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Volumn 14, Issue 3, 2012, Pages 253-262

The relationship of Rett syndrome and MECP2 disorders to autism

Author keywords

Autism; Clinical feature; MECP2; Neurodevelopmental disorder; Rett syndrome; Treatment

Indexed keywords

BRAIN DERIVED NEUROTROPHIC FACTOR; BRAIN DERIVED NEUROTROPHIC FACTOR RECEPTOR; METHYL CPG BINDING PROTEIN 2; SOMATOMEDIN C;

EID: 84875776798     PISSN: 12948322     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (98)

References (99)
  • 1
    • 84873055553 scopus 로고
    • Diagnostic and Statistical Manual of Mental Disorders. 4th ed. Washington, DC: American Psychiatric Association
    • American Psychiatric Association
    • American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 4th ed. Washington, DC: American Psychiatric Association; 1994.
    • (1994)
  • 2
    • 33646010905 scopus 로고    scopus 로고
    • Rett syndrome in Australia: a review of the epidemiology
    • Laurvick CL, de Klerk N, Bower C, et al. Rett syndrome in Australia: a review of the epidemiology. J Pediatr. 2006;148:347-352.
    • (2006) J Pediatr , vol.148 , pp. 347-352
    • Laurvick, C.L.1    de Klerk, N.2    Bower, C.3
  • 3
    • 0032830639 scopus 로고    scopus 로고
    • Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl- CpG-binding protein 2
    • 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 protein 2. 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
  • 4
    • 42249095974 scopus 로고    scopus 로고
    • Specific mutations in methyl-CpGbinding protein 2 confer different severity in Rett syndrome
    • Neul JL, Fang P, Barrish J, et al. Specific mutations in methyl-CpGbinding protein 2 confer different severity in Rett syndrome. Neurology. 2008;70:1313-1321.
    • (2008) Neurology , vol.70 , pp. 1313-1321
    • Neul, J.L.1    Fang, P.2    Barrish, J.3
  • 5
    • 78650903501 scopus 로고    scopus 로고
    • Rett syndrome: revised diagnostic criteria and nomenclature
    • Neul JL, Kaufmann WE, Glaze DG, et al. Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol. 2010;68:944-950.
    • (2010) Ann Neurol , vol.68 , pp. 944-950
    • Neul, J.L.1    Kaufmann, W.E.2    Glaze, D.G.3
  • 6
    • 66149139048 scopus 로고    scopus 로고
    • High penetrance of autism and other neuropsychiatric symptoms in individuals with MECP2 duplications
    • Ramocki M, Peters SU, Tavyev YJ, et al. High penetrance of autism and other neuropsychiatric symptoms in individuals with MECP2 duplications. Ann Neurol. 2009;66:771-782.
    • (2009) Ann Neurol , vol.66 , pp. 771-782
    • Ramocki, M.1    Peters, S.U.2    Tavyev, Y.J.3
  • 7
    • 0035094767 scopus 로고    scopus 로고
    • A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
    • Guy J, Hendrich B, Holmes M, Martin JE, Bird A. A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet. 2001;27:322-326.
    • (2001) Nat Genet , vol.27 , pp. 322-326
    • Guy, J.1    Hendrich, B.2    Holmes, M.3    Martin, J.E.4    Bird, A.5
  • 8
    • 0035093830 scopus 로고    scopus 로고
    • Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
    • Chen RZ, Akbarian S, Tudor M, Jaenisch R. Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice. Nat Genet. 2001;27:327-331.
    • (2001) Nat Genet , vol.27 , pp. 327-331
    • Chen, R.Z.1    Akbarian, S.2    Tudor, M.3    Jaenisch, R.4
  • 9
    • 44849101156 scopus 로고    scopus 로고
    • A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome
    • Samaco RC, Fryer JD, Ren J, et al. A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome. Hum Mol Genet. 2008;17:1718-1727.
    • (2008) Hum Mol Genet , vol.17 , pp. 1718-1727
    • Samaco, R.C.1    Fryer, J.D.2    Ren, J.3
  • 10
    • 0037130455 scopus 로고    scopus 로고
    • Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3
    • Shahbazian M, Young J, Yuva-Paylor L, et al. Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron. 2002;35:243-254.
    • (2002) Neuron , vol.35 , pp. 243-254
    • Shahbazian, M.1    Young, J.2    Yuva-Paylor, L.3
  • 11
    • 35548983001 scopus 로고    scopus 로고
    • Ube3a mRNA and protein expression are not decreased in Mecp2R168X mutant mice
    • Lawson-Yuen A, Liu D, Han L, et al. Ube3a mRNA and protein expression are not decreased in Mecp2R168X mutant mice. Brain Res. 2007;1180:1- 6.
    • (2007) Brain Res , vol.1180 , pp. 1-6
    • Lawson-Yuen, A.1    Liu, D.2    Han, L.3
  • 12
    • 84856270235 scopus 로고    scopus 로고
    • Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses
    • Goffin D, Allen M, Zhang L, et al. Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses. Nat Neurosci. 2012;15:274-283.
    • (2012) Nat Neurosci , vol.15 , pp. 274-283
    • Goffin, D.1    Allen, M.2    Zhang, L.3
  • 13
    • 84919847627 scopus 로고    scopus 로고
    • Reversal of neurological defects in a mouse model of Rett syndrome
    • Guy J, Gan J, Selfridge J, Cobb S, Bird A. Reversal of neurological defects in a mouse model of Rett syndrome. Science. 2007;8:8.
    • (2007) Science , vol.8 , pp. 8
    • Guy, J.1    Gan, J.2    Selfridge, J.3    Cobb, S.4    Bird, A.5
  • 14
    • 1642367538 scopus 로고    scopus 로고
    • Rett syndrome: a prototypical neurodevelopmental disorder
    • Neul JL, Zoghbi HY. Rett syndrome: a prototypical neurodevelopmental disorder. Neuroscientist. 2004;10:118-128.
    • (2004) Neuroscientist , vol.10 , pp. 118-128
    • Neul, J.L.1    Zoghbi, H.Y.2
  • 15
    • 33645218385 scopus 로고    scopus 로고
    • Rett syndrome: a Rosetta stone for understanding the molecular pathogenesis of autism
    • LaSalle JM, Hogart A, Thatcher KN. Rett syndrome: a Rosetta stone for understanding the molecular pathogenesis of autism. Int Rev Neurobiol. 2005;71:131-165.
    • (2005) Int Rev Neurobiol , vol.71 , pp. 131-165
    • LaSalle, J.M.1    Hogart, A.2    Thatcher, K.N.3
  • 16
    • 0014011176 scopus 로고
    • [On a unusual brain atrophy syndrome in hyperammonemia in childhood]
    • Rett A. [On a unusual brain atrophy syndrome in hyperammonemia in childhood]. Wien Med Wochenschr. 1966;116:723-726.
    • (1966) Wien Med Wochenschr , vol.116 , pp. 723-726
    • Rett, A.1
  • 17
    • 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
  • 18
    • 0036270792 scopus 로고    scopus 로고
    • Clinical manifestations and stages of Rett syndrome
    • Hagberg B. Clinical manifestations and stages of Rett syndrome. Ment Retard Dev Disabil Res Rev. 2002;8:61-65.
    • (2002) Ment Retard Dev Disabil Res Rev , vol.8 , pp. 61-65
    • Hagberg, B.1
  • 20
    • 0024996063 scopus 로고
    • Rett syndrome and associated movement disorders
    • FitzGerald PM, Jankovic J, Percy AK. Rett syndrome and associated movement disorders. Mov Disord. 1990;5:195-202.
    • (1990) Mov Disord , vol.5 , pp. 195-202
    • FitzGerald, P.M.1    Jankovic, J.2    Percy, A.K.3
  • 22
    • 0033512353 scopus 로고    scopus 로고
    • Oropharyngeal dysfunction and gastroesophageal dysmotility are present in girls and women with Rett syndrome
    • Motil KJ, Schultz RJ, Browning K, Trautwein L, Glaze DG. Oropharyngeal dysfunction and gastroesophageal dysmotility are present in girls and women with Rett syndrome. J Pediatr Gastroenterol Nutr. 1999;29:31-37.
    • (1999) J Pediatr Gastroenterol Nutr , vol.29 , pp. 31-37
    • Motil, K.J.1    Schultz, R.J.2    Browning, K.3    Trautwein, L.4    Glaze, D.G.5
  • 23
    • 77950503200 scopus 로고    scopus 로고
    • Epilepsy and the natural history of Rett syndrome
    • Glaze DG, Percy AK, Skinner S, et al. Epilepsy and the natural history of Rett syndrome. Neurology. 2010;74:909-912.
    • (2010) Neurology , vol.74 , pp. 909-912
    • Glaze, D.G.1    Percy, A.K.2    Skinner, S.3
  • 25
    • 33745892132 scopus 로고    scopus 로고
    • Vagus nerve stimulation for treatment of epilepsy in Rett syndrome
    • Wilfong AA, Schultz RJ. Vagus nerve stimulation for treatment of epilepsy in Rett syndrome. Dev Med Child Neurol. 2006;48:683-686.
    • (2006) Dev Med Child Neurol , vol.48 , pp. 683-686
    • Wilfong, A.A.1    Schultz, R.J.2
  • 27
    • 0035409467 scopus 로고    scopus 로고
    • Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder
    • Julu PO, Kerr AM, Apartopoulos F, et al. Characterisation 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
  • 29
    • 33748899822 scopus 로고    scopus 로고
    • Autonomic nervous system dysregulation: breathing and heart rate perturbation during wakefulness in young girls with Rett syndrome
    • Weese-Mayer DE, Lieske SP, Boothby CM, et al. Autonomic nervous system dysregulation: breathing and heart rate perturbation during wakefulness in young girls with Rett syndrome. Pediatr Res. 2006;60:443-449.
    • (2006) Pediatr Res , vol.60 , pp. 443-449
    • Weese-Mayer, D.E.1    Lieske, S.P.2    Boothby, C.M.3
  • 30
    • 27144461978 scopus 로고    scopus 로고
    • Assessment of the maturity-related brainstem functions reveals the heterogeneous phenotypes and facilitates clinical management of Rett syndrome
    • Julu PO, Witt Engerstrom I. Assessment of the maturity-related brainstem functions reveals the heterogeneous phenotypes and facilitates clinical management of Rett syndrome. Brain Dev. 2005;27(suppl 1):S43-S53.
    • (2005) Brain Dev , vol.27 , Issue.SUPPL. 1
    • Julu, P.O.1    Witt Engerstrom, I.2
  • 31
    • 0023157148 scopus 로고
    • Rett's syndrome: characterization of respiratory patterns and sleep
    • Glaze DG, Frost JD Jr, Zoghbi HY, Percy AK. Rett's syndrome: characterization of respiratory patterns and sleep. Ann Neurol. 1987;21:377- 382.
    • (1987) Ann Neurol , vol.21 , pp. 377-382
    • Glaze, D.G.1    Frost Jr., J.D.2    Zoghbi, H.Y.3    Percy, A.K.4
  • 33
    • 83655193397 scopus 로고    scopus 로고
    • Pathogenesis of lethal cardiac arrhythmias in mecp2 mutant mice: implication for therapy in Rett syndrome
    • McCauley MD, Wang T, Mike E, et al. Pathogenesis of lethal cardiac arrhythmias in mecp2 mutant mice: implication for therapy in Rett syndrome. Sci Transl Med. 2011;3:113ra125.
    • (2011) Sci Transl Med , vol.3
    • McCauley, M.D.1    Wang, T.2    Mike, E.3
  • 35
    • 0032764776 scopus 로고    scopus 로고
    • Reduced heart rate variability in patients affected with Rett syndrome.A possible explanation for sudden death
    • Guideri F, Acampa M, Hayek G, Zappella M, Di Perri T. Reduced heart rate variability in patients affected with Rett syndrome. A possible explanation for sudden death. Neuropediatrics. 1999;30:146-148.
