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Volumn 171, Issue 6, 2016, Pages 797-805

Rare UNC13B variations and risk of schizophrenia: Whole-exome sequencing in a multiplex family and follow-up resequencing and a case–control study

Author keywords

gene based analysis; Japanese; meta analysis; missense variation

Indexed keywords

DNA; NERVE PROTEIN; UNC13B PROTEIN, HUMAN;

EID: 84961266979     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.32444     Document Type: Article
Times cited : (19)

References (38)
  • 1
    • 0033084096 scopus 로고    scopus 로고
    • Differential expression of two novel Munc13 proteins in rat brain
    • Augustin I, Betz A, Herrmann C, Jo T, Brose N. 1999a. Differential expression of two novel Munc13 proteins in rat brain. Biochem J 337:363–371.
    • (1999) Biochem J , vol.337 , pp. 363-371
    • Augustin, I.1    Betz, A.2    Herrmann, C.3    Jo, T.4    Brose, N.5
  • 2
    • 0033615054 scopus 로고    scopus 로고
    • Munc13-1 is essential for fusion competence of glutamatergic synaptic vesicles
    • Augustin I, Rosenmund C, Südhof TC, Brose N. 1999b. Munc13-1 is essential for fusion competence of glutamatergic synaptic vesicles. Nature 400:457–461.
    • (1999) Nature , vol.400 , pp. 457-461
    • Augustin, I.1    Rosenmund, C.2    Südhof, T.C.3    Brose, N.4
  • 3
    • 84869089377 scopus 로고    scopus 로고
    • Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility
    • Bi C, Wu J, Jiang T, Liu Q, Cai W, Yu P, Cai T, Zhao M, Jiang YH, Sun ZS. 2012. Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility. Hum Mutat 33:1635–1638.
    • (2012) Hum Mutat , vol.33 , pp. 1635-1638
    • Bi, C.1    Wu, J.2    Jiang, T.3    Liu, Q.4    Cai, W.5    Yu, P.6    Cai, T.7    Zhao, M.8    Jiang, Y.H.9    Sun, Z.S.10
  • 5
    • 77952574849 scopus 로고    scopus 로고
    • Uncovering the roles of rare variants in common disease through whole-genome sequencing
    • Cirulli ET, Goldstein DB. 2010. Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet 11:415–425.
    • (2010) Nat Rev Genet , vol.11 , pp. 415-425
    • Cirulli, E.T.1    Goldstein, D.B.2
  • 11
  • 12
    • 84920646061 scopus 로고    scopus 로고
    • Genetic risk for schizophrenia: Convergence on synaptic pathways involved in plasticity
    • Hall J, Trent S, Thomas KL, O'Donovan MC, Owen MJ. 2015. Genetic risk for schizophrenia: Convergence on synaptic pathways involved in plasticity. Biol Psychiatry 77:52–58.
    • (2015) Biol Psychiatry , vol.77 , pp. 52-58
    • Hall, J.1    Trent, S.2    Thomas, K.L.3    O'Donovan, M.C.4    Owen, M.J.5
  • 15
    • 84938207943 scopus 로고    scopus 로고
    • Rare truncating variations and risk of autism spectrum disorder: Whole-exome sequencing of a multiplex family and follow-up study in a Japanese population
    • Inoue E, Watanabe Y, Egawa J, Sugimoto A, Nunokawa A, Shibuya M, Igeta H, Someya T. 2015. Rare truncating variations and risk of autism spectrum disorder: Whole-exome sequencing of a multiplex family and follow-up study in a Japanese population. Psychiatry Clin Neurosci 69:472–476.
    • (2015) Psychiatry Clin Neurosci , vol.69 , pp. 472-476
    • Inoue, E.1    Watanabe, Y.2    Egawa, J.3    Sugimoto, A.4    Nunokawa, A.5    Shibuya, M.6    Igeta, H.7    Someya, T.8
  • 17
    • 84867295592 scopus 로고    scopus 로고
    • Molecular machines governing exocytosis of synaptic vesicles
    • Jahn R, Fasshauer D. 2012. Molecular machines governing exocytosis of synaptic vesicles. Nature 490:201–207.
    • (2012) Nature , vol.490 , pp. 201-207
    • Jahn, R.1    Fasshauer, D.2
  • 21
    • 84880294630 scopus 로고    scopus 로고
    • General framework for meta-analysis of rare variants in sequencing association studies
    • Lee S, Teslovich TM, Boehnke M, Lin X. 2013. General framework for meta-analysis of rare variants in sequencing association studies. Am J Hum Genet 93:42–53.
    • (2013) Am J Hum Genet , vol.93 , pp. 42-53
    • Lee, S.1    Teslovich, T.M.2    Boehnke, M.3    Lin, X.4
  • 23
