메뉴 건너뛰기




Volumn 43, Issue 1, 2010, Pages 35-40

Ocular MECP2 Protein Expression in Patients With and Without Rett Syndrome

Author keywords

[No Author keywords available]

Indexed keywords

METHYL CPG BINDING PROTEIN 2; NUCLEAR PROTEIN;

EID: 77953010061     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2010.02.018     Document Type: Article
Times cited : (14)

References (36)
  • 1
    • 0037081840 scopus 로고    scopus 로고
    • Insight into Rett syndrome: MECP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation
    • Shahbazian M.D., Antalffy B., Armstrong D.L., et al. Insight into Rett syndrome: MECP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Hum Mol Genet 11 (2002) 115-124
    • (2002) Hum Mol Genet , vol.11 , pp. 115-124
    • Shahbazian, M.D.1    Antalffy, B.2    Armstrong, D.L.3
  • 2
    • 0023798843 scopus 로고
    • The clinical recognition and differential diagnosis of Rett syndrome
    • Suppl:S6-16
    • Trevathan E., and Naidu S. The clinical recognition and differential diagnosis of Rett syndrome. J Child Neurol (1988) 3 Suppl:S6-16
    • (1988) J Child Neurol , pp. 3
    • Trevathan, E.1    Naidu, S.2
  • 3
    • 0032830639 scopus 로고    scopus 로고
    • Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
    • Amir R.E., Van den Veyver I.B., Wan M., Tran C.Q., Francke U., and Zoghbi H.Y. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 23 (1999) 185-188
    • (1999) Nat Genet , vol.23 , pp. 185-188
    • Amir, R.E.1    Van den Veyver, I.B.2    Wan, M.3    Tran, C.Q.4    Francke, U.5    Zoghbi, H.Y.6
  • 4
    • 77958499441 scopus 로고    scopus 로고
    • International Rett Syndrome Foundation IRSF, Internet, Available at:, Accessed June, 2009
    • International Rett Syndrome Foundation (IRSF). RettBASE: IRSF MECP2 Variation Database [Internet]. Available at: http://MECP2.chw.edu.au. Accessed June, 2009.
    • RettBASE: IRSF MECP2 Variation Database
  • 5
    • 45849105557 scopus 로고    scopus 로고
    • MECP2, a key contributor to neurological disease, activates and represses transcription
    • Chahrour M., Jung S.Y., Shaw C., et al. MECP2, a key contributor to neurological disease, activates and represses transcription. Science 320 (2008) 1224-1229
    • (2008) Science , vol.320 , pp. 1224-1229
    • Chahrour, M.1    Jung, S.Y.2    Shaw, C.3
  • 6
    • 0026658662 scopus 로고
    • Characterization of MECP2, a vertebrate DNA binding protein with affinity for methylated DNA
    • Meehan R.R., Lewis J.D., and Bird A.P. Characterization of MECP2, a vertebrate DNA binding protein with affinity for methylated DNA. Nucleic Acids Res 20 (1992) 5085-5092
    • (1992) Nucleic Acids Res , vol.20 , pp. 5085-5092
    • Meehan, R.R.1    Lewis, J.D.2    Bird, A.P.3
  • 7
    • 0037280319 scopus 로고    scopus 로고
    • Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative polyadenylation
    • Balmer D., Goldstine J., Rao Y.M., and LaSalle J.M. Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative polyadenylation. J Mol Med 81 (2003) 61-68
    • (2003) J Mol Med , vol.81 , pp. 61-68
    • Balmer, D.1    Goldstine, J.2    Rao, Y.M.3    LaSalle, J.M.4
  • 8
    • 0242539771 scopus 로고    scopus 로고
    • Survey of MECP2 in the Rett syndrome and the non-Rett syndrome brain
    • Armstrong D.D., Deguchi K., and Antallfy B. Survey of MECP2 in the Rett syndrome and the non-Rett syndrome brain. J Child Neurol 18 (2003) 683-687
    • (2003) J Child Neurol , vol.18 , pp. 683-687
    • Armstrong, D.D.1    Deguchi, K.2    Antallfy, B.3
  • 9
    • 1542270771 scopus 로고    scopus 로고
    • Expression of the methyl-CpG-binding protein MECP2 in rat brain: an ontogenetic study
    • Cassel S., Revel M.O., Kelche C., and Zwiller J. Expression of the methyl-CpG-binding protein MECP2 in rat brain: an ontogenetic study. Neurobiol Dis 15 (2004) 206-211
    • (2004) Neurobiol Dis , vol.15 , pp. 206-211
    • Cassel, S.1    Revel, M.O.2    Kelche, C.3    Zwiller, J.4
  • 10
    • 65549144456 scopus 로고    scopus 로고
    • Rett syndrome astrocytes are abnormal and spread MECP2 deficiency through gap junctions
