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Volumn 12, Issue 3, 2015, Pages 534-545

The Use of Induced Pluripotent Stem Cell Technology to Advance Autism Research and Treatment

Author keywords

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

Indexed keywords

BIOLOGICAL MARKER;

EID: 84937631113     PISSN: 19337213     EISSN: 18787479     Source Type: Journal    
DOI: 10.1007/s13311-015-0354-x     Document Type: Review
Times cited : (21)

References (136)
  • 1
    • 0018740511 scopus 로고
    • Severe impairments of social interaction and associated abnormalities in children: epidemiology and classification
    • COI: 1:STN:280:DyaE1M7nt1ygug%3D%3D, PID: 155684
    • Wing L, Gould J. Severe impairments of social interaction and associated abnormalities in children: epidemiology and classification. J Autism Dev Disord 1979;9:11-29.
    • (1979) J Autism Dev Disord , vol.9 , pp. 11-29
    • Wing, L.1    Gould, J.2
  • 2
    • 84937628974 scopus 로고    scopus 로고
    • American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders, 5th Edition, American Psychiatric Association, Washington, DC.
    • American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders, 5th Edition, American Psychiatric Association, Washington, DC.
  • 3
    • 82255192290 scopus 로고    scopus 로고
    • The conundrums of understanding genetic risks for autism spectrum disorders
    • COI: 1:CAS:528:DC%2BC3MXhtlyis7vM, PID: 22037497
    • State MW, Levitt P. The conundrums of understanding genetic risks for autism spectrum disorders. Nat Neurosci 2011;14:1499-1506.
    • (2011) Nat Neurosci , vol.14 , pp. 1499-1506
    • State, M.W.1    Levitt, P.2
  • 4
    • 80051920294 scopus 로고    scopus 로고
    • Genetics of autism spectrum disorders
    • PID: 21855394
    • Geschwind DH. Genetics of autism spectrum disorders. Trends Cogn Sci 2011;15:409-416.
    • (2011) Trends Cogn Sci , vol.15 , pp. 409-416
    • Geschwind, D.H.1
  • 5
    • 33746314832 scopus 로고    scopus 로고
    • Searching for ways out of the autism maze: genetic, epigenetic and environmental clues
    • COI: 1:CAS:528:DC%2BD28Xns1Sltbw%3D, PID: 16808981
    • Persico AM, Bourgeron T. Searching for ways out of the autism maze: genetic, epigenetic and environmental clues. Trends Neurosci 2006;29:349-358.
    • (2006) Trends Neurosci , vol.29 , pp. 349-358
    • Persico, A.M.1    Bourgeron, T.2
  • 6
    • 84871448593 scopus 로고    scopus 로고
    • Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
    • PID: 23160955
    • O'Roak BJ, Vives L, Fu W, et al. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science 2012;338:1619-1622.
    • (2012) Science , vol.338 , pp. 1619-1622
    • O'Roak, B.J.1    Vives, L.2    Fu, W.3
  • 7
    • 84881664021 scopus 로고    scopus 로고
    • Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing
    • COI: 1:CAS:528:DC%2BC3sXhtV2rt7vE, PID: 23849776
    • Jiang YH, Yuen RK, Jin X, et al. Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. Am J Hum Genet 2013;93:249-263.
    • (2013) Am J Hum Genet , vol.93 , pp. 249-263
    • Jiang, Y.H.1    Yuen, R.K.2    Jin, X.3
  • 8
    • 84912101541 scopus 로고    scopus 로고
    • The contribution of de novo coding mutations to autism spectrum disorder
    • COI: 1:CAS:528:DC%2BC2cXhvVemtrnN, PID: 25363768
    • Iossifov I, O'Roak BJ, Sanders SJ, et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature 2014;515:216-221.
    • (2014) Nature , vol.515 , pp. 216-221
    • Iossifov, I.1    O'Roak, B.J.2    Sanders, S.J.3
  • 9
    • 84912144889 scopus 로고    scopus 로고
    • Synaptic, transcriptional and chromatin genes disrupted in autism
    • PID: 25363760
    • De Rubeis S, He X, Goldberg AP, et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature 2014;515:209-215.
    • (2014) Nature , vol.515 , pp. 209-215
    • De Rubeis, S.1    He, X.2    Goldberg, A.P.3
  • 10
    • 54549086639 scopus 로고    scopus 로고
    • Autism: many genes, common pathways?
    • COI: 1:CAS:528:DC%2BD1cXhtlyqtr%2FK, PID: 18984147
    • Geschwind DH. Autism: many genes, common pathways? Cell 2008;135:391-395.
    • (2008) Cell , vol.135 , pp. 391-395
    • Geschwind, D.H.1
  • 11
    • 84867172514 scopus 로고    scopus 로고
    • Phenotypic heterogeneity of genomic disorders and rare copy-number variants
    • COI: 1:CAS:528:DC%2BC38XhsFWksLrK, PID: 22970919
    • Girirajan S, Rosenfeld JA, Coe BP, et al. Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med 2012;367:1321-1331.
    • (2012) N Engl J Med , vol.367 , pp. 1321-1331
    • Girirajan, S.1    Rosenfeld, J.A.2    Coe, B.P.3
  • 12
    • 84890227659 scopus 로고    scopus 로고
    • The roles of FMRP-regulated genes in autism spectrum disorder: single- and multiple-hit genetic etiologies
    • COI: 1:CAS:528:DC%2BC3sXhs12ksLrF, PID: 24207117
    • Steinberg J, Webber C. The roles of FMRP-regulated genes in autism spectrum disorder: single- and multiple-hit genetic etiologies. Am J Hum Genet 2013;93:825-839.
    • (2013) Am J Hum Genet , vol.93 , pp. 825-839
    • Steinberg, J.1    Webber, C.2
  • 13
    • 84859066832 scopus 로고    scopus 로고
    • Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders
    • COI: 1:CAS:528:DC%2BC38XivVWgsrs%3D, PID: 22346768
    • Leblond CS, Heinrich J, Delorme R, Proepper C, Betancur C, Huguet G. Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. PLoS Genet 2012;8:e1002521.
    • (2012) PLoS Genet , vol.8 , pp. e1002521
    • Leblond, C.S.1    Heinrich, J.2    Delorme, R.3    Proepper, C.4    Betancur, C.5    Huguet, G.6
  • 14
    • 49649100492 scopus 로고    scopus 로고
    • Post-mortem clinical pharmacology
    • COI: 1:STN:280:DC%2BD1cnjsVKjug%3D%3D, PID: 18637886
    • Ferner RE. Post-mortem clinical pharmacology. Br J Clin Pharmacol 2008;66:430-443.
    • (2008) Br J Clin Pharmacol , vol.66 , pp. 430-443
    • Ferner, R.E.1
  • 15
    • 70449705517 scopus 로고    scopus 로고
    • Postmortem brain tissue for drug discovery in psychiatric research
    • PID: 19783604
    • Kim S, Webster MJ. Postmortem brain tissue for drug discovery in psychiatric research. Schizophr Bull 2009;35:1031-1033.
    • (2009) Schizophr Bull , vol.35 , pp. 1031-1033
    • Kim, S.1    Webster, M.J.2
  • 16
    • 77957273984 scopus 로고    scopus 로고
    • Animal models of neuropsychiatric disorders
    • COI: 1:CAS:528:DC%2BC3cXht1Wjt7vJ, PID: 20877280
    • Nestler EJ, Hyman SE. Animal models of neuropsychiatric disorders. Nat Neurosci 2010;13:1161-1169.
    • (2010) Nat Neurosci , vol.13 , pp. 1161-1169
    • Nestler, E.J.1    Hyman, S.E.2
  • 17
    • 33845340757 scopus 로고    scopus 로고
    • Animal models of restricted repetitive behavior in autism
    • PID: 16997392
    • Lewis MH, Tanimura Y, Lee LW, Bodfish JW. Animal models of restricted repetitive behavior in autism. Behav Brain Res 2007;176:66-74.
    • (2007) Behav Brain Res , vol.176 , pp. 66-74
    • Lewis, M.H.1    Tanimura, Y.2    Lee, L.W.3    Bodfish, J.W.4
  • 18
    • 33747195353 scopus 로고    scopus 로고
    • Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors
    • COI: 1:CAS:528:DC%2BD28Xpt1aktbs%3D, PID: 16904174
    • Takahashi K, Yamanaka S. Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors. Cell 2006;126:663-676.
