Recent progress in our understanding of Rett syndrome has been dramatic. Against the background that the clinical features of Rett syndrome may be reversible, in part or in whole, substantial optimism has emerged regarding possible therapies. As such, it is timely to update recent research progress. This update summarizes research advances during the past 18 to 24 months in terms of clinical and translational research, as well as basic research.
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Collins AL, Levenson JM, Vilaythong AP, et al. Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum Mol Genet. 2004;13(21):2679-2689.
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Archer HL, Evans J., Leonard H., et al. Correlation between clinical severity in Rett syndrome patients with a p.R168X or p.T158M MECP2 mutation and the direction and degree of skewing of X-chromosome inactivation. J Med Genet. 2007;44(2):148-152.
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Paterson DS , Thompson EG, Belliveau RA, et al. Serotonin transporter abnormality in the dorsal motor nucleus of the vagus in Rett syndrome: potential implications for clinical autonomic dysfunction. J Neuropathol Exp Neurol . 2005;64(11):1018-1027.
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Stauder JE, Smeets EE, van Mil SG, Curfs LGThe development of visual- and auditory processing in Rett syndrome: an ERP study. Brain Dev. 2006;28(8):487-494.
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Stach BA, Stoner WR, Smith SL, Jerger JFAuditory evoked potentials in Rett syndrome. J Am Acad Audiol . 1994;5(3):226-230.
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Motil KJ, Schultz RJ, Abrams S., et al. Fractional calcium absorption is increased in girls with Rett syndrome. J Pediatr Gastroenterol Nutr. 2006 ;42(4):419-426.
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Laurvick CL , Msall ME, Silburn S., et al. Physical and mental health of mothers caring for a child with Rett syndrome. Pediatrics. 2006;118(4):e1152-e1164.
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Smeets EE, Julu PO, van Waardenburg D., et al. Management of a severe forceful breather with Rett syndrome using carbogen. Brain Dev. 2006;28(10):625-632.
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Evans JC, Archer HL, Whatley SD, Clarke A.Germline mosaicism for a MECP2 mutation in a man with two Rett daughters. Clin Genet. 2006;70(4):336-338.
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Chang Q., Khare G., Dani V., et al. The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression. Neuron. 2006 ;49(3):341-348.
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Bissonnette JM, Knopp SJSeparate respiratory phenotypes in methyl-CpG-binding protein 2 (Mecp2) deficient mice. Pediatr Res. 2006;59(4)(pt 1):513-518.
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Roux JC, Dura E., Moncla A., et al. Treatment with desipramine improves breathing and survival in a mouse model for Rett syndrome. Eur J Neurosci. 2007;25(7):1915-1922.
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Asaka Y., Jugloff DG, Zhang L., et al. Hippocampal synaptic plasticity is impaired in the Mecp2-null mouse model of Rett syndrome. Neurobiol Dis. 2006;21(1):217-227.
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Nelson ED, Kavalali ET, Monteggia LMMeCP2-dependent transcriptional repression regulates excitatory neurotransmission . Curr Biol. 2006;16(7):710-716.
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Metcalf BM, Mullaney BC, Johnston MV, Blue METemporal shift in methyl-CpG binding protein 2 expression in a mouse model of Rett syndrome. Neuroscience. 2006;139(4):1449-1460.
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McGill BE, Bundle SF, Yaylaoglu MB, et al. Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome. Proc Natl Acad Sci U S A. 2006;103(48):18267-18272.
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Giacometti E., Luikenhuis S., Beard C., Jaenisch R.Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. Proc Natl Acad Sci U S A. 2007;104(6):1931-1936.
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Dragich JM, Kim YH, Arnold AP, Schanen NCDifferential distribution of the MeCP2 splice variants in the postnatal mouse brain. J Comp Neurol. 2007;501(4):526-542.
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Miyake K., Nagai K.Phosphorylation of methyl-CpG binding protein 2 (MeCP2) regulates the intracellular localization during neuronal cell differentiation. Neurochem Int. 2007;50(1):264-270.
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Amaral MD, Chapleau CA, Pozzo-Miller L.Transient receptor potential channels as novel effectors of brain-derived neurotrophic factor signaling: potential implications for Rett syndrome. Pharmacol Ther. 2007;113(2):394-409.
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Sherren N., Pappas BASelective acetylcholine and dopamine lesions in neonatal rats produce distinct patterns of cortical dendritic atrophy in adulthood. Neuroscience . 2005;136(2):445-456.
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Cassel S., Carouge D., Gensburger C., et al. Fluoxetine and cocaine induce the epigenetic factors MeCP2 and MBD1 in adult rat brain. Mol Pharmacol. 2006 ;70(2):487-492.