메뉴 건너뛰기




Volumn 2, Issue 4, 2004, Pages 179-190

Neurological, genetic and epigenetic features of rett syndrome

Author keywords

Genotype phenotype correlations; MECP2 mutations; Rett syndrome; X chromosome inactivation

Indexed keywords


EID: 85013575836     PISSN: 13042580     EISSN: 13050613     Source Type: Journal    
DOI: 10.1055/s-0035-1557218     Document Type: Article
Times cited : (22)

References (97)
  • 1
    • 0014011176 scopus 로고
    • On an unusual brain atrophy syndrome in hyperammonemia in childhood
    • (in German)
    • Rett A. On an unusual brain atrophy syndrome in hyperammonemia in childhood. Wien Med Wochenschr 1966; 116: 723-726 (in German).
    • (1966) Wien Med Wochenschr , vol.116 , pp. 723-726
    • Rett, A.1
  • 3
    • 0020507697 scopus 로고
    • A progressive syndrome of autism, dementia, ataxia and loss of purposeful hand use in girls Rett’s syndrome: Report of 35 cases
    • Hagberg B, Aicardi J, Dias K, Ramos O. A progressive syndrome of autism, dementia, ataxia and loss of purposeful hand use in girls Rett’s syndrome: report of 35 cases. Ann Neurol 1983; 14: 471-479.
    • (1983) Ann Neurol , vol.14 , pp. 471-479
    • Hagberg, B.1    Aicardi, J.2    Dias, K.3    Ramos, O.4
  • 4
    • 0032830639 scopus 로고    scopus 로고
    • Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein2
    • Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein2. Nat Genet 1999; 23: 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
  • 5
    • 0031563047 scopus 로고    scopus 로고
    • Autism
    • Rapin I. Autism. N Engl J Med 1997; 337: 97-104.
    • (1997) N Engl J Med , vol.337 , pp. 97-104
    • Rapin, I.1
  • 6
    • 0031454558 scopus 로고    scopus 로고
    • Rett syndrome: Epidemiology and geographical viability
    • Hagberg B, Hagberg G. Rett syndrome: epidemiology and geographical viability. Eur Child Adolesc Psychiatry 1997; 6 Suppl 1: 5-7.
    • (1997) Eur Child Adolesc Psychiatry , vol.6 , pp. 5-7
    • Hagberg, B.1    Hagberg, G.2
  • 7
    • 0027397622 scopus 로고
    • Epidemiology of Rett syndrome: A population based registry
    • Kozinetz CA, Skender ML, MacNaughton N, et al. Epidemiology of Rett syndrome: a population based registry. Pediatrics 1993; 91: 445-450.
    • (1993) Pediatrics , vol.91 , pp. 445-450
    • Kozinetz, C.A.1    Skender, M.L.2    MacNaughton, N.3
  • 9
    • 0031470764 scopus 로고    scopus 로고
    • The prevalence and incidence of Rett syndrome in Australia
    • Leonard H, Bower C, English D. The prevalence and incidence of Rett syndrome in Australia. Eur Child Adolesc Psychiatry 1997; 6 Suppl 1: 8-10.
    • (1997) Eur Child Adolesc Psychiatry , vol.6 , pp. 8-10
    • Leonard, H.1    Bower, C.2    English, D.3
  • 10
    • 0022538159 scopus 로고
    • A study of natural history of Rett syndrome in 23 girls
    • Kerr AM, Stephenson JB. A study of natural history of Rett syndrome in 23 girls. Am J Med Genet Suppl 1986; 24: 77-83.
    • (1986) Am J Med Genet Suppl , vol.24 , pp. 77-83
    • Kerr, A.M.1    Stephenson, J.B.2
  • 12
    • 0035192410 scopus 로고    scopus 로고
    • Three decades of sociomedical experiences from West Swedish Rett females 4-60 years of age
    • Hagberg B, Berg M, Steffenburg U. Three decades of sociomedical experiences from West Swedish Rett females 4-60 years of age. Brain Dev 2001; 23 Suppl 1: S28-S31.
    • (2001) Brain Dev , vol.23 , pp. S28-S31
    • Hagberg, B.1    Berg, M.2    Steffenburg, U.3
  • 13
    • 0023614383 scopus 로고
    • Prevalence of Rett syndrome in Switzerland
    • Boltshauser E, Kunzle CH. Prevalence of Rett syndrome in Switzerland. Helvetica Paed Acta 1987; 42: 407-411.
    • (1987) Helvetica Paed Acta , vol.42 , pp. 407-411
    • Boltshauser, E.1    Kunzle, C.H.2
  • 15
    • 0022460194 scopus 로고
    • Rett syndrome: A suggested staging system for describing impairment profile with increasing age towards adolescence
    • Hagberg B, Witt-Engerstrom I. Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence. Am J Med Genet Suppl 1986; 1: 47-59.