    • (2006) Cell , vol.126 , pp. 663-676
    • Takahashi, K.1    Yamanaka, S.2
  • 19
    • 84870156157 scopus 로고    scopus 로고
    • Medicine. iPSC disease modeling
    • PID: 23197518
    • Soldner F, Jaenisch R. Medicine. iPSC disease modeling. Science 2012;338:1155-1156.
    • (2012) Science , vol.338 , pp. 1155-1156
    • Soldner, F.1    Jaenisch, R.2
  • 20
    • 50549089957 scopus 로고    scopus 로고
    • Disease-specific induced pluripotent stem cells
    • COI: 1:CAS:528:DC%2BD1cXhtFCqs7bK, PID: 18691744
    • Park IH, Arora N, Huo H, et al. Disease-specific induced pluripotent stem cells. Cell 2008;134:877-886.
    • (2008) Cell , vol.134 , pp. 877-886
    • Park, I.H.1    Arora, N.2    Huo, H.3
  • 21
    • 84868198053 scopus 로고    scopus 로고
    • Modeling neurodevelopmental disorders using human neurons
    • COI: 1:CAS:528:DC%2BC38XoslGrtLs%3D, PID: 22717528
    • Chailangkarn T, Acab A, Muotri AR. Modeling neurodevelopmental disorders using human neurons. Curr Opin Neurobiol 2012;22:785-790.
    • (2012) Curr Opin Neurobiol , vol.22 , pp. 785-790
    • Chailangkarn, T.1    Acab, A.2    Muotri, A.R.3
  • 22
    • 84856112882 scopus 로고    scopus 로고
    • Diseases in a dish: modeling human genetic disorders using induced pluripotent cells
    • COI: 1:CAS:528:DC%2BC3MXhsFOitLvM, PID: 22146428
    • Tiscornia G, Vivas EL, Izpisua Belmonte JC. Diseases in a dish: modeling human genetic disorders using induced pluripotent cells. Nat Med 2011;17:1570-1576.
    • (2011) Nat Med , vol.17 , pp. 1570-1576
    • Tiscornia, G.1    Vivas, E.L.2    Izpisua Belmonte, J.C.3
  • 23
    • 67650095306 scopus 로고    scopus 로고
    • Disease-corrected haematopoietic progenitors from Fanconi anaemia induced pluripotent stem cells
    • COI: 1:CAS:528:DC%2BD1MXms1aktLo%3D, PID: 19483674
    • Raya A, Rodriguez-Piza I, Guenechea G, et al. Disease-corrected haematopoietic progenitors from Fanconi anaemia induced pluripotent stem cells. Nature 2009;460:53-59.
    • (2009) Nature , vol.460 , pp. 53-59
    • Raya, A.1    Rodriguez-Piza, I.2    Guenechea, G.3
  • 24
    • 77957729169 scopus 로고    scopus 로고
    • Patient-specific induced pluripotent stem-cell models for long-QT syndrome
    • COI: 1:CAS:528:DC%2BC3cXhtlGks73N, PID: 20660394
    • Moretti A, Bellin M, Welling A, et al. Patient-specific induced pluripotent stem-cell models for long-QT syndrome. N Engl J Med 2010;363:1397-1409.
    • (2010) N Engl J Med , vol.363 , pp. 1397-1409
    • Moretti, A.1    Bellin, M.2    Welling, A.3
  • 25
    • 79952446402 scopus 로고    scopus 로고
    • Modelling the long QT syndrome with induced pluripotent stem cells
    • COI: 1:CAS:528:DC%2BC3MXmsFCqug%3D%3D, PID: 21240260
    • Itzhaki I, Maizels L, Huber I, et al. Modelling the long QT syndrome with induced pluripotent stem cells. Nature 2011;471:225-229.
    • (2011) Nature , vol.471 , pp. 225-229
    • Itzhaki, I.1    Maizels, L.2    Huber, I.3
  • 26
    • 77953443251 scopus 로고    scopus 로고
    • Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome
    • COI: 1:CAS:528:DC%2BC3cXntF2mtro%3D, PID: 20535210
    • Carvajal-Vergara X, Sevilla A, D'Souza SL, et al. Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome. Nature 2010;465:808-812.
    • (2010) Nature , vol.465 , pp. 808-812
    • Carvajal-Vergara, X.1    Sevilla, A.2    D'Souza, S.L.3
  • 27
    • 80155144126 scopus 로고    scopus 로고
    • Induced pluripotent stem cells (iPSCs) and neurological disease modeling: progress and promises
    • COI: 1:CAS:528:DC%2BC3MXhtlyitLzK, PID: 21828073
    • Marchetto MC, Brennand KJ, Boyer LF, Gage FH. Induced pluripotent stem cells (iPSCs) and neurological disease modeling: progress and promises. Hum Mol Genet 2011;20: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
  • 28
    • 50149098605 scopus 로고    scopus 로고
    • Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons
    • COI: 1:CAS:528:DC%2BD1cXhtVGgt7zL, PID: 18669821
    • Dimos JT, Rodolfa KT, Niakan KK, et al. Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons. Science 2008;321:1218-1221.
    • (2008) Science , vol.321 , pp. 1218-1221
    • Dimos, J.T.1    Rodolfa, K.T.2    Niakan, K.K.3
  • 29
    • 61349100729 scopus 로고    scopus 로고
    • Parkinson's disease patient-derived induced pluripotent stem cells free of viral reprogramming factors
    • COI: 1:CAS:528:DC%2BD1MXltFSnsb0%3D, PID: 19269371
    • Soldner F, Hockemeyer D, Beard C, et al. Parkinson's disease patient-derived induced pluripotent stem cells free of viral reprogramming factors. Cell 2009;136:964-977.
    • (2009) Cell , vol.136 , pp. 964-977
    • Soldner, F.1    Hockemeyer, D.2    Beard, C.3
  • 30
    • 84856956771 scopus 로고    scopus 로고
    • Probing sporadic and familial Alzheimer's disease using induced pluripotent stem cells
    • COI: 1:CAS:528:DC%2BC38Xht1ejsrY%3D, PID: 22278060
    • Israel MA, Yuan SH, Bardy C, et al. Probing sporadic and familial Alzheimer's disease using induced pluripotent stem cells. Nature 2012;482:216-220.
    • (2012) Nature , vol.482 , pp. 216-220
    • Israel, M.A.1    Yuan, S.H.2    Bardy, C.3
  • 31
    • 80052225992 scopus 로고    scopus 로고
    • Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients
    • COI: 1:CAS:528:DC%2BC3MXhtVyrs7nL, PID: 21685205
    • Mitne-Neto M, Machado-Costa M, Marchetto MC, et al. Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients. Hum Mol Genet 2011;20:3642-3652.
    • (2011) Hum Mol Genet , vol.20 , pp. 3642-3652
    • Mitne-Neto, M.1    Machado-Costa, M.2    Marchetto, M.C.3
  • 32
    • 84863393846 scopus 로고    scopus 로고
    • Parkin controls dopamine utilization in human midbrain dopaminergic neurons derived from induced pluripotent stem cells
    • PID: 22314364
    • Jiang H, Ren Y, Yuen EY, et al. Parkin controls dopamine utilization in human midbrain dopaminergic neurons derived from induced pluripotent stem cells. Nat Commun 2012;3:668.
    • (2012) Nat Commun , vol.3 , pp. 668
    • Jiang, H.1    Ren, Y.2    Yuen, E.Y.3
  • 33
    • 0026597063 scopus 로고
    • Alzheimer's disease: the amyloid cascade hypothesis
    • COI: 1:CAS:528:DyaK38Xitlarurg%3D, PID: 1566067
    • Hardy JA, Higgins GA. Alzheimer's disease: the amyloid cascade hypothesis. Science 1992;256:184-185.
    • (1992) Science , vol.256 , pp. 184-185
    • Hardy, J.A.1    Higgins, G.A.2
  • 34
    • 0032590054 scopus 로고    scopus 로고
    • Soluble pool of Abeta amyloid as a determinant of severity of neurodegeneration in Alzheimer's disease
    • COI: 1:CAS:528:DC%2BD3cXhsFyrug%3D%3D, PID: 10589538
    • McLean CA, Cherny RA, Fraser FW, et al. Soluble pool of Abeta amyloid as a determinant of severity of neurodegeneration in Alzheimer's disease. Ann Neurol 1999;46:860-866.
