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Volumn 51, Issue 10, 2014, Pages 677-688

The clinical significance of small copy number variants in neurodevelopmental disorders

(25)  Asadollahi, Reza a   Oneda, Beatrice a   Joset, Pascal a   Azzarello Burri, Silvia a   Bartholdi, Deborah a   Steindl, Katharina a   Vincent, Marie a   Cobilanschi, Joana a   Sticht, Heinrich b   Baldinger, Rosa a   Reissmann, Regina a   Sudholt, Irene a   Thiel, Christian T b   Ekici, Arif B b   Reis, André b   Bijlsma, Emilia K c   Andrieux, Joris d   Dieux, Anne d   FitzPatrick, David e   Ritter, Susanne f   more..


Author keywords

[No Author keywords available]

Indexed keywords

DNA;

EID: 84911387083     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102588     Document Type: Article
Times cited : (73)

References (60)
  • 1
    • 33749043929 scopus 로고    scopus 로고
    • Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders
    • Lee JA, Lupski JR. Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron 2006;52:103-21.
    • (2006) Neuron , vol.52 , pp. 103-121
    • Lee, J.A.1    Lupski, J.R.2
  • 2
    • 84893708713 scopus 로고    scopus 로고
    • A de novo convergence of autism genetics and molecular neuroscience
    • Krumm N, O'Roak BJ, Shendure J, Eichler EE. A de novo convergence of autism genetics and molecular neuroscience. Trends Neurosci 2014;37:95-105.
    • (2014) Trends Neurosci , vol.37 , pp. 95-105
    • Krumm, N.1    O'Roak, B.J.2    Shendure, J.3    Eichler, E.E.4
  • 3
    • 77957968873 scopus 로고    scopus 로고
    • Genetics of early onset cognitive impairment
    • Ropers HH. Genetics of early onset cognitive impairment. Annu Rev Genomics Hum Genet 2010;11:161-87.
    • (2010) Annu Rev Genomics Hum Genet , vol.11 , pp. 161-187
    • Ropers, H.H.1
  • 11
    • 0034567210 scopus 로고    scopus 로고
    • Comparative protein structure modeling. Introduction and practical examples with modeller
    • Sanchez R, Sali A. Comparative protein structure modeling. Introduction and practical examples with modeller. Methods Mol Biol 2000;143:97-129.
    • (2000) Methods Mol Biol , vol.143 , pp. 97-129
    • Sanchez, R.1    Sali, A.2
  • 12
    • 84861406736 scopus 로고    scopus 로고
    • The structural basis for the oligomerization of the N-terminal domain of SATB1
    • Wang Z, Yang X, Chu X, Zhang J, Zhou H, Shen Y, Long J. The structural basis for the oligomerization of the N-terminal domain of SATB1. Nucleic Acids Res 2012;40:4193-202.
    • (2012) Nucleic Acids Res , vol.40 , pp. 4193-4202
    • Wang, Z.1    Yang, X.2    Chu, X.3    Zhang, J.4    Zhou, H.5    Shen, Y.6    Long, J.7
  • 16
    • 70350780459 scopus 로고    scopus 로고
    • Delta-catenin is required for the maintenance of neural structure and function in mature cortex in vivo
    • Matter C, Pribadi M, Liu X, Trachtenberg JT. Delta-catenin is required for the maintenance of neural structure and function in mature cortex in vivo. Neuron 2009;64:320-7.
    • (2009) Neuron , vol.64 , pp. 320-327
    • Matter, C.1    Pribadi, M.2    Liu, X.3    Trachtenberg, J.T.4
  • 17
    • 0034009881 scopus 로고    scopus 로고
    • Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome
    • Medina M, Marinescu RC, Overhauser J, Kosik KS. Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome. Genomics 2000;63:157-64.
    • (2000) Genomics , vol.63 , pp. 157-164
    • Medina, M.1    Marinescu, R.C.2    Overhauser, J.3    Kosik, K.S.4
  • 32
    • 0033811951 scopus 로고    scopus 로고
    • Characterization of TH1 and CTSZ, two non-imprinted genes downstream of GNAS1 in chromosome 20q13
    • Bonthron DT, Hayward BE, Moran V, Strain L. Characterization of TH1 and CTSZ, two non-imprinted genes downstream of GNAS1 in chromosome 20q13. Hum Genet 2000;107:165-75.
    • (2000) Hum Genet , vol.107 , pp. 165-175
    • Bonthron, D.T.1    Hayward, B.E.2    Moran, V.3    Strain, L.4
  • 33
    • 0036201137 scopus 로고    scopus 로고
    • Identification of TH1 as an interaction partner of A-Raf kinase
    • Yin XL, Chen S, Gu JX. Identification of TH1 as an interaction partner of A-Raf kinase. Mol Cell Biochem 2002;231:69-74.
    • (2002) Mol Cell Biochem , vol.231 , pp. 69-74
    • Yin, X.L.1    Chen, S.2    Gu, J.X.3
  • 35
    • 34247269029 scopus 로고    scopus 로고
    • TAO kinases mediate activation of p38 in response to DNA damage
