Kang, Y.5    Ge, W.6
  • 45
    • 84902361082 scopus 로고    scopus 로고
    • Generation of a monkey with MECP2 mutations by TALEN-based gene targeting
    • Z. Liu, X. Zhou, Y. Zhu, Z.F. Chen, B. Yu, Y. Wang, and et al. Generation of a monkey with MECP2 mutations by TALEN-based gene targeting Neurosci Bull 30 2014 381 386
    • (2014) Neurosci Bull , vol.30 , pp. 381-386
    • Liu, Z.1    Zhou, X.2    Zhu, Y.3    Chen, Z.F.4    Yu, B.5    Wang, Y.6
  • 46
    • 48749089453 scopus 로고    scopus 로고
    • The adult human brain in preclinical drug development
    • M. Dragunow The adult human brain in preclinical drug development Nat Rev Drug Discov 7 2008 659 666
    • (2008) Nat Rev Drug Discov , vol.7 , pp. 659-666
    • Dragunow, M.1
  • 47
    • 80155144126 scopus 로고    scopus 로고
    • Induced pluripotent stem cells (iPSCs) and neurological disease modeling: Progress and promises
    • M.C. Marchetto, K.J. Brennand, L.F. Boyer, and F.H. Gage Induced pluripotent stem cells (iPSCs) and neurological disease modeling: Progress and promises Hum Mol Genet 20 2011 R109 R115
    • (2011) Hum Mol Genet , vol.20 , pp. R109-R115
    • Marchetto, M.C.1    Brennand, K.J.2    Boyer, L.F.3    Gage, F.H.4
  • 48
    • 33747195353 scopus 로고    scopus 로고
    • Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors
    • K. Takahashi, and S. Yamanaka Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors Cell 126 2006 663 676
    • (2006) Cell , vol.126 , pp. 663-676
    • Takahashi, K.1    Yamanaka, S.2
  • 51
    • 79956212343 scopus 로고    scopus 로고
    • Constructing and deconstructing stem cell models of neurological disease
    • S.S. Han, L.A. Williams, and K.C. Eggan Constructing and deconstructing stem cell models of neurological disease Neuron 70 2011 626 644
    • (2011) Neuron , vol.70 , pp. 626-644
    • Han, S.S.1    Williams, L.A.2    Eggan, K.C.3
  • 55
    • 80052225992 scopus 로고    scopus 로고
    • Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients
    • M. Mitne-Neto, M. Machado-Costa, M.C. Marchetto, M.H. Bengtson, C.A. Joazeiro, H. Tsuda, and et al. Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients Hum Mol Genet 20 2011 3642 3652
    • (2011) Hum Mol Genet , vol.20 , pp. 3642-3652
    • Mitne-Neto, M.1    MacHado-Costa, M.2    Marchetto, M.C.3    Bengtson, M.H.4    Joazeiro, C.A.5    Tsuda, H.6
  • 56
    • 84978012381 scopus 로고    scopus 로고
    • Self-organization of polarized cerebellar tissue in 3D culture of human pluripotent stem cells
    • K. Muguruma, A. Nishiyama, H. Kawakami, K. Hashimoto, and Y. Sasai Self-organization of polarized cerebellar tissue in 3D culture of human pluripotent stem cells Cell Rep 14 2015 1104 1108
    • (2015) Cell Rep , vol.14 , pp. 1104-1108
    • Muguruma, K.1    Nishiyama, A.2    Kawakami, H.3    Hashimoto, K.4    Sasai, Y.5
  • 57
    • 84922639322 scopus 로고    scopus 로고
    • HPSC-derived maturing GABAergic interneurons ameliorate seizures and abnormal behavior in epileptic mice
    • M. Cunningham, J.H. Cho, A. Leung, G. Savvidis, S. Ahn, M. Moon, and et al. hPSC-derived maturing GABAergic interneurons ameliorate seizures and abnormal behavior in epileptic mice Cell Stem Cell 15 2014 559 573
    • (2014) Cell Stem Cell , vol.15 , pp. 559-573
    • Cunningham, M.1    Cho, J.H.2    Leung, A.3    Savvidis, G.4    Ahn, S.5    Moon, M.6
  • 58
    • 84902581238 scopus 로고    scopus 로고