    • (1999) Ann Neurol , vol.46 , pp. 860-866
    • McLean, C.A.1    Cherny, R.A.2    Fraser, F.W.3
  • 35
    • 0037135111 scopus 로고    scopus 로고
    • The amyloid hypothesis of Alzheimer's disease: progress and problems on the road to therapeutics
    • COI: 1:CAS:528:DC%2BD38Xls1Cju7s%3D, PID: 12130773
    • Hardy J, Selkoe DJ. The amyloid hypothesis of Alzheimer's disease: progress and problems on the road to therapeutics. Science 2002;297:353-356.
    • (2002) Science , vol.297 , pp. 353-356
    • Hardy, J.1    Selkoe, D.J.2
  • 36
    • 79955884485 scopus 로고    scopus 로고
    • Modelling schizophrenia using human induced pluripotent stem cells
    • COI: 1:CAS:528:DC%2BC3MXkslCmtbk%3D, PID: 21490598
    • Brennand KJ, Simone A, Jou J, et al. Modelling schizophrenia using human induced pluripotent stem cells. Nature 2011;473:221-225.
    • (2011) Nature , vol.473 , pp. 221-225
    • Brennand, K.J.1    Simone, A.2    Jou, J.3
  • 37
    • 84865070766 scopus 로고    scopus 로고
    • Evidence for premature aging due to oxidative stress in iPSCs from Cockayne syndrome
    • COI: 1:CAS:528:DC%2BC38XhtFOktLjP, PID: 22661500
    • Andrade LN, Nathanson JL, Yeo GW, Menck CF, Muotri AR. Evidence for premature aging due to oxidative stress in iPSCs from Cockayne syndrome. Hum Mol Genet 2012;21:3825-3834.
    • (2012) Hum Mol Genet , vol.21 , pp. 3825-3834
    • Andrade, L.N.1    Nathanson, J.L.2    Yeo, G.W.3    Menck, C.F.4    Muotri, A.R.5
  • 38
    • 77956214743 scopus 로고    scopus 로고
    • Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells
    • COI: 1:CAS:528:DC%2BC3cXms1altrg%3D, PID: 20452313
    • Urbach A, Bar-Nur O, Daley GQ, Benvenisty N. Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells. Cell Stem Cell 2010;6:407-411.
    • (2010) Cell Stem Cell , vol.6 , pp. 407-411
    • Urbach, A.1    Bar-Nur, O.2    Daley, G.Q.3    Benvenisty, N.4
  • 39
    • 78149488365 scopus 로고    scopus 로고
    • A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells
    • COI: 1:CAS:528:DC%2BC3cXhsVahtbrE, PID: 21074045
    • Marchetto MC, Carromeu C, Acab A, Yu D, Yeo GW, Mu Y. A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells. Cell 2010;143:527-539.
    • (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
  • 41
    • 79952069900 scopus 로고    scopus 로고
    • The genetics of neurodevelopmental disease
    • COI: 1:CAS:528:DC%2BC3MXjsFChsbg%3D, PID: 20832285
    • Mitchell KJ. The genetics of neurodevelopmental disease. Curr Opin Neurobiol 2011;21:197-203.
    • (2011) Curr Opin Neurobiol , vol.21 , pp. 197-203
    • Mitchell, K.J.1
  • 42
    • 0242300623 scopus 로고    scopus 로고
    • Postnatal neurodevelopmental disorders: meeting at the synapse?
    • COI: 1:CAS:528:DC%2BD3sXos1Cmt7o%3D, PID: 14593168
    • Zoghbi HY. Postnatal neurodevelopmental disorders: meeting at the synapse? Science 2003;302:826-830.
    • (2003) Science , vol.302 , pp. 826-830
    • Zoghbi, H.Y.1
  • 43
    • 0023215296 scopus 로고
    • Implications of normal brain development for the pathogenesis of schizophrenia
    • COI: 1:STN:280:DyaL2s3ntVSksQ%3D%3D, PID: 3606332
    • Weinberger DR. Implications of normal brain development for the pathogenesis of schizophrenia. Arch Gen Psychiatry 1987;44:660-669.
    • (1987) Arch Gen Psychiatry , vol.44 , pp. 660-669
    • Weinberger, D.R.1
  • 44
    • 12344327212 scopus 로고    scopus 로고
    • Schizophrenia genes, gene expression, and neuropathology: on the matter of their convergence
    • COI: 1:CAS:528:DC%2BD2cXhtFeisL3N, PID: 15263907
    • Harrison PJ, Weinberger DR. Schizophrenia genes, gene expression, and neuropathology: on the matter of their convergence. Mol Psychiatry 2005;10:40-68.
    • (2005) Mol Psychiatry , vol.10 , pp. 40-68
    • Harrison, P.J.1    Weinberger, D.R.2
  • 46
    • 84885020424 scopus 로고    scopus 로고
    • Genome-wide association analysis identifies 13 new risk loci for schizophrenia
    • COI: 1:CAS:528:DC%2BC3sXhtlWkur3N, PID: 23974872
    • Ripke S, O'Dushlaine C, Chambert K, et al. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat Genet 2013;45:1150-1159.
    • (2013) Nat Genet , vol.45 , pp. 1150-1159
    • Ripke, S.1    O'Dushlaine, C.2    Chambert, K.3
  • 47
    • 80052273655 scopus 로고    scopus 로고
    • Exome sequencing supports a de novo mutational paradigm for schizophrenia
    • COI: 1:CAS:528:DC%2BC3MXpvVOlu7w%3D, PID: 21822266
    • Xu B, Roos JL, Dexheimer P, et al. Exome sequencing supports a de novo mutational paradigm for schizophrenia. Nat Genet 2011;43:864-868.
    • (2011) Nat Genet , vol.43 , pp. 864-868
    • Xu, B.1    Roos, J.L.2    Dexheimer, P.3
  • 48
    • 0023638471 scopus 로고
    • Is schizophrenia a neurodevelopmental disorder?
    • COI: 1:STN:280:DyaL1c%2Fis1altQ%3D%3D
    • Murray RM, Lewis SW. Is schizophrenia a neurodevelopmental disorder? Br Med J (Clin Res Ed) 1987;295:681-682.
    • (1987) Br Med J (Clin Res Ed) , vol.295 , pp. 681-682
    • Murray, R.M.1    Lewis, S.W.2
  • 49
    • 16344365442 scopus 로고    scopus 로고
    • Developmental pathology, dopamine, and stress: a model for the age of onset of schizophrenia symptoms
    • PID: 15954196
    • Thompson JL, Pogue-Geile MF, Grace AA. Developmental pathology, dopamine, and stress: a model for the age of onset of schizophrenia symptoms. Schizophr Bull 2004;30:875-900.
    • (2004) Schizophr Bull , vol.30 , pp. 875-900
    • Thompson, J.L.1    Pogue-Geile, M.F.2    Grace, A.A.3
  • 50
    • 84870064466 scopus 로고    scopus 로고
    • Neurodevelopmental model of schizophrenia: update 2012
    • COI: 1:STN:280:DC%2BC38rjsFKjtA%3D%3D, PID: 22488257
    • Rapoport JL, Giedd JN, Gogtay N. Neurodevelopmental model of schizophrenia: update 2012. Mol Psychiatry 2012;17:1228-1238.
    • (2012) Mol Psychiatry , vol.17 , pp. 1228-1238
    • Rapoport, J.L.1    Giedd, J.N.2    Gogtay, N.3
  • 51
    • 0032967531 scopus 로고    scopus 로고
    • The reduced neuropil hypothesis: a circuit based model of schizophrenia
    • COI: 1:STN:280:DyaK1M7htF2nsA%3D%3D, PID: 9894571
    • Selemon LD, Goldman-Rakic PS. The reduced neuropil hypothesis: a circuit based model of schizophrenia. Biol Psychiatry 1999;45:17-25.
    • (1999) Biol Psychiatry , vol.45 , pp. 17-25
    • Selemon, L.D.1    Goldman-Rakic, P.S.2
  • 52
    • 77749264406 scopus 로고    scopus 로고
    • Review of pathological hallmarks of schizophrenia: comparison of genetic models with patients and nongenetic models
    • PID: 19903746
    • Jaaro-Peled H, Ayhan Y, Pletnikov MV, Sawa A. Review of pathological hallmarks of schizophrenia: comparison of genetic models with patients and nongenetic models. Schizophr Bull 2010;36:301-313.
    • (2010) Schizophr Bull , vol.36 , pp. 301-313
    • Jaaro-Peled, H.1    Ayhan, Y.2    Pletnikov, M.V.3    Sawa, A.4
  • 53
    • 84856088804 scopus 로고    scopus 로고
    • Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome
    • COI: 1:CAS:528:DC%2BC3MXhsFeit7rF, PID: 22120178
    • Pasca SP, Portmann T, Voineagu I, et al. Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome. Nat Med 2011;17:1657-1662.
    • (2011) Nat Med , vol.17 , pp. 1657-1662
    • Pasca, S.P.1    Portmann, T.2    Voineagu, I.3
  • 54
    • 81455141449 scopus 로고    scopus 로고
    • iPS cells to model CDKL5-related disorders
    • COI: 1:CAS:528:DC%2BC3MXhsV2gsL3E, PID: 21750574
    • Amenduni M, De Filippis R, Cheung AY, et al. iPS cells to model CDKL5-related disorders. Eur J Hum Genet 2011;19:1246-1255.
    • (2011) Eur J Hum Genet , vol.19 , pp. 1246-1255
    • Amenduni, M.1    De Filippis, R.2    Cheung, A.Y.3
  • 55
    • 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
    • COI: 1:CAS:528:DyaK38Xht1ahur4%3D, PID: 1710175
    • Verkerk AJ, Pieretti M, Sutcliffe JS, 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 1991;65:905-914.
    • (1991) Cell , vol.65 , pp. 905-914
    • Verkerk, A.J.1    Pieretti, M.2    Sutcliffe, J.S.3
  • 56
    • 0035675794 scopus 로고    scopus 로고
    • The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders
    • COI: 1:STN:280:DC%2BD38%2FmvV2itQ%3D%3D, PID: 11773805
    • Rogers SJ, Wehner DE, Hagerman R. The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders. J Dev Behav Pediatr 2001;22:409-417.
    • (2001) J Dev Behav Pediatr , vol.22 , pp. 409-417
    • Rogers, S.J.1    Wehner, D.E.2    Hagerman, R.3
  • 57
    • 80455125823 scopus 로고    scopus 로고
    • The role of the postsynaptic density in the pathology of the fragile X syndrome
    • COI: 1:CAS:528:DC%2BC3sXkvVCqtA%3D%3D, PID: 22009348
    • Kindler S, Kreienkamp HJ. The role of the postsynaptic density in the pathology of the fragile X syndrome. Results Probl Cell Differ 2012;54:61-80.
    • (2012) Results Probl Cell Differ , vol.54 , pp. 61-80
    • Kindler, S.1    Kreienkamp, H.J.2
  • 58
    • 53849110899 scopus 로고    scopus 로고
    • Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function
    • COI: 1:CAS:528:DC%2BD1cXhtlCgtrvE, PID: 18957214
    • Bassell GJ, Warren ST. Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function. Neuron 2008;60:201-214.
    • (2008) Neuron , vol.60 , pp. 201-214
    • Bassell, G.J.1    Warren, S.T.2
  • 59
    • 35848937244 scopus 로고    scopus 로고
    • Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos
    • COI: 1:CAS:528:DC%2BD2sXhsVahtrjM, PID: 18371394
    • Eiges R, Urbach A, Malcov M, et al. Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos. Cell Stem Cell 2007;1:568-577.
    • (2007) Cell Stem Cell , vol.1 , pp. 568-577
    • Eiges, R.1    Urbach, A.2    Malcov, M.3
  • 60
    • 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
    • COI: 1:CAS:528:DC%2BC3MXhsVSgsbjO, PID: 22022567
    • Sheridan SD, Theriault KM, Reis SA, et al. Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome. PLoS One 2011;6:e26203.
    • (2011) PLoS One , vol.6 , pp. e26203
    • Sheridan, S.D.1    Theriault, K.M.2    Reis, S.A.3
  • 61
    • 84865064735 scopus 로고    scopus 로고
    • Signaling defects in iPSC-derived fragile X premutation neurons
    • COI: 1:CAS:528:DC%2BC38XhtFOktLvE, PID: 22641815
    • Liu J, Koscielska KA, Cao Z, et al. Signaling defects in iPSC-derived fragile X premutation neurons. Hum Mol Genet 2012;21:3795-3805.
    • (2012) Hum Mol Genet , vol.21 , pp. 3795-3805
    • Liu, J.1    Koscielska, K.A.2    Cao, Z.3
  • 62
    • 84880359647 scopus 로고    scopus 로고
    • Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome
    • COI: 1:CAS:528:DC%2BC3sXhtFWjurjF, PID: 23867198
    • Hagerman R, Hagerman P. Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome. Lancet Neurol 2013;12:786-798.
    • (2013) Lancet Neurol , vol.12 , pp. 786-798
    • Hagerman, R.1    Hagerman, P.2
  • 63
    • 84904608102 scopus 로고    scopus 로고
    • iPSC-derived forebrain neurons from FXS individuals show defects in initial neurite outgrowth
    • COI: 1:CAS:528:DC%2BC2cXht1ahsbzN, PID: 24654675
    • Doers ME, Musser MT, Nichol R, et al. iPSC-derived forebrain neurons from FXS individuals show defects in initial neurite outgrowth. Stem Cells Dev 2014;23:1777-1787.
    • (2014) Stem Cells Dev , vol.23 , pp. 1777-1787
    • Doers, M.E.1    Musser, M.T.2    Nichol, R.3
  • 64
    • 5344223383 scopus 로고    scopus 로고
    • Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
    • COI: 1:CAS:528:DC%2BD2cXotlyqurk%3D, PID: 15454078
    • Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 2004;119:19-31.
    • (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
  • 65
    • 80053064177 scopus 로고    scopus 로고
    • Mouse model of Timothy syndrome recapitulates triad of autistic traits
    • COI: 1:CAS:528:DC%2BC3MXht1KisLvI, PID: 21878566
    • Bader PL, Faizi M, Kim LH, et al. Mouse model of Timothy syndrome recapitulates triad of autistic traits. Proc Natl Acad Sci U S A 2011;108:15432-15437.
    • (2011) Proc Natl Acad Sci U S A , vol.108 , pp. 15432-15437
    • Bader, P.L.1    Faizi, M.2    Kim, L.H.3
  • 66
    • 78650886933 scopus 로고    scopus 로고
    • A big-world network in ASD: dynamical connectivity analysis reflects a deficit in long-range connections and an excess of short-range connections
    • PID: 21110988
    • Barttfeld P, Wicker B, Cukier S, Navarta S, Lew S, Sigman M. A big-world network in ASD: dynamical connectivity analysis reflects a deficit in long-range connections and an excess of short-range connections. Neuropsychologia 2011;49:254-263.
    • (2011) Neuropsychologia , vol.49 , pp. 254-263
    • Barttfeld, P.1    Wicker, B.2    Cukier, S.3    Navarta, S.4    Lew, S.5    Sigman, M.6
  • 67
    • 84873097224 scopus 로고    scopus 로고
    • Timothy syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons
    • COI: 1:CAS:528:DC%2BC3sXnt1SmsA%3D%3D, PID: 23313911
    • Krey JF, Pasca SP, Shcheglovitov A, et al. Timothy syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons. Nat Neurosci 2013;16:201-209.
    • (2013) Nat Neurosci , vol.16 , pp. 201-209
    • Krey, J.F.1    Pasca, S.P.2    Shcheglovitov, A.3
  • 68
    • 0024619007 scopus 로고
    • Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion
    • COI: 1:STN:280:DyaL1M7ptVyisQ%3D%3D, PID: 2564739
    • Knoll JH, Nicholls RD, Magenis RE, Graham JM, Jr., Lalande M, Latt SA. Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am J Med Genet 1989;32:285-290.
    • (1989) Am J Med Genet , vol.32 , pp. 285-290
    • Knoll, J.H.1    Nicholls, R.D.2    Magenis, R.E.3    Graham, J.M.4    Lalande, M.5    Latt, S.A.6
  • 69
    • 0031012849 scopus 로고    scopus 로고
    • UBE3A/E6-AP mutations cause Angelman syndrome
    • COI: 1:CAS:528:DyaK2sXjsFSmsA%3D%3D, PID: 8988171
    • Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 1997;15:70-73.
    • (1997) Nat Genet , vol.15 , pp. 70-73
    • Kishino, T.1    Lalande, M.2    Wagstaff, J.3
  • 70
    • 31044455614 scopus 로고    scopus 로고
    • Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology
    • PID: 16038620
    • Bittel DC, Butler MG. Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology. Expert Rev Mol Med 2005;7:1-20.
    • (2005) Expert Rev Mol Med , vol.7
    • Bittel, D.C.1    Butler, M.G.2
  • 72
    • 78049409366 scopus 로고    scopus 로고
    • Neurobehavioral phenotype in Prader-Willi syndrome
    • PID: 20981773
    • Whittington J, Holland A. Neurobehavioral phenotype in Prader-Willi syndrome. Am J Med Genet C Semin Med Genet 2010;154C:438-447.
    • (2010) Am J Med Genet C Semin Med Genet , vol.154C , pp. 438-447
    • Whittington, J.1    Holland, A.2
  • 73
    • 78049303170 scopus 로고    scopus 로고
    • Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes
    • COI: 1:CAS:528:DC%2BC3cXhtlamtbjE, PID: 20876107
    • Chamberlain SJ, Chen PF, Ng KY, et al. Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes. Proc Natl Acad Sci U S A 2010;107:17668-17673.
    • (2010) Proc Natl Acad Sci U S A , vol.107 , pp. 17668-17673
    • Chamberlain, S.J.1    Chen, P.F.2    Ng, K.Y.3
  • 74
    • 0042828948 scopus 로고    scopus 로고
    • Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms
    • COI: 1:CAS:528:DC%2BD3sXnslGmtrY%3D, PID: 12920066
    • Wilson HL, Wong AC, Shaw SR, et al. Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms. J Med Genet 2003;40:575-584.
    • (2003) J Med Genet , vol.40 , pp. 575-584
    • Wilson, H.L.1    Wong, A.C.2    Shaw, S.R.3
  • 75
    • 84860172447 scopus 로고    scopus 로고
    • The 22q13.3 deletion syndrome (Phelan–McDermid syndrome)
    • COI: 1:CAS:528:DC%2BC38XlvFGiu7s%3D, PID: 22670140
    • Phelan K, McDermid HE. The 22q13.3 deletion syndrome (Phelan–McDermid syndrome). Mol Syndromol 2012;2:186-201.
    • (2012) Mol Syndromol , vol.2 , pp. 186-201
    • Phelan, K.1    McDermid, H.E.2
  • 76
    • 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
    • COI: 1:CAS:528:DyaK1MXltVynurY%3D, PID: 10433268
    • Naisbitt S, Kim E, Tu JC, et al. Shank, a novel family of postsynaptic density proteins that binds to the NMDA receptor/PSD-95/GKAP complex and cortactin. Neuron 1999;23:569-582.
    • (1999) Neuron , vol.23 , pp. 569-582
    • Naisbitt, S.1    Kim, E.2    Tu, J.C.3
  • 77
    • 33845889998 scopus 로고    scopus 로고
    • Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
    • COI: 1:CAS:528:DC%2BD28XhtlGktLvF, PID: 17173049
    • Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, Fauchereau F. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 2007;39:25-27.
    • (2007) Nat Genet , vol.39 , pp. 25-27
    • Durand, C.M.1    Betancur, C.2    Boeckers, T.M.3    Bockmann, J.4    Chaste, P.5    Fauchereau, F.6
  • 78
    • 79960111638 scopus 로고    scopus 로고
    • Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3
    • COI: 1:CAS:528:DC%2BC3MXos1KmsLg%3D, PID: 21558424
    • Wang X, McCoy PA, Rodriguiz RM, et al. Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3. Hum Mol Genet 2011;20:3093-3108.
    • (2011) Hum Mol Genet , vol.20 , pp. 3093-3108
    • Wang, X.1    McCoy, P.A.2    Rodriguiz, R.M.3
  • 79
    • 84887627330 scopus 로고    scopus 로고
    • SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients
    • COI: 1:CAS:528:DC%2BC3sXhslSns7jN, PID: 24132240
    • Shcheglovitov A, Shcheglovitova O, Yazawa M, et al. SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients. Nature 2013;503:267-271.
    • (2013) Nature , vol.503 , pp. 267-271
    • Shcheglovitov, A.1    Shcheglovitova, O.2    Yazawa, M.3
  • 80
    • 0032830639 scopus 로고    scopus 로고
    • Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
    • COI: 1:CAS:528:DyaK1MXmtlOhtbo%3D, PID: 10508514
    • Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999;23:185-188.
    • (1999) Nat Genet , vol.23 , pp. 185-188
    • Amir, R.E.1    Van den Veyver, I.B.2    Wan, M.3    Tran, C.Q.4    Francke, U.5    Zoghbi, H.Y.6
  • 81
    • 0032231726 scopus 로고    scopus 로고
    • A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map
    • COI: 1:CAS:528:DyaK1cXnvFarsrY%3D, PID: 9637791
    • Schanen C, Francke U. A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map. Am J Hum Genet 1998;63:267-269.
    • (1998) Am J Hum Genet , vol.63 , pp. 267-269
    • Schanen, C.1    Francke, U.2
  • 82
    • 0034711147 scopus 로고    scopus 로고
    • Two affected boys in a Rett syndrome family: clinical and molecular findings
    • COI: 1:CAS:528:DC%2BD3cXotVOmtL4%3D, PID: 11071498
    • Villard L, Kpebe A, Cardoso C, Chelly PJ, Tardieu PM, Fontes M. Two affected boys in a Rett syndrome family: clinical and molecular findings. Neurology 2000;55:1188-1193.
    • (2000) Neurology , vol.55 , pp. 1188-1193
    • Villard, L.1    Kpebe, A.2    Cardoso, C.3    Chelly, P.J.4    Tardieu, P.M.5    Fontes, M.6
  • 83
    • 35648978121 scopus 로고    scopus 로고
    • The story of Rett syndrome: from clinic to neurobiology
    • COI: 1:CAS:528:DC%2BD2sXhtlWitrvP, PID: 17988628
    • Chahrour M, Zoghbi HY. The story of Rett syndrome: from clinic to neurobiology. Neuron 2007;56:422-437.
    • (2007) Neuron , vol.56 , pp. 422-437
    • Chahrour, M.1    Zoghbi, H.Y.2
  • 84
    • 33746356840 scopus 로고    scopus 로고
    • Rett syndrome: new clinical and molecular insights
    • COI: 1:CAS:528:DC%2BD28Xnt1ansrs%3D, PID: 16865103
    • Williamson SL, Christodoulou J. Rett syndrome: new clinical and molecular insights. Eur J Hum Genet 2006;14:896-903.
    • (2006) Eur J Hum Genet , vol.14 , pp. 896-903
    • Williamson, S.L.1    Christodoulou, J.2
  • 85
    • 80051558111 scopus 로고    scopus 로고
    • Rett syndrome: exploring the autism link
    • PID: 21825235
    • Percy AK. Rett syndrome: exploring the autism link. Arch Neurol 2011;68:985-989.
    • (2011) Arch Neurol , vol.68 , pp. 985-989
    • Percy, A.K.1
  • 86
    • 0030639079 scopus 로고    scopus 로고
    • Morphological study of neocortical areas in Rett syndrome
    • COI: 1:STN:280:DyaK2s7lvFeitQ%3D%3D, PID: 9006657
    • Belichenko PV, Hagberg B, Dahlstrom A. Morphological study of neocortical areas in Rett syndrome. Acta Neuropathol 1997;93:50-61.
    • (1997) Acta Neuropathol , vol.93 , pp. 50-61
    • Belichenko, P.V.1    Hagberg, B.2    Dahlstrom, A.3
  • 87
    • 0031761177 scopus 로고    scopus 로고
    • Decreased dendritic branching in frontal, motor and limbic cortex in Rett syndrome compared with trisomy 21
    • COI: 1:STN:280:DyaK1M%2FktFeisg%3D%3D, PID: 9825937
    • Armstrong DD, Dunn K, Antalffy B. Decreased dendritic branching in frontal, motor and limbic cortex in Rett syndrome compared with trisomy 21. J Neuropathol Exp Neurol 1998;57:1013-1017.
    • (1998) J Neuropathol Exp Neurol , vol.57 , pp. 1013-1017
    • Armstrong, D.D.1    Dunn, K.2    Antalffy, B.3
  • 88
    • 60749102039 scopus 로고    scopus 로고
    • Non-cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology
    • COI: 1:CAS:528:DC%2BD1MXitFKltrc%3D, PID: 19234456
    • Ballas N, Lioy DT, Grunseich C, Mandel G. Non-cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology. Nat Neurosci 2009;12:311-317.
