메뉴 건너뛰기




Volumn 3, Issue , 2013, Pages

AKAPs integrate genetic findings for autism spectrum disorders

Author keywords

A kinase anchor proteins; Autism spectrum disorders; Genetics; Genome wide association studies

Indexed keywords

CYCLIC AMP DEPENDENT PROTEIN KINASE ANCHORING PROTEIN; GLUTAMATE RECEPTOR; GLUTAMIC ACID; MICRORNA;

EID: 84879908825     PISSN: None     EISSN: 21583188     Source Type: Journal    
DOI: 10.1038/tp.2013.48     Document Type: Article
Times cited : (62)

References (108)
  • 1
    • 20044390596 scopus 로고    scopus 로고
    • Pervasive developmental disorders in preschool children: Confirmation of high prevalence
    • DOI 10.1176/appi.ajp.162.6.1133
    • Chakrabarti S, Fombonne E. Pervasive developmental disorders in preschool children: confirmation of high prevalence. Am J Psychiatry 2005; 162: 1133-1141. (Pubitemid 40770696)
    • (2005) American Journal of Psychiatry , vol.162 , Issue.6 , pp. 1133-1141
    • Chakrabarti, S.1    Fombonne, E.2
  • 2
    • 33745818375 scopus 로고    scopus 로고
    • Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: The Special Needs and Autism Project (SNAP)
    • DOI 10.1016/S0140-6736(06)69041-7, PII S0140673606690417
    • Baird G, Simonoff E, Pickles A, Chandler S, Loucas T, Meldrum D et al. Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: the Special Needs and Autism Project (SNAP). Lancet 2006; 368: 210-215. (Pubitemid 44037796)
    • (2006) Lancet , vol.368 , Issue.9531 , pp. 210-215
    • Baird, G.1    Simonoff, E.2    Pickles, A.3    Chandler, S.4    Loucas, T.5    Meldrum, D.6    Charman, T.7
  • 3
    • 67049118065 scopus 로고    scopus 로고
    • Epidemiology of pervasive developmental disorders
    • Fombonne E. Epidemiology of pervasive developmental disorders. Pediatr Res 2009; 65: 591-598.
    • (2009) Pediatr Res , vol.65 , pp. 591-598
    • Fombonne, E.1
  • 4
    • 0141528477 scopus 로고    scopus 로고
    • Autism
    • DOI 10.1016/S0140-6736(03)14471-6
    • Volkmar FR, Pauls D. Autism. Lancet 2003; 362: 1133-1141. (Pubitemid 37222341)
    • (2003) Lancet , vol.362 , Issue.9390 , pp. 1133-1141
    • Volkmar, F.R.1    Pauls, D.2
  • 7
    • 33845797961 scopus 로고    scopus 로고
    • The genetics of autistic disorders and its clinical relevance: A review of the literature
    • DOI 10.1038/sj.mp.4001896, PII 4001896
    • Freitag CM. The genetics of autistic disorders and its clinical relevance: a review of the literature. Mol Psychiatry 2007; 12: 2-22. (Pubitemid 44973659)
    • (2007) Molecular Psychiatry , vol.12 , Issue.1 , pp. 2-22
    • Freitag, C.M.1
  • 8
    • 42349095075 scopus 로고    scopus 로고
    • Advances in autism genetics: On the threshold of a new neurobiology
    • DOI 10.1038/nrg2346, PII NRG2346
    • Abrahams BS, Geschwind DH. Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet 2008; 9: 341-355. (Pubitemid 351556064)
    • (2008) Nature Reviews Genetics , vol.9 , Issue.5 , pp. 341-355
    • Abrahams, B.S.1    Geschwind, D.H.2
  • 10
    • 79952313620 scopus 로고    scopus 로고
    • Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting
    • Betancur C. Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res 2011; 1380: 42-77.
    • (2011) Brain Res , vol.1380 , pp. 42-77
    • Betancur, C.1
  • 11
    • 67349112868 scopus 로고    scopus 로고
    • Common genetic variants on 5p14.1 associate with autism spectrum disorders
    • Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS et al. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 2009; 459: 528-533.
    • (2009) Nature , vol.459 , pp. 528-533
    • Wang, K.1    Zhang, H.2    Ma, D.3    Bucan, M.4    Glessner, J.T.5    Abrahams, B.S.6
  • 13
    • 70349956425 scopus 로고    scopus 로고
    • A genome-wide linkage and association scan reveals novel loci for autism
    • Weiss LA, Arking DE, Brune CW, West K, O'Connor A, Hilton G et al. A genome-wide linkage and association scan reveals novel loci for autism. Nature 2009; 461: 802-808.
    • (2009) Nature , vol.461 , pp. 802-808
    • Weiss, L.A.1    Arking, D.E.2    Brune, C.W.3    West, K.4    O'Connor, A.5    Hilton, G.6
  • 15
    • 79960938123 scopus 로고    scopus 로고
    • A noisereduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism
    • Hussman JP, Chung RH, Griswold AJ, Jaworski JM, Salyakina D, Ma D et al. A noisereduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism. Mol Autism 2011; 2: 1.
