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Volumn 8, Issue 11, 2003, Pages 916-924

Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene

Author keywords

Association; Autistic disorder; Chromosome 2; Mutation screening; Susceptibility gene

Indexed keywords

CHIMERIN; CYCLIC AMP GUANINE NUCLEOTIDE EXCHANGE FACTOR II; DISTAL LESS 2 PROTEIN; GLUTAMATE DECARBOXYLASE 1; HOMEOBOX D1 PROTEIN; NEUROGENIC DIFFERENTIATION FACTOR; PROTEIN; T BOX BRAIN 1 PROTEIN; TRANSCRIPTION FACTOR AP 2; UNCLASSIFIED DRUG;

EID: 10744226187     PISSN: 13594184     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.mp.4001340     Document Type: Article
Times cited : (107)

References (40)
  • 4
    • 0029134874 scopus 로고
    • Latent-class analysis of recurrence risk for complex phenotypes with selection and measurement error: A twin and family history study of autism
    • Pickles A, Bolton P, Macdonald H, Bailey A, Le Couteur A, Sim C-H et al. Latent-class analysis of recurrence risk for complex phenotypes with selection and measurement error: a twin and family history study of autism. Am J Hum Genet 1995; 57: 717-726.
    • (1995) Am J Hum Genet , vol.57 , pp. 717-726
    • Pickles, A.1    Bolton, P.2    Macdonald, H.3    Bailey, A.4    Le Couteur, A.5    Sim, C.-H.6
  • 6
    • 0034883367 scopus 로고    scopus 로고
    • A genomewide screen for autism: Strong evidence for linkage to chromosomes 2q, 7q, and 16p
    • IMGSAC. A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p. Am J Hum Genet 2001; 69: 570-581.
    • (2001) Am J Hum Genet , vol.69 , pp. 570-581
  • 12
    • 0036780698 scopus 로고    scopus 로고
    • A genomewide screen for autism-spectrum disorders: Evidence for a major susceptibility locus on chromosome 3q25-27
    • Auranen M, Vanhala R, Varilo T, Ayers K, Kempas E, Ylisaukko-Oja T et al. A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27. Am J Hum Genet 2002; 71: 777-790.
    • (2002) Am J Hum Genet , vol.71 , pp. 777-790
    • Auranen, M.1    Vanhala, R.2    Varilo, T.3    Ayers, K.4    Kempas, E.5    Ylisaukko-Oja, T.6
  • 13
    • 18344374001 scopus 로고    scopus 로고
    • Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder
    • Shao Y, Raiford K, Wolpert C, Cope H, Ravan S, Ashley-Koch A et al. Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder. Am J Hum Genet 2002; 70: 1058-1061.
    • (2002) Am J Hum Genet , vol.70 , pp. 1058-1061
    • Shao, Y.1    Raiford, K.2    Wolpert, C.3    Cope, H.4    Ravan, S.5    Ashley-Koch, A.6
  • 15
    • 0028983389 scopus 로고
    • T-brain-1: A homolog of Brachyury whose expression defines molecularly distinct domains within the cerebral cortex
    • Bulfone A, Smiga S, Shimamura K, Peterson A, Puelles L, Rubenstein J. T-brain-1: a homolog of Brachyury whose expression defines molecularly distinct domains within the cerebral cortex. Neuron 1995; 15: 63-78.
    • (1995) Neuron , vol.15 , pp. 63-78
    • Bulfone, A.1    Smiga, S.2    Shimamura, K.3    Peterson, A.4    Puelles, L.5    Rubenstein, J.6
  • 16
    • 0034673760 scopus 로고    scopus 로고
    • Nuclear translocation and transcription regulation by the membrane-associated guanylate kinase CASK/LIN-2
    • Hsueh Y, Wang T, Yang F, Sheng M. Nuclear translocation and transcription regulation by the membrane-associated guanylate kinase CASK/LIN-2. Nature 2000; 404: 298-302.
