메뉴 건너뛰기




Volumn 52, Issue 2, 2015, Pages 111-122

CTNND2-a candidate gene for reading problems and mild intellectual disability

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ANIMAL CELL; ARCUATE FASCICULUS; ARTICLE; ATTENTION; ATTENTION DEFICIT DISORDER; BRAIN SIZE; CASE REPORT; CELL MIGRATION; CELL MOTILITY; CHILD; CHROMOSOME 1; CHROMOSOME 18; CHROMOSOME 5; CHROMOSOME 5P; CHROMOSOME 8; CHROMOSOME BREAKAGE; CHROMOSOME TRANSLOCATION; CLINICAL ASSESSMENT; COHORT ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; CTNND2 GENE; DIENCEPHALON; DNA POLYMORPHISM; DYSLEXIA; EMBRYO; FAMILY HISTORY; FEMALE; GENE; GENE FREQUENCY; GENE INTERACTION; GENE LINKAGE DISEQUILIBRIUM; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOTYPE; HUMAN; IMMUNOFLUORESCENCE; IN SITU HYBRIDIZATION; IN VIVO STUDY; INTELLECTUAL IMPAIRMENT; INTELLIGENCE; INTRON; JOINT LAXITY; KARYOTYPING; LEARNING DISORDER; LONGITUDINAL STUDY; LOSS OF FUNCTION MUTATION; MALE; MICROARRAY ANALYSIS; MOSAICISM; MYOPIA; NONHUMAN; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RECIPROCAL CHROMOSOME TRANSLOCATION; SCHOOL CHILD; SEGREGATION ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPEECH DELAY; SPONTANEOUS ABORTION; SUICIDE; TANDEM REPEAT; TASK PERFORMANCE; TELENCEPHALON; WHITE MATTER; WHOLE GENOME SEQUENCING; YOUNG ADULT; ZEBRA FISH; COGNITION; DNA SEQUENCE; EXON; GENE LOCUS; GENE TRANSLOCATION; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; READING;

EID: 84926069093     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102757     Document Type: Article
Times cited : (31)

References (72)
  • 1
    • 0025941775 scopus 로고
    • De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints
    • Warburton D. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet 1991;49:995-1013.
    • (1991) Am J Hum Genet , vol.49 , pp. 995-1013
    • Warburton, D.1
  • 8
    • 0033178468 scopus 로고    scopus 로고
    • The arm-repeat protein NPRAP (neurojungin) is a constituent of the plaques of the outer limiting zone in the retina, defining a novel type of adhering junction
    • Paffenholz R, Kuhn C, Grund C, Stehr S, Franke WW. The arm-repeat protein NPRAP (neurojungin) is a constituent of the plaques of the outer limiting zone in the retina, defining a novel type of adhering junction. Exp Cell Res 1999;250:452-64.
    • (1999) Exp Cell Res , vol.250 , pp. 452-464
    • Paffenholz, R.1    Kuhn, C.2    Grund, C.3    Stehr, S.4    Franke, W.W.5
  • 13
    • 4544246530 scopus 로고    scopus 로고
    • Deletion of the neuron-specific protein delta-catenin leads to severe cognitive and synaptic dysfunction
    • Israely I, Costa RM, Xie CW, Silva AJ, Kosik KS, Liu X. Deletion of the neuron-specific protein delta-catenin leads to severe cognitive and synaptic dysfunction. Curr Biol 2004;14:1657-63.
    • (2004) Curr Biol , vol.14 , pp. 1657-1663
    • Israely, I.1    Costa, R.M.2    Xie, C.W.3    Silva, A.J.4    Kosik, K.S.5    Liu, X.6
  • 14
    • 0034193854 scopus 로고    scopus 로고
    • delta-catenin is a nervous system-specific adherens junction protein which undergoes dynamic relocalization during development
    • Ho C, Zhou J, Medina M, Goto T, Jacobson M, Bhide PG, Kosik KS. delta-catenin is a nervous system-specific adherens junction protein which undergoes dynamic relocalization during development. J Comp Neurol 2000;420:261-76.