    • (1986) Am J Med Genet Suppl , vol.1 , pp. 47-59
    • Hagberg, B.1    Witt-Engerstrom, I.2
  • 16
    • 0035015196 scopus 로고    scopus 로고
    • Guidelines for reporting clinical features in cases with MECP2 mutations
    • Кyэrr AM, Nomura Y, Armstrong D, et al. Guidelines for reporting clinical features in cases with MECP2 mutations. Brain Dev 2001; 23: 208-211.
    • (2001) Brain Dev , vol.23 , pp. 208-211
    • Кyэrr, A.M.1    Nomura, Y.2    Armstrong, D.3
  • 17
    • 0025612765 scopus 로고
    • Multi-institutional survey of the Rett syndrome in Japan
    • Oguro N, Momoi M, Nakamigawa T, et al. Multi-institutional survey of the Rett syndrome in Japan. Brain Dev 1990; 12: 753-759.
    • (1990) Brain Dev , vol.12 , pp. 753-759
    • Oguro, N.1    Momoi, M.2    Nakamigawa, T.3
  • 18
    • 0035409467 scopus 로고    scopus 로고
    • Characterization of breathing and associated central autonomic dysfunction in the Rett disorder
    • Julu PO, Kerr AM, Apartopoulos F, et al. Characterization of breathing and associated central autonomic dysfunction in the Rett disorder. Arch Dis Child 2001; 85: 29-37.
    • (2001) Arch Dis Child , vol.85 , pp. 29-37
    • Julu, P.O.1    Kerr, A.M.2    Apartopoulos, F.3
  • 21
    • 0023888966 scopus 로고
    • The Rett Syndrome Diagnostic Criteria Work Group
    • Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group. Ann Neurol 1988; 23: 425-428.
    • (1988) Ann Neurol , vol.23 , pp. 425-428
  • 23
    • 0028111560 scopus 로고
    • Rett variants: A suggested model for inclusion criteria
    • Hagberg B, Skjeldal OH. Rett variants: a suggested model for inclusion criteria. Pediatr Neurol 1994; 11: 5-11.
    • (1994) Pediatr Neurol , vol.11 , pp. 5-11
    • Hagberg, B.1    Skjeldal, O.H.2
  • 24
    • 0026680995 scopus 로고
    • The Rett girls with preserved speech
    • Zappella M. The Rett girls with preserved speech. Brain Dev 1992; 14: 98-101.
    • (1992) Brain Dev , vol.14 , pp. 98-101
    • Zappella, M.1
  • 26
    • 0037235315 scopus 로고    scopus 로고
    • Describing the phenotype in Rett syndrome using a population database
    • Colvin L, Fyfe S, Leonard S, et al. Describing the phenotype in Rett syndrome using a population database. Arch Dis Child 2003; 88: 38-43.
    • (2003) Arch Dis Child , vol.88 , pp. 38-43
    • Colvin, L.1    Fyfe, S.2    Leonard, S.3
  • 27
    • 0035072804 scopus 로고    scopus 로고
    • Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations
    • Shahbazian M, Zoghbi HY. Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations. Curr Opin Neurol 2001; 14: 171-176.
    • (2001) Curr Opin Neurol , vol.14 , pp. 171-176
    • Shahbazian, M.1    Zoghbi, H.Y.2
  • 28
    • 0022458626 scopus 로고
    • Chromosome findings in the Rett syndrome and a test of a two-step mutation theory
    • Wahlstrom J, Anvret M. Chromosome findings in the Rett syndrome and a test of a two-step mutation theory. Am J Med Genet Suppl 1986; 1: 361-368.
    • (1986) Am J Med Genet Suppl , vol.1 , pp. 361-368
    • Wahlstrom, J.1    Anvret, M.2
  • 29
    • 0025021520 scopus 로고
    • Rett phenotype with X/autosome translocation: Possible mapping to the short arm of chromosome X
    • Journel H, Melki J, Turleau C, Munnich A, de Grouchy J. Rett phenotype with X/autosome translocation: possible mapping to the short arm of chromosome X. Am J Med Genet 1990; 35: 142-147.
    • (1990) Am J Med Genet , vol.35 , pp. 142-147
    • Journel, H.1    Melki, J.2    Turleau, C.3    Munnich, A.4    de Grouchy, J.5
  • 31
    • 0027414162 scopus 로고
    • 18q-mosaicism associated with Rett syndrome phenotype
    • Gordon K, Siu VM, Sergovich F, Jung J. 18q-mosaicism associated with Rett syndrome phenotype. Am J Med Genet 1993; 46: 142-144.
    • (1993) Am J Med Genet , vol.46 , pp. 142-144
    • Gordon, K.1    Siu, V.M.2    Sergovich, F.3    Jung, J.4
  • 32
    • 0009715992 scopus 로고    scopus 로고
    • Congenital Rett syndrome phenotype - interstitial deletion chromosome 13 and retinoblastoma
    • Herder AG, Skjeldal O, Hagberg B. Congenital Rett syndrome phenotype - interstitial deletion chromosome 13 and retinoblastoma. Eur Child Adolesc Psychiatry 1997; 6 Suppl 1: 92.