    • (2011) Mol Autism , vol.2 , pp. 1
    • Hussman, J.P.1    Chung, R.H.2    Griswold, A.J.3    Jaworski, J.M.4    Salyakina, D.5    Ma, D.6
  • 18
    • 66349107637 scopus 로고    scopus 로고
    • Feasibility and relevance of examining lymphoblastoid cell lines to study role of microRNAs in autism
    • Talebizadeh Z, Butler MG, Theodoro MF. Feasibility and relevance of examining lymphoblastoid cell lines to study role of microRNAs in autism. Autism Res 2008; 1: 240-250.
    • (2008) Autism Res , vol.1 , pp. 240-250
    • Talebizadeh, Z.1    Butler, M.G.2    Theodoro, M.F.3
  • 19
    • 78751689926 scopus 로고    scopus 로고
    • Investigation of post-transcriptional gene regulatory networks associated with autism spectrum disorders by microRNA expression profiling of lymphoblastoid cell lines
    • Sarachana T, Zhou R, Chen G, Manji HK, Hu VW. Investigation of post-transcriptional gene regulatory networks associated with autism spectrum disorders by microRNA expression profiling of lymphoblastoid cell lines. Genome Med 2010; 2: 23.
    • (2010) Genome Med , vol.2 , pp. 23
    • Sarachana, T.1    Zhou, R.2    Chen, G.3    Manji, H.K.4    Hu, V.W.5
  • 21
    • 67651213461 scopus 로고    scopus 로고
    • Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome
    • Chakrabarti B, Dudbridge F, Kent L, Wheelwright S, Hill-Cawthorne G, Allison C et al. Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome. Autism Res 2009; 2: 157-177.
    • (2009) Autism Res , vol.2 , pp. 157-177
    • Chakrabarti, B.1    Dudbridge, F.2    Kent, L.3    Wheelwright, S.4    Hill-Cawthorne, G.5    Allison, C.6
  • 22
    • 66349087284 scopus 로고    scopus 로고
    • Gene expression profiling of lymphoblasts from autistic and nonaffected sib pairs: Altered pathways in neuronal development and steroid biosynthesis
    • Hu VW, Nguyen A, Kim KS, Steinberg ME, Sarachana T, Scully MA et al. Gene expression profiling of lymphoblasts from autistic and nonaffected sib pairs: altered pathways in neuronal development and steroid biosynthesis. PLoS One 2009; 4: e5775.
    • (2009) PLoS One , vol.4
    • Hu, V.W.1    Nguyen, A.2    Kim, K.S.3    Steinberg, M.E.4    Sarachana, T.5    Scully, M.A.6
  • 23
    • 79960837617 scopus 로고    scopus 로고
    • Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia
    • Piton A, Gauthier J, Hamdan FF, Lafrenière RG, Yang Y, Henrion E et al. Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. Mol Psychiatry 2011; 16: 867-880.
    • (2011) Mol Psychiatry , vol.16 , pp. 867-880
    • Piton, A.1    Gauthier, J.2    Hamdan, F.F.3    Lafrenière, R.G.4    Yang, Y.5    Henrion, E.6
  • 24
    • 65449139457 scopus 로고    scopus 로고
    • Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder
    • Cuscó I, Medrano A, Gener B, Vilardell M, Gallastegui F, Villa O et al. Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder. Hum Mol Genet 2009; 18: 1795-1804.
    • (2009) Hum Mol Genet , vol.18 , pp. 1795-1804
    • Cuscó, I.1    Medrano, A.2    Gener, B.3    Vilardell, M.4    Gallastegui, F.5    Villa, O.6
  • 25
    • 79958035893 scopus 로고    scopus 로고
    • Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses
    • Gilman SR, Iossifov I, Levy D, Ronemus M, Wigler M, Vitkup D. Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses. Neuron 2011; 70: 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
  • 27
    • 65249098921 scopus 로고    scopus 로고
    • Orientation, distance, regulation and function of neighbouring genes
    • Gherman A, Wang R, Avramopoulos D. Orientation, distance, regulation and function of neighbouring genes. Hum Genomics 2009; 3: 143-156.
    • (2009) Hum Genomics , vol.3 , pp. 143-156
    • Gherman, A.1    Wang, R.2    Avramopoulos, D.3
  • 28
    • 77950460661 scopus 로고    scopus 로고
    • Understanding mechanisms underlying human gene expression variation with RNA sequencing
    • Pickrell JK, Marioni JC, Pai AA, Degner JF, Engelhardt BE, Nkadori E et al. Understanding mechanisms underlying human gene expression variation with RNA sequencing. Nature 2010; 464: 768-772.
    • (2010) Nature , vol.464 , pp. 768-772
    • Pickrell, J.K.1    Marioni, J.C.2    Pai, A.A.3    Degner, J.F.4    Engelhardt, B.E.5    Nkadori, E.6
  • 29
    • 77951439152 scopus 로고    scopus 로고
    • Trait-associated SNPs are more likely to be eQTLs: Annotation to enhance discovery from GWAS
    • Nicolae DL, Gamazon E, Zhang W, Duan S, Dolan ME, Cox NJ. Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS. PLoS Genet 2010; 6: e1000888.
