메뉴 건너뛰기




Volumn 4, Issue 2, 2009, Pages

Association and mutation analyses of 16p11.2 autism candidate genes

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

EID: 84864276520     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0004582     Document Type: Article
Times cited : (78)

References (47)
  • 2
    • 33749072404 scopus 로고    scopus 로고
    • Behavioral and emotional problems in young people with pervasive developmental disorders: Relative prevalence, effects of subject characteristics, and empirical classification
    • Lecavalier L (2006) Behavioral and emotional problems in young people with pervasive developmental disorders: relative prevalence, effects of subject characteristics, and empirical classification. J Autism Dev Disord 36: 1101-14.
    • (2006) J Autism Dev Disord , vol.36 , pp. 1101-1114
    • Lecavalier, L.1
  • 3
    • 36649024143 scopus 로고    scopus 로고
    • The autism-epilepsy connection
    • Levisohn PM (2007) The autism-epilepsy connection. Epilepsia 48 Suppl 9: 33-5.
    • (2007) Epilepsia , vol.48 , pp. 33-35
    • Levisohn, P.M.1
  • 5
    • 33846921789 scopus 로고    scopus 로고
    • Autism spectrum disorders: Developmental disconnection syndromes
    • Geschwind DH, Levitt P (2007) Autism spectrum disorders: developmental disconnection syndromes. Curr Opin Neurobiol 17: 103-11.
    • (2007) Curr Opin Neurobiol , vol.17 , pp. 103-111
    • Geschwind, D.H.1    Levitt, P.2
  • 6
    • 33947605931 scopus 로고    scopus 로고
    • Childhood autism and associated comorbidities
    • Zafeiriou DI, Ververi A, Vargiami E (2007) Childhood autism and associated comorbidities. Brain Dev 29: 257-72.
    • (2007) Brain Dev , vol.29 , pp. 257-272
    • Zafeiriou, D.I.1    Ververi, A.2    Vargiami, E.3
  • 7
    • 33847700889 scopus 로고    scopus 로고
    • CDC: Autism spectrum disorders common
    • Kuehn BM (2007) CDC: autism spectrum disorders common. Jama 297: 940.
    • (2007) Jama , vol.297 , pp. 940
    • Kuehn, B.M.1
  • 9
    • 0028906338 scopus 로고
    • Autism as a strongly genetic disorder: Evidence from a British twin study
    • Bailey A, Le Couteur A, Gottesman I, Bolton P, Simonoff E, et al. (1995) Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med 25: 63-77.
    • (1995) Psychol Med , vol.25 , pp. 63-77
    • Bailey, A.1    Le Couteur, A.2    Gottesman, I.3    Bolton, P.4    Simonoff, E.5
  • 11
    • 32844460507 scopus 로고    scopus 로고
    • Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism
    • Vorstman JA, Staal WG, van Daalen E, van Engeland H, Hochstenbach PF, et al. (2006) Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Mol Psychiatry 11: 1, 18-28.
    • (2006) Mol Psychiatry , vol.11 , Issue.1 , pp. 18-28
    • Vorstman, J.A.1    Staal, W.G.2    Van Daalen, E.3    Van Engeland, H.4    Hochstenbach, P.F.5
  • 14
    • 34147222611 scopus 로고    scopus 로고
    • Autism and cytogenetic abnormalities: Solving autism one chromosome at a time
    • Martin CL, Ledbetter DH (2007) Autism and cytogenetic abnormalities: solving autism one chromosome at a time. Curr Psychiatry Rep 9: 141-7.
    • (2007) Curr Psychiatry Rep , vol.9 , pp. 141-147
    • Martin, C.L.1    Ledbetter, D.H.2
  • 15
    • 33847327313 scopus 로고    scopus 로고
    • Mapping autism risk loci using genetic linkage and chromosomal rearrangements
    • Autism Genome Project Consortium
    • Autism Genome Project Consortium and Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, et al. (2007) Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 39: 319-28.