    • Efficient specification of interneurons from human pluripotent stem cells by dorsoventral and rostrocaudal modulation
    • T.G. Kim, R. Yao, T. Monnell, J.H. Cho, A. Vasudevan, A. Koh, and et al. Efficient specification of interneurons from human pluripotent stem cells by dorsoventral and rostrocaudal modulation Stem Cells 32 2014 1789 1804
    • (2014) Stem Cells , vol.32 , pp. 1789-1804
    • Kim, T.G.1    Yao, R.2    Monnell, T.3    Cho, J.H.4    Vasudevan, A.5    Koh, A.6
  • 59
    • 84924043613 scopus 로고    scopus 로고
    • Human-derived neural progenitors functionally replace astrocytes in adult mice
    • H. Chen, K. Qian, W. Chen, B. Hu, L.W. Blackbourn 4th, Z. Du, and et al. Human-derived neural progenitors functionally replace astrocytes in adult mice J Clin Invest 125 2015 1033 1042
    • (2015) J Clin Invest , vol.125 , pp. 1033-1042
    • Chen, H.1    Qian, K.2    Chen, W.3    Hu, B.4    Blackbourn, L.W.5    Du, Z.6
  • 60
    • 8644259350 scopus 로고    scopus 로고
    • Dopaminergic differentiation of human embryonic stem cells
    • X. Zeng, J. Cai, J. Chen, Y. Luo, Z.B. You, E. Fotter, and et al. Dopaminergic differentiation of human embryonic stem cells Stem Cells 22 2004 925 940
    • (2004) Stem Cells , vol.22 , pp. 925-940
    • Zeng, X.1    Cai, J.2    Chen, J.3    Luo, Y.4    You, Z.B.5    Fotter, E.6
  • 61
    • 80054798510 scopus 로고    scopus 로고
    • Directed differentiation of functional astroglial subtypes from human pluripotent stem cells
    • R. Krencik, and S.C. Zhang Directed differentiation of functional astroglial subtypes from human pluripotent stem cells Nat Protoc 6 2011 1710 1717
    • (2011) Nat Protoc , vol.6 , pp. 1710-1717
    • Krencik, R.1    Zhang, S.C.2
  • 62
    • 79960833952 scopus 로고    scopus 로고
    • Generation of isogenic pluripotent stem cells differing exclusively at two early onset Parkinson point mutations
    • F. Soldner, J. Laganiere, A.W. Cheng, D. Hockemeyer, Q. Gao, R. Alagappan, and et al. Generation of isogenic pluripotent stem cells differing exclusively at two early onset Parkinson point mutations Cell 146 2011 318 331
    • (2011) Cell , vol.146 , pp. 318-331
    • Soldner, F.1    Laganiere, J.2    Cheng, A.W.3    Hockemeyer, D.4    Gao, Q.5    Alagappan, R.6
  • 63
    • 79957866291 scopus 로고    scopus 로고
    • Targeted gene correction of laminopathy-associated LMNA mutations in patient-specific iPSCs
    • G.H. Liu, K. Suzuki, J. Qu, I. Sancho-Martinez, F. Yi, M. Li, and et al. Targeted gene correction of laminopathy-associated LMNA mutations in patient-specific iPSCs Cell Stem Cell 8 2011 688 694
    • (2011) Cell Stem Cell , vol.8 , pp. 688-694
    • Liu, G.H.1    Suzuki, K.2    Qu, J.3    Sancho-Martinez, I.4    Yi, F.5    Li, M.6
  • 64
    • 84922584195 scopus 로고    scopus 로고
    • Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain
    • X. Cai, G.D. Evrony, H.S. Lehmann, P.C. Elhosary, B.K. Mehta, A. Poduri, and C.A. Walsh Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain Cell Rep 8 2014 1280 1289
    • (2014) Cell Rep , vol.8 , pp. 1280-1289
    • Cai, X.1    Evrony, G.D.2    Lehmann, H.S.3    Elhosary, P.C.4    Mehta, B.K.5    Poduri, A.6    Walsh, C.A.7
  • 65
    • 84897458124 scopus 로고    scopus 로고
    • Targeted genome editing tools for disease modeling and gene therapy
    • M. Cai, and Y. Yang Targeted genome editing tools for disease modeling and gene therapy Curr Gene Ther 14 2014 2 9
    • (2014) Curr Gene Ther , vol.14 , pp. 2-9
    • Cai, M.1    Yang, Y.2
