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Volumn 167, Issue 4, 2015, Pages 715-723

Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility

Author keywords

15q13.3; Copy number variants; Neurodevelopmental disorders; Sequence variants

Indexed keywords

BUNGAROTOXIN RECEPTOR; CHRNA7 PROTEIN, HUMAN;

EID: 84925726856     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36847     Document Type: Article
Times cited : (48)

References (41)
  • 1
    • 58249113980 scopus 로고    scopus 로고
    • Mammalian nicotinic acetylcholine receptors: from structure to function
    • Albuquerque EX, Pereira EF, Alkondon M, Rogers SW. 2009. Mammalian nicotinic acetylcholine receptors: from structure to function. Physiol Rev 89:73-120.
    • (2009) Physiol Rev , vol.89 , pp. 73-120
    • Albuquerque, E.X.1    Pereira, E.F.2    Alkondon, M.3    Rogers, S.W.4
  • 4
    • 34347231972 scopus 로고    scopus 로고
    • Synaptic plasticity and the neurobiology of learning and memory
    • Benfenati F. 2007. Synaptic plasticity and the neurobiology of learning and memory. Acta Biomed 78:58-66.
    • (2007) Acta Biomed , vol.78 , pp. 58-66
    • Benfenati, F.1
  • 5
    • 84886800878 scopus 로고    scopus 로고
    • Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci
    • Chilian B, Abdollahpour H, Bierhals T, Haltrich I, Fekete G, Nagel I, Rosenberger G, Kutsche K. 2013. Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci. Clin Genet 84:560-565.
    • (2013) Clin Genet , vol.84 , pp. 560-565
    • Chilian, B.1    Abdollahpour, H.2    Bierhals, T.3    Haltrich, I.4    Fekete, G.5    Nagel, I.6    Rosenberger, G.7    Kutsche, K.8
  • 8
    • 84862493260 scopus 로고    scopus 로고
    • Genetic architecture in autism spectrum disorder
    • Devlin B, Scherer SW. 2012. Genetic architecture in autism spectrum disorder. Curr Opin Genet Dev 22:229-237.
    • (2012) Curr Opin Genet Dev , vol.22 , pp. 229-237
    • Devlin, B.1    Scherer, S.W.2
  • 14
    • 62149112931 scopus 로고    scopus 로고
    • Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number
    • Hogart A, Leung KN, Wang NJ, Wu DJ, Driscoll J, Vallero RO, Schanen NC, LaSalle JM. 2009. Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number. J Med Genet 46:11-13.
    • (2009) J Med Genet , vol.46 , pp. 11-13
    • Hogart, A.1    Leung, K.N.2    Wang, N.J.3    Wu, D.J.4    Driscoll, J.5    Vallero, R.O.6    Schanen, N.C.7    LaSalle, J.M.8
  • 15
    • 84874980921 scopus 로고    scopus 로고
    • Identification of single gene deletions at 15q13.3: Further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype
    • Hoppman-Chaney N, Wain K, Seger PR, Superneau DW, Hodge JC. 2013. Identification of single gene deletions at 15q13.3: Further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype. Clin Genet 83:345-351.
    • (2013) Clin Genet , vol.83 , pp. 345-351
    • Hoppman-Chaney, N.1    Wain, K.2    Seger, P.R.3    Superneau, D.W.4    Hodge, J.C.5
  • 22
    • 80052783934 scopus 로고    scopus 로고
    • Neuron-specific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome
    • Meguro-Horike M, Yasui DH, Powell W, Schroeder DI, Oshimura M, Lasalle JM, Horike S. 2011. Neuron-specific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome. Hum Mol Genet 20:3798-3810.
    • (2011) Hum Mol Genet , vol.20 , pp. 3798-3810
    • Meguro-Horike, M.1    Yasui, D.H.2    Powell, W.3    Schroeder, D.I.4    Oshimura, M.5    Lasalle, J.M.6    Horike, S.7
  • 23
    • 80053106248 scopus 로고    scopus 로고
    • Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders
    • Mikhail FM, Lose EJ, Robin NH, Descartes MD, Rutledge KD, Rutledge SL, Korf BR, Carroll AJ. 2011. Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders. Am J Med Genet A 155a:2386-2396.
    • (2011) Am J Med Genet A , vol.155 , pp. 2386-2396
    • Mikhail, F.M.1    Lose, E.J.2    Robin, N.H.3    Descartes, M.D.4    Rutledge, K.D.5    Rutledge, S.L.6    Korf, B.R.7    Carroll, A.J.8
  • 28
    • 0035704937 scopus 로고    scopus 로고
    • A 3-Mb map of a large segmental duplication overlapping the alpha 7-nicotinic acetylcholine receptor gene (CHRNA7) at human 15q13-q14
    • Riley B, Williamson M, Collier D, Wilkie H, Makoff A. 2002. A 3-Mb map of a large segmental duplication overlapping the alpha 7-nicotinic acetylcholine receptor gene (CHRNA7) at human 15q13-q14. Genomics 79:197-209.
    • (2002) Genomics , vol.79 , pp. 197-209
    • Riley, B.1    Williamson, M.2    Collier, D.3    Wilkie, H.4    Makoff, A.5
  • 35
    • 80054803302 scopus 로고    scopus 로고
    • Epilepsy and autism: Neurodevelopmental perspective
    • Tuchman R, Cuccaro M. 2011. Epilepsy and autism: Neurodevelopmental perspective. Curr Neurol Neurosci Rep 11:428-434.
    • (2011) Curr Neurol Neurosci Rep , vol.11 , pp. 428-434
    • Tuchman, R.1    Cuccaro, M.2
  • 36
    • 0026559614 scopus 로고
    • Nicotinic receptors that bind alpha-bungarotoxin on neurons raise intracellular free Ca2 +
    • Vijayaraghavan S, Pugh PC, Zhang ZW, Rathouz MM, Berg DK. 1992. Nicotinic receptors that bind alpha-bungarotoxin on neurons raise intracellular free Ca2 +. Neuron 8:353-362.
    • (1992) Neuron , vol.8 , pp. 353-362
    • Vijayaraghavan, S.1    Pugh, P.C.2    Zhang, Z.W.3    Rathouz, M.M.4    Berg, D.K.5
  • 39
    • 35948984173 scopus 로고    scopus 로고
    • PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
    • Wang K, Li M, Hadley D, Liu R, Glessner J, Grant SF, Hakonarson H, Bucan M. 2007. PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 17:1665-1674.
    • (2007) Genome Res , vol.17 , pp. 1665-1674
    • Wang, K.1    Li, M.2    Hadley, D.3    Liu, R.4    Glessner, J.5    Grant, S.F.6    Hakonarson, H.7    Bucan, M.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.