    • (2010) PLoS Genet , vol.6
    • Nicolae, D.L.1    Gamazon, E.2    Zhang, W.3    Duan, S.4    Dolan, M.E.5    Cox, N.J.6
  • 30
    • 79957589237 scopus 로고    scopus 로고
    • Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
    • O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet 2011; 43: 585-589.
    • (2011) Nat Genet , vol.43 , pp. 585-589
    • O'Roak, B.J.1    Deriziotis, P.2    Lee, C.3    Vives, L.4    Schwartz, J.J.5    Girirajan, S.6
  • 31
    • 84860780495 scopus 로고    scopus 로고
    • De novo mutations revealed by whole-exome sequencing are strongly associated with autism
    • Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ,Willsey AJ et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 2012; 485: 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 Mjwillsey, A.J.5
  • 32
    • 84860712363 scopus 로고    scopus 로고
    • Patterns and rates of exonic de novo mutations in autism spectrum disorders
    • Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 2012; 485: 242-245.
    • (2012) Nature , vol.485 , pp. 242-245
    • Neale, B.M.1    Kou, Y.2    Liu, L.3    Ma'Ayan, A.4    Samocha, K.E.5    Sabo, A.6
  • 33
    • 84860741138 scopus 로고    scopus 로고
    • Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
    • O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP et al. 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
  • 35
    • 77956225035 scopus 로고    scopus 로고
    • Normal variation in frontooccipital circuitry and cerebellar structure with an autism-associated polymorphism of CNTNAP2
    • Tan GC, Doke TF, Ashburner J, Wood NW, Frackowiak RS. Normal variation in frontooccipital circuitry and cerebellar structure with an autism-associated polymorphism of CNTNAP2. Neuroimage 2010; 53: 1030-1042.
    • (2010) Neuroimage , vol.53 , pp. 1030-1042
    • Tan, G.C.1    Doke, T.F.2    Ashburner, J.3    Wood, N.W.4    Frackowiak, R.S.5
  • 40
    • 67349182343 scopus 로고    scopus 로고
    • Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
    • Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S et al. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 2009; 459: 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
  • 41
    • 67649584052 scopus 로고    scopus 로고
    • Gene ontology analysis of GWA study data sets provides insights into the biology of bipolar disorder
    • Holmans P, Green EK, Pahwa JS, Ferreira MA, Purcell SM, Sklar P et al. Gene ontology analysis of GWA study data sets provides insights into the biology of bipolar disorder. Am J Hum Genet 2009; 85: 13-24.
    • (2009) Am J Hum Genet , vol.85 , pp. 13-24
    • Holmans, P.1    Green, E.K.2    Pahwa, J.S.3    Ferreira, M.A.4    Purcell, S.M.5    Sklar, P.6
  • 43
    • 77957947562 scopus 로고    scopus 로고
    • Hundreds of variants clustered in genomic loci and biological pathways affect human height
    • Lango Allen H, Estrada K, Lettre G, Berndt SI, Weedon MN, Rivadeneira F et al. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 2010; 467: 832-838.
    • (2010) Nature , vol.467 , pp. 832-838
    • Lango Allen, H.1    Estrada, K.2    Lettre, G.3    Berndt, S.I.4    Weedon, M.N.5    Rivadeneira, F.6
  • 44
    • 84862777863 scopus 로고    scopus 로고
    • Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs
    • Lee SH, Decandia TR, Ripke S, Yang J, Sullivan PF, Goddard ME et al. Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs. Nat Genet 2012; 44: 247-250.
    • (2012) Nat Genet , vol.44 , pp. 247-250
    • Lee, S.H.1    Decandia, T.R.2    Ripke, S.3    Yang, J.4    Sullivan, P.F.5    Goddard, M.E.6
  • 45
    • 77956391388 scopus 로고    scopus 로고
    • Foetal testosterone and autistic traits in 18 to 24-month-old children
    • Auyeung B, Taylor K, Hackett G, Baron-Cohen S. Foetal testosterone and autistic traits in 18 to 24-month-old children. Mol Autism 2010; 1: 11.
    • (2010) Mol Autism , vol.1 , pp. 11
    • Auyeung, B.1    Taylor, K.2    Hackett, G.3    Baron-Cohen, S.4
  • 47
    • 82655175804 scopus 로고    scopus 로고
    • Inter-regional brain communication and its disturbance in autism
    • Schipul SE, Keller TA, Just MA. Inter-regional brain communication and its disturbance in autism. Front Syst Neurosci 2011; 5: 10.
    • (2011) Front Syst Neurosci , vol.5 , pp. 10
    • Schipul, S.E.1    Keller, T.A.2    Just, M.A.3
  • 48
    • 79551556509 scopus 로고    scopus 로고
    • Relationships between gene expression and brain wiring in the adult rodent brain
    • French L, Pavlidis P. Relationships between gene expression and brain wiring in the adult rodent brain. PLoS Comput Biol 2011; 7: e1001049.
    • (2011) PLoS Comput Biol , vol.7
    • French, L.1    Pavlidis, P.2
  • 49
    • 79953065216 scopus 로고    scopus 로고
    • A theoretical molecular network for dyslexia: Integrating available genetic findings
    • Poelmans G, Buitelaar JK, Pauls DL, Franke B. A theoretical molecular network for dyslexia: integrating available genetic findings. Mol Psychiatry 2011; 16: 365-382.
    • (2011) Mol Psychiatry , vol.16 , pp. 365-382
    • Poelmans, G.1    Buitelaar, J.K.2    Pauls, D.L.3    Franke, B.4
  • 50
    • 79955135758 scopus 로고    scopus 로고
    • Integrated genome-wide association study findings: Identification of a neurodevelopmental network for attention deficit hyperactivity disorder
    • Poelmans G, Pauls DL, Buitelaar JK, Franke B. Integrated genome-wide association study findings: identification of a neurodevelopmental network for attention deficit hyperactivity disorder. Am J Psychiatry 2011; 168: 365-377.
    • (2011) Am J Psychiatry , vol.168 , pp. 365-377
    • Poelmans, G.1    Pauls, D.L.2    Buitelaar, J.K.3    Franke, B.4
  • 52
    • 72149111407 scopus 로고    scopus 로고
    • Reading and arithmetic in adolescents with autism spectrum disorders: Peaks and dips in attainment
    • Jones CR, Happé F, Golden H, Marsden AJ, Tregay J, Simonoff E et al. Reading and arithmetic in adolescents with autism spectrum disorders: peaks and dips in attainment. Neuropsychology 2009; 23: 718-728.
    • (2009) Neuropsychology , vol.23 , pp. 718-728
    • Jones, C.R.1    Happé, F.2    Golden, H.3    Marsden, A.J.4    Tregay, J.5    Simonoff, E.6
  • 53
    • 77953357897 scopus 로고    scopus 로고
    • Basic reading skills in Swedish children with late developing language and with or without autism spectrum disorder or ADHD
    • Miniscalco C, Dahlgren SA. Basic reading skills in Swedish children with late developing language and with or without autism spectrum disorder or ADHD. Res Dev Disabil 2010; 31: 1054-1061.
    • (2010) Res Dev Disabil , vol.31 , pp. 1054-1061
    • Miniscalco, C.1    Dahlgren, S.A.2
  • 56
    • 79955145012 scopus 로고    scopus 로고
    • Maternally derived microduplications at 15q11-q13: Implication of imprinted genes in psychotic illness
    • Ingason A, Kirov G, Giegling I, Hansen T, Isles AR, Jakobsen KD et al. Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness. Am J Psychiatry 2011; 168: 408-417.
    • (2011) Am J Psychiatry , vol.168 , pp. 408-417
    • Ingason, A.1    Kirov, G.2    Giegling, I.3    Hansen, T.4    Isles, A.R.5    Jakobsen, K.D.6
  • 57
    • 69249229837 scopus 로고    scopus 로고
    • Density of cerebellar basket and stellate cells in autism: Evidence for a late developmental loss of Purkinje cells
    • Whitney ER, Kemper TL, Rosene DL, Bauman ML, Blatt GJ. Density of cerebellar basket and stellate cells in autism: evidence for a late developmental loss of Purkinje cells. J Neurosci Res 2009; 87: 2245-2254.
    • (2009) J Neurosci Res , vol.87 , pp. 2245-2254
    • Whitney, E.R.1    Kemper, T.L.2    Rosene, D.L.3    Bauman, M.L.4    Blatt, G.J.5
  • 58
    • 75749156601 scopus 로고    scopus 로고
    • Repetitive behavior and increased activity in mice with Purkinje cell loss: A model for understanding the role of cerebellar pathology in autism
    • Martin LA, Goldowitz D, Mittleman G. Repetitive behavior and increased activity in mice with Purkinje cell loss: a model for understanding the role of cerebellar pathology in autism. Eur J Neurosci 2010; 31: 544-555.
    • (2010) Eur J Neurosci , vol.31 , pp. 544-555
    • Martin, L.A.1    Goldowitz, D.2    Mittleman, G.3
  • 61
    • 80052536392 scopus 로고    scopus 로고
    • RNA-Seq of human neurons derived from iPS cells reveals candidate long non-coding RNAs involved in neurogenesis and neuropsychiatric disorders
    • Lin M, Pedrosa E, Shah A, Hrabovsky A, Maqbool S, Zheng D et al. RNA-Seq of human neurons derived from iPS cells reveals candidate long non-coding RNAs involved in neurogenesis and neuropsychiatric disorders. PLoS One 2011; 6: e23356.
    • (2011) PLoS One , vol.6
    • Lin, M.1    Pedrosa, E.2    Shah, A.3    Hrabovsky, A.4    Maqbool, S.5    Zheng, D.6
  • 62
    • 84860879137 scopus 로고    scopus 로고
    • A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder
    • Casey JP, Magalhaes T, Conroy JM, Regan R, Shah N, Anney R et al. A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Hum Genet 2012; 131: 565-579.
    • (2012) Hum Genet , vol.131 , pp. 565-579
    • Casey, J.P.1    Magalhaes, T.2    Conroy, J.M.3    Regan, R.4    Shah, N.5    Anney, R.6
  • 63
    • 84864506652 scopus 로고    scopus 로고
    • Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder associated pathways
    • Griswold AJ, Ma D, Cukier HN, Nations LD, Schmidt MA, Chung RH et al. Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder associated pathways. Hum Mol Genet 2012; 21: 3513-3523.