  • 66
    • 79955602167 scopus 로고    scopus 로고
    • Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation
    • A.Y. Cheung, L.M. Horvath, D. Grafodatskaya, P. Pasceri, R. Weksberg, A. Hotta, and et al. Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation Hum Mol Genet 20 2011 2103 2115
    • (2011) Hum Mol Genet , vol.20 , pp. 2103-2115
    • Cheung, A.Y.1    Horvath, L.M.2    Grafodatskaya, D.3    Pasceri, P.4    Weksberg, R.5    Hotta, A.6
  • 68
    • 84885113952 scopus 로고    scopus 로고
    • IPSC crowdsourcing: A model for obtaining large panels of stem cell lines for screening
    • M. Rao iPSC crowdsourcing: A model for obtaining large panels of stem cell lines for screening Cell Stem Cell 13 2013 389 391
    • (2013) Cell Stem Cell , vol.13 , pp. 389-391
    • Rao, M.1
  • 69
    • 84882678304 scopus 로고    scopus 로고
    • Inducible pluripotent stem cells in autism spectrum disorders
    • J.D. Buxbaum, P.R. Hof, 1st ed. Elsevier Oxford, UK
    • A.R. Muotri Inducible pluripotent stem cells in autism spectrum disorders J.D. Buxbaum, P.R. Hof, The Neuroscience of Autism Spectrum Disorders 1st ed. 2013 Elsevier Oxford, UK 391 400
    • (2013) The Neuroscience of Autism Spectrum Disorders , pp. 391-400
    • Muotri, A.R.1
  • 70
    • 0027963287 scopus 로고
    • Rett syndrome: 3-D confocal microscopy of cortical pyramidal dendrites and afferents
    • P.V. Belichenko, A. Oldfors, B. Hagberg, and A. Dahlstrom Rett syndrome: 3-D confocal microscopy of cortical pyramidal dendrites and afferents Neuroreport 5 1994 1509 1513
    • (1994) Neuroreport , vol.5 , pp. 1509-1513
    • Belichenko, P.V.1    Oldfors, A.2    Hagberg, B.3    Dahlstrom, A.4
  • 72
    • 80053143413 scopus 로고    scopus 로고
    • Isogenic pairsof wild type and mutant induced pluripotent stem cell (iPSC) lines from Rett syndrome patients as in vitro disease model
    • G. Ananiev, E.C. Williams, H. Li, and Q. Chang Isogenic pairsof wild type and mutant induced pluripotent stem cell (iPSC) lines from Rett syndrome patients as in vitro disease model PLoS One 6 2011 e25255
    • (2011) PLoS One , vol.6 , pp. e25255
    • Ananiev, G.1    Williams, E.C.2    Li, H.3    Chang, Q.4
  • 73
    • 80052155858 scopus 로고    scopus 로고
    • Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome
    • K.Y. Kim, E. Hysolli, and I.H. Park Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome Proc Natl Acad Sci U S A 108 2011 14169 14174
    • (2011) Proc Natl Acad Sci U S A , vol.108 , pp. 14169-14174
    • Kim, K.Y.1    Hysolli, E.2    Park, I.H.3
  • 74
    • 0025905795 scopus 로고
    • Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
    • A.J. Verkerk, M. Pieretti, J.S. Sutcliffe, Y.H. Fu, D.P. Kuhl, A. Pizzuti, and et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome Cell 65 1991 905 914
    • (1991) Cell , vol.65 , pp. 905-914
    • Verkerk, A.J.1    Pieretti, M.2    Sutcliffe, J.S.3    Fu, Y.H.4    Kuhl, D.P.5    Pizzuti, A.6
  • 75
    • 35848937244 scopus 로고    scopus 로고
    • Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos
    • R. Eiges, A. Urbach, M. Malcov, T. Frumkin, T. Schwartz, A. Amit, and et al. Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos Cell Stem Cell 1 2007 568 577
    • (2007) Cell Stem Cell , vol.1 , pp. 568-577
    • Eiges, R.1    Urbach, A.2    Malcov, M.3    Frumkin, T.4    Schwartz, T.5    Amit, A.6
  • 76
    • 77956214743 scopus 로고    scopus 로고
    • Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells
    • A. Urbach, O. Bar-Nur, G.Q. Daley, and N. Benvenisty Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells Cell Stem Cell 6 2010 407 411
    • (2010) Cell Stem Cell , vol.6 , pp. 407-411
    • Urbach, A.1    Bar-Nur, O.2    Daley, G.Q.3    Benvenisty, N.4
  • 77
    • 80053948646 scopus 로고    scopus 로고
    • Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome
    • S.D. Sheridan, K.M. Theriault, S.A. Reis, F. Zhou, J.M. Madison, L. Daheron, and et al. Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome PloS One 6 2011 e26203
    • (2011) PloS One , vol.6 , pp. e26203
    • Sheridan, S.D.1    Theriault, K.M.2    Reis, S.A.3    Zhou, F.4    Madison, J.M.5    Daheron, L.6
  • 78
    • 84904608102 scopus 로고    scopus 로고
    • IPSC-derived forebrain neurons from FXS individuals show defects in initial neurite outgrowth
    • M.E. Doers, M.T. Musser, R. Nichol, E.R. Berndt, M. Baker, T.M. Gomez, and et al. iPSC-derived forebrain neurons from FXS individuals show defects in initial neurite outgrowth Stem Cells Dev 23 2014 1777 1787
    • (2014) Stem Cells Dev , vol.23 , pp. 1777-1787
    • Doers, M.E.1    Musser, M.T.2    Nichol, R.3    Berndt, E.R.4    Baker, M.5    Gomez, T.M.6
  • 79
    • 5344223383 scopus 로고    scopus 로고
    • Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
    • I. Splawski, K.W. Timothy, L.M. Sharpe, N. Decher, P. Kumar, and R. Bloise Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism Cell 119 2004 19 31
    • (2004) Cell , vol.119 , pp. 19-31
    • Splawski, I.1    Timothy, K.W.2    Sharpe, L.M.3    Decher, N.4    Kumar, P.5    Bloise, R.6
  • 81
    • 84856088804 scopus 로고    scopus 로고
    • Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome
    • S.P. Pasca, T. Portmann, I. Voineagu, M. Yazawa, A. Shcheglovitov, A.M. Pasca, and et al. Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome Nat Med 17 2011 1657 1662
    • (2011) Nat Med , vol.17 , pp. 1657-1662
    • Pasca, S.P.1    Portmann, T.2    Voineagu, I.3    Yazawa, M.4    Shcheglovitov, A.5    Pasca, A.M.6
  • 82
    • 84885333618 scopus 로고    scopus 로고
    • Neurons generated by direct conversion of fibroblasts reproduce synaptic phenotype caused by autism-associated neuroligin-3 mutation
    • S. Chanda, S. Marro, M. Wernig, and T.C. Sudhof Neurons generated by direct conversion of fibroblasts reproduce synaptic phenotype caused by autism-associated neuroligin-3 mutation Proc Natl Acad Sci U S A 110 2013 16622 16627
    • (2013) Proc Natl Acad Sci U S A , vol.110 , pp. 16622-16627
    • Chanda, S.1    Marro, S.2    Wernig, M.3    Sudhof, T.C.4
  • 83
    • 0033165926 scopus 로고    scopus 로고
    • Shank, a novel family of postsynaptic density proteins that binds to the NMDA receptor/PSD-95/GKAP complex and cortactin
    • S. Naisbitt, E. Kim, J.C. Tu, B. Xiao, C. Sala, J. Valtschanoff, and et al. Shank, a novel family of postsynaptic density proteins that binds to the NMDA receptor/PSD-95/GKAP complex and cortactin Neuron 23 1999 569 582
    • (1999) Neuron , vol.23 , pp. 569-582
    • Naisbitt, S.1    Kim, E.2    Tu, J.C.3    Xiao, B.4    Sala, C.5    Valtschanoff, J.6
  • 84
    • 84887627330 scopus 로고    scopus 로고
    • SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients
    • A. Shcheglovitov, O. Shcheglovitova, M. Yazawa, T. Portmann, R. Shu, V. Sebastiano, and et al. SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients Nature 503 2013 267 271