    • (2007) Nat Genet , vol.39 , pp. 319-328
    • Szatmari, P.1    Paterson, A.D.2    Zwaigenbaum, L.3    Roberts, W.4
  • 16
    • 44349186162 scopus 로고    scopus 로고
    • Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder
    • Christian SL, Brune CW, Sudi J, Kumar RA, Liu S, et al. (2008) Novel Submicroscopic Chromosomal Abnormalities Detected in Autism Spectrum Disorder. Biol Psychiatry.
    • (2008) Biol Psychiatry
    • Christian, S.L.1    Brune, C.W.2    Sudi, J.3    Kumar, R.A.4    Liu, S.5
  • 17
    • 33751257500 scopus 로고    scopus 로고
    • Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders
    • Jacquemont ML, Sanlaville D, Redon R, Raoul O, Cormier-Daire V, et al. (2006) Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. J Med Genet 43: 843-9.
    • (2006) J Med Genet , vol.43 , pp. 843-849
    • Jacquemont, M.L.1    Sanlaville, D.2    Redon, R.3    Raoul, O.4    Cormier-Daire, V.5
  • 19
    • 34247481814 scopus 로고    scopus 로고
    • Strong association of de novo copy number mutations with autism
    • Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, et al. (2007) Strong association of de novo copy number mutations with autism. Science 316: 445-9.
    • (2007) Science , vol.316 , pp. 445-449
    • Sebat, J.1    Lakshmi, B.2    Malhotra, D.3    Troge, J.4    Lese-Martin, C.5
  • 21
    • 39049163023 scopus 로고    scopus 로고
    • Association between microdeletion and microduplication at 16p11.2 and autism
    • Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, et al. (2008) Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 358: 667-75.
    • (2008) N Engl J Med , vol.358 , pp. 667-675
    • Weiss, L.A.1    Shen, Y.2    Korn, J.M.3    Arking, D.E.4    Miller, D.T.5
  • 22
    • 42349088634 scopus 로고    scopus 로고
    • Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
    • Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, et al. (2008) Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 320: 539-43.
    • (2008) Science , vol.320 , pp. 539-543
    • Walsh, T.1    McClellan, J.M.2    McCarthy, S.E.3    Addington, A.M.4    Pierce, S.B.5
  • 23
    • 44349132708 scopus 로고    scopus 로고
    • Common and rare variants in multifactorial susceptibility to common diseases
    • Bodmer W, Bonilla C (2008) Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet 40: 695-701.
    • (2008) Nat Genet , vol.40 , pp. 695-701
    • Bodmer, W.1    Bonilla, C.2
  • 24
    • 0027377799 scopus 로고
    • Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus (IDDM)
    • Spielman RS, McGinnis RE, Ewens WJ (1993) Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 52: 506-16.
    • (1993) Am J Hum Genet , vol.52 , pp. 506-516
    • Spielman, R.S.1    McGinnis, R.E.2    Ewens, W.J.3
  • 25
    • 0031912715 scopus 로고    scopus 로고
    • A sibship test for linkage in the presence of association: The sib transmission/disequilibrium test
    • Spielman RS, Ewens WJ (1998) A sibship test for linkage in the presence of association: the sib transmission/disequilibrium test. Am J Hum Genet 62: 450-8.
    • (1998) Am J Hum Genet , vol.62 , pp. 450-458
    • Spielman, R.S.1    Ewens, W.J.2
  • 26
    • 0025809960 scopus 로고
    • Complement components C1r/C1s, bone morphogenic protein 1 and Xenopus laevis developmentally regulated protein UVS.2 share common repeats
    • Bork P (1991) Complement components C1r/C1s, bone morphogenic protein 1 and Xenopus laevis developmentally regulated protein UVS.2 share common repeats. FEBS Lett 282: 9-12.