    • (1997) Eur Child Adolesc Psychiatry , vol.6 , pp. 92
    • Herder, A.G.1    Skjeldal, O.2    Hagberg, B.3
  • 34
    • 0030979456 scopus 로고    scopus 로고
    • Additional clinical and cytogenetic findings associated with Rett syndrome
    • Simonic I, Gericke GS, Lippert M, Schoeman JF. Additional clinical and cytogenetic findings associated with Rett syndrome. Am J Med Genet 1997; 31: 331-337.
    • (1997) Am J Med Genet , vol.31 , pp. 331-337
    • Simonic, I.1    Gericke, G.S.2    Lippert, M.3    Schoeman, J.F.4
  • 35
    • 0031785614 scopus 로고    scopus 로고
    • Identification and molecular characterization of a small 11q23.3 de novo duplication in a patient with Rett syndrome manifestations
    • Delobel B, Delannoy V, Pini G, et al. Identification and molecular characterization of a small 11q23.3 de novo duplication in a patient with Rett syndrome manifestations. Am J Med Genet 1998; 80: 273-280.
    • (1998) Am J Med Genet , vol.80 , pp. 273-280
    • Delobel, B.1    Delannoy, V.2    Pini, G.3
  • 36
    • 0033590673 scopus 로고    scopus 로고
    • Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3)
    • Gustavsson P, Kimber E, Wahlstrom J, Anneren G. Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3). Am J Med Genet 1999; 82: 348-351.
    • (1999) Am J Med Genet , vol.82 , pp. 348-351
    • Gustavsson, P.1    Kimber, E.2    Wahlstrom, J.3    Anneren, G.4
  • 37
    • 0032927468 scopus 로고    scopus 로고
    • Congenital variant Rett syndrome in a girl with terminal deletion of chromosome 3p
    • Wahlstrom J, Uller A, Johannesson T, et al. Congenital variant Rett syndrome in a girl with terminal deletion of chromosome 3p. J Med Genet 1999; 36: 343-345.
    • (1999) J Med Genet , vol.36 , pp. 343-345
    • Wahlstrom, J.1    Uller, A.2    Johannesson, T.3
  • 38
    • 0035076360 scopus 로고    scopus 로고
    • MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern
    • Nielsen JB, Henriksen KF, Hansen C, Silahtaroğlu A, Schwartz M, Tommerup N. MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern. Eur J Hum Genet 2001; 9: 178-184.
    • (2001) Eur J Hum Genet , vol.9 , pp. 178-184
    • Nielsen, J.B.1    Henriksen, K.F.2    Hansen, C.3    Silahtaroğlu, A.4    Schwartz, M.5    Tommerup, N.6
  • 39
    • 0035083674 scopus 로고    scopus 로고
    • A Rett syndrome patient with a ring X chromosome: Further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease
    • Rosenberg C, Wouters H, Szuhai K, et al. A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease. Eur J Hum Genet 2001; 9: 171-177.
    • (2001) Eur J Hum Genet , vol.9 , pp. 171-177
    • Rosenberg, C.1    Wouters, H.2    Szuhai, K.3
  • 41
    • 10744231297 scopus 로고    scopus 로고
    • Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features
    • Pescucci S, Meloni I, Bruttini M, et al. Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features. Clin Genet 2003; 64: 497-501.
    • (2003) Clin Genet , vol.64 , pp. 497-501
    • Pescucci, S.1    Meloni, I.2    Bruttini, M.3
  • 42
    • 0030847922 scopus 로고    scopus 로고
    • Earlier finishing of Xp21.2 subband replication of the inactive X chromosome in Rett syndrome girl but not in her 47, XXX mother
    • Panasiuk B, Midro AT, Zadrozna-Tolwinska B. Earlier finishing of Xp21.2 subband replication of the inactive X chromosome in Rett syndrome girl but not in her 47, XXX mother. Clin Genet 1997; 52: 120-125.
    • (1997) Clin Genet , vol.52 , pp. 120-125
    • Panasiuk, B.1    Midro, A.T.2    Zadrozna-Tolwinska, B.3
  • 43
    • 0035204270 scopus 로고    scopus 로고
    • Cytogenetic and molecular-cytogenetic studies of Rett syndrome (RTT): A retrospective analysis of a Russian cohort of RTT patients (the investigation of 57 girls and three boys)
    • Vorsanova SG, Yurov YB, Ulas VY, et al. Cytogenetic and molecular-cytogenetic studies of Rett syndrome (RTT): a retrospective analysis of a Russian cohort of RTT patients (the investigation of 57 girls and three boys). Brain Dev 2001; 23 Suppl 1: S196-S201.