    • (2000) Nature , vol.404 , pp. 298-302
    • Hsueh, Y.1    Wang, T.2    Yang, F.3    Sheng, M.4
  • 17
    • 0035871209 scopus 로고    scopus 로고
    • Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q
    • IMGSAC. Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q. Hum Mol Genet 2001; 9: 973-982.
    • (2001) Hum Mol Genet , vol.9 , pp. 973-982
  • 20
    • 17744398634 scopus 로고    scopus 로고
    • Tbr1 regulates differentiation of the preplate and layer 6
    • Hevner R, Shi L, Justice N, Hsueh Y, Sheng M, Smiga S et al. Tbr1 regulates differentiation of the preplate and layer 6. Neuron 2001; 29: 353-366.
    • (2001) Neuron , vol.29 , pp. 353-366
    • Hevner, R.1    Shi, L.2    Justice, N.3    Hsueh, Y.4    Sheng, M.5    Smiga, S.6
  • 22
    • 0035847575 scopus 로고    scopus 로고
    • Coordinated expression of Hoxa2, Hoxd1 and Pax6 in the developing diencephalon
    • Wolf L, Yeung J, Doucette J, Nazarali A. Coordinated expression of Hoxa2, Hoxd1 and Pax6 in the developing diencephalon. Neuroreport 2001; 12: 329-333.
    • (2001) Neuroreport , vol.12 , pp. 329-333
    • Wolf, L.1    Yeung, J.2    Doucette, J.3    Nazarali, A.4
  • 24
    • 0025218486 scopus 로고
    • A cDNA for a human cyclic AMP response element-binding protein which is distinct from CREB and expressed preferentially in brain
    • Kara C, Liou H, Ivashkiv L, Glimcher L. A cDNA for a human cyclic AMP response element-binding protein which is distinct from CREB and expressed preferentially in brain. Mol Cell Biol 1990; 10: 1347-1357.
    • (1990) Mol Cell Biol , vol.10 , pp. 1347-1357
    • Kara, C.1    Liou, H.2    Ivashkiv, L.3    Glimcher, L.4
  • 25
    • 0034636554 scopus 로고    scopus 로고
    • ATF-2 has intrinsic histone acetyltransferase activity which is modulated by phosphorylation
    • Kawasaki H, Schiltz L, Chiu R, Itakura K, Taira K, Nakatani Y et al. ATF-2 has intrinsic histone acetyltransferase activity which is modulated by phosphorylation. Nature 2000; 405: 195-200.
    • (2000) Nature , vol.405 , pp. 195-200
    • Kawasaki, H.1    Schiltz, L.2    Chiu, R.3    Itakura, K.4    Taira, K.5    Nakatani, Y.6
  • 27
    • 0342635450 scopus 로고    scopus 로고
    • A highly conserved enhancer in the Dlx5/Dlx6 intergenic region is the site of cross-regulatory interactions between Dlx genes in the embryonic forebrain
    • Zerucha T, Stumer T, Hatch G, Park BK, Long Q, Yu G et al. A highly conserved enhancer in the Dlx5/Dlx6 intergenic region is the site of cross-regulatory interactions between Dlx genes in the embryonic forebrain. J Neurosci 2000; 20: 709-721.
    • (2000) J Neurosci , vol.20 , pp. 709-721
    • Zerucha, T.1    Stumer, T.2    Hatch, G.3    Park, B.K.4    Long, Q.5    Yu, G.6
  • 28
    • 0036337338 scopus 로고    scopus 로고
    • Ectopic expression of the Dlx genes induces glutamic acid decarboxylase and Dlx expression
    • Stuhmer T, Anderson S, Ekker M, Rubenstein J. Ectopic expression of the Dlx genes induces glutamic acid decarboxylase and Dlx expression. Development 2002; 129: 245-252.
    • (2002) Development , vol.129 , pp. 245-252
    • Stuhmer, T.1    Anderson, S.2    Ekker, M.3    Rubenstein, J.4
  • 30
    • 0037108019 scopus 로고    scopus 로고
    • Glutamic acid decarboxylase 65 and 67 kDa proteins are reduced in autistic parietal and cerebellar cortices