    • (2012) Hum Mol Genet , vol.21 , pp. 3513-3523
    • Griswold, A.J.1    Ma, D.2    Cukier, H.N.3    Nations, L.D.4    Schmidt, M.A.5    Chung, R.H.6
  • 64
    • 79958074870 scopus 로고    scopus 로고
    • Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism
    • Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 2011; 70: 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
  • 66
    • 84883171661 scopus 로고    scopus 로고
    • A discovery resource of rare copy number variations in individuals with autism spectrum disorder
    • Prasad A, Merico D, Thiruvahindrapuram B, Wei J, Lionel AC, Sato D et al. A discovery resource of rare copy number variations in individuals with autism spectrum disorder. G3 (Bethesda) 2012; 2: 1665-1685.
    • (2012) G3 (Bethesda) , vol.2 , pp. 1665-1685
    • Prasad, A.1    Merico, D.2    Thiruvahindrapuram, B.3    Wei, J.4    Lionel, A.C.5    Sato, D.6
  • 67
    • 78649634946 scopus 로고    scopus 로고
    • Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders
    • Rosenfeld JA, Ballif BC, Torchia BS, Sahoo T, Ravnan JB, Schultz R et al. Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders. Genet Med 2010; 12: 694-702.
    • (2010) Genet Med , vol.12 , pp. 694-702
    • Rosenfeld, J.A.1    Ballif, B.C.2    Torchia, B.S.3    Sahoo, T.4    Ravnan, J.B.5    Schultz, R.6
  • 70
    • 77954657070 scopus 로고    scopus 로고
    • Functional impact of global rare copy number variation in autism spectrum disorders
    • Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010; 466: 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
  • 72
    • 80054957107 scopus 로고    scopus 로고
    • Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE
    • Celestino-Soper PB, Shaw CA, Sanders SJ, Li J, Murtha MT, Ercan-Sencicek AG et al. Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. Hum Mol Genet 2011; 20: 4360-4370.
    • (2011) Hum Mol Genet , vol.20 , pp. 4360-4370
    • Celestino-Soper, P.B.1    Shaw, C.A.2    Sanders, S.J.3    Li, J.4    Murtha, M.T.5    Ercan-Sencicek, A.G.6
  • 73
    • 77952540353 scopus 로고    scopus 로고
    • SCAMP5, NBEA and AMISYN: Three candidate genes for autism involved in secretion of large dense-core vesicles
    • Castermans D, Volders K, Crepel A, Backx L, De Vos R, Freson K et al. SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles. Hum Mol Genet 2010; 19: 1368-1378.
    • (2010) Hum Mol Genet , vol.19 , pp. 1368-1378
    • Castermans, D.1    Volders, K.2    Crepel, A.3    Backx, L.4    De Vos, R.5    Freson, K.6
  • 75
    • 79959262465 scopus 로고    scopus 로고
    • Transcriptomic analysis of autistic brain reveals convergent molecular pathology
    • Voineagu I, Wang X, Johnston P, Lowe JK, Tian Y, Horvath S et al. Transcriptomic analysis of autistic brain reveals convergent molecular pathology. Nature 2011; 474: 380-384.
    • (2011) Nature , vol.474 , pp. 380-384
    • Voineagu, I.1    Wang, X.2    Johnston, P.3    Lowe, J.K.4    Tian, Y.5    Horvath, S.6
  • 76
    • 9444279010 scopus 로고    scopus 로고
    • Depletion of MAP2 expression and laminar cytoarchitectonic changes in dorsolateral prefrontal cortex in adult autistic individuals
    • DOI 10.1111/j.1365-2990.2004.00574.x
    • Mukaetova-Ladinska EB, Arnold H, Jaros E, Perry R, Perry E. Depletion of MAP2 expression and laminar cytoarchitectonic changes in dorsolateral prefrontal cortex in adult autistic individuals. Neuropathol Appl Neurobiol 2004; 30: 615-623. (Pubitemid 39564181)
    • (2004) Neuropathology and Applied Neurobiology , vol.30 , Issue.6 , pp. 615-623
    • Mukaetova-Ladinska, E.B.1    Arnold, H.2    Jaros, E.3    Perry, R.4    Perry, E.5
  • 77
    • 49749109890 scopus 로고    scopus 로고
    • Gene expression profiles following exposure to a developmental neurotoxicant, Aroclor 1254: Pathway analysis for possible mode(s) of action
    • Royland JE, Kodavanti PR. Gene expression profiles following exposure to a developmental neurotoxicant, Aroclor 1254: pathway analysis for possible mode(s) of action. Toxicol Appl Pharmacol 2008; 231: 179-196.
    • (2008) Toxicol Appl Pharmacol , vol.231 , pp. 179-196
    • Royland, J.E.1    Kodavanti, P.R.2
  • 78
    • 77957955660 scopus 로고    scopus 로고
    • Perinatal exposure to polychlorinated biphenyls alters social behaviors in rats
    • Jolous-Jamshidi B, Cromwell HC, McFarland AM, Meserve LA. Perinatal exposure to polychlorinated biphenyls alters social behaviors in rats. Toxicol Lett 2010; 199: 136-143.