    • (2001) Brain Dev , vol.23 , pp. S196-S201
    • Vorsanova, S.G.1    Yurov, Y.B.2    Ulas, V.Y.3
  • 44
    • 0031617865 scopus 로고    scopus 로고
    • Cytogenetic and molecular genetic diagnostics of Rett syndrome in children
    • (in Russian)
    • Vorsanova SG, Demidova IA, Ulas VY, et al. Cytogenetic and molecular genetic diagnostics of Rett syndrome in children. Zh Nevrol Psikhiatr Im S S Korsakova 1998; 98: 53-56 (in Russian).
    • (1998) Zh Nevrol Psikhiatr Im S S Korsakova , vol.98 , pp. 53-56
    • Vorsanova, S.G.1    Demidova, I.A.2    Ulas, V.Y.3
  • 45
    • 0033763712 scopus 로고    scopus 로고
    • Rett syndrome: A surprising result of mutation in MECP2
    • Dragich J, Houwink-Manville I, Schanen C. Rett syndrome: a surprising result of mutation in MECP2. Hum Mol Genet 2000; 9: 2365-2375.
    • (2000) Hum Mol Genet , vol.9 , pp. 2365-2375
    • Dragich, J.1    Houwink-Manville, I.2    Schanen, C.3
  • 46
    • 0021965907 scopus 로고
    • A "new" chromosome marker common to the Rett syndrome and infantile autism? The frequency of fragile sites at X p22 in 81 children with infantile autism, childhood psychosis and the Rett syndrome
    • Gillberg C, Wahlstrom J, Hagberg B. A "new" chromosome marker common to the Rett syndrome and infantile autism? The frequency of fragile sites at X p22 in 81 children with infantile autism, childhood psychosis and the Rett syndrome. Brain Dev 1985; 7: 365-367.
    • (1985) Brain Dev , vol.7 , pp. 365-367
    • Gillberg, C.1    Wahlstrom, J.2    Hagberg, B.3
  • 48
    • 0035200633 scopus 로고    scopus 로고
    • Multicolor fluorescent in situ hybridization on post mortem brain in schizophrenia as an approach for identification of low-level chromosomal aneuploidy in neuropsychiatric diseases
    • Yurov YB, Vostrikov VM, Vorsanova SG, Monakhov VV, Iourov IY. Multicolor fluorescent in situ hybridization on post mortem brain in schizophrenia as an approach for identification of low-level chromosomal aneuploidy in neuropsychiatric diseases. Brain Dev 2001; 23 Suppl 1: S186-S190.
    • (2001) Brain Dev , vol.23 , pp. S186-S190
    • Yurov, Y.B.1    Vostrikov, V.M.2    Vorsanova, S.G.3    Monakhov, V.V.4    Iourov, I.Y.5
  • 49
    • 0030009791 scopus 로고    scopus 로고
    • High male: Female ratio of germ-line mutations: An alternative explanation for postulated gestational lethality in males in X-linked dominant disorders
    • Thomas GH. High male: female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders. Am J Hum Genet 1996; 58: 1364-1368.
    • (1996) Am J Hum Genet , vol.58 , pp. 1364-1368
    • Thomas, G.H.1
  • 50
    • 0028902950 scopus 로고
    • Studies of X inactivation and isodisomy in twins provide further evidence that X chromosome is not involved in Rett syndrome
    • Migeon BR, Dunn MA, Thomas G, Schmeckpeper BJ, Naidu S. Studies of X inactivation and isodisomy in twins provide further evidence that X chromosome is not involved in Rett syndrome. Am J Hum Genet 1995; 56: 647-653.
    • (1995) Am J Hum Genet , vol.56 , pp. 647-653
    • Migeon, B.R.1    Dunn, M.A.2    Thomas, G.3    Schmeckpeper, B.J.4    Naidu, S.5
  • 51
    • 0029743746 scopus 로고    scopus 로고
    • Rett syndrome, classical and atypical: Genealogical support for common origin
    • Akesson HO, Hagberg B, Wahlstrom J. Rett syndrome, classical and atypical: genealogical support for common origin. J Med Genet 1996; 33: 764-766.
    • (1996) J Med Genet , vol.33 , pp. 764-766
    • Akesson, H.O.1    Hagberg, B.2    Wahlstrom, J.3
  • 52
    • 0036590316 scopus 로고    scopus 로고
    • MECP2 mutations in Swedish Rett syndrome clusters
    • Xiang F, Stenbom Y, Anvret M. MECP2 mutations in Swedish Rett syndrome clusters. Clin Genet 2002; 61: 384-385.
    • (2002) Clin Genet , vol.61 , pp. 384-385
    • Xiang, F.1    Stenbom, Y.2    Anvret, M.3
  • 53
    • 0032231652 scopus 로고    scopus 로고
    • Rett syndrome: Confirmation of X-linked dominant inheritance and localization of the gene to Xq28
    • Sirianni N, Naidu S, Pereira J, Pilotto RF, Hoffman EP. Rett syndrome: confirmation of X-linked dominant inheritance and localization of the gene to Xq28. Am J Hum Genet 1998; 63: 1552-1558.