    • (2013) Nature , vol.503 , pp. 267-271
    • Shcheglovitov, A.1    Shcheglovitova, O.2    Yazawa, M.3    Portmann, T.4    Shu, R.5    Sebastiano, V.6
  • 86
    • 0031012849 scopus 로고    scopus 로고
    • UBE3A/E6-AP mutations cause Angelman syndrome
    • T. Kishino, M. Lalande, and J. Wagstaff UBE3A/E6-AP mutations cause Angelman syndrome Nat Genet 15 1997 70 73
    • (1997) Nat Genet , vol.15 , pp. 70-73
    • Kishino, T.1    Lalande, M.2    Wagstaff, J.3
  • 87
    • 84906923071 scopus 로고    scopus 로고
    • Gene expression analyses of human induced pluripotent stem cell-derived neurons carrying copy number variants of chromosome 15q11-q13.1
    • N.D. Germain, P.F. Chen, A.M. Plocik, H. Glatt-Deeley, J. Brown, J.J. Fink, and et al. Gene expression analyses of human induced pluripotent stem cell-derived neurons carrying copy number variants of chromosome 15q11-q13.1 Mol Autism 5 2014 44 62
    • (2014) Mol Autism , vol.5 , pp. 44-62
    • Germain, N.D.1    Chen, P.F.2    Plocik, A.M.3    Glatt-Deeley, H.4    Brown, J.5    Fink, J.J.6
  • 88
    • 79958074870 scopus 로고    scopus 로고
    • Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism
    • S.J. Sanders, A.G. Ercan-Sencicek, V. Hus, R. Luo, M.T. Murtha, D. Moreno-De-Luca, and et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism Neuron 70 2011 863 885
    • (2011) Neuron , vol.70 , pp. 863-885
    • Sanders, S.J.1    Ercan-Sencicek, A.G.2    Hus, V.3    Luo, R.4    Murtha, M.T.5    Moreno-De-Luca, D.6
  • 89
    • 84965113064 scopus 로고    scopus 로고
    • 7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages
    • A. Adamo, S. Atashpaz, P.L. Germain, M. Zanella, G. D'Agostino, V. Albertin, and et al. 7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages Nat Genet 47 2015 132 141
    • (2015) Nat Genet , vol.47 , pp. 132-141
    • Adamo, A.1    Atashpaz, S.2    Germain, P.L.3    Zanella, M.4    D'Agostino, G.5    Albertin, V.6
  • 90
    • 80054889797 scopus 로고    scopus 로고
    • Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication
    • O. Bozdagi, T. Sakurai, D. Papapetrou, X. Wang, D.L. Dickstein, N. Takahashi, and et al. Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication Mol Autism 1 2010 15
    • (2010) Mol Autism , vol.1 , pp. 15
    • Bozdagi, O.1    Sakurai, T.2    Papapetrou, D.3    Wang, X.4    Dickstein, D.L.5    Takahashi, N.6
  • 91
    • 67349202186 scopus 로고    scopus 로고
    • Altered synchrony and connectivity in neuronal networks expressing an autism-related mutation of neuroligin 3
    • R.C. Gutierrez, J. Hung, Y. Zhang, A.C. Kertesz, F.J. Espina, and M.A. Colicos Altered synchrony and connectivity in neuronal networks expressing an autism-related mutation of neuroligin 3 Neuroscience 162 2009 208 221
    • (2009) Neuroscience , vol.162 , pp. 208-221
    • Gutierrez, R.C.1    Hung, J.2    Zhang, Y.3    Kertesz, A.C.4    Espina, F.J.5    Colicos, M.A.6
  • 92
    • 79958032110 scopus 로고    scopus 로고
    • Rare de novo and transmitted copy-number variation in autistic spectrum disorders
    • D. Levy, M. Ronemus, B. Yamrom, Y.H. Lee, A. Leotta, J. Kendall, and et al. Rare de novo and transmitted copy-number variation in autistic spectrum disorders Neuron 70 2011 886 897
    • (2011) Neuron , vol.70 , pp. 886-897
    • Levy, D.1    Ronemus, M.2    Yamrom, B.3    Lee, Y.H.4    Leotta, A.5    Kendall, J.6
  • 93
    • 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