    • Maezawa I., Swanberg S., Harvey D., LaSalle J.M., and Jin L.W. Rett syndrome astrocytes are abnormal and spread MECP2 deficiency through gap junctions. J Neurosci 29 (2009) 5051-5061
    • (2009) J Neurosci , vol.29 , pp. 5051-5061
    • Maezawa, I.1    Swanberg, S.2    Harvey, D.3    LaSalle, J.M.4    Jin, L.W.5
  • 11
    • 60749102039 scopus 로고    scopus 로고
    • Non-cell autonomous influence of MECP2-deficient glia on neuronal dendritic morphology
    • Ballas N., Lioy D.T., Grunseich C., and Mandel G. Non-cell autonomous influence of MECP2-deficient glia on neuronal dendritic morphology. Nat Neurosci 12 (2009) 311-317
    • (2009) Nat Neurosci , vol.12 , pp. 311-317
    • Ballas, N.1    Lioy, D.T.2    Grunseich, C.3    Mandel, G.4
  • 13
    • 0025266725 scopus 로고
    • Evoked potentials in the Rett syndrome
    • Kalmanchey R. Evoked potentials in the Rett syndrome. Brain Dev 12 (1990) 73-76
    • (1990) Brain Dev , vol.12 , pp. 73-76
    • Kalmanchey, R.1
  • 14
    • 27144484259 scopus 로고    scopus 로고
    • Neurophysiology of Rett syndrome
    • Glaze D.G. Neurophysiology of Rett syndrome. J Child Neurol 20 (2005) 740-746
    • (2005) J Child Neurol , vol.20 , pp. 740-746
    • Glaze, D.G.1
  • 15
    • 41149136769 scopus 로고    scopus 로고
    • Selective cerebral volume reduction in Rett syndrome: a multiple-approach MR imaging study
    • Carter J.C., Lanham D.C., Pham D., Bibat G., Naidu S., and Kaufmann W.E. Selective cerebral volume reduction in Rett syndrome: a multiple-approach MR imaging study. AJNR Am J Neuroradiol 29 (2008) 436-441
    • (2008) AJNR Am J Neuroradiol , vol.29 , pp. 436-441
    • Carter, J.C.1    Lanham, D.C.2    Pham, D.3    Bibat, G.4    Naidu, S.5    Kaufmann, W.E.6
  • 16
    • 0035201049 scopus 로고    scopus 로고
    • Rett syndrome: neuropathology review 2000
    • Armstrong D.D. Rett syndrome: neuropathology review 2000. Brain Dev 23 Suppl. 1 (2001) S72-S76
    • (2001) Brain Dev , vol.23 , Issue.SUPPL. 1
    • Armstrong, D.D.1
  • 17
    • 0022460194 scopus 로고
    • Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence
    • Hagberg B., and Witt-Engerström I. Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence. Am J Med Genet Suppl 1 (1986) 47-59
    • (1986) Am J Med Genet Suppl , vol.1 , pp. 47-59
    • Hagberg, B.1    Witt-Engerström, I.2
  • 18
    • 0038127131 scopus 로고    scopus 로고
    • Rett syndrome: the complex nature of a monogenic disease
    • Renieri A., Meloni I., Longo I., et al. Rett syndrome: the complex nature of a monogenic disease. J Mol Med 81 (2003) 346-354
    • (2003) J Mol Med , vol.81 , pp. 346-354
    • Renieri, A.1    Meloni, I.2    Longo, I.3
  • 19
    • 10744223120 scopus 로고    scopus 로고
    • Clinical variability in Rett syndrome
    • Naidu S., Bibat G., Kratz L., et al. Clinical variability in Rett syndrome. J Child Neurol 18 (2003) 662-668
    • (2003) J Child Neurol , vol.18 , pp. 662-668
    • Naidu, S.1    Bibat, G.2    Kratz, L.3
  • 21
    • 0042905824 scopus 로고    scopus 로고
    • Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome
    • Schollen E., Smeets E., Deflem E., Fryns J.P., and Matthijs G. Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome. Hum Mutat 22 (2003) 116-120
    • (2003) Hum Mutat , vol.22 , pp. 116-120
    • Schollen, E.1    Smeets, E.2    Deflem, E.3    Fryns, J.P.4    Matthijs, G.5
  • 22
    • 1542514789 scopus 로고    scopus 로고
    • Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome [Erratum in: Hum Mutat 2004;23:395]
    • Laccone F., Jünemann I., Whatley S., et al. Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome [Erratum in: Hum Mutat 2004;23:395]. Hum Mutat 23 (2004) 234-244
    • (2004) Hum Mutat , vol.23 , pp. 234-244
    • Laccone, F.1    Jünemann, I.2    Whatley, S.3
  • 23
    • 12144287057 scopus 로고    scopus 로고
    • A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome [Erratum in: Nat Genet 2004;36:540]
    • Mnatzakanian G.N., Lohi H., Munteanu I., et al. A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome [Erratum in: Nat Genet 2004;36:540]. Nat Genet 36 (2004) 339-341