    • (1999) Neuropediatrics. , vol.30 , pp. 146-148
    • Guideri, F.1    Acampa, M.2    Hayek, G.3    Zappella, M.4    Di Perri, T.5
  • 36
    • 0022527714 scopus 로고
    • Autism and Rett syndrome: some notes on differential diagnosis
    • Gillberg C. Autism and Rett syndrome: some notes on differential diagnosis. Am J Med Genet Suppl. 1986; 1: 127-131.
    • (1986) Am J Med Genet Suppl , vol.1 , pp. 127-131
    • Gillberg, C.1
  • 37
    • 0023608401 scopus 로고
    • Autistic symptoms in Rett syndrome: the first two years according to mother reports
    • Gillberg C. Autistic symptoms in Rett syndrome: the first two years according to mother reports. Brain Dev. 1987;9:499-501.
    • (1987) Brain Dev , vol.9 , pp. 499-501
    • Gillberg, C.1
  • 38
    • 0027101923 scopus 로고
    • Is Rett syndrome a subtype of pervasive developmental disorders?
    • Tsai LY. Is Rett syndrome a subtype of pervasive developmental disorders? J Autism Dev Disord. 1992;22:551-561.
    • (1992) J Autism Dev Disord , vol.22 , pp. 551-561
    • Tsai, L.Y.1
  • 39
    • 41849126341 scopus 로고    scopus 로고
    • The diagnosis of autism in a female: could it be Rett syndrome?
    • Young DJ, Bebbington A, Anderson A, et al. The diagnosis of autism in a female: could it be Rett syndrome? Eur J Pediatr. 2008;1 67:661-669.
    • (2008) Eur J Pediatr , vol.167 , pp. 661-669
    • Young, D.J.1    Bebbington, A.2    Anderson, A.3
  • 41
    • 84856885146 scopus 로고    scopus 로고
    • Social impairments in Rett syndrome: characteristics and relationship with clinical severity
    • Kaufmann WE, Tierney E, Rohde CA, et al. Social impairments in Rett syndrome: characteristics and relationship with clinical severity. J Intellect Disabil Res. 2011;56:233-247.
    • (2011) J Intellect Disabil Res , vol.56 , pp. 233-247
    • Kaufmann, W.E.1    Tierney, E.2    Rohde, C.A.3
  • 45
    • 84859528225 scopus 로고    scopus 로고
    • Social preferences in Rett syndrome
    • Djukic A, McDermott MV. Social preferences in Rett syndrome. Pediatr Neurol. 2012; 46: 240-242
    • (2012) Pediatr Neurol , vol.46 , pp. 240-242
    • Djukic, A.1    McDermott, M.V.2
  • 49
    • 77951715528 scopus 로고    scopus 로고
    • Linking MECP2 and pain sensitivity: the example of Rett syndrome
    • Downs J, Geranton SM, Bebbington A, et al. Linking MECP2 and pain sensitivity: the example of Rett syndrome. Am J Med Genet A. 2010;152A:1197-1205.
    • (2010) Am J Med Genet A , vol.152 A , pp. 1197-1205
    • Downs, J.1    Geranton, S.M.2    Bebbington, A.3
  • 51
    • 84874190022 scopus 로고    scopus 로고
    • Polysomnographic findings in Rett syndrome: a case-control study
    • Sleep Breath.In press.
    • Carotenuto M, Esposito M, D'Aniello A, et al. Polysomnographic findings in Rett syndrome: a case-control study. Sleep Breath. In press.
    • Carotenuto, M.1    Esposito, M.2    D'Aniello, A.3
  • 52
    • 0032406038 scopus 로고    scopus 로고
    • The preserved speech variant: a subgroup of the Rett complex: a clinical report of 30 cases
    • Zappella M, Gillberg C, Ehlers S. The preserved speech variant: a subgroup of the Rett complex: a clinical report of 30 cases. J Autism Dev Disord. 1998;2 8:519-526.