    • (1998) Am J Hum Genet , vol.63 , pp. 1552-1558
    • Sirianni, N.1    Naidu, S.2    Pereira, J.3    Pilotto, R.F.4    Hoffman, E.P.5
  • 54
    • 0030188404 scopus 로고    scopus 로고
    • Isolation, physical mapping and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2
    • D’Esposito M, Quaderi NA, Ciccodocola A, et al. Isolation, physical mapping and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2. Mamm Genome 1996; 7: 533-535.
    • (1996) Mamm Genome , vol.7 , pp. 533-535
    • D’Esposito, M.1    Quaderi, N.A.2    Ciccodocola, A.3
  • 55
    • 0342437491 scopus 로고    scopus 로고
    • MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin
    • Nan X, Campoy FJ, Bird A. MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin. Cell 1997; 88: 471-481.
    • (1997) Cell , vol.88 , pp. 471-481
    • Nan, X.1    Campoy, F.J.2    Bird, A.3
  • 56
    • 0141925713 scopus 로고    scopus 로고
    • DNA methylation and Rett syndrome
    • Kriaucionis S, Bird A. DNA methylation and Rett syndrome. Hum Mol Genet 2003; 12: 221-227.
    • (2003) Hum Mol Genet , vol.12 , pp. 221-227
    • Kriaucionis, S.1    Bird, A.2
  • 57
    • 0344668731 scopus 로고    scopus 로고
    • Analysis of mammalian proteins involved in chromatin modification reveals new metaphase centromeric proteins and distinct chromosomal distribution patterns
    • Craig JM, Earle E, Canham P, Wong LH, Anderson M, Choo KH. Analysis of mammalian proteins involved in chromatin modification reveals new metaphase centromeric proteins and distinct chromosomal distribution patterns. Hum Mol Genet 2003; 12: 3109-3121.
    • (2003) Hum Mol Genet , vol.12 , pp. 3109-3121
    • Craig, J.M.1    Earle, E.2    Canham, P.3    Wong, L.H.4    Anderson, M.5    Choo, K.H.6
  • 58
    • 0033152745 scopus 로고    scopus 로고
    • The methyl-CpG binding transcriptional repressor MeCP2 stably associates with nucleosomal DNA
    • Chandler SP, Guschin D, Landsberger N, Wolffe AP. The methyl-CpG binding transcriptional repressor MeCP2 stably associates with nucleosomal DNA. Biochemestry 1999; 38: 7008-7018.
    • (1999) Biochemestry , vol.38 , pp. 7008-7018
    • Chandler, S.P.1    Guschin, D.2    Landsberger, N.3    Wolffe, A.P.4
  • 59
    • 18744405062 scopus 로고    scopus 로고
    • Compressor-dependent silencing of chromosomal regions encoding neuronal genes
    • Lunyak VV, Burgess R, Prefontaine GG, et al. Compressor-dependent silencing of chromosomal regions encoding neuronal genes. Science 2002; 298: 1747-1752.
    • (2002) Science , vol.298 , pp. 1747-1752
    • Lunyak, V.V.1    Burgess, R.2    Prefontaine, G.G.3
  • 60
    • 0031837109 scopus 로고    scopus 로고
    • Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription
    • Jones PL, Veenstra GJ, Wade PA, et al. Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription. Nat Genet 1998; 19: 187-191.
    • (1998) Nat Genet , vol.19 , pp. 187-191
    • Jones, P.L.1    Veenstra, G.J.2    Wade, P.A.3
  • 61
    • 0030071685 scopus 로고    scopus 로고
    • The methyl-CpG binding protein MeCP2 is essential for embryonic development in the mouse
    • Tate P, Skarnes W, Bird A. The methyl-CpG binding protein MeCP2 is essential for embryonic development in the mouse. Nat Genet 1996; 12: 205-208.
    • (1996) Nat Genet , vol.12 , pp. 205-208
    • Tate, P.1    Skarnes, W.2    Bird, A.3
  • 62
    • 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 YM, LaSalle JM. Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative polyadenylation. J Mol Med 2003; 81: 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
  • 63
    • 0037396585 scopus 로고    scopus 로고
    • Expression of MeCP2 in olfactory receptor neurons is developmentally regulated and occurs before synaptogenesis
    • Cohen DRS, Matrazzo V, Palmer AM, et al. Expression of MeCP2 in olfactory receptor neurons is developmentally regulated and occurs before synaptogenesis. Mol Cell Neuroscience 2003; 22: 417-429.
    • (2003) Mol Cell Neuroscience , vol.22 , pp. 417-429
    • Cohen, D.R.S.1    Matrazzo, V.2    Palmer, A.M.3
  • 64
    • 0034502958 scopus 로고    scopus 로고
    • Characterisation of transcriptionally active and inactive chromatin domains in neurons
    • Akhmanova A, Verkerk T, Langeveld A, Grosveld F, Galjart N. Characterisation of transcriptionally active and inactive chromatin domains in neurons. J Cell Sci 2000; 113 Pt 24: 4463-4474.
