Hayflick SJ, Kruer MC, Gregory A, Haack TB, Kurian MA, Houlden HH, Anderson J, Boddaert N, Sanford L, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Holden KR, Frucht S, Hanspal E, Schrander-Stumpel C, Mignot C, Héron D, Saunders DE, Kaminska M, Lin JP, Lascelles K, Cuno SM, Meyer E, Garavaglia B, Bhatia K, de Silva R, Crisp S, Lunt P, Carey M, Hardy J, Meitinger T, Prokisch H, Hogarth P.

Brain. 2013 Jun;136(Pt 6):1708-17. doi: 10.1093/brain/awt095. Epub 2013 May 17.

PMID:: 23687123; [PubMed - in process]

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Front Cell Neurosci. 2013 May 9;7:64. doi: 10.3389/fncel.2013.00064. Print 2013. No abstract available.

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The experiences of mothers of young adults with an intellectual disability transitioning from secondary school to adult life.

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Figure 2Relevant pathways of altered genes in classical Rett (a) and Zappella Rett variant girls (b).

Only pathways in which at least two altered genes were included, or where one gene was mutated in either both classical Rett (RTT) (a) or both Zappella Rett variant (Z-RTT) (b) patients have been included. Genes that are involved in only one pathway are in white. Genes that are involved in more than one pathway are indicated with the same color. For each pathway the code assigned in the Kyoto Encyclopedia of Genes and Genomes (KEGG) database is indicated (see File S1). For each gene the mutation type is indicated.

Revealing the Complexity of a Monogenic Disease: Rett Syndrome Exome Sequencing

PLoS One. 2013;8(2):e56599.
Figure 1Using iPSCs to model Rett syndrome in vitro

Mutations in the methyl-CpG binding protein (MeCP2) gene cause the neurodevelopmental disorder Rett syndrome. Marchetto et al. (2010) isolate fibroblasts from Rett patients with MeCP2 mutations. They then reprogram these cells into induced pluripotent stem cells (iPSCs) by the exogenous expression of the transcription factors Oct4, Sox2, Klf4 and c-Myc. These Rett-iPSCs can then differentiate into neurons in vitro, recapitulating several of the defects found in Rett syndrome patients and in animal models of the disease. These defects can be partially reversed by candidate drugs, suggesting that this disease model will facilitate large-scale drug screens and future mechanistic studies of Rett syndrome.

Modeling Rett Syndrome with Stem Cells

Cell. 2010 November 12;143(4):499-500.
Figure 2Overall Survival of Atypical (2A) and Typical (2B) Rett Syndrome

Kaplan-Meier curves indicate significantly better survival for individuals with atypical versus typical Rett syndrome (Log-rank test p< 0.0003). Nevertheless, the potential for survival into middle age is demonstrated for both groups.

Longevity in Rett Syndrome: Analysis of the North American Database

J Pediatr. 2010 January;156(1):135-138.e1.
FIGURE 1

The birth prevalence of classical and atypical Rett syndrome in Australia between 1976 and 2006 in those diagnosed between 1982 and 2008-smoothed over two years. ■: birth prevalence of girls with classical Rett syndrome; ✱: birth prevalence of girls with atypical Rett syndrome.

Trends in the diagnosis of Rett syndrome in Australia

Pediatr Res. 2011 September;70(3):313-319.

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393 free full-text articles in PubMed Central

MeCP2 Regulates the Synaptic Expression of a Dysbindin-BLOC-1 Network Component in Mouse Brain and Human Induced Pluripotent Stem Cell-Derived Neurons. [PLoS One. 2013]
MeCP2 Regulates the Synaptic Expression of a Dysbindin-BLOC-1 Network Component in Mouse Brain and Human Induced Pluripotent Stem Cell-Derived Neurons.
Larimore J, Ryder PV, Kim KY, Ambrose LA, Chapleau C, Calfa G, Gross C, Bassell GJ, Pozzo-Miller L, Smith Y, et al. PLoS One. 2013; 8(6):e65069. