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Volumn 19, Issue 6, 2011, Pages 727-731

Reduced transcript expression of genes affected by inherited and de novo CNVs in autism

Author keywords

aCGH; autism; CNV; deletion; duplication; expression

Indexed keywords

ADULT; ALLELE; ARID1B GENE; ARTICLE; AUTISM; CLINICAL ARTICLE; CNTNAP2 GENE; CONTROLLED STUDY; COPY NUMBER VARIATION; FEMALE; GENE; GENE EXPRESSION; GENETIC TRANSCRIPTION; HUMAN; MALE; PRIORITY JOURNAL; PRODH GENE; ZNF214 GENE;

EID: 79956294419     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.24     Document Type: Article
Times cited : (98)

References (28)
  • 1
    • 0028906338 scopus 로고
    • Autism as a strongly genetic disorder: Evidence from a British twin study
    • Bailey A, Le Couteur A, Gottesman I et al: Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med 1995; 25: 63-77.
    • (1995) Psychol Med , vol.25 , pp. 63-77
    • Bailey, A.1    Le Couteur, A.2    Gottesman, I.3
  • 2
    • 33847327313 scopus 로고    scopus 로고
    • Mapping autism risk loci using genetic linkage and chromosomal rearrangements
    • Autism Genome Project Consortium
    • Autism Genome Project Consortium: Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 2007; 39: 319-328.
    • (2007) Nat Genet , vol.39 , pp. 319-328
  • 3
    • 44349186162 scopus 로고    scopus 로고
    • Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder
    • Christian SL, Brune CW, Sudi J et al: Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biol Psychiatry 2008; 63: 1111-1117.
    • (2008) Biol Psychiatry , vol.63 , pp. 1111-1117
    • Christian, S.L.1    Brune, C.W.2    Sudi, J.3
  • 4
    • 67349182343 scopus 로고    scopus 로고
    • Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
    • Glessner JT, Wang K, Cai G 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
  • 5
    • 69949177829 scopus 로고    scopus 로고
    • Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation
    • Guilmatre A, Dubourg C, Mosca A-L et al: Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Arch Gen Psychiatry 2009; 66: 947-956.
    • (2009) Arch Gen Psychiatry , vol.66 , pp. 947-956
    • Guilmatre, A.1    Dubourg, C.2    Mosca, A.-L.3
  • 6
    • 40749089626 scopus 로고    scopus 로고
    • Structural variation of chromosomes in autism spectrum disorder
    • Marshall C, Noor A, Vincent J et al: 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.1    Noor, A.2    Vincent, J.3
  • 8
    • 77954657070 scopus 로고    scopus 로고
    • Functional impact of global rare copy number variation in autism spectrum disorders
    • Pinto D, Pagnamenta AT, Klei L 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
  • 11
    • 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
  • 12
    • 64649098876 scopus 로고    scopus 로고
    • The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13
    • Hogart A, Wu D, Lasalle JM, Schanen NC: The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13. Neurobiol Dis 2008; 46: 86-93.
    • (2008) Neurobiol Dis , vol.46 , pp. 86-93
    • Hogart, A.1    Wu, D.2    Lasalle, J.M.3    Schanen, N.C.4
  • 13
    • 54049144653 scopus 로고    scopus 로고
    • Copy-number variations associated with neuropsychiatric conditions
    • Cook Jr EH, Scherer SW: Copy-number variations associated with neuropsychiatric conditions. Nature 2008; 455: 919-923.
    • (2008) Nature , vol.455 , pp. 919-923
    • Cook Jr., E.H.1    Scherer, S.W.2
  • 14
    • 66449098701 scopus 로고    scopus 로고
    • Lack of efficacy of citalopram in children with autism spectrum disorders and high levels of repetitive behavior: Citalopram ineffective in children with autism
    • King BH, Hollander E, Sikich L et al: Lack of efficacy of citalopram in children with autism spectrum disorders and high levels of repetitive behavior: citalopram ineffective in children with autism. Arch Gen Psychiatry 2009; 66: 583-590.
    • (2009) Arch Gen Psychiatry , vol.66 , pp. 583-590
    • King, B.H.1    Hollander, E.2    Sikich, L.3
  • 15
    • 38349132807 scopus 로고    scopus 로고
    • A comparison between screened NIMH and clinically interviewed control samples on neuroticism and extraversion
    • Talati A, Fyer AJ, Weissman MM: A comparison between screened NIMH and clinically interviewed control samples on neuroticism and extraversion. Mol Psychiatry 2008; 13: 122-130.
    • (2008) Mol Psychiatry , vol.13 , pp. 122-130
    • Talati, A.1    Fyer, A.J.2    Weissman, M.M.3
  • 17
    • 33846067524 scopus 로고    scopus 로고
    • PANTHER version 6: Protein sequence and function evolution data with expanded representation of biological pathways
    • DOI 10.1093/nar/gkl869
    • Mi H, Guo N, Kejariwal A, Thomas PD: PANTHER version 6: protein sequence and function evolution data with expanded representation of biological pathways. Nucleic Acids Res 2007; 35: D247-D252. (Pubitemid 46056208)
    • (2007) Nucleic Acids Research , vol.35 , Issue.SUPPL. 1
    • Mi, H.1    Guo, N.2    Kejariwal, A.3    Thomas, P.D.4
  • 18
    • 77649122250 scopus 로고    scopus 로고
    • A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
    • Girirajan S, Rosenfeld JA, Cooper GM et al: A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet 2010; 42: 203-209.
    • (2010) Nat Genet , vol.42 , pp. 203-209
    • Girirajan, S.1    Rosenfeld, J.A.2    Cooper, G.M.3
  • 19
    • 33846977688 scopus 로고    scopus 로고
    • Distinct mammalian SWI/SNF chromatin remodeling complexes with opposing roles in cell-cycle control
    • Nagl Jr NG, Wang X, Patsialou A, Van Scoy M, Moran E: Distinct mammalian SWI/SNF chromatin remodeling complexes with opposing roles in cell-cycle control. EMBO J 2007; 26: 752-763.
    • (2007) EMBO J , vol.26 , pp. 752-763
    • Nagl Jr., N.G.1    Wang, X.2    Patsialou, A.3    Van Scoy, M.4    Moran, E.5
  • 20
    • 67249131065 scopus 로고    scopus 로고
    • Involvement of SMARCA2/BRM in the SWI/SNF chromatin-remodeling complex in schizophrenia
    • Koga M, Ishiguro H, Yazaki S et al: Involvement of SMARCA2/BRM in the SWI/SNF chromatin-remodeling complex in schizophrenia. Hum Mol Genet 2009; 18: 2483-2494.
    • (2009) Hum Mol Genet , vol.18 , pp. 2483-2494
    • Koga, M.1    Ishiguro, H.2    Yazaki, S.3
  • 21
    • 70349492911 scopus 로고    scopus 로고
    • Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome
    • Meechan DW, Tucker ES, Maynard TM, LaMantia A-S: Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome. Proc Natl Acad Sci USA 2009; 106: 16434-16445.
    • (2009) Proc Natl Acad Sci USA , vol.106 , pp. 16434-16445
    • Meechan, D.W.1    Tucker, E.S.2    Maynard, T.M.3    Lamantia, A.-S.4
  • 26
    • 76549104658 scopus 로고    scopus 로고
    • Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder
    • Poot M, Beyer V, Schwaab I et al: Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder. Neurogenetics 2010; 11: 81-89.
    • (2010) Neurogenetics , vol.11 , pp. 81-89
    • Poot, M.1    Beyer, V.2    Schwaab, I.3
  • 27
    • 0037098954 scopus 로고    scopus 로고
    • Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11-q13 duplications
    • Herzing LBK, Cook EH, Ledbetter DH: Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11- q13 duplications. Hum Mol Genet 2002; 11: 1707-1718. (Pubitemid 34812092)
    • (2002) Human Molecular Genetics , vol.11 , Issue.15 , pp. 1707-1718
    • Herzing, L.B.K.1    Cook Jr., E.H.2    Ledbetter, D.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.