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Pediatric Neurology
Volume 43, Issue 1
, Pages 35-40
, July 2010
Ocular MECP2 Protein Expression in Patients With and Without Rett Syndrome
References
- Insight into Rett syndrome: MECP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Hum Mol Genet. 2002;11:115–124
- . The clinical recognition and differential diagnosis of Rett syndrome. J Child Neurol. 1988;3;Suppl:S6-16
- . Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999;23:185–188
- International Rett Syndrome Foundation (IRSF). RettBASE: IRSF MECP2 Variation Database [Internet]. Available at: http://MECP2.chw.edu.au. Accessed June, 2009.
- MECP2, a key contributor to neurological disease, activates and represses transcription. Science. 2008;320:1224–1229
- . Characterization of MECP2, a vertebrate DNA binding protein with affinity for methylated DNA. Nucleic Acids Res. 1992;20:5085–5092
- . 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
- . Survey of MECP2 in the Rett syndrome and the non-Rett syndrome brain. J Child Neurol. 2003;18:683–687
- . Expression of the methyl-CpG-binding protein MECP2 in rat brain: an ontogenetic study. Neurobiol Dis. 2004;15:206–211
- . Rett syndrome astrocytes are abnormal and spread MECP2 deficiency through gap junctions. J Neurosci. 2009;29:5051–5061
- . Non-cell autonomous influence of MECP2-deficient glia on neuronal dendritic morphology. Nat Neurosci. 2009;12:311–317
- . Visual function in Rett syndrome. Dev Med Child Neurol. 1995;37:496–504
- . Evoked potentials in the Rett syndrome. Brain Dev. 1990;12:73–76
- . Neurophysiology of Rett syndrome. J Child Neurol. 2005;20:740–746
- . Selective cerebral volume reduction in Rett syndrome: a multiple-approach MR imaging study. AJNR Am J Neuroradiol. 2008;29:436–441
- . Rett syndrome: neuropathology review 2000. Brain Dev. 2001;23(Suppl. 1):S72–S76
- . Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence. Am J Med Genet Suppl. 1986;1:47–59
- Rett syndrome: the complex nature of a monogenic disease. J Mol Med. 2003;81:346–354
- Clinical variability in Rett syndrome. J Child Neurol. 2003;18:662–668
- . Associations between MECP2 mutations, X-chromosome inactivation, and phenotype. Ment Retard Dev Disabil Res Rev. 2002;8:99–105
- . Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome. Hum Mutat. 2003;22:116–120
- 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. 2004;23:234–244
- 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. 2004;36:339–341
- MECP2 mutations in children with and without the phenotype of Rett syndrome. Neurology. 2001;56:1486–1495
- . Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MECP2 on selectivity for association with methylated DNA. Biochemistry. 2000;39:7100–7106
- . The neuropathology of Rett syndrome. Brain Dev. 1992;14:Suppl:S89-98
- . Rett syndrome: a disorder affecting early brain growth. Ann Neurol. 1997;42:3–10
- . Organ growth in Rett syndrome: a postmortem examination analysis. Pediatr Neurol. 1999;20:125–129
- . Selective dendritic alterations in the cortex of Rett syndrome. J Neuropathol Exp Neurol. 1995;54:195–201
- . Decreased dendritic branching in frontal, motor and limbic cortex in Rett syndrome compared with trisomy 21. J Neuropathol Exp Neurol. 1998;57:1013–1017
- White matter impairment in Rett syndrome: diffusion tensor imaging study with clinical correlations. AJNR Am J Neuroradiol. 2010;31:295–299
- Expression of MECP2 in olfactory receptor neurons is developmentally regulated and occurs before synaptogenesis. Mol Cell Neurosci. 2003;22:417–429
- . Neuropathology of Rett syndrome. Ment Retard Dev Disabil Res Rev. 2002;8:72–76
- Expression pattern of the Rett syndrome gene MeCP2 in primate prefrontal cortex. Neurobiol Dis. 2001;8:784–791
- . Rett syndrome and neuronal development. J Child Neurol. 2005;20:759–763
- . A retinal circuit that computes object motion. J Neurosci. 2008;28:6807–6817
PII: S0887-8994(10)00099-8
doi: 10.1016/j.pediatrneurol.2010.02.018
© 2010 Elsevier Inc. All rights reserved.
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Pediatric Neurology
Volume 43, Issue 1
, Pages 35-40
, July 2010