    • (2004) Nat Genet , vol.36 , pp. 339-341
    • Mnatzakanian, G.N.1    Lohi, H.2    Munteanu, I.3
  • 24
    • 0035849529 scopus 로고    scopus 로고
    • MECP2 mutations in children with and without the phenotype of Rett syndrome
    • Hoffbuhr K., Devaney J.M., LaFleur B., et al. MECP2 mutations in children with and without the phenotype of Rett syndrome. Neurology 56 (2001) 1486-1495
    • (2001) Neurology , vol.56 , pp. 1486-1495
    • Hoffbuhr, K.1    Devaney, J.M.2    LaFleur, B.3
  • 25
    • 0034691236 scopus 로고    scopus 로고
    • Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MECP2 on selectivity for association with methylated DNA
    • Ballestar E., Yusufzai T.M., and Wolffe A.P. Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MECP2 on selectivity for association with methylated DNA. Biochemistry 39 (2000) 7100-7106
    • (2000) Biochemistry , vol.39 , pp. 7100-7106
    • Ballestar, E.1    Yusufzai, T.M.2    Wolffe, A.P.3
  • 26
    • 0026771999 scopus 로고
    • The neuropathology of Rett syndrome
    • Suppl:S89-98
    • Armstrong D.D. The neuropathology of Rett syndrome. Brain Dev 14 (1992) Suppl:S89-98
    • (1992) Brain Dev , vol.14
    • Armstrong, D.D.1
  • 27
    • 0030744335 scopus 로고    scopus 로고
    • Rett syndrome: a disorder affecting early brain growth
    • Naidu S. Rett syndrome: a disorder affecting early brain growth. Ann Neurol 42 (1997) 3-10
    • (1997) Ann Neurol , vol.42 , pp. 3-10
    • Naidu, S.1
  • 30
    • 0031761177 scopus 로고    scopus 로고
    • Decreased dendritic branching in frontal, motor and limbic cortex in Rett syndrome compared with trisomy 21
    • Armstrong D.D., Dunn K., and Antalffy B. Decreased dendritic branching in frontal, motor and limbic cortex in Rett syndrome compared with trisomy 21. J Neuropathol Exp Neurol 57 (1998) 1013-1017
    • (1998) J Neuropathol Exp Neurol , vol.57 , pp. 1013-1017
    • Armstrong, D.D.1    Dunn, K.2    Antalffy, B.3
  • 31
    • 76749102450 scopus 로고    scopus 로고
    • White matter impairment in Rett syndrome: diffusion tensor imaging study with clinical correlations
    • Mahmood A., Bibat G., Zhan A.L., et al. White matter impairment in Rett syndrome: diffusion tensor imaging study with clinical correlations. AJNR Am J Neuroradiol 31 (2010) 295-299
    • (2010) AJNR Am J Neuroradiol , vol.31 , pp. 295-299
    • Mahmood, A.1    Bibat, G.2    Zhan, A.L.3
  • 32
    • 0037396585 scopus 로고    scopus 로고
    • Expression of MECP2 in olfactory receptor neurons is developmentally regulated and occurs before synaptogenesis
    • Cohen D.R., Matarazzo V., Palmer A.M., et al. Expression of MECP2 in olfactory receptor neurons is developmentally regulated and occurs before synaptogenesis. Mol Cell Neurosci 22 (2003) 417-429
    • (2003) Mol Cell Neurosci , vol.22 , pp. 417-429
    • Cohen, D.R.1    Matarazzo, V.2    Palmer, A.M.3
  • 34
    • 0035170550 scopus 로고    scopus 로고
    • Expression pattern of the Rett syndrome gene MeCP2 in primate prefrontal cortex
    • Akbarian S., Chen R.Z., Gribnau J., et al. Expression pattern of the Rett syndrome gene MeCP2 in primate prefrontal cortex. Neurobiol Dis 8 (2001) 784-791
    • (2001) Neurobiol Dis , vol.8 , pp. 784-791
    • Akbarian, S.1    Chen, R.Z.2    Gribnau, J.3
  • 35
    • 27144523524 scopus 로고    scopus 로고
    • Rett syndrome and neuronal development
    • Johnston M.V., Blue M.E., and Naidu S. Rett syndrome and neuronal development. J Child Neurol 20 (2005) 759-763
    • (2005) J Child Neurol , vol.20 , pp. 759-763
    • Johnston, M.V.1    Blue, M.E.2    Naidu, S.3
  • 36
    • 48749120478 scopus 로고    scopus 로고
    • A retinal circuit that computes object motion
    • Baccus S.A., Olveczky B.P., Manu M., and Meister M. A retinal circuit that computes object motion. J Neurosci 28 (2008) 6807-6817
    • (2008) J Neurosci , vol.28 , pp. 6807-6817
    • Baccus, S.A.1    Olveczky, B.P.2    Manu, M.3    Meister, M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.