    • (2000) J Comp Neurol , vol.420 , pp. 261-276
    • Ho, C.1    Zhou, J.2    Medina, M.3    Goto, T.4    Jacobson, M.5    Bhide, P.G.6    Kosik, K.S.7
  • 15
    • 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
    • 65649091684 scopus 로고    scopus 로고
    • Delta-catenin regulates spine and synapse morphogenesis and function in hippocampal neurons during development
    • Arikkath J, Peng IF, Ng YG, Israely I, Liu X, Ullian EM, Reichardt LF. Delta-catenin regulates spine and synapse morphogenesis and function in hippocampal neurons during development. J Neurosci 2009;29:5435-42.
    • (2009) J Neurosci , vol.29 , pp. 5435-5442
    • Arikkath, J.1    Peng, I.F.2    Ng, Y.G.3    Israely, I.4    Liu, X.5    Ullian, E.M.6    Reichardt, L.F.7
  • 18
    • 0036500983 scopus 로고    scopus 로고
    • Brain armadillo protein delta-catenin interacts with Abl tyrosine kinase and modulates cellular morphogenesis in response to growth factors
    • Lu Q, Mukhopadhyay NK, Griffin JD, Paredes M, Medina M, Kosik KS. Brain armadillo protein delta-catenin interacts with Abl tyrosine kinase and modulates cellular morphogenesis in response to growth factors. J Neurosci Res 2002;67:618-24.
    • (2002) J Neurosci Res , vol.67 , pp. 618-624
    • Lu, Q.1    Mukhopadhyay, N.K.2    Griffin, J.D.3    Paredes, M.4    Medina, M.5    Kosik, K.S.6
  • 22
    • 77953943569 scopus 로고    scopus 로고
    • Improved structural characterization of chromosomal breakpoints using high resolution custom array-CGH
    • Lindstrand A, Schoumans J, Gustavsson P, Hanemaaijer N, Malmgren H, Blennow E. Improved structural characterization of chromosomal breakpoints using high resolution custom array-CGH. Clin Genet 2010;77:552-62.
    • (2010) Clin Genet , vol.77 , pp. 552-562
    • Lindstrand, A.1    Schoumans, J.2    Gustavsson, P.3    Hanemaaijer, N.4    Malmgren, H.5    Blennow, E.6
  • 25
    • 40649116662 scopus 로고    scopus 로고
    • Developmental dyslexia and the dual route model of reading: simulating individual differences and subtypes
    • Ziegler JC, Castel C, Pech-Georgel C, George F, Alario FX, Perry C. Developmental dyslexia and the dual route model of reading: simulating individual differences and subtypes. Cognition 2008;107:151-78.
    • (2008) Cognition , vol.107 , pp. 151-178
    • Ziegler, J.C.1    Castel, C.2    Pech-Georgel, C.3    George, F.4    Alario, F.X.5    Perry, C.6
  • 26
    • 0034904642 scopus 로고    scopus 로고
    • Inhibition of zebrafish fgf8 pre-mRNA splicing with morpholino oligos: a quantifiable method for gene knockdown
    • Draper BW, Morcos PA, Kimmel CB. Inhibition of zebrafish fgf8 pre-mRNA splicing with morpholino oligos: a quantifiable method for gene knockdown. Genesis 2001;30:154-6.
    • (2001) Genesis , vol.30 , pp. 154-156
    • Draper, B.W.1    Morcos, P.A.2    Kimmel, C.B.3
  • 28
    • 0347719635 scopus 로고    scopus 로고
    • Identifying axon guidance defects in the embryonic zebrafish brain
    • Devine CA, Key B. Identifying axon guidance defects in the embryonic zebrafish brain. Methods Cell Sci 2003;25:33-7.
    • (2003) Methods Cell Sci , vol.25 , pp. 33-37
    • Devine, C.A.1    Key, B.2
  • 29
    • 38149126474 scopus 로고    scopus 로고
    • High-resolution in situ hybridization to whole-mount zebrafish embryos
    • Thisse C, Thisse B. High-resolution in situ hybridization to whole-mount zebrafish embryos. Nat Protoc 2008;3:59-69.