    • (2000) J Cell Sci , vol.113 , pp. 4463-4474
    • Akhmanova, A.1    Verkerk, T.2    Langeveld, A.3    Grosveld, F.4    Galjart, N.5
  • 65
    • 0041402741 scopus 로고    scopus 로고
    • Mutations and polymorphisms in the human methyl CpG-binding protein MeCP2
    • Miltenberger-Miltenyi G, Laccone F. Mutations and polymorphisms in the human methyl CpG-binding protein MeCP2. Hum Mutat 2003; 22: 107-115.
    • (2003) Hum Mutat , vol.22 , pp. 107-115
    • Miltenberger-Miltenyi, G.1    Laccone, F.2
  • 66
    • 0036917867 scopus 로고    scopus 로고
    • Rett syndrome and MECP2: Linking epigenetics and neuronal function
    • Shahbazian MD, Zoghbi HY. Rett syndrome and MECP2: linking epigenetics and neuronal function. Am J Hum Genet 2002; 71: 1259-1272.
    • (2002) Am J Hum Genet , vol.71 , pp. 1259-1272
    • Shahbazian, M.D.1    Zoghbi, H.Y.2
  • 67
    • 0035853013 scopus 로고    scopus 로고
    • MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features
    • Auranen M, Vanhala R, Vosman M, et al. MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features. Neurology 2001; 56: 611-617.
    • (2001) Neurology , vol.56 , pp. 611-617
    • Auranen, M.1    Vanhala, R.2    Vosman, M.3
  • 68
    • 0036016983 scopus 로고    scopus 로고
    • Spectrum of MECP2 mutations in Rett syndrome
    • Bienvenu T, Villard L, De Roux N, et al. Spectrum of MECP2 mutations in Rett syndrome. Genet Test 2002; 6: 1-6.
    • (2002) Genet Test , vol.6 , pp. 1-6
    • Bienvenu, T.1    Villard, L.2    De Roux, N.3
  • 69
    • 0035129277 scopus 로고    scopus 로고
    • A detailed analysis of the MECP2 gene: Prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients
    • Bourdon V, Philippe C, Labrune O, Amsallem D, Arnould C, Jonveaux P. A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients. Hum Genet 2001; 108: 43-50.
    • (2001) Hum Genet , vol.108 , pp. 43-50
    • Bourdon, V.1    Philippe, C.2    Labrune, O.3    Amsallem, D.4    Arnould, C.5    Jonveaux, P.6
  • 70
    • 18144443930 scopus 로고    scopus 로고
    • Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: Correlation of disease severity with mutation type and location
    • Cheadle JP, Gill H, Fleming N, et al. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Hum Mol Genet 2000; 9: 1119-1129.
    • (2000) Hum Mol Genet , vol.9 , pp. 1119-1129
    • Cheadle, J.P.1    Gill, H.2    Fleming, N.3
  • 71
    • 0035849529 scopus 로고    scopus 로고
    • MECP2 mutations in children with and without the phenotype of Rett syndrome
    • Hoffbuhr K, Devaney JM, LaFleur B, et al. MECP2 mutations in children with and without the phenotype of Rett syndrome. Neurology 2001; 56: 1486-1495.
    • (2001) Neurology , vol.56 , pp. 1486-1495
    • Hoffbuhr, K.1    Devaney, J.M.2    LaFleur, B.3
  • 72
    • 0036043887 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in Rett syndrome: The study of Russian cohort of patients
    • (in Russian)
    • Vorsanova SG, Ulas VIu, Iurov IuB, et al. Genotype-phenotype correlations in Rett syndrome: the study of Russian cohort of patients. Zh Nevrol Psikhiatr Im SS Korsakova 2002; 102: 23-29 (in Russian).
    • (2002) Zh Nevrol Psikhiatr Im SS Korsakova , vol.102 , pp. 23-29
    • Vorsanova, S.G.1    Viu, U.2    Iurov Iu, B.3
  • 73
    • 0033365401 scopus 로고    scopus 로고
    • Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots
    • Wan M, Lee SSJ, Zhang X. et al. Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am J Hum Genet 1999; 65: 1520-1529.
    • (1999) Am J Hum Genet , vol.65 , pp. 1520-1529
    • Wan, M.1    Lee, S.S.J.2    Zhang, X.3
  • 74
    • 0037824702 scopus 로고    scopus 로고
    • Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype
    • Weaving LS, Williamson SL, Bennetts B, et al. Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype. Am J Med Genet 2003; 118A: 103-114.