    • (2009) Nat Neurosci , vol.12 , pp. 311-317
    • Ballas, N.1    Lioy, D.T.2    Grunseich, C.3    Mandel, G.4
  • 89
    • 65549144456 scopus 로고    scopus 로고
    • Rett syndrome astrocytes are abnormal and spread MeCP2 deficiency through gap junctions
    • COI: 1:CAS:528:DC%2BD1MXlsVWhtLg%3D, PID: 19386901
    • Maezawa I, Swanberg S, Harvey D, LaSalle JM, Jin LW. Rett syndrome astrocytes are abnormal and spread MeCP2 deficiency through gap junctions. J Neurosci 2009;29:5051-5061.
    • (2009) J Neurosci , vol.29 , pp. 5051-5061
    • Maezawa, I.1    Swanberg, S.2    Harvey, D.3    LaSalle, J.M.4    Jin, L.W.5
  • 90
    • 79960907896 scopus 로고    scopus 로고
    • A role for glia in the progression of Rett's syndrome
    • COI: 1:CAS:528:DC%2BC3MXotlCltb0%3D, PID: 21716289
    • Lioy DT, Garg SK, Monaghan CE, et al. A role for glia in the progression of Rett's syndrome. Nature 2011;475:497-500.
    • (2011) Nature , vol.475 , pp. 497-500
    • Lioy, D.T.1    Garg, S.K.2    Monaghan, C.E.3
  • 91
    • 84860015853 scopus 로고    scopus 로고
    • Alterations of gene expression and glutamate clearance in astrocytes derived from an MeCP2-null mouse model of Rett syndrome
    • COI: 1:CAS:528:DC%2BC38XmslOksbc%3D, PID: 22532851
    • Okabe Y, Takahashi T, Mitsumasu C, Kosai K, Tanaka E, Matsuishi T. Alterations of gene expression and glutamate clearance in astrocytes derived from an MeCP2-null mouse model of Rett syndrome. PLoS One 2012;7:e35354.
    • (2012) PLoS One , vol.7 , pp. e35354
    • Okabe, Y.1    Takahashi, T.2    Mitsumasu, C.3    Kosai, K.4    Tanaka, E.5    Matsuishi, T.6
  • 92
    • 77951020598 scopus 로고    scopus 로고
    • Rett syndrome microglia damage dendrites and synapses by the elevated release of glutamate
    • COI: 1:CAS:528:DC%2BC3cXlvVagtL4%3D, PID: 20392956
    • Maezawa I, Jin LW. Rett syndrome microglia damage dendrites and synapses by the elevated release of glutamate. J Neurosci 2010;30:5346-5356.
    • (2010) J Neurosci , vol.30 , pp. 5346-5356
    • Maezawa, I.1    Jin, L.W.2
  • 93
    • 84859454582 scopus 로고    scopus 로고
    • Wild-type microglia arrest pathology in a mouse model of Rett syndrome
    • COI: 1:CAS:528:DC%2BC38XktVartrg%3D, PID: 22425995
    • Derecki NC, Cronk JC, Lu Z, et al. Wild-type microglia arrest pathology in a mouse model of Rett syndrome. Nature 2012;484:105-109.
    • (2012) Nature , vol.484 , pp. 105-109
    • Derecki, N.C.1    Cronk, J.C.2    Lu, Z.3
  • 94
    • 84888242980 scopus 로고    scopus 로고
    • Oligodendrocyte lineage cells contribute unique features to Rett syndrome neuropathology
    • COI: 1:CAS:528:DC%2BC3sXhvV2itrbO, PID: 24285883
    • Nguyen MV, Felice CA, Du F, et al. Oligodendrocyte lineage cells contribute unique features to Rett syndrome neuropathology. J Neurosci 2013;33:18764-18774.
    • (2013) J Neurosci , vol.33 , pp. 18764-18774
    • Nguyen, M.V.1    Felice, C.A.2    Du, F.3
  • 95
    • 0035094767 scopus 로고    scopus 로고
    • A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
    • COI: 1:CAS:528:DC%2BD3MXhslOisLc%3D, PID: 11242117
    • Guy J, Hendrich B, Holmes M, Martin JE, Bird A. A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet 2001;27:322-326.
    • (2001) Nat Genet , vol.27 , pp. 322-326
    • Guy, J.1    Hendrich, B.2    Holmes, M.3    Martin, J.E.4    Bird, A.5
  • 96
    • 33847266846 scopus 로고    scopus 로고
    • Reversal of neurological defects in a mouse model of Rett syndrome
    • COI: 1:CAS:528:DC%2BD2sXhvFWrs7s%3D, PID: 17289941
    • Guy J, Gan J, Selfridge J, Cobb S, Bird A. Reversal of neurological defects in a mouse model of Rett syndrome. Science 2007;315:1143-1147.
    • (2007) Science , vol.315 , pp. 1143-1147
    • Guy, J.1    Gan, J.2    Selfridge, J.3    Cobb, S.4    Bird, A.5
  • 97
    • 45849105557 scopus 로고    scopus 로고
    • MeCP2, a key contributor to neurological disease, activates and represses transcription
    • COI: 1:CAS:528:DC%2BD1cXmt1OisrY%3D, PID: 18511691
    • Chahrour M, Jung SY, Shaw C, Zhou X, Wong ST, Qin J. MeCP2, a key contributor to neurological disease, activates and represses transcription. Science 2008;320:1224-1229.
    • (2008) Science , vol.320 , pp. 1224-1229
    • Chahrour, M.1    Jung, S.Y.2    Shaw, C.3    Zhou, X.4    Wong, S.T.5    Qin, J.6
  • 98
    • 76849094693 scopus 로고    scopus 로고
    • Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state
    • COI: 1:CAS:528:DC%2BC3cXlt1KkurY%3D, PID: 20188665
    • Skene PJ, Illingworth RS, Webb S, et al. Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state. Mol Cell 2010;37:457-468.
    • (2010) Mol Cell , vol.37 , pp. 457-468
    • Skene, P.J.1    Illingworth, R.S.2    Webb, S.3
  • 99
    • 0031053586 scopus 로고    scopus 로고
    • Regulation of neuronal survival by the serine-threonine protein kinase Akt
    • COI: 1:CAS:528:DyaK2sXptV2msA%3D%3D, PID: 9005851
    • Dudek H, Datta SR, Franke TF, et al. Regulation of neuronal survival by the serine-threonine protein kinase Akt. Science 1997;275:661-665.
    • (1997) Science , vol.275 , pp. 661-665
    • Dudek, H.1    Datta, S.R.2    Franke, T.F.3
  • 100
    • 0034668766 scopus 로고    scopus 로고
    • Insulin-like growth factor-I promotes neurogenesis and synaptogenesis in the hippocampal dentate gyrus during postnatal development
    • PID: 11069951
    • O'Kusky JR, Ye P, D'Ercole AJ. Insulin-like growth factor-I promotes neurogenesis and synaptogenesis in the hippocampal dentate gyrus during postnatal development. J Neurosci 2000;20:8435-8442.
    • (2000) J Neurosci , vol.20 , pp. 8435-8442
    • O'Kusky, J.R.1    Ye, P.2    D'Ercole, A.J.3
  • 101
  • 102
    • 79955602167 scopus 로고    scopus 로고
    • Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation
    • COI: 1:CAS:528:DC%2BC3MXmtVyqtLY%3D, PID: 21372149
    • Cheung AY, Horvath LM, Grafodatskaya D, et al. Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation. Hum Mol Genet 2011;20:2103-2115.
    • (2011) Hum Mol Genet , vol.20 , pp. 2103-2115
    • Cheung, A.Y.1    Horvath, L.M.2    Grafodatskaya, D.3
  • 103
    • 80052155858 scopus 로고    scopus 로고
    • Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome
    • COI: 1:CAS:528:DC%2BC3MXhtFaqt7rO, PID: 21807996
    • Kim KY, Hysolli E, Park IH. Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome. Proc Natl Acad Sci U S A 2011;108:14169-14174.
    • (2011) Proc Natl Acad Sci U S A , vol.108 , pp. 14169-14174
    • Kim, K.Y.1    Hysolli, E.2    Park, I.H.3
  • 104
    • 84898441524 scopus 로고    scopus 로고
    • Mutant astrocytes differentiated from Rett syndrome patients-specific iPSCs have adverse effects on wild-type neurons
    • COI: 1:CAS:528:DC%2BC2cXnslCqtrk%3D, PID: 24419315
    • Williams EC, Zhong X, Mohamed A, et al. Mutant astrocytes differentiated from Rett syndrome patients-specific iPSCs have adverse effects on wild-type neurons. Hum Mol Genet 2014;23:2968-2980.