    • 58149464318 scopus 로고    scopus 로고
    • Common genetic determinants of schizophrenia and bipolar disorder in Swedish families: A population-based study
    • Lichtenstein P, Yip BH, Björk C, Pawitan Y, Cannon TD, Sullivan PF, Hultman CM. 2009. Common genetic determinants of schizophrenia and bipolar disorder in Swedish families: A population-based study. Lancet 373:234–239.
    • (2009) Lancet , vol.373 , pp. 234-239
    • Lichtenstein, P.1    Yip, B.H.2    Björk, C.3    Pawitan, Y.4    Cannon, T.D.5    Sullivan, P.F.6    Hultman, C.M.7
  • 27
    • 0037204063 scopus 로고    scopus 로고
    • Differential control of vesicle priming and short-term plasticity by Munc13 isoforms
    • Rosenmund C, Sigler A, Augustin I, Reim K, Brose N, Rhee JS. 2002. Differential control of vesicle priming and short-term plasticity by Munc13 isoforms. Neuron 33:411–424.
    • (2002) Neuron , vol.33 , pp. 411-424
    • Rosenmund, C.1    Sigler, A.2    Augustin, I.3    Reim, K.4    Brose, N.5    Rhee, J.S.6
  • 29
    • 84904804929 scopus 로고    scopus 로고
    • Biological insights from 108 schizophrenia-associated genetic loci
    • Schizophrenia Working Group of the Psychiatric Genomics Consortium
    • Schizophrenia Working Group of the Psychiatric Genomics Consortium. 2014. Biological insights from 108 schizophrenia-associated genetic loci. Nature 511:421–427.
    • (2014) Nature , vol.511 , pp. 421-427
  • 30
    • 84863826404 scopus 로고    scopus 로고
    • The presynaptic active zone
    • Südhof TC. 2012. The presynaptic active zone. Neuron 75:11–25.
    • (2012) Neuron , vol.75 , pp. 11-25
    • Südhof, T.C.1
  • 33
    • 68949180394 scopus 로고    scopus 로고
    • Schizophrenia
    • van Os J, Kapur S. 2009. Schizophrenia. Lancet 374:635–645.
    • (2009) Lancet , vol.374 , pp. 635-645
    • van Os, J.1    Kapur, S.2
  • 34
    • 0037172972 scopus 로고    scopus 로고
    • Total arrest of spontaneous and evoked synaptic transmission but normal synaptogenesis in the absence of Munc13-mediated vesicle priming
    • Varoqueaux F, Sigler A, Rhee JS, Brose N, Enk C, Reim K, Rosenmund C. 2002. Total arrest of spontaneous and evoked synaptic transmission but normal synaptogenesis in the absence of Munc13-mediated vesicle priming. Proc Natl Acad Sci USA 99:9037–9042.
    • (2002) Proc Natl Acad Sci USA , vol.99 , pp. 9037-9042
    • Varoqueaux, F.1    Sigler, A.2    Rhee, J.S.3    Brose, N.4    Enk, C.5    Reim, K.6    Rosenmund, C.7
  • 35
    • 34548509866 scopus 로고    scopus 로고
    • No association between the tumor necrosis factor-alpha gene promoter polymorphisms and schizophrenia in a Japanese population
    • Watanabe Y, Muratake T, Kaneko N, Fukui N, Nara Y, Someya T. 2007. No association between the tumor necrosis factor-alpha gene promoter polymorphisms and schizophrenia in a Japanese population. Psychiatry Res 153:1–6.
    • (2007) Psychiatry Res , vol.153 , pp. 1-6
    • Watanabe, Y.1    Muratake, T.2    Kaneko, N.3    Fukui, N.4    Nara, Y.5    Someya, T.6
  • 36
    • 33747502544 scopus 로고    scopus 로고
    • No association between the brain-derived neurotrophic factor gene and schizophrenia in a Japanese population
    • Watanabe Y, Muratake T, Kaneko N, Nunokawa A, Someya T. 2006. No association between the brain-derived neurotrophic factor gene and schizophrenia in a Japanese population. Schizophr Res 84:29–35.
    • (2006) Schizophr Res , vol.84 , pp. 29-35
    • Watanabe, Y.1    Muratake, T.2    Kaneko, N.3    Nunokawa, A.4    Someya, T.5
  • 38
    • 80051499915 scopus 로고    scopus 로고
    • Rare variant association testing for sequencing data using the sequence Kernel association test (SKAT)
    • Wu MC, Lee S, Cai T, Li Y, Boehnke M, Lin X. 2011. Rare variant association testing for sequencing data using the sequence Kernel association test (SKAT). Am J Hum Genet 89:82–93.
    • (2011) Am J Hum Genet , vol.89 , pp. 82-93
    • Wu, M.C.1    Lee, S.2    Cai, T.3    Li, Y.4    Boehnke, M.5    Lin, X.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.