    • (2003) Am J Med Genet , vol.118A , pp. 103-114
    • Weaving, L.S.1    Williamson, S.L.2    Bennetts, B.3
  • 75
    • 0034060636 scopus 로고    scopus 로고
    • Mutation screening in Rett syndrome patients
    • Xiang F, Buervenich S, Nicolao P, et al. Mutation screening in Rett syndrome patients. J Med Genet 2000; 37: 250-255.
    • (2000) J Med Genet , vol.37 , pp. 250-255
    • Xiang, F.1    Buervenich, S.2    Nicolao, P.3
  • 76
    • 0035080490 scopus 로고    scopus 로고
    • Parental origin of de novo MECP2 mutations in Rett syndrome
    • Girard M, Couvert P, Carrie A, et al. Parental origin of de novo MECP2 mutations in Rett syndrome. Eur J Hum Genet 2001; 9: 231-236.
    • (2001) Eur J Hum Genet , vol.9 , pp. 231-236
    • Girard, M.1    Couvert, P.2    Carrie, A.3
  • 77
    • 0035013739 scopus 로고    scopus 로고
    • MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin
    • Trappe R, Laccone F, Cobilanschi J, et al. MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin. Am J Hum Genet 2001; 68: 1093-1101.
    • (2001) Am J Hum Genet , vol.68 , pp. 1093-1101
    • Trappe, R.1    Laccone, F.2    Cobilanschi, J.3
  • 78
    • 0034327571 scopus 로고    scopus 로고
    • Functional consequences of Rett syndrome mutations on human MECP2
    • Yusufzai TM, Wolffe AP. Functional consequences of Rett syndrome mutations on human MECP2. Nucleic Acids Res 2000; 28: 4172-4179.
    • (2000) Nucleic Acids Res , vol.28 , pp. 4172-4179
    • Yusufzai, T.M.1    Wolffe, A.P.2
  • 79
    • 0037215780 scopus 로고    scopus 로고
    • Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2)
    • Moog U, Smeets EE, van Roozendaal KE, et al. Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). Eur J Paediatr Neurol 2003; 7: 5-12.
    • (2003) Eur J Paediatr Neurol , vol.7 , pp. 5-12
    • Moog, U.1    Smeets, E.E.2    van Roozendaal, K.E.3
  • 80
    • 0035054930 scopus 로고    scopus 로고
    • Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein
    • Watson P, Black G, Ramsden S, et al. Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. J Med Genet 2001 38: 224-228.
    • (2001) J Med Genet , vol.38 , pp. 224-228
    • Watson, P.1    Black, G.2    Ramsden, S.3
  • 81
    • 85047697344 scopus 로고    scopus 로고
    • Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy
    • Topçu M, Akyerli C, Sayi A, et al. Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy. Eur J Hum Genet 2002; 10: 77-81.
    • (2002) Eur J Hum Genet , vol.10 , pp. 77-81
    • Topçu, M.1    Akyerli, C.2    Sayi, A.3
  • 82
    • 0037542471 scopus 로고    scopus 로고
    • Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missence mutation in MECP2
    • Lynch SA, Whatley SD, Ramesh V, Sinha S, Ravine D. Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missence mutation in MECP2. Arch Dis Child 2003; 88: F250-F252.
    • (2003) Arch Dis Child , vol.88 , pp. F250-F252
    • Lynch, S.A.1    Whatley, S.D.2    Ramesh, V.3    Sinha, S.4    Ravine, D.5
  • 83
  • 84
    • 0036371289 scopus 로고    scopus 로고
    • MECP2 mutation in a boy with language disorder and schizophrenia
    • Cohen D, Lazar G, Couvert P, et al. MECP2 mutation in a boy with language disorder and schizophrenia. Am J Psychiatry 2002; 159: 148-149.
    • (2002) Am J Psychiatry , vol.159 , pp. 148-149
    • Cohen, D.1    Lazar, G.2    Couvert, P.3
  • 85
    • 0035870846 scopus 로고    scopus 로고
    • MECP2 is highly mutated in X-linked mental retardation
    • Couvert P, Bienvenu T, Aquaviva C, et al. MECP2 is highly mutated in X-linked mental retardation. Hum Mol Genet 2001; 10: 941-946.
    • (2001) Hum Mol Genet , vol.10 , pp. 941-946
    • Couvert, P.1    Bienvenu, T.2    Aquaviva, C.3
  • 86
    • 0036389872 scopus 로고    scopus 로고
    • Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: Is there a need for routine screening?
    • Winnepenninckx B, Errijgers V, Hayez-Delatte F, Reyniers E, Kooy RF. Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening? Hum Mutat 2002; 20: 249-252.
    • (2002) Hum Mutat , vol.20 , pp. 249-252
    • Winnepenninckx, B.1    Errijgers, V.2    Hayez-Delatte, F.3    Reyniers, E.4    Kooy, R.F.5
  • 87
    • 0036207456 scopus 로고    scopus 로고
    • A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome
    • Klauck SM, Lindsay S, Beyer KS, Splitt M, Burn J, Poustka A. A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome. Am J Hum Genet 2002; 70: 1034-1037.
