메뉴 건너뛰기




Volumn 76, Issue 5, 2014, Pages 758-764

Absent CNKSR2 causes seizures and intellectual, attention, and language deficits

(17)  Vaags, Andrea K a,b,c   Bowdin, Sarah d,e   Smith, Mary Lou d,f   Gilbert Dussardier, Brigitte g   Brocke Holmefjord, Katja S h   Sinopoli, Katia d   Gilles, Cindy i   Haaland, Tove B h   Vincent Delorme, Catherine j   Lagrue, Emmanuelle i   Harbuz, Radu g   Walker, Susan a,d   Marshall, Christian R a,d,e,f   Houge, Gunnar k   Kalscheuer, Vera M l   Scherer, Stephen W a,d,e,f   Minassian, Berge A d,e  


Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN CNKSR2; PROTEIN DERIVATIVE; UNCLASSIFIED DRUG; CNKSR2 PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

EID: 84912131754     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24274     Document Type: Article
Times cited : (42)

References (22)
  • 1
    • 78650680152 scopus 로고    scopus 로고
    • Characterization of the proteome, diseases and evolution of the human postsynaptic density
    • Bayes A, van de Lagemaat LN, Collins MO, et al. Characterization of the proteome, diseases and evolution of the human postsynaptic density. Nat Neurosci 2011;14:19-21.
    • (2011) Nat Neurosci , vol.14 , pp. 19-21
    • Bayes, A.1    Van De Lagemaat, L.N.2    Collins, M.O.3
  • 2
    • 58549092371 scopus 로고    scopus 로고
    • Organization and dynamics of PDZ-domainrelated supramodules in the postsynaptic density
    • Feng W, Zhang M. Organization and dynamics of PDZ-domainrelated supramodules in the postsynaptic density. Nat Rev Neurosci 2009;10:87-99.
    • (2009) Nat Rev Neurosci , vol.10 , pp. 87-99
    • Feng, W.1    Zhang, M.2
  • 3
    • 1842536859 scopus 로고    scopus 로고
    • CNK2 couples NGF signal propagation to multiple regulatory cascades driving cell differentiation
    • Bumeister R, Rosse C, Anselmo A, et al. CNK2 couples NGF signal propagation to multiple regulatory cascades driving cell differentiation. Curr Biol 2004;14:439-445.
    • (2004) Curr Biol , vol.14 , pp. 439-445
    • Bumeister, R.1    Rosse, C.2    Anselmo, A.3
  • 4
    • 69649098398 scopus 로고    scopus 로고
    • Proteomic characterization of the dynamic KSR-2 interactome, a signaling scaffold complex in MAPK pathway
    • Liu L, Channavajhala PL, Rao VR, et al. Proteomic characterization of the dynamic KSR-2 interactome, a signaling scaffold complex in MAPK pathway. Biochim Biophys Acta 2009;1794:1485-1495.
    • (2009) Biochim Biophys Acta , vol.1794 , pp. 1485-1495
    • Liu, L.1    Channavajhala, P.L.2    Rao, V.R.3
  • 5
    • 0036828947 scopus 로고    scopus 로고
    • Densin-180, a synaptic protein, links to PSD-95 through its direct interaction with MAGUIN-1
    • Ohtakara K, Nishizawa M, Izawa I, et al. Densin-180, a synaptic protein, links to PSD-95 through its direct interaction with MAGUIN-1. Genes Cells 2002;7:1149-1160.
    • (2002) Genes Cells , vol.7 , pp. 1149-1160
    • Ohtakara, K.1    Nishizawa, M.2    Izawa, I.3
  • 6
    • 42949170081 scopus 로고    scopus 로고
    • CNK and HYP form a discrete dimer by their SAM domains to mediate RAF kinase signaling
    • Rajakulendran T, Sahmi M, Kurinov I, et al. CNK and HYP form a discrete dimer by their SAM domains to mediate RAF kinase signaling. Proc Natl Acad Sci U S A 2008;105:2836-2841.
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 2836-2841
    • Rajakulendran, T.1    Sahmi, M.2    Kurinov, I.3
  • 7
    • 0034643259 scopus 로고    scopus 로고
    • Association of membraneassociated guanylate kinase-interacting protein-1 with Raf-1
    • Yao I, Ohtsuka T, Kawabe H, et al. Association of membraneassociated guanylate kinase-interacting protein-1 with Raf-1. Biochem Biophys Res Commun 2000;270:538-542.
    • (2000) Biochem Biophys Res Commun , vol.270 , pp. 538-542
    • Yao, I.1    Ohtsuka, T.2    Kawabe, H.3
  • 8
    • 0242695654 scopus 로고    scopus 로고
    • Human homologue of Drosophila CNK interacts with Ras effector proteins Raf and Rlf
    • Lanigan TM, Liu A, Huang YZ, et al. Human homologue of Drosophila CNK interacts with Ras effector proteins Raf and Rlf. FASEB J 2003;17:2048-2060.
    • (2003) FASEB J , vol.17 , pp. 2048-2060
    • Lanigan, T.M.1    Liu, A.2    Huang, Y.Z.3
  • 9
    • 65349085563 scopus 로고    scopus 로고
    • Defining mechanisms of actin polymerization and depolymerization during dendritic spine morphogenesis
    • Hotulainen P, Llano O, Smirnov S, et al. Defining mechanisms of actin polymerization and depolymerization during dendritic spine morphogenesis. J Cell Biol 2009;185:323-339.
    • (2009) J Cell Biol , vol.185 , pp. 323-339
    • Hotulainen, P.1    Llano, O.2    Smirnov, S.3
  • 10
    • 84856460833 scopus 로고    scopus 로고