    • (1998) J Autism Dev Disord , vol.28 , pp. 519-526
    • Zappella, M.1    Gillberg, C.2    Ehlers, S.3
  • 53
    • 0035889272 scopus 로고    scopus 로고
    • Preserved speech variants of the Rett syndrome: molecular and clinical analysis
    • Zappella M, Meloni I, Longo I, Hayek G, Renieri A. Preserved speech variants of the Rett syndrome: molecular and clinical analysis. Am J Med Genet. 2001; 104:14-22
    • (2001) Am J Med Genet , vol.104 , pp. 14-22
    • Zappella, M.1    Meloni, I.2    Longo, I.3    Hayek, G.4    Renieri, A.5
  • 54
    • 58049089902 scopus 로고    scopus 로고
    • Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)
    • Renieri A, Mari F, Mencarelli MA, et al. Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant). Brain Dev. 2008.
    • (2008) Brain Dev
    • Renieri, A.1    Mari, F.2    Mencarelli, M.A.3
  • 55
    • 0035130914 scopus 로고    scopus 로고
    • Epilepsy in a representative series of Rett syndrome
    • Steffenburg U, Hagberg G, Hagberg B. Epilepsy in a representative series of Rett syndrome. Acta Paediatr. 2001;9 0:34-39.
    • (2001) Acta Paediatr , vol.90 , pp. 34-39
    • Steffenburg, U.1    Hagberg, G.2    Hagberg, B.3
  • 56
    • 0021926093 scopus 로고
    • The clinical pattern of the Rett syndrome
    • Hanefeld F. The clinical pattern of the Rett syndrome. Brain Dev. 1985; 7: 320-325
    • (1985) Brain Dev , vol.7 , pp. 320-325
    • Hanefeld, F.1
  • 58
    • 84858320510 scopus 로고    scopus 로고
    • Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases
    • Pini G, Bigoni S, Engerstrom IW, et al. Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases. Neuropediatrics. 2012;43:37-43.
    • (2012) Neuropediatrics , vol.43 , pp. 37-43
    • Pini, G.1    Bigoni, S.2    Engerstrom, I.W.3
  • 59
    • 44849144752 scopus 로고    scopus 로고
    • The three stages of epilepsy in patients with CDKL5 mutations
    • Bahi-Buisson N, Kaminska A, Boddaert N, et al. The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia. 2008;49:1027-1037.
    • (2008) Epilepsia , vol.49 , pp. 1027-1037
    • Bahi-Buisson, N.1    Kaminska, A.2    Boddaert, N.3
  • 60
    • 33749242599 scopus 로고    scopus 로고
    • CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients
    • Archer HL, Evans J, Edwards S, et al. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet. 2006;43:729-734.
    • (2006) J Med Genet , vol.43 , pp. 729-734
    • Archer, H.L.1    Evans, J.2    Edwards, S.3
  • 61
    • 0022005250 scopus 로고
    • Rett syndrome: report of eight cases
    • Rolando S. Rett syndrome: report of eight cases. Brain Dev. 1985;7:290-296.
    • (1985) Brain Dev , vol.7 , pp. 290-296
    • Rolando, S.1
  • 62
    • 46149122036 scopus 로고    scopus 로고
    • FOXG1 is responsible for the congenital variant of Rett syndrome
    • Ariani F, Hayek G, Rondinella D, et al. FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet. 2008;83:89-93.
    • (2008) Am J Hum Genet , vol.83 , pp. 89-93
    • Ariani, F.1    Hayek, G.2    Rondinella, D.3
  • 63
    • 0034701904 scopus 로고    scopus 로고
    • Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients
    • Huppke P, Laccone F, Kramer N, Engel W, Hanefeld F. Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. Hum Mol Genet. 2000;9:1369-1375.