    • (2008) Nat Protoc , vol.3 , pp. 59-69
    • Thisse, C.1    Thisse, B.2
  • 30
    • 0031114483 scopus 로고    scopus 로고
    • GeneCards: integrating information about genes, proteins and diseases
    • Rebhan M, Chalifa-Caspi V, Prilusky J, Lancet D. GeneCards: integrating information about genes, proteins and diseases. Trends Genet 1997;13:163.
    • (1997) Trends Genet , vol.13 , pp. 163
    • Rebhan, M.1    Chalifa-Caspi, V.2    Prilusky, J.3    Lancet, D.4
  • 31
    • 84866628802 scopus 로고    scopus 로고
    • Three dyslexia susceptibility genes, DYX1C1, DCDC2, and KIAA0319, affect temporo-parietal white matter structure
    • Darki F, Peyrard-Janvid M, Matsson H, Kere J, Klingberg T. Three dyslexia susceptibility genes, DYX1C1, DCDC2, and KIAA0319, affect temporo-parietal white matter structure. Biol Psychiatry 2012;72:671-6.
    • (2012) Biol Psychiatry , vol.72 , pp. 671-676
    • Darki, F.1    Peyrard-Janvid, M.2    Matsson, H.3    Kere, J.4    Klingberg, T.5
  • 32
    • 0035862885 scopus 로고    scopus 로고
    • Are pioneer axons guided by regulatory gene expression domains in the zebrafish forebrain? High-resolution analysis of the patterning of the zebrafish brain during axon tract formation
    • Hjorth JT, Key B. Are pioneer axons guided by regulatory gene expression domains in the zebrafish forebrain? High-resolution analysis of the patterning of the zebrafish brain during axon tract formation. Dev Biol 2001;229:271-86.
    • (2001) Dev Biol , vol.229 , pp. 271-286
    • Hjorth, J.T.1    Key, B.2
  • 33
    • 0027209233 scopus 로고
    • Zebrafish primary neurons initiate expression of the LIM homeodomain protein Isl-1 at the end of gastrulation
    • Korzh V, Edlund T, Thor S. Zebrafish primary neurons initiate expression of the LIM homeodomain protein Isl-1 at the end of gastrulation. Development 1993;118:417-25.
    • (1993) Development , vol.118 , pp. 417-425
    • Korzh, V.1    Edlund, T.2    Thor, S.3
  • 35
    • 77949831756 scopus 로고    scopus 로고
    • Structural variation in the human genome and its role in disease
    • Stankiewicz P, Lupski JR. Structural variation in the human genome and its role in disease. Annu Rev Med 2010;61:437-55.
    • (2010) Annu Rev Med , vol.61 , pp. 437-455
    • Stankiewicz, P.1    Lupski, J.R.2
  • 40
    • 59249105978 scopus 로고    scopus 로고
    • A microhomology-mediated break-induced replication model for the origin of human copy number variation
    • Hastings PJ, Ira G, Lupski JR. A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet 2009;5:e1000327.
    • (2009) PLoS Genet , vol.5
    • Hastings, P.J.1    Ira, G.2    Lupski, J.R.3
  • 41
    • 37349109667 scopus 로고    scopus 로고
    • A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders
    • Lee JA, Carvalho CM, Lupski JR. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell 2007;131:1235-47.
    • (2007) Cell , vol.131 , pp. 1235-1247
    • Lee, J.A.1    Carvalho, C.M.2    Lupski, J.R.3
  • 42
    • 84922063978 scopus 로고    scopus 로고
    • Reaching a CNV milestone
    • Beaudet AL. Reaching a CNV milestone. Nat Genet 2014;46:1046-8.
    • (2014) Nat Genet , vol.46 , pp. 1046-1048
    • Beaudet, A.L.1
  • 43
    • 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
  • 44
    • 84902550926 scopus 로고    scopus 로고
    • Amelioration of the typical cognitive phenotype in a patient with the 5pter deletion associated with Cri-du-chat syndrome in addition to a partial duplication of CTNND2
    • Sardina JM, Walters AR, Singh KE, Owen RX, Kimonis VE. Amelioration of the typical cognitive phenotype in a patient with the 5pter deletion associated with Cri-du-chat syndrome in addition to a partial duplication of CTNND2. Am J Med Genet A 2014;164:1761-4.
    • (2014) Am J Med Genet A , vol.164 , pp. 1761-1764
    • Sardina, J.M.1    Walters, A.R.2    Singh, K.E.3    Owen, R.X.4    Kimonis, V.E.5
  • 48
    • 0001344058 scopus 로고    scopus 로고
    • The role of inferior frontal cortex in phonological processing
    • Burton MW. The role of inferior frontal cortex in phonological processing. Cognitive Science 2001(25):695-709.
    • (2001) Cognitive Science , Issue.25 , pp. 695-709
    • Burton, M.W.1
  • 49
    • 84857515739 scopus 로고    scopus 로고
    • A tractography study in dyslexia: neuroanatomic correlates of orthographic, phonological and speech processing
    • Vandermosten M, Boets B, Poelmans H, Sunaert S, Wouters J, Ghesquiere P. A tractography study in dyslexia: neuroanatomic correlates of orthographic, phonological and speech processing. Brain 2012;135(Pt 3):935-48.
    • (2012) Brain , vol.135 , pp. 935-948
    • Vandermosten, M.1    Boets, B.2    Poelmans, H.3    Sunaert, S.4    Wouters, J.5    Ghesquiere, P.6
  • 52
    • 84908654152 scopus 로고    scopus 로고
    • The molecular genetics and neurobiology of developmental dyslexia as model of a complex phenotype
    • Kere J. The molecular genetics and neurobiology of developmental dyslexia as model of a complex phenotype. Biochem Biophys Res Commun 2014;452:236-43.
    • (2014) Biochem Biophys Res Commun , vol.452 , pp. 236-243
    • Kere, J.1
  • 56
    • 67649789017 scopus 로고    scopus 로고
    • S100B Protein Regulates Astrocyte Shape and Migration via Interaction with Src Kinase: implications for astrocyte development, activation, and tumor growth
    • Brozzi F, Arcuri C, Giambanco I, Donato R. S100B Protein Regulates Astrocyte Shape and Migration via Interaction with Src Kinase: implications for astrocyte development, activation, and tumor growth. J Biol Chem 2009;284:8797-811.
    • (2009) J Biol Chem , vol.284 , pp. 8797-8811
    • Brozzi, F.1    Arcuri, C.2    Giambanco, I.3    Donato, R.4
  • 62
    • 0038790277 scopus 로고    scopus 로고
    • Distinguishing between directional guidance and motility regulation in neuronal migration
    • Ward M, McCann C, DeWulf M, Wu JY, Rao Y. Distinguishing between directional guidance and motility regulation in neuronal migration. J Neurosci 2003;23:5170-7.
    • (2003) J Neurosci , vol.23 , pp. 5170-5177
    • Ward, M.1    McCann, C.2    DeWulf, M.3    Wu, J.Y.4    Rao, Y.5
  • 66
    • 0025648329 scopus 로고
    • Developmental dyslexia in women: neuropathological findings in three patients
    • Humphreys P, Kaufmann WE, Galaburda AM. Developmental dyslexia in women: neuropathological findings in three patients. Ann Neurol 1990;28:727-38.
    • (1990) Ann Neurol , vol.28 , pp. 727-738
    • Humphreys, P.1    Kaufmann, W.E.2    Galaburda, A.M.3
  • 68
    • 84901313542 scopus 로고    scopus 로고
    • Isl1 directly controls a cholinergic neuronal identity in the developing forebrain and spinal cord by forming cell type-specific complexes
    • Cho HH, Cargnin F, Kim Y, Lee B, Kwon RJ, Nam H, Shen R, Barnes AP, Lee JW, Lee S, Lee SK. Isl1 directly controls a cholinergic neuronal identity in the developing forebrain and spinal cord by forming cell type-specific complexes. PLoS Genet 2014;10:e1004280.
    • (2014) PLoS Genet , vol.10
    • Cho, H.H.1    Cargnin, F.2    Kim, Y.3    Lee, B.4    Kwon, R.J.5    Nam, H.6    Shen, R.7    Barnes, A.P.8    Lee, J.W.9    Lee, S.10    Lee, S.K.11


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.