    • (2014) Hum Mol Genet , vol.23 , pp. 2968-2980
    • Williams, E.C.1    Zhong, X.2    Mohamed, A.3
  • 105
    • 84874729508 scopus 로고    scopus 로고
    • [Mouse models of autism: a common basis for syndromic and non syndromic autisms ?]
    • (in French)
    • Baudouin SJ. [Mouse models of autism: a common basis for syndromic and non syndromic autisms ?]. Med Sci (Paris) 2013;29:121-123 (in French).
    • (2013) Med Sci (Paris) , vol.29 , pp. 121-123
    • Baudouin, S.J.1
  • 106
    • 40749089626 scopus 로고    scopus 로고
    • Structural variation of chromosomes in autism spectrum disorder
    • COI: 1:CAS:528:DC%2BD1cXit1Sisrs%3D, PID: 18252227
    • Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 2008;82:477-488.
    • (2008) Am J Hum Genet , vol.82 , pp. 477-488
    • Marshall, C.R.1    Noor, A.2    Vincent, J.B.3    Lionel, A.C.4    Feuk, L.5    Skaug, J.6
  • 107
    • 0142059641 scopus 로고    scopus 로고
    • A genomewide screen of 345 families for autism-susceptibility loci
    • COI: 1:CAS:528:DC%2BD3sXotF2hsrc%3D, PID: 13680528
    • Yonan AL, Alarcon M, Cheng R, et al. A genomewide screen of 345 families for autism-susceptibility loci. Am J Hum Genet 2003;73:886-897.
    • (2003) Am J Hum Genet , vol.73 , pp. 886-897
    • Yonan, A.L.1    Alarcon, M.2    Cheng, R.3
  • 108
    • 84860741138 scopus 로고    scopus 로고
    • Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
    • PID: 22495309
    • O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 2012;485:246-250.
    • (2012) Nature , vol.485 , pp. 246-250
    • O'Roak, B.J.1    Vives, L.2    Girirajan, S.3    Karakoc, E.4    Krumm, N.5    Coe, B.P.6
  • 109
    • 42649125261 scopus 로고    scopus 로고
    • Familial deletion within NLGN4 associated with autism and Tourette syndrome
    • COI: 1:CAS:528:DC%2BD1cXltFeitL0%3D, PID: 18231125
    • Lawson-Yuen A, Saldivar JS, Sommer S, Picker J. Familial deletion within NLGN4 associated with autism and Tourette syndrome. Eur J Hum Genet 2008;16:614-618.
    • (2008) Eur J Hum Genet , vol.16 , pp. 614-618
    • Lawson-Yuen, A.1    Saldivar, J.S.2    Sommer, S.3    Picker, J.4
  • 110
    • 0242291090 scopus 로고    scopus 로고
    • Model of autism: increased ratio of excitation/inhibition in key neural systems
    • COI: 1:STN:280:DC%2BD3srivVKnug%3D%3D, PID: 14606691
    • Rubenstein JL, Merzenich MM. Model of autism: increased ratio of excitation/inhibition in key neural systems. Genes Brain Behav 2003;2:255-267.
    • (2003) Genes Brain Behav , vol.2 , pp. 255-267
    • Rubenstein, J.L.1    Merzenich, M.M.2
  • 111
    • 85047695028 scopus 로고    scopus 로고
    • Linkage and association of the glutamate receptor 6 gene with autism
    • COI: 1:CAS:528:DC%2BD38XivV2ltrY%3D, PID: 11920157
    • Jamain S, Betancur C, Quach H, et al. Linkage and association of the glutamate receptor 6 gene with autism. Mol Psychiatry 2002;7:302-310.
    • (2002) Mol Psychiatry , vol.7 , pp. 302-310
    • Jamain, S.1    Betancur, C.2    Quach, H.3
  • 112
    • 54049091941 scopus 로고    scopus 로고
    • Neuroligins and neurexins link synaptic function to cognitive disease
    • PID: 18923512
    • Sudhof TC. Neuroligins and neurexins link synaptic function to cognitive disease. Nature 2008;455:903-911.
    • (2008) Nature , vol.455 , pp. 903-911
    • Sudhof, T.C.1
  • 113
    • 34347359603 scopus 로고    scopus 로고
    • Numb and Numbl are required for maintenance of cadherin-based adhesion and polarity of neural progenitors
    • COI: 1:CAS:528:DC%2BD2sXmvFKmsLY%3D, PID: 17589506
    • Rasin MR, Gazula VR, Breunig JJ, et al. Numb and Numbl are required for maintenance of cadherin-based adhesion and polarity of neural progenitors. Nat Neurosci 2007;10:819-827.
    • (2007) Nat Neurosci , vol.10 , pp. 819-827
    • Rasin, M.R.1    Gazula, V.R.2    Breunig, J.J.3
  • 114
    • 21144457360 scopus 로고    scopus 로고
    • A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation
    • COI: 1:CAS:528:DC%2BD2MXkslOntbw%3D, PID: 15897456
    • Hemara-Wahanui A, Berjukow S, Hope CI, Dearden PK, Wu SB, Wilson-Wheeler J. A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation. Proc Natl Acad Sci USA 2005;102:7553-7558.
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 7553-7558
    • Hemara-Wahanui, A.1    Berjukow, S.2    Hope, C.I.3    Dearden, P.K.4    Wu, S.B.5    Wilson-Wheeler, J.6
  • 115
    • 33846878716 scopus 로고    scopus 로고
    • Molecular mechanisms of autism: a possible role for Ca2+ signaling
    • COI: 1:CAS:528:DC%2BD2sXhvVOqtLs%3D, PID: 17275285
    • Krey JF, Dolmetsch RE. Molecular mechanisms of autism: a possible role for Ca2+ signaling. Curr Opin Neurobiol 2007;17:112-119.
    • (2007) Curr Opin Neurobiol , vol.17 , pp. 112-119
    • Krey, J.F.1    Dolmetsch, R.E.2
  • 116
    • 84947261485 scopus 로고    scopus 로고
    • Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons
    • Griesi-Oliveira K, Acab A, Gupta AR, et al. Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons. Mol Psychiatry 2014 Nov 11.
    • (2014) Mol Psychiatry , pp. 11
    • Griesi-Oliveira, K.1    Acab, A.2    Gupta, A.R.3
  • 117
    • 17244377058 scopus 로고    scopus 로고
    • Essential role of TRPC channels in the guidance of nerve growth cones by brain-derived neurotrophic factor
    • COI: 1:CAS:528:DC%2BD2MXjtFOms7s%3D, PID: 15758952
    • Li Y, Jia YC, Cui K, Li N, Zheng ZY, Wang YZ. Essential role of TRPC channels in the guidance of nerve growth cones by brain-derived neurotrophic factor. Nature 2005;434:894-898.
    • (2005) Nature , vol.434 , pp. 894-898
    • Li, Y.1    Jia, Y.C.2    Cui, K.3    Li, N.4    Zheng, Z.Y.5    Wang, Y.Z.6
  • 118
    • 46049112457 scopus 로고    scopus 로고
    • Critical role of TRPC6 channels in the formation of excitatory synapses
    • COI: 1:CAS:528:DC%2BD1cXns1Onurk%3D, PID: 18516035
    • Zhou J, Du W, Zhou K, Tai Y, Yao H, Jia Y. Critical role of TRPC6 channels in the formation of excitatory synapses. Nat Neurosci 2008;11:741-743.
    • (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
  • 119
    • 84870904477 scopus 로고    scopus 로고
    • Hyperforin modulates dendritic spine morphology in hippocampal pyramidal neurons by activating Ca(2+)-permeable TRPC6 channels
    • PID: 22815087
    • Leuner K, Li W, Amaral MD, Rudolph S, Calfa G, Schuwald AM. Hyperforin modulates dendritic spine morphology in hippocampal pyramidal neurons by activating Ca(2+)-permeable TRPC6 channels. Hippocampus 2012;23:40-52.
    • (2012) Hippocampus , vol.23 , pp. 40-52
    • Leuner, K.1    Li, W.2    Amaral, M.D.3    Rudolph, S.4    Calfa, G.5    Schuwald, A.M.6
  • 120
    • 49649088696 scopus 로고    scopus 로고
    • TRPC6 channels promote dendritic growth via the CaMKIV-CREB pathway
    • COI: 1:CAS:528:DC%2BD1cXpvVKqsbs%3D, PID: 18559891
    • Tai Y, Feng S, Ge R, Du W, Zhang X, He Z. TRPC6 channels promote dendritic growth via the CaMKIV-CREB pathway. J Cell Sci 2008;121:2301-2307.