    • Fatemi S, Halt A, Stary J, Kanodia R, Schulz S, Realmuto G. Glutamic acid decarboxylase 65 and 67 kDa proteins are reduced in autistic parietal and cerebellar cortices. Biol Psychiatry 2002; 52: 805-810.
    • (2002) Biol Psychiatry , vol.52 , pp. 805-810
    • Fatemi, S.1    Halt, A.2    Stary, J.3    Kanodia, R.4    Schulz, S.5    Realmuto, G.6
  • 33
    • 0027282112 scopus 로고
    • Alpha 2-chimerin, an SH2-containing GTPase-activating protein for the ras-related protein p21rac derived by alternate splicing of the human n-chimerin gene, is selectively expressed in brain regions and testes
    • Hall C, Sin WC, Teo M, Michael GJ, Smith P, Dong JM et al. Alpha 2-chimerin, an SH2-containing GTPase-activating protein for the ras-related protein p21rac derived by alternate splicing of the human n-chimerin gene, is selectively expressed in brain regions and testes. Mol Cell Biol 1993; 13: 4986-4998.
    • (1993) Mol Cell Biol , vol.13 , pp. 4986-4998
    • Hall, C.1    Sin, W.C.2    Teo, M.3    Michael, G.J.4    Smith, P.5    Dong, J.M.6
  • 34
    • 0027997172 scopus 로고
    • Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders
    • Lord C, Rutter M, Le Couteur A. Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 1994; 24: 659-685.
    • (1994) J Autism Dev Disord , vol.24 , pp. 659-685
    • Lord, C.1    Rutter, M.2    Le Couteur, A.3
  • 36
    • 0033802632 scopus 로고    scopus 로고
    • The autism diagnostic observation schedule-generic: A standard measure of social and communication deficits associated with the spectrum of autism
    • Lord C, Risi S, Lambrecht L, Cook Jr EH, Leventhal BL, DiLavore PC et al. The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord 2000; 30: 205-223.
    • (2000) J Autism Dev Disord , vol.30 , pp. 205-223
    • Lord, C.1    Risi, S.2    Lambrecht, L.3    Cook Jr., E.H.4    Leventhal, B.L.5    DiLavore, P.C.6
  • 37
    • 0033910787 scopus 로고    scopus 로고
    • A test for linkage and association in general pedigrees: The pedigree disequilibrium test
    • Martin E, Monks S, Warren L, Kaplan N. A test for linkage and association in general pedigrees: the pedigree disequilibrium test. Am J Hum Genet 2000; 67: 146-154.
    • (2000) Am J Hum Genet , vol.67 , pp. 146-154
    • Martin, E.1    Monks, S.2    Warren, L.3    Kaplan, N.4
  • 38
    • 0034017850 scopus 로고    scopus 로고
    • GOLD-graphical overview of linkage disequilibrium
    • Abecasis G, Cookson W. GOLD-graphical overview of linkage disequilibrium. Bioinformatics 2000; 16: 182-183.
    • (2000) Bioinformatics , vol.16 , pp. 182-183
    • Abecasis, G.1    Cookson, W.2
  • 39
    • 0032700272 scopus 로고    scopus 로고
    • Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus
    • Malecki M, Jhala U, Antonellis A, Fields L, Doria A, Orban T et al. Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. Nat Genet 1999; 23: 323-328.
    • (1999) Nat Genet , vol.23 , pp. 323-328
    • Malecki, M.1    Jhala, U.2    Antonellis, A.3    Fields, L.4    Doria, A.5    Orban, T.6
  • 40
    • 0034969437 scopus 로고    scopus 로고
    • Are rare variants responsible for susceptibility to complex diseases?
    • Pritchard J. Are rare variants responsible for susceptibility to complex diseases? Am J Hum Genet 2001; 69: 124-137.
    • (2001) Am J Hum Genet , vol.69 , pp. 124-137
    • Pritchard, J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.