    • S.R. Gilman, I. Iossifov, D. Levy, M. Ronemus, M. Wigler, and D. Vitkup Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses Neuron 70 2011 898 907
    • (2011) Neuron , vol.70 , pp. 898-907
    • Gilman, S.R.1    Iossifov, I.2    Levy, D.3    Ronemus, M.4    Wigler, M.5    Vitkup, D.6
  • 94
    • 77049120173 scopus 로고    scopus 로고
    • The genetics of autism: Key issues, recent findings, and clinical implications
    • P. El-Fishawy, and M.W. State The genetics of autism: Key issues, recent findings, and clinical implications Psychiatr Clin North Am 33 2010 83 105
    • (2010) Psychiatr Clin North Am , vol.33 , pp. 83-105
    • El-Fishawy, P.1    State, M.W.2
  • 95
    • 80051920294 scopus 로고    scopus 로고
    • Genetics of autism spectrum disorders
    • D.H. Geschwind Genetics of autism spectrum disorders Trends Cogn Sci 15 2011 409 416
    • (2011) Trends Cogn Sci , vol.15 , pp. 409-416
    • Geschwind, D.H.1
  • 96
    • 39049163023 scopus 로고    scopus 로고
    • Association between microdeletion and microduplication at 16p11.2 and autism
    • L.A. Weiss, Y. Shen, J.M. Korn, D.E. Arking, D.T. Miller, R. Fossdal, and et al. Association between microdeletion and microduplication at 16p11.2 and autism N Engl J Med 358 2008 667 675
    • (2008) N Engl J Med , vol.358 , pp. 667-675
    • Weiss, L.A.1    Shen, Y.2    Korn, J.M.3    Arking, D.E.4    Miller, D.T.5    Fossdal, R.6
  • 97
    • 67651233780 scopus 로고    scopus 로고
    • Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes
    • M. Bucan, B.S. Abrahams, K. Wang, J.T. Glessner, E.I. Herman, L.I. Sonnenblick, and et al. Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes PLoS Genetics 5 2009 e1000536
    • (2009) PLoS Genetics , vol.5 , pp. e1000536
    • Bucan, M.1    Abrahams, B.S.2    Wang, K.3    Glessner, J.T.4    Herman, E.I.5    Sonnenblick, L.I.6
  • 98
    • 82255192290 scopus 로고    scopus 로고
    • The conundrums of understanding genetic risks for autism spectrum disorders
    • M.W. State, and P. Levitt The conundrums of understanding genetic risks for autism spectrum disorders Nat Neurosci 14 2011 1499 1506
    • (2011) Nat Neurosci , vol.14 , pp. 1499-1506
    • State, M.W.1    Levitt, P.2
  • 100
    • 49649088696 scopus 로고    scopus 로고
    • TRPC6 channels promote dendritic growth via the CaMKIV-CREB pathway
    • Y. Tai, S. Feng, R. Ge, W. Du, X. Zhang, Z. He, and Y. Wang TRPC6 channels promote dendritic growth via the CaMKIV-CREB pathway J Cell Sci 121 2008 2301 2307
    • (2008) J Cell Sci , vol.121 , pp. 2301-2307
    • Tai, Y.1    Feng, S.2    Ge, R.3    Du, W.4    Zhang, X.5    He, Z.6    Wang, Y.7
  • 101
    • 46049112457 scopus 로고    scopus 로고
    • Critical role of TRPC6 channels in the formation of excitatory synapses
    • J. Zhou, W. Du, K. Zhou, Y. Tai, H. Yao, Y. Jia, and et al. Critical role of TRPC6 channels in the formation of excitatory synapses Nat Neurosci 11 2008 741 743
    • (2008) Nat Neurosci , vol.11 , pp. 741-743
    • Zhou, J.1    Du, W.2    Zhou, K.3    Tai, Y.4    Yao, H.5    Jia, Y.6
  • 102
    • 84865853434 scopus 로고    scopus 로고
    • Animal models and conserved processes
    • R. Greek, and M.J. Rice Animal models and conserved processes Theor Biol Med Model 9 2012 40
    • (2012) Theor Biol Med Model , vol.9 , pp. 40
    • Greek, R.1    Rice, M.J.2
  • 104
  • 106
    • 80054726357 scopus 로고    scopus 로고
    • Direct lineage conversions: Unnatural but useful?