    • (2000) Hum Mol Genet , vol.9 , pp. 1369-1375
    • Huppke, P.1    Laccone, F.2    Kramer, N.3    Engel, W.4    Hanefeld, F.5
  • 64
    • 79958061872 scopus 로고    scopus 로고
    • The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis
    • Kortum F, Das S, Flindt M, et al. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet. 2011;48:396-406.
    • (2011) J Med Genet , vol.48 , pp. 396-406
    • Kortum, F.1    Das, S.2    Flindt, M.3
  • 65
    • 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
  • 67
    • 18144425480 scopus 로고    scopus 로고
    • Another patient with MECP2 mutation without classic Rett syndrome phenotype
    • Milani D, Pantaleoni C, D'Arrigo S, Selicorni A, Riva D. Another patient with MECP2 mutation without classic Rett syndrome phenotype. Pediatr Neurol. 2005;32:355-357.
    • (2005) Pediatr Neurol , vol.32 , pp. 355-357
    • Milani, D.1    Pantaleoni, C.2    D'Arrigo, S.3    Selicorni, A.4    Riva, D.5
  • 69
    • 0038354500 scopus 로고    scopus 로고
    • The spectrum of phenotypes in females with Rett Syndrome
    • Huppke P, Held M, Laccone F, Hanefeld F. The spectrum of phenotypes in females with Rett Syndrome. Brain Dev. 2003;25:346-351.
    • (2003) Brain Dev , vol.25 , pp. 346-351
    • Huppke, P.1    Held, M.2    Laccone, F.3    Hanefeld, F.4
  • 71
    • 34247370132 scopus 로고    scopus 로고
    • Sequence variants within exon 1 of MECP2 occur in females with mental retardation
    • Harvey CG, Menon SD, Stachowiak B, et al. Sequence variants within exon 1 of MECP2 occur in females with mental retardation. Am J Med Genet B Neuropsychiatr Genet. 2007;144B:355-360.
    • (2007) Am J Med Genet B Neuropsychiatr Genet , vol.144 B , pp. 355-360
    • Harvey, C.G.1    Menon, S.D.2    Stachowiak, B.3
  • 72
    • 22244480982 scopus 로고    scopus 로고
    • Mutation analysis of methyl-CpG binding protein family genes in autistic patients
    • Li H, Yamagata T, Mori M, Yasuhara A, Momoi MY. Mutation analysis of methyl-CpG binding protein family genes in autistic patients. Brain Dev. 2005;27:321-325.
    • (2005) Brain Dev , vol.27 , pp. 321-325
    • Li, H.1    Yamagata, T.2    Mori, M.3    Yasuhara, A.4    Momoi, M.Y.5
  • 74
    • 0034865096 scopus 로고    scopus 로고
    • No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients
    • Vourc'h P, Bienvenu T, Beldjord C, et al. No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients. Eur J Hum Genet. 2001;9:556-558.
    • (2001) Eur J Hum Genet , vol.9 , pp. 556-558
    • Vourc'h, P.1    Bienvenu, T.2    Beldjord, C.3
  • 75
    • 0038626842 scopus 로고    scopus 로고
    • Identification of MeCP2 mutations in a series of females with autistic disorder
    • Carney RM, Wolpert CM, Ravan SA, et al. Identification of MeCP2 mutations in a series of females with autistic disorder. Pediatr Neurol. 2003;28:205-211.
    • (2003) Pediatr Neurol , vol.28 , pp. 205-211
    • Carney, R.M.1    Wolpert, C.M.2    Ravan, S.A.3
  • 76
    • 34250849699 scopus 로고    scopus 로고
    • MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients
    • Coutinho AM, Oliveira G, Katz C, et al. MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients. Am J Med Genet B Neuropsychiatr Genet. 2007;144B:475-483.
    • (2007) Am J Med Genet B Neuropsychiatr Genet , vol.144 B , pp. 475-483
    • Coutinho, A.M.1    Oliveira, G.2    Katz, C.3
  • 77
    • 3042847437 scopus 로고    scopus 로고
    • MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism
    • Shibayama A, Cook EH, Jr, Feng J, et al. MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism. Am J Med Genet B Neuropsychiatr Genet. 2004;128:50-53.