    • (2010) Toxicol Lett , vol.199 , pp. 136-143
    • Jolous-Jamshidi, B.1    Cromwell, H.C.2    McFarland, A.M.3    Meserve, L.A.4
  • 79
    • 84872821207 scopus 로고    scopus 로고
    • Haploinsufficiency of the autism candidate gene Neurobeachin induces autism-like behaviors and affects cellular and molecular processes of synaptic plasticity in mice
    • Nuytens K, Gantois I, Stijnen P, Iscru E, Laeremans A, Serneels L et al. Haploinsufficiency of the autism candidate gene Neurobeachin induces autism-like behaviors and affects cellular and molecular processes of synaptic plasticity in mice. Neurobiol Dis 2012; 51: 144-151.
    • (2012) Neurobiol Dis , vol.51 , pp. 144-151
    • Nuytens, K.1    Gantois, I.2    Stijnen, P.3    Iscru, E.4    Laeremans, A.5    Serneels, L.6
  • 80
    • 79955694024 scopus 로고    scopus 로고
    • Novel autism subtype-dependent genetic variants are revealed by quantitative trait and subphenotype association analyses of published GWAS data
    • Hu VW, Addington A, Hyman A. Novel autism subtype-dependent genetic variants are revealed by quantitative trait and subphenotype association analyses of published GWAS data. PLoS One 2011; 6: e19067.
    • (2011) PLoS One , vol.6
    • Hu, V.W.1    Addington, A.2    Hyman, A.3
  • 81
    • 78349233542 scopus 로고    scopus 로고
    • Association between a high-risk autism locus on 5p14 and social communication spectrum phenotypes in the general population
    • St Pourcain B, Wang K, Glessner JT, Golding J, Steer C, Ring SM et al. Association between a high-risk autism locus on 5p14 and social communication spectrum phenotypes in the general population. Am J Psychiatry 2010; 167: 1364-1372.
    • (2010) Am J Psychiatry , vol.167 , pp. 1364-1372
    • St Pourcain, B.1    Wang, K.2    Glessner, J.T.3    Golding, J.4    Steer, C.5    Ring, S.M.6
  • 82
    • 0027979505 scopus 로고
    • Structure and localization on the X chromosome of the gene coding for the human filopodial protein moesin (MSN)
    • DOI 10.1006/geno.1994.1065
    • Wilgenbus KK, Hsieh CL, Lankes WT, Milatovich A, Francke U, Furthmayr H. Structure and localization on the X chromosome of the gene coding for the human filopodial protein moesin (MSN). Genomics 1994; 19: 326-333. (Pubitemid 24059325)
    • (1994) Genomics , vol.19 , Issue.2 , pp. 326-333
    • Wilgenbus, K.K.1    Hsieh, C.-L.2    Lankes, W.T.3    Milatovich, A.4    Francke, U.5    Furthmayr, H.6
  • 84
    • 79953172892 scopus 로고    scopus 로고
    • Distinct protein kinase a anchoring proteins direct prostaglandin E2 modulation of toll-like receptor signaling in alveolar macrophages
    • Kim SH, Serezani CH, Okunishi K, Zaslona Z, Aronoff DM, Peters-Golden M. Distinct protein kinase a anchoring proteins direct prostaglandin E2 modulation of toll-like receptor signaling in alveolar macrophages. J Biol Chem 2011; 286: 8875-8883.
    • (2011) J Biol Chem , vol.286 , pp. 8875-8883
    • Kim, S.H.1    Serezani, C.H.2    Okunishi, K.3    Zaslona, Z.4    Aronoff, D.M.5    Peters-Golden, M.6
  • 87
    • 58549083388 scopus 로고    scopus 로고
    • Impact of innate immunity in a subset of children with autism spectrum disorders: A case control study
    • Jyonouchi H, Geng L, Cushing-Ruby A, Quraishi H. Impact of innate immunity in a subset of children with autism spectrum disorders: a case control study. J Neuroinflammation 2008; 5: 52.
    • (2008) J Neuroinflammation , vol.5 , pp. 52
    • Jyonouchi, H.1    Geng, L.2    Cushing-Ruby, A.3    Quraishi, H.4
  • 88
    • 77956184652 scopus 로고    scopus 로고
    • Adaptive and innate immune responses in autism: Rationale for therapeutic use of intravenous immunoglobulin
    • Gupta S, Samra D, Agrawal S. Adaptive and innate immune responses in autism: rationale for therapeutic use of intravenous immunoglobulin. J Clin Immunol 2010; 30: S90-S96.
    • (2010) J Clin Immunol , vol.30
    • Gupta, S.1    Samra, D.2    Agrawal, S.3
  • 89
    • 0036456007 scopus 로고    scopus 로고
    • Distribution of regulatory subunits of protein kinase A and A kinase anchor proteins (AKAP 95, 150) in rat pinealocytes
    • DOI 10.1007/s00441-002-0633-9
    • Koch M, Korf HW. Distribution of regulatory subunits of protein kinase A and A kinase anchor proteins (AKAP 95, 150) in rat pinealocytes. Cell Tissue Res 2002; 310: 331-338. (Pubitemid 35435777)
    • (2002) Cell and Tissue Research , vol.310 , Issue.3 , pp. 331-338
    • Koch, M.1    Korf, H.-W.2
  • 91
    • 75649107225 scopus 로고    scopus 로고
    • Novel and emerging treatments for autism spectrum disorders: A systematic review
    • Rossignol DA. Novel and emerging treatments for autism spectrum disorders: a systematic review. Ann Clin Psychiatry 2009; 21: 213-236.