    • (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
  • 121
    • 84886020200 scopus 로고    scopus 로고
    • TRPC6 channel-mediated neurite outgrowth in PC12 cells and hippocampal neurons involves activation of RAS/MEK/ERK, PI3K, and CAMKIV signaling
    • COI: 1:CAS:528:DC%2BC3sXhs1elur3N, PID: 23875811
    • Heiser JH, Schuwald AM, Sillani G, Ye L, Muller WE, Leuner K. TRPC6 channel-mediated neurite outgrowth in PC12 cells and hippocampal neurons involves activation of RAS/MEK/ERK, PI3K, and CAMKIV signaling. J Neurochem 2013;127:303-313.
    • (2013) J Neurochem , vol.127 , pp. 303-313
    • Heiser, J.H.1    Schuwald, A.M.2    Sillani, G.3    Ye, L.4    Muller, W.E.5    Leuner, K.6
  • 122
    • 84867633471 scopus 로고    scopus 로고
    • Activity-dependent BDNF release and TRPC signaling is impaired in hippocampal neurons of Mecp2 mutant mice
    • COI: 1:CAS:528:DC%2BC38Xhs1WgsLbO, PID: 23027959
    • Li W, Calfa G, Larimore J, Pozzo-Miller L. Activity-dependent BDNF release and TRPC signaling is impaired in hippocampal neurons of Mecp2 mutant mice. Proc Natl Acad Sci USA 2012;109:17087-17092.
    • (2012) Proc Natl Acad Sci USA , vol.109 , pp. 17087-17092
    • Li, W.1    Calfa, G.2    Larimore, J.3    Pozzo-Miller, L.4
  • 123
    • 77956141295 scopus 로고    scopus 로고
    • MeCP2 controls BDNF expression and cocaine intake through homeostatic interactions with microRNA-212
    • COI: 1:CAS:528:DC%2BC3cXhtVaisLzJ, PID: 20711185
    • Im HI, Hollander JA, Bali P, Kenny PJ. MeCP2 controls BDNF expression and cocaine intake through homeostatic interactions with microRNA-212. Nat Neurosci 2010;13:1120-1127.
    • (2010) Nat Neurosci , vol.13 , pp. 1120-1127
    • Im, H.I.1    Hollander, J.A.2    Bali, P.3    Kenny, P.J.4
  • 124
    • 77951014800 scopus 로고    scopus 로고
    • Exogenous brain-derived neurotrophic factor rescues synaptic dysfunction in Mecp2-null mice
    • COI: 1:CAS:528:DC%2BC3cXlvVagt7g%3D, PID: 20392952
    • Kline DD, Ogier M, Kunze DL, Katz DM. Exogenous brain-derived neurotrophic factor rescues synaptic dysfunction in Mecp2-null mice. J Neurosci 2010;30:5303-5310.
    • (2010) J Neurosci , vol.30 , pp. 5303-5310
    • Kline, D.D.1    Ogier, M.2    Kunze, D.L.3    Katz, D.M.4
  • 125
    • 33749590330 scopus 로고    scopus 로고
    • Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturation
    • COI: 1:CAS:528:DC%2BD28Xht1WhtbjM, PID: 17046689
    • Zhou Z, Hong EJ, Cohen S, et al. Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturation. Neuron 2006;52:255-269.
    • (2006) Neuron , vol.52 , pp. 255-269
    • Zhou, Z.1    Hong, E.J.2    Cohen, S.3
  • 126
    • 79952292990 scopus 로고    scopus 로고
    • Cell-surface marker signatures for the isolation of neural stem cells, glia and neurons derived from human pluripotent stem cells
    • COI: 1:CAS:528:DC%2BC3MXjtl2lt70%3D, PID: 21407814
    • Yuan SH, Martin J, Elia J, et al. Cell-surface marker signatures for the isolation of neural stem cells, glia and neurons derived from human pluripotent stem cells. PLoS One 2011;6:e17540.
    • (2011) PLoS One , vol.6 , pp. e17540
    • Yuan, S.H.1    Martin, J.2    Elia, J.3
  • 127
    • 79551685675 scopus 로고    scopus 로고
    • A TALE nuclease architecture for efficient genome editing
    • COI: 1:CAS:528:DC%2BC3cXhs1WisrvI, PID: 21179091
    • Miller JC, Tan S, Qiao G, et al. A TALE nuclease architecture for efficient genome editing. Nat Biotechnol 2011;29:143-148.
    • (2011) Nat Biotechnol , vol.29 , pp. 143-148
    • Miller, J.C.1    Tan, S.2    Qiao, G.3
  • 128
    • 84873734105 scopus 로고    scopus 로고
    • RNA-guided human genome engineering via Cas9
    • COI: 1:CAS:528:DC%2BC3sXit1ygtb0%3D, PID: 23287722
    • Mali P, Yang L, Esvelt KM, et al. RNA-guided human genome engineering via Cas9. Science 2013;339:823-826.
    • (2013) Science , vol.339 , pp. 823-826
    • Mali, P.1    Yang, L.2    Esvelt, K.M.3
  • 131
    • 84863229339 scopus 로고    scopus 로고
    • A human stem cell model of early Alzheimer's disease pathology in Down syndrome
    • PID: 22344463
    • Shi Y, Kirwan P, Smith J, MacLean G, Orkin SH, Livesey FJ. A human stem cell model of early Alzheimer's disease pathology in Down syndrome. Sci Transl Med 2012;4:124ra29.
    • (2012) Sci Transl Med , vol.4 , pp. 124ra29
    • Shi, Y.1    Kirwan, P.2    Smith, J.3    MacLean, G.4    Orkin, S.H.5    Livesey, F.J.6
  • 132
    • 84875543263 scopus 로고    scopus 로고
    • Modeling neurogenesis impairment in Down syndrome with induced pluripotent stem cells from Trisomy 21 amniotic fluid cells
    • COI: 1:CAS:528:DC%2BC38XhsFCns7jN, PID: 23041301
    • Lu HE, Yang YC, Chen SM, et al. Modeling neurogenesis impairment in Down syndrome with induced pluripotent stem cells from Trisomy 21 amniotic fluid cells. Exp Cell Res 2013;319:498-505.
    • (2013) Exp Cell Res , vol.319 , pp. 498-505
    • Lu, H.E.1    Yang, Y.C.2    Chen, S.M.3
  • 133
    • 84878977690 scopus 로고    scopus 로고
    • Deficits in human trisomy 21 iPSCs and neurons
    • COI: 1:CAS:528:DC%2BC3sXhtFOms77K, PID: 23716668
    • Weick JP, Held DL, Bonadurer GF, 3rd, et al. Deficits in human trisomy 21 iPSCs and neurons. Proc Natl Acad Sci U S A 2013;110:9962-9967.
    • (2013) Proc Natl Acad Sci U S A , vol.110 , pp. 9962-9967
    • Weick, J.P.1    Held, D.L.2    Bonadurer, G.F.3
  • 134
    • 84893772144 scopus 로고    scopus 로고
    • Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21
    • COI: 1:CAS:528:DC%2BC2cXitFWktbg%3D, PID: 24375627
    • Hibaoui Y, Grad I, Letourneau A, et al. Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21. EMBO Mol Med 2014;6:259-277.
    • (2014) EMBO Mol Med , vol.6 , pp. 259-277
    • Hibaoui, Y.1    Grad, I.2    Letourneau, A.3
  • 135
    • 84904705701 scopus 로고    scopus 로고
    • Role of astroglia in Down's syndrome revealed by patient-derived human-induced pluripotent stem cells
    • COI: 1:CAS:528:DC%2BC2cXitVaksLjO, PID: 25034944
    • Chen C, Jiang P, Xue H, et al. Role of astroglia in Down's syndrome revealed by patient-derived human-induced pluripotent stem cells. Nat Commun 2014;5:4430.
    • (2014) Nat Commun , vol.5 , pp. 4430
    • Chen, C.1    Jiang, P.2    Xue, H.3
  • 136
    • 78650051022 scopus 로고    scopus 로고
    • Induced pluripotent stem cells can be used to model the genomic imprinting disorder Prader-Willi syndrome
    • Yang J, Cai J, Zhang Y, et al. Induced pluripotent stem cells can be used to model the genomic imprinting disorder Prader-Willi syndrome. J Biol Chem 2010;285:40303-11.
    • (2010) J Biol Chem , vol.285 , pp. 40303-40311
    • Yang, J.1    Cai, J.2    Zhang, Y.3


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