    • (2004) Am J Med Genet B Neuropsychiatr Genet , vol.128 , pp. 50-53
    • Shibayama, A.1    Cook Jr., E.H.2    Feng, J.3
  • 78
    • 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
  • 79
    • 0034891348 scopus 로고    scopus 로고
    • Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene
    • Schwartzman JS, Bernardino A, Nishimura A, Gomes RR, Zatz M. Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene. Neuropediatrics. 2001;32:162-164.
    • (2001) Neuropediatrics , vol.32 , pp. 162-164
    • Schwartzman, J.S.1    Bernardino, A.2    Nishimura, A.3    Gomes, R.R.4    Zatz, M.5
  • 80
    • 0034761333 scopus 로고    scopus 로고
    • Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation
    • Armstrong J, Pineda M, Aibar E, Gean E, Monros E. Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation. Ann Neurol. 2001;50:692.
    • (2001) Ann Neurol , vol.50 , pp. 692
    • Armstrong, J.1    Pineda, M.2    Aibar, E.3    Gean, E.4    Monros, E.5
  • 81
    • 0034596477 scopus 로고    scopus 로고
    • Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males
    • Clayton-Smith J, Watson P, Ramsden S, Black GC. Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males. Lancet. 2000;356:830-832.
    • (2000) Lancet , vol.356 , pp. 830-832
    • Clayton-Smith, J.1    Watson, P.2    Ramsden, S.3    Black, G.C.4
  • 82
    • 33746861632 scopus 로고    scopus 로고
    • Early progressive encephalopathy in boys and MECP2 mutations
    • Kankirawatana P, Leonard H, Ellaway C, et al. Early progressive encephalopathy in boys and MECP2 mutations. Neurology. 2006;67:164-166.
    • (2006) Neurology , vol.67 , pp. 164-166
    • Kankirawatana, P.1    Leonard, H.2    Ellaway, C.3
  • 83
    • 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
  • 84
    • 18244432131 scopus 로고    scopus 로고
    • MECP2 mutation in male patients with non-specific X-linked mental retardation
    • Orrico A, Lam C, Galli L, et al. MECP2 mutation in male patients with non-specific X-linked mental retardation. FEBS Lett. 2000;481:285-288.
    • (2000) FEBS Lett , vol.481 , pp. 285-288
    • Orrico, A.1    Lam, C.2    Galli, L.3
  • 85
    • 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, Frank Kooy R. 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    Frank Kooy, R.5
  • 86
    • 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
  • 88
    • 8444253290 scopus 로고    scopus 로고
    • Mild overexpression of MeCP2 causes a progressive neurological disorder in mice
    • Collins AL, Levenson JM, Vilaythong AP, et al. Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum Mol Genet. 2004;13:2679-2689.
    • (2004) Hum Mol Genet , vol.13 , pp. 2679-2689
    • Collins, A.L.1    Levenson, J.M.2    Vilaythong, A.P.3
  • 89
    • 62849107557 scopus 로고    scopus 로고
    • Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
    • Lugtenberg D, Kleefstra T, Oudakker AR, et al. Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. Eur J Hum Genet. 2009;17:444-453.
    • (2009) Eur J Hum Genet , vol.17 , pp. 444-453
    • Lugtenberg, D.1    Kleefstra, T.2    Oudakker, A.R.3
  • 90
    • 33749081269 scopus 로고    scopus 로고
    • Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males
    • del Gaudio D, Fang P, Scaglia F, et al. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006;8:784-792.
    • (2006) Genet Med , vol.8 , pp. 784-792
    • del Gaudio, D.1    Fang, P.2    Scaglia, F.3
  • 91
    • 33845772985 scopus 로고    scopus 로고
    • Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28
    • Friez MJ, Jones JR, Clarkson K, et al. Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. Pediatrics. 2006;118:e1687-1695.