    • (2009) Ann Clin Psychiatry , vol.21 , pp. 213-236
    • Rossignol, D.A.1
  • 92
    • 1542267750 scopus 로고    scopus 로고
    • The Two Regulatory Subunits of Aplysia cAMP-Dependent Protein Kinase Mediate Distinct Functions in Producing Synaptic Plasticity
    • DOI 10.1523/JNEUROSCI.4331-03.2004
    • Liu J, Hu JY, Schacher S, Schwartz JH. The two regulatory subunits of aplysia cAMP-dependent protein kinase mediate distinct functions in producing synaptic plasticity. J Neurosci 2004; 24: 2465-2474. (Pubitemid 38327960)
    • (2004) Journal of Neuroscience , vol.24 , Issue.10 , pp. 2465-2474
    • Liu, J.1    Hu, J.-Y.2    Schacher, S.3    Schwartz, J.H.4
  • 94
    • 33645644069 scopus 로고    scopus 로고
    • CAMP-dependent protein kinase postsynaptic localization regulated by NMDA receptor activation through translocation of an A-kinase anchoring protein scaffold protein
    • DOI 10.1523/JNEUROSCI.3092-05.2006
    • Smith KE, Gibson ES, Dell'Acqua ML. cAMP-dependent protein kinase postsynaptic localization regulated by NMDA receptor activation through translocation of an A-kinase anchoring protein scaffold protein. J Neurosci 2006; 26: 2391-2402. (Pubitemid 44698998)
    • (2006) Journal of Neuroscience , vol.26 , Issue.9 , pp. 2391-2402
    • Smith, K.E.1    Gibson, E.S.2    Dell'Acqua, M.L.3
  • 95
    • 0033187357 scopus 로고    scopus 로고
    • Dopaminergic modulation of voltage-gated Na+ current in rat hippocampal neurons requires anchoring of cAMP-dependent protein kinase
    • Cantrell AR, Tibbs VC, Westenbroek RE, Scheuer T, Catterall WA. Dopaminergic modulation of voltage-gated Na+ current in rat hippocampal neurons requires anchoring of cAMP-dependent protein kinase. J Neurosci 1999; 19: RC21.
    • (1999) J Neurosci , vol.19
    • Cantrell, A.R.1    Tibbs, V.C.2    Westenbroek, R.E.3    Scheuer, T.4    Catterall, W.A.5
  • 97
    • 0041430707 scopus 로고    scopus 로고
    • Long-term effects of olanzapine, risperidone, and quetiapine on ionotropic glutamate receptor types: Implications for antipsychotic drug treatment
    • DOI 10.1124/jpet.103.052597
    • Tarazi FI, Baldessarini RJ, Kula NS, Zhang K. Long-term effects of olanzapine, risperidone, and quetiapine on ionotropic glutamate receptor types: implications for antipsychotic drug treatment. J Pharmacol Exp Ther 2003; 306: 1145-1151. (Pubitemid 37025325)
    • (2003) Journal of Pharmacology and Experimental Therapeutics , vol.306 , Issue.3 , pp. 1145-1151
    • Tarazi, F.I.1    Baldessarini, R.J.2    Kula, N.S.3    Zhang, K.4
  • 98
    • 30944443357 scopus 로고    scopus 로고
    • Evidence for the preferential involvement of 5-HT2A serotonin receptors in stress- and drug-induced dopamine release in the rat medial prefrontal cortex
    • DOI 10.1038/sj.npp.1300819, PII 1300819
    • Pehek EA, Nocjar C, Roth BL, Byrd TA, Mabrouk OS. Evidence for the preferential involvement of 5-HT2A serotonin receptors in stress- and drug-induced dopamine release in the rat medial prefrontal cortex. Neuropsychopharmacology 2006; 31: 265-277. (Pubitemid 43113392)
    • (2006) Neuropsychopharmacology , vol.31 , Issue.2 , pp. 265-277
    • Pehek, E.A.1    Nocjar, C.2    Roth, B.L.3    Byrd, T.A.4    Mabrouk, O.S.5
  • 99
    • 50349086333 scopus 로고    scopus 로고
    • Neuropharmacology of second-generation antipsychotic drugs: A validity of the serotonin-dopamine hypothesis
    • Kuroki T, Nagao N, Nakahara T. Neuropharmacology of second-generation antipsychotic drugs: a validity of the serotonin-dopamine hypothesis. Prog Brain Res 2008; 172: 199-212.