    • (2002) Am J Hum Genet , vol.70 , pp. 1034-1037
    • Klauck, S.M.1    Lindsay, S.2    Beyer, K.S.3    Splitt, M.4    Burn, J.5    Poustka, A.6
  • 88
    • 0033804436 scopus 로고    scopus 로고
    • A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males
    • Meloni I, Bruttini M, Longo I, et al. A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. Am J Hum Genet 2000; 67: 982-985.
    • (2000) Am J Hum Genet , vol.67 , pp. 982-985
    • Meloni, I.1    Bruttini, M.2    Longo, I.3
  • 89
    • 0025305473 scopus 로고
    • Patterns of X chromosome inactivation in the Rett syndrome
    • Zoghbi HY, Percy AK, Schultz RJ, Fill C. Patterns of X chromosome inactivation in the Rett syndrome. Brain Dev 1990; 12: 131-135.
    • (1990) Brain Dev , vol.12 , pp. 131-135
    • Zoghbi, H.Y.1    Percy, A.K.2    Schultz, R.J.3    Fill, C.4
  • 90
    • 0030021153 scopus 로고    scopus 로고
    • X chromosome inactivation in 30 girls with Rett syndrome: Analysis using the probe
    • Camus P, Abbadi N, Perrier MC, Chery M, Gilgenkrantz S. X chromosome inactivation in 30 girls with Rett syndrome: analysis using the probe. Hum Genet 1996; 97: 247-250.
    • (1996) Hum Genet , vol.97 , pp. 247-250
    • Camus, P.1    Abbadi, N.2    Perrier, M.C.3    Chery, M.4    Gilgenkrantz, S.5
  • 91
    • 0037158475 scopus 로고    scopus 로고
    • Balanced X chromosome inactivation patterns in the Rett syndrome brain
    • Shahbazian M, Sun Y, Zoghbi HY. Balanced X chromosome inactivation patterns in the Rett syndrome brain. Am J Med Genet 2002; 111: 164-168.
    • (2002) Am J Med Genet , vol.111 , pp. 164-168
    • Shahbazian, M.1    Sun, Y.2    Zoghbi, H.Y.3
  • 92
    • 0034931813 scopus 로고    scopus 로고
    • Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: Implication for the disease
    • Villard L, Levy N, Xiang F, et al. Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implication for the disease. J Med Genet 2001; 38: 435-442.
    • (2001) J Med Genet , vol.38 , pp. 435-442
    • Villard, L.1    Levy, N.2    Xiang, F.3
  • 93
    • 0035202921 scopus 로고    scopus 로고
    • FISH analysis of replication and transcription of chromosome X loci: New approach for genetic analysis of Rett syndrome
    • Vorsanova SG, Yurov YB, Kolotii AD, Soloviev IV. FISH analysis of replication and transcription of chromosome X loci: new approach for genetic analysis of Rett syndrome. Brain Dev 2001; 23 Suppl 1: S191-S195.
    • (2001) Brain Dev , vol.23 , pp. S191-S195
    • Vorsanova, S.G.1    Yurov, Y.B.2    Kolotii, A.D.3    Soloviev, I.V.4
  • 94
    • 0035194286 scopus 로고    scopus 로고
    • Molecular-cytogenetic investigation of skewed chromosome X inactivation in Rett Syndrome
    • Yurov YB, Vorsanova SG, Kolotii AD, Iourov IY. Molecular-cytogenetic investigation of skewed chromosome X inactivation in Rett Syndrome. Brain Dev 2001; 23 Suppl 1: S214-S217.
    • (2001) Brain Dev , vol.23 , pp. S214-S217
    • Yurov, Y.B.1    Vorsanova, S.G.2    Kolotii, A.D.3    Iourov, I.Y.4
  • 95
    • 0242332183 scopus 로고    scopus 로고
    • Depression of BDNF transcription involves calcium-dependent phosphorylation of MECP2
    • Chen WG, Chang Q, Lin Y, et al. Depression of BDNF transcription involves calcium-dependent phosphorylation of MECP2. Science 2003; 302: 885-889.
    • (2003) Science , vol.302 , pp. 885-889
    • Chen, W.G.1    Chang, Q.2    Lin, Y.3
  • 96
    • 12144287057 scopus 로고    scopus 로고
    • A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome
    • Mnatzakanian GN, Lohi H, Munteanu I, et al. A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. Nat Genet 2004; 36: 339-341.
    • (2004) Nat Genet , vol.36 , pp. 339-341
    • Mnatzakanian, G.N.1    Lohi, H.2    Munteanu, I.3
  • 97
    • 1842429102 scopus 로고    scopus 로고
    • Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome
    • Schanen C, Houwink EJF, Dorrani N, et al. Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. Am J Med Genet 2004; 126A: 129-140.
    • (2004) Am J Med Genet , vol.126A , pp. 129-140
    • Schanen, C.1    Houwink, E.J.F.2    Dorrani, N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.