    • (2006) Pediatrics , vol.118
    • Friez, M.J.1    Jones, J.R.2    Clarkson, K.3
  • 92
    • 23944503759 scopus 로고    scopus 로고
    • Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males
    • Van Esch H, Bauters M, Ignatius J, et al. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet. 2005;77:442-453.
    • (2005) Am J Hum Genet , vol.77 , pp. 442-453
    • Van Esch, H.1    Bauters, M.2    Ignatius, J.3
  • 93
    • 51449090280 scopus 로고    scopus 로고
    • Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections
    • Smyk M, Obersztyn E, Nowakowska B, et al. Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections. Am J Med Genet B Neuropsychiatr Genet. 2008;147B:799-806.
    • (2008) Am J Med Genet B Neuropsychiatr Genet , vol.147 B , pp. 799-806
    • Smyk, M.1    Obersztyn, E.2    Nowakowska, B.3
  • 94
    • 79960416688 scopus 로고    scopus 로고
    • MeCP2 is critical within HoxB1-derived tissues of mice for normal lifespan
    • Ward CS, Arvide EM, Huang TW, Yoo J, Noebels JL, Neul JL. MeCP2 is critical within HoxB1-derived tissues of mice for normal lifespan. J Neurosci. 2011;31:10359-10370.
    • (2011) J Neurosci , vol.31 , pp. 10359-10370
    • Ward, C.S.1    Arvide, E.M.2    Huang, T.W.3    Yoo, J.4    Noebels, J.L.5    Neul, J.L.6
  • 95
    • 76049091733 scopus 로고    scopus 로고
    • Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities
    • U S A
    • Samaco RC, Mandel-Brehm C, Chao HT, et al. Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities. Proc Natl Acad Sci U S A. 2009;106:21966-21971.
    • (2009) Proc Natl Acad Sci , vol.106 , pp. 21966-21971
    • Samaco, R.C.1    Mandel-Brehm, C.2    Chao, H.T.3
  • 96
    • 31444434393 scopus 로고    scopus 로고
    • The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression
    • Chang Q, Khare G, Dani V, Nelson S, Jaenisch R. The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression. Neuron. 2006;49:341-348.
    • (2006) Neuron , vol.49 , pp. 341-348
    • Chang, Q.1    Khare, G.2    Dani, V.3    Nelson, S.4    Jaenisch, R.5
  • 97
    • 35148840586 scopus 로고    scopus 로고
    • Brainderived neurotrophic factor expression and respiratory function improve after ampakine treatment in a mouse model of Rett syndrome
    • Ogier M, Wang H, Hong E, Wang Q, Greenberg ME, Katz DM. Brainderived neurotrophic factor expression and respiratory function improve after ampakine treatment in a mouse model of Rett syndrome. J Neurosci. 2007;27:10912-10917.
    • (2007) J Neurosci , vol.27 , pp. 10912-10917
    • Ogier, M.1    Wang, H.2    Hong, E.3    Wang, Q.4    Greenberg, M.E.5    Katz, D.M.6
  • 98
    • 84863025204 scopus 로고    scopus 로고
    • A TrkB small molecule partial agonist rescues TrkB phosphorylation deficits and improves respiratory function in a mouse model of Rett syndrome
    • Schmid DA, Yang T, Ogier M, et al. A TrkB small molecule partial agonist rescues TrkB phosphorylation deficits and improves respiratory function in a mouse model of Rett syndrome. J Neurosci. 2012;32:1803-1810.
    • (2012) J Neurosci , vol.32 , pp. 1803-1810
    • Schmid, D.A.1    Yang, T.2    Ogier, M.3
  • 99
    • 60549115413 scopus 로고    scopus 로고
    • Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice
    • Tropea D, Giacometti E, Wilson NR, et al. Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice. Proc Natl Acad Sci U S A. 2009;106:2029-2034.
    • (2009) Proc Natl Acad Sci U S A , vol.106 , pp. 2029-2034
    • Tropea, D.1    Giacometti, E.2    Wilson, N.R.3


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