    • (2008) Prog Brain Res , vol.172 , pp. 199-212
    • Kuroki, T.1    Nagao, N.2    Nakahara, T.3
  • 100
    • 2342503872 scopus 로고    scopus 로고
    • Antipsychotics Increase Microtubule-Associated Protein 2 mRNA but not Spinophilin mRNA in Rat Hippocampus and Cortex
    • DOI 10.1002/jnr.20092
    • Law AJ, Hutchinson LJ, Burnet PW, Harrison PJ. Antipsychotics increase microtubuleassociated protein 2 mRNA but not spinophilin mRNA in rat hippocampus and cortex. J Neurosci Res 2004; 76: 376-382. (Pubitemid 38580132)
    • (2004) Journal of Neuroscience Research , vol.76 , Issue.3 , pp. 376-382
    • Law, A.J.1    Hutchinson, L.J.2    Burnet, P.W.J.3    Harrison, P.J.4
  • 101
    • 14644389398 scopus 로고    scopus 로고
    • Antipsychotics alter the protein expression levels of catenin and GSK-3 in the rat medial prefrontal cortex and striatum
    • DOI 10.1016/j.biopsych.2004.11.036
    • Alimohamad H, Rajakumar N, Seah YH, Rushlow W. Antipsychotics alter the protein expression levels of beta-catenin and GSK-3 in the rat medial prefrontal cortex and striatum. Biol Psychiatry 2005; 57: 533-542. (Pubitemid 40311989)
    • (2005) Biological Psychiatry , vol.57 , Issue.5 , pp. 533-542
    • Alimohamad, H.1    Rajakumar, N.2    Seah, Y.-H.3    Rushlow, W.4
  • 103
    • 79954475552 scopus 로고    scopus 로고
    • Prostaglandin e regulates AMPA receptor phosphorylation and promotes membrane insertion in preoptic area neurons and glia during sexual differentiation
    • Lenz KM, Wright CL, Martin RC, McCarthy MM. Prostaglandin E regulates AMPA receptor phosphorylation and promotes membrane insertion in preoptic area neurons and glia during sexual differentiation. PLoS One 2011; 6: e18500.
    • (2011) PLoS One , vol.6
    • Lenz, K.M.1    Wright, C.L.2    Martin, R.C.3    McCarthy, M.M.4
  • 104
    • 53049099496 scopus 로고    scopus 로고
    • Steroids, sex and the cerebellar cortex: Implications for human disease
    • Dean SL, McCarthy MM. Steroids, sex and the cerebellar cortex: implications for human disease. Cerebellum 2008; 7: 38-47.
    • (2008) Cerebellum , vol.7 , pp. 38-47
    • Dean, S.L.1    McCarthy, M.M.2
  • 105
    • 1342330548 scopus 로고    scopus 로고
    • Neurosteroid biosynthesis in the human brain and its clinical implications
    • DOI 10.1196/annals.1286.007
    • Stoffel-Wagner B. Neurosteroid biosynthesis in the human brain and its clinical implications. Ann NY Acad Sci 2003; 1007: 64-78. (Pubitemid 38253655)
    • (2003) Annals of the New York Academy of Sciences , vol.1007 , pp. 64-78
    • Stoffel-Wagner, B.1
  • 106
    • 34548860619 scopus 로고    scopus 로고
    • Genetic disruption of protein kinase a anchoring reveals a role for compartmentalized kinase signaling in theta-burst long-term potentiation and spatial memory
    • DOI 10.1523/JNEUROSCI.1602-07.2007
    • Nie T, McDonough CB, Huang T, Nguyen PV, Abel T. Genetic disruption of protein kinase A anchoring reveals a role for compartmentalized kinase signaling in theta-burst long-term potentiation and spatial memory. J Neurosci 2007; 27: 10278-10288. (Pubitemid 47450469)
    • (2007) Journal of Neuroscience , vol.27 , Issue.38 , pp. 10278-10288
    • Nie, T.1    McDonough, C.B.2    Huang, T.3    Nguyen, P.V.4    Abel, T.5
  • 107
    • 33749254952 scopus 로고    scopus 로고
    • En2 knockout mice display neurobehavioral and neurochemical alterations relevant to autism spectrum disorder
    • DOI 10.1016/j.brainres.2006.07.086, PII S0006899306022724
    • Cheh MA, Millonig JH, Roselli LM, Ming X, Jacobsen E, Kamdar S et al. En2 knockout mice display neurobehavioral and neurochemical alterations relevant to autism spectrum disorder. Brain Res 2006; 1116: 166-176. (Pubitemid 44485007)
    • (2006) Brain Research , vol.1116 , Issue.1 , pp. 166-176
    • Cheh, M.A.1    Millonig, J.H.2    Roselli, L.M.3    Ming, X.4    Jacobsen, E.5    Kamdar, S.6    Wagner, G.C.7
  • 108
    • 76649086962 scopus 로고    scopus 로고
    • Neuroligin-1 deletion results in impaired spatial memory and increased repetitive behavior
    • Blundell J, Blaiss CA, Etherton MR, Espinosa F, Tabuchi K, Walz C et al. Neuroligin-1 deletion results in impaired spatial memory and increased repetitive behavior. J Neurosci 2010; 30: 2115-2129.
    • (2010) J Neurosci , vol.30 , pp. 2115-2129
    • Blundell, J.1    Blaiss, C.A.2    Etherton, M.R.3    Espinosa, F.4    Tabuchi, K.5    Walz, C.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.