    • (1991) FEBS Lett , vol.282 , pp. 9-12
    • Bork, P.1
  • 27
    • 0027190974 scopus 로고
    • The CUB domain. A widespread module in developmentally regulated proteins
    • Bork P, Beckmann G (1993) The CUB domain. A widespread module in developmentally regulated proteins. J Mol Biol 231: 539-45.
    • (1993) J Mol Biol , vol.231 , pp. 539-545
    • Bork, P.1    Beckmann, G.2
  • 28
    • 0037320652 scopus 로고    scopus 로고
    • Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor
    • Duan J, Wainwright MS, Comeron JM, Saitou N, Sanders AR, et al. (2003) Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor. Hum Mol Genet 12: 205-16.
    • (2003) Hum Mol Genet , vol.12 , pp. 205-216
    • Duan, J.1    Wainwright, M.S.2    Comeron, J.M.3    Saitou, N.4    Sanders, A.R.5
  • 30
    • 0035451780 scopus 로고    scopus 로고
    • On the allelic spectrum of human disease
    • Reich DE, Lander ES (2001) On the allelic spectrum of human disease. Trends Genet 17: 502-10.
    • (2001) Trends Genet , vol.17 , pp. 502-510
    • Reich, D.E.1    Lander, E.S.2
  • 31
    • 0037656313 scopus 로고    scopus 로고
    • Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
    • Jamain S, Quach H, Betancur C, Rastam M, Colineaux C, et al. (2003) Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet 34: 27-9.
    • (2003) Nat Genet , vol.34 , pp. 27-29
    • Jamain, S.1    Quach, H.2    Betancur, C.3    Rastam, M.4    Colineaux, C.5
  • 32
    • 33750079257 scopus 로고    scopus 로고
    • High frequency of neurexin 1beta signal peptide structural variants in patients with autism
    • Feng J, Schroer R, Yan J, Song W, Yang C, et al. (2006) High frequency of neurexin 1beta signal peptide structural variants in patients with autism. Neurosci Lett 409: 10-3.
    • (2006) Neurosci Lett , vol.409 , pp. 10-13
    • Feng, J.1    Schroer, R.2    Yan, J.3    Song, W.4    Yang, C.5
  • 33
    • 33845889998 scopus 로고    scopus 로고
    • Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
    • Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, et al. (2007) Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 39: 25-7.
    • (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
  • 35
    • 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
    • Wilson HL, Wong AC, Shaw SR, Tse WY, Stapleton GA, et al. (2003) Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms. J Med Genet 40: 575-84.
    • (2003) J Med Genet , vol.40 , pp. 575-584
    • Wilson, H.L.1    Wong, A.C.2    Shaw, S.R.3    Tse, W.Y.4    Stapleton, G.A.5
  • 36
    • 38749140677 scopus 로고    scopus 로고
    • Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene
    • Alarcon M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, et al. (2008) Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet 82: 150-9.
    • (2008) Am J Hum Genet , vol.82 , pp. 150-159
    • Alarcon, M.1    Abrahams, B.S.2    Stone, J.L.3    Duvall, J.A.4    Perederiy, J.V.5
  • 37
    • 38749096303 scopus 로고    scopus 로고
    • A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism
    • Arking DE, Cutler DJ, Brune CW, Teslovich TM, West K, et al. (2008) A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Am J Hum Genet 82: 160-4.
    • (2008) Am J Hum Genet , vol.82 , pp. 160-164
    • Arking, D.E.1    Cutler, D.J.2    Brune, C.W.3    Teslovich, T.M.4    West, K.5
  • 38
    • 38749099110 scopus 로고    scopus 로고
    • Molecular cytogenetic analysis and resequencing of contactin associated proteinlike 2 in autism spectrum disorders
    • Bakkaloglu B, O'Roak BJ, Louvi A, Gupta AR, Abelson JF, et al. (2008) Molecular cytogenetic analysis and resequencing of contactin associated proteinlike 2 in autism spectrum disorders. Am J Hum Genet 82: 165-73.