    • Loss-of-function CNKSR2 mutation is a likely cause of non-syndromic X-linked intellectual disability
    • Houge G, Rasmussen IH, Hovland R. Loss-of-function CNKSR2 mutation is a likely cause of non-syndromic X-linked intellectual disability. Mol Syndromol 2012;2:60-63.
    • (2012) Mol Syndromol , vol.2 , pp. 60-63
    • Houge, G.1    Rasmussen, I.H.2    Hovland, R.3
  • 11
    • 84891783452 scopus 로고    scopus 로고
    • The Database of Genomic Variants: A curated collection of structural variation in the human genome
    • MacDonald JR, Ziman R, Yuen RK, et al. The Database of Genomic Variants: a curated collection of structural variation in the human genome. Nucleic Acids Res 2014;42(Database issue): D986-D992.
    • (2014) Nucleic Acids Res , vol.42 , pp. D986-D992
    • Macdonald, J.R.1    Ziman, R.2    Yuen, R.K.3
  • 12
    • 84875861622 scopus 로고    scopus 로고
    • Encephalopathy related to status epilepticus during slow sleep (ESES) including Landau-Kleffner syndrome
    • Bureau M, Genton P, Dravet C, et al, eds., 5th ed. London, UK: John Libbey
    • Tassinari CA, Cantalupo G, Dalla Bernardina B, et al. Encephalopathy related to status epilepticus during slow sleep (ESES) including Landau-Kleffner syndrome. In: Bureau M, Genton P, Dravet C, et al, eds. Epileptic syndromes in infancy, childhood and adolescence. 5th ed. London, UK: John Libbey, 2012:255-275.
    • (2012) Epileptic Syndromes in Infancy, Childhood and Adolescence , pp. 255-275
    • Tassinari, C.A.1    Cantalupo, G.2    Dalla Bernardina, B.3
  • 13
    • 0032574043 scopus 로고    scopus 로고
    • Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro
    • Nagase T, Ishikawa K, Miyajima N, et al. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. DNA Res 1998;5:31-39.
    • (1998) DNA Res , vol.5 , pp. 31-39
    • Nagase, T.1    Ishikawa, K.2    Miyajima, N.3
  • 14
    • 33646679140 scopus 로고    scopus 로고
    • Uncovering quantitative protein interaction networks for mouse PDZ domains using protein microarrays
    • Stiffler MA, Grantcharova VP, Sevecka M, et al. Uncovering quantitative protein interaction networks for mouse PDZ domains using protein microarrays. J Am Chem Soc 2006;128: 5913-5922.
    • (2006) J Am Chem Soc , vol.128 , pp. 5913-5922
    • Stiffler, M.A.1    Grantcharova, V.P.2    Sevecka, M.3
  • 15
    • 84873405907 scopus 로고    scopus 로고
    • Clinical genetic study of the epilepsy-aphasia spectrum
    • Tsai MH, Vears DF, Turner SJ, et al. Clinical genetic study of the epilepsy-aphasia spectrum. Epilepsia 2013;54:280-287.
    • (2013) Epilepsia , vol.54 , pp. 280-287
    • Tsai, M.H.1    Vears, D.F.2    Turner, S.J.3
  • 16
    • 0029078236 scopus 로고
    • The Landau-Kleffner syndrome
    • Appleton RE. The Landau-Kleffner syndrome. Arch Dis Child 1995;72:386-387.
    • (1995) Arch Dis Child , vol.72 , pp. 386-387
    • Appleton, R.E.1
  • 17
    • 0035002624 scopus 로고    scopus 로고
    • The nature and heritability of attentiondeficit/ hyperactivity disorder
    • viii-ix
    • Faraone SV, Doyle AE. The nature and heritability of attentiondeficit/ hyperactivity disorder. Child Adolesc Psychiatr Clin N Am 2001;10:299-316, viii-ix.
    • (2001) Child Adolesc Psychiatr Clin N Am , vol.10 , pp. 299-316
    • Faraone, S.V.1    Doyle, A.E.2
  • 19
    • 84655176643 scopus 로고    scopus 로고
    • Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder
    • Elia J, Glessner JT, Wang K, et al. Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. Nat Genet 2012;44:78-84.
    • (2012) Nat Genet , vol.44 , pp. 78-84
    • Elia, J.1    Glessner, J.T.2    Wang, K.3
  • 20
    • 80051709029 scopus 로고    scopus 로고
    • Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD
    • Lionel AC, Crosbie J, Barbosa N, et al. Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD. Sci Transl Med 2011;3:95ra75.
    • (2011) Sci Transl Med , vol.3 , pp. 95ra75
    • Lionel, A.C.1    Crosbie, J.2    Barbosa, N.3
  • 21
    • 0029790434 scopus 로고    scopus 로고
    • Attention deficit disorder: A review of the past 10 years
    • Cantwell DP. Attention deficit disorder: a review of the past 10 years. J Am Acad Child Adolesc Psychiatry 1996;35:978-987.
    • (1996) J Am Acad Child Adolesc Psychiatry , vol.35 , pp. 978-987
    • Cantwell, D.P.1
  • 22
    • 84877306707 scopus 로고    scopus 로고
    • Manolio TA. EXclusion: Toward integrating the X chromosome in genome-wide association analyses
    • Wise AL, Gyi L, Manolio TA. eXclusion: toward integrating the X chromosome in genome-wide association analyses. Am J Hum Genet 2013;92:643-647.
    • (2013) Am J Hum Genet , vol.92 , pp. 643-647
    • Wise, A.L.1    Gyi, L.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.