    • T. Vierbuchen, and M. Wernig Direct lineage conversions: Unnatural but useful? Nat Biotechnol 29 2011 892 907
    • (2011) Nat Biotechnol , vol.29 , pp. 892-907
    • Vierbuchen, T.1    Wernig, M.2
  • 107
    • 84870342625 scopus 로고    scopus 로고
    • Astrocyte-induced synaptogenesis is mediated by transforming growth factor beta signaling through modulation of D-serine levels in cerebral cortex neurons
    • L.P. Diniz, J.C. Almeida, V. Tortelli, C. Vargas Lopes, P. Setti-Perdigao, J. Stipursky, and et al. Astrocyte-induced synaptogenesis is mediated by transforming growth factor beta signaling through modulation of D-serine levels in cerebral cortex neurons J Biol Chem 287 2012 41432 41445
    • (2012) J Biol Chem , vol.287 , pp. 41432-41445
    • Diniz, L.P.1    Almeida, J.C.2    Tortelli, V.3    Vargas Lopes, C.4    Setti-Perdigao, P.5    Stipursky, J.6
  • 108
    • 84890547494 scopus 로고    scopus 로고
    • Astrocytes mediate synapse elimination through MEGF10 and MERTK pathways
    • W.S. Chung, L.E. Clarke, G.X. Wang, B.K. Stafford, A. Sher, C. Chakraborty, and et al. Astrocytes mediate synapse elimination through MEGF10 and MERTK pathways Nature 504 2013 394 400
    • (2013) Nature , vol.504 , pp. 394-400
    • Chung, W.S.1    Clarke, L.E.2    Wang, G.X.3    Stafford, B.K.4    Sher, A.5    Chakraborty, C.6
  • 109
    • 84904396621 scopus 로고    scopus 로고
    • Organogenesis in a dish: Modeling development and disease using organoid technologies
    • M.A. Lancaster, and J.A. Knoblich Organogenesis in a dish: Modeling development and disease using organoid technologies Science 345 2014 1247125
    • (2014) Science , vol.345 , pp. 1247125
    • Lancaster, M.A.1    Knoblich, J.A.2
  • 110
    • 84862778046 scopus 로고    scopus 로고
    • Human cerebral cortex development from pluripotent stem cells to functional excitatory synapses
    • Y. Shi, P. Kirwan, J. Smith, H.P. Robinson, and F.J. Livesey Human cerebral cortex development from pluripotent stem cells to functional excitatory synapses Nat Neurosci 15 2012 477 486
    • (2012) Nat Neurosci , vol.15 , pp. 477-486
    • Shi, Y.1    Kirwan, P.2    Smith, J.3    Robinson, H.P.4    Livesey, F.J.5
  • 112
    • 84870030633 scopus 로고    scopus 로고
    • Directed differentiation of human pluripotent stem cells to cerebral cortex neurons and neural networks
    • Y. Shi, P. Kirwan, and F.J. Livesey Directed differentiation of human pluripotent stem cells to cerebral cortex neurons and neural networks Nat Protoc 7 2012 1836 1846
    • (2012) Nat Protoc , vol.7 , pp. 1836-1846
    • Shi, Y.1    Kirwan, P.2    Livesey, F.J.3
  • 113
    • 84898034713 scopus 로고    scopus 로고
    • Intrinsic membrane hyperexcitability of amyotrophic lateral sclerosis patient-derived motor neurons
    • B.J. Wainger, E. Kiskinis, C. Mellin, O. Wiskow, S.S. Han, J. Sandoe, and et al. Intrinsic membrane hyperexcitability of amyotrophic lateral sclerosis patient-derived motor neurons Cell Rep 7 2014 1 11
    • (2014) Cell Rep , vol.7 , pp. 1-11
    • Wainger, B.J.1    Kiskinis, E.2    Mellin, C.3    Wiskow, O.4    Han, S.S.5    Sandoe, J.6


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