    • Raman M, Earnest S, Zhang K, Zhao Y, Cobb MH. TAO kinases mediate activation of p38 in response to DNA damage. EMBO J 2007;26:2005-14.
    • (2007) EMBO J , vol.26 , pp. 2005-2014
    • Raman, M.1    Earnest, S.2    Zhang, K.3    Zhao, Y.4    Cobb, M.H.5
  • 36
    • 33746942671 scopus 로고    scopus 로고
    • Raf kinase inhibitory protein regulates aurora B kinase and the spindle checkpoint
    • Eves EM, Shapiro P, Naik K, Klein UR, Trakul N, Rosner MR. Raf kinase inhibitory protein regulates aurora B kinase and the spindle checkpoint. Mol Cell 2006;23:561-74.
    • (2006) Mol Cell , vol.23 , pp. 561-574
    • Eves, E.M.1    Shapiro, P.2    Naik, K.3    Klein, U.R.4    Trakul, N.5    Rosner, M.R.6
  • 37
    • 84880717181 scopus 로고    scopus 로고
    • Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria
    • Bartholdi D, Asadollahi R, Oneda B, Schmitt-Mechelke T, Tonella P, Baumer A, Rauch A. Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria. Am J Med Genet A 2013;161A:1853-9.
    • (2013) Am J Med Genet A , vol.161 A , pp. 1853-1859
    • Bartholdi, D.1    Asadollahi, R.2    Oneda, B.3    Schmitt-Mechelke, T.4    Tonella, P.5    Baumer, A.6    Rauch, A.7
  • 38
    • 77956394560 scopus 로고    scopus 로고
    • Functional and structural properties of mammalian acyl-coenzyme A thioesterases
    • Kirkby B, Roman N, Kobe B, Kellie S, Forwood JK. Functional and structural properties of mammalian acyl-coenzyme A thioesterases. Prog Lipid Res 2010;49:366-77.
    • (2010) Prog Lipid Res , vol.49 , pp. 366-377
    • Kirkby, B.1    Roman, N.2    Kobe, B.3    Kellie, S.4    Forwood, J.K.5
  • 39
    • 34250712870 scopus 로고    scopus 로고
    • Alternative exon usage selectively determines both tissue distribution and subcellular localization of the acyl-CoA thioesterase 7 gene products
    • Hunt MC, Greene S, Hultenby K, Svensson LT, Engberg S, Alexson SE. Alternative exon usage selectively determines both tissue distribution and subcellular localization of the acyl-CoA thioesterase 7 gene products. Cell Mol Life Sci 2007;64:1558-70.
    • (2007) Cell Mol Life Sci , vol.64 , pp. 1558-1570
    • Hunt, M.C.1    Greene, S.2    Hultenby, K.3    Svensson, L.T.4    Engberg, S.5    Alexson, S.E.6
  • 41
    • 13244292314 scopus 로고    scopus 로고
    • Identification of fatty acid oxidation disorder patients with lowered acyl-CoA thioesterase activity in human skin fibroblasts
    • Hunt MC, Ruiter J, Mooyer P, van Roermond CW, Ofman R, Ijlst L, Wanders RJ. Identification of fatty acid oxidation disorder patients with lowered acyl-CoA thioesterase activity in human skin fibroblasts. Eur J Clin Invest 2005;35:38-46.
    • (2005) Eur J Clin Invest , vol.35 , pp. 38-46
    • Hunt, M.C.1    Ruiter, J.2    Mooyer, P.3    van Roermond, C.W.4    Ofman, R.5    Ijlst, L.6    Wanders, R.J.7
  • 42
    • 12144262058 scopus 로고    scopus 로고
    • Aberrant cytosolic acyl-CoA thioester hydrolase in hippocampus of patients with mesial temporal lobe epilepsy
    • Yang JW, Czech T, Yamada J, Csaszar E, Baumgartner C, Slavc I, Lubec G. Aberrant cytosolic acyl-CoA thioester hydrolase in hippocampus of patients with mesial temporal lobe epilepsy. Amino Acids 2004;27:269-75.
    • (2004) Amino Acids , vol.27 , pp. 269-275
    • Yang, J.W.1    Czech, T.2    Yamada, J.3    Csaszar, E.4    Baumgartner, C.5    Slavc, I.6    Lubec, G.7
  • 43
    • 84876472084 scopus 로고    scopus 로고
    • Acyl coenzyme A thioesterase 7 regulates neuronal fatty acid metabolism to prevent neurotoxicity
    • Ellis JM, Wong GW, Wolfgang MJ. Acyl coenzyme A thioesterase 7 regulates neuronal fatty acid metabolism to prevent neurotoxicity. Mol Cell Biol 2013;33:1869-82.
    • (2013) Mol Cell Biol , vol.33 , pp. 1869-1882
    • Ellis, J.M.1    Wong, G.W.2    Wolfgang, M.J.3
  • 54
    • 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. 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 2011;155A:2386-96.
    • (2011) Am J Med Genet A , vol.155 A , 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
  • 60
    • 67649172875 scopus 로고    scopus 로고
    • Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia
    • Haverfield EV, Whited AJ, Petras KS, Dobyns WB, Das S. Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia. Eur J Hum Genet 2009;17: 911-18
    • (2009) Eur J Hum Genet , vol.17 , pp. 911-918
    • Haverfield, E.V.1    Whited, A.J.2    Petras, K.S.3    Dobyns, W.B.4    Das, S.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.