    • (2008) Am J Hum Genet , vol.82 , pp. 165-173
    • Bakkaloglu, B.1    O'Roak, B.J.2    Louvi, A.3    Gupta, A.R.4    Abelson, J.F.5
  • 40
    • 42349095075 scopus 로고    scopus 로고
    • Advances in autism genetics: On the threshold of a new neurobiology
    • Abrahams BS, Geschwind DH (2008) Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet 9: 341-55.
    • (2008) Nat Rev Genet , vol.9 , pp. 341-355
    • Abrahams, B.S.1    Geschwind, D.H.2
  • 41
    • 33745844760 scopus 로고    scopus 로고
    • Disturbance of cerebellar synaptic maturation in mutant mice lacking BSRPs, a novel brain-specific receptor-like protein family
    • Miyazaki T, Hashimoto K, Uda A, Sakagami H, Nakamura Y, et al. (2006) Disturbance of cerebellar synaptic maturation in mutant mice lacking BSRPs, a novel brain-specific receptor-like protein family. FEBS Lett 580: 4057-64.
    • (2006) FEBS Lett , vol.580 , pp. 4057-4064
    • Miyazaki, T.1    Hashimoto, K.2    Uda, A.3    Sakagami, H.4    Nakamura, Y.5
  • 42
    • 33645861074 scopus 로고    scopus 로고
    • DOC2A and DOC2B are sensors for neuronal activity with unique calcium-dependent and kinetic properties
    • Groffen AJ, Friedrich R, Brian EC, Ashery U, Verhage M (2006) DOC2A and DOC2B are sensors for neuronal activity with unique calcium-dependent and kinetic properties. J Neurochem 97: 818-33.
    • (2006) J Neurochem , vol.97 , pp. 818-833
    • Groffen, A.J.1    Friedrich, R.2    Brian, E.C.3    Ashery, U.4    Verhage, M.5
  • 44
    • 0033233480 scopus 로고    scopus 로고
    • Doc2alpha is an activity-dependent modulator of excitatory synaptic transmission
    • Sakaguchi G, Manabe T, Kobayashi K, Orita S, Sasaki T, et al. (1999) Doc2alpha is an activity-dependent modulator of excitatory synaptic transmission. Eur J Neurosci 11: 4262-8.
    • (1999) Eur J Neurosci , vol.11 , pp. 4262-4268
    • Sakaguchi, G.1    Manabe, T.2    Kobayashi, K.3    Orita, S.4    Sasaki, T.5
  • 45
    • 34548292504 scopus 로고    scopus 로고
    • PLINK: A tool set for whole-genome association and population-based linkage analyses
    • Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81: 559-75.
    • (2007) Am J Hum Genet , vol.81 , pp. 559-575
    • Purcell, S.1    Neale, B.2    Todd-Brown, K.3    Thomas, L.4    Ferreira, M.A.5
  • 46
    • 3042775564 scopus 로고    scopus 로고
    • Control of roof plate development and signaling by Lmx1b in the caudal vertebrate CNS
    • Chizhikov VV, Millen KJ (2004) Control of roof plate development and signaling by Lmx1b in the caudal vertebrate CNS. J Neurosci 24: 5694-703.
    • (2004) J Neurosci , vol.24 , pp. 5694-5703
    • Chizhikov, V.V.1    Millen, K.J.2
  • 47
    • 2542559015 scopus 로고    scopus 로고
    • Wnt genes define distinct boundaries in the developing human brain: Implications for human forebrain patterning
    • Abu-Khalil A, Fu L, Grove EA, Zecevic N, Geschwind DH (2004) Wnt genes define distinct boundaries in the developing human brain: implications for human forebrain patterning. J Comp Neurol 474: 276-88.
    • (2004) J Comp Neurol , vol.474 , pp. 276-288
    • Abu-Khalil, A.1    Fu, L.2    Grove, E.A.3    Zecevic, N.4    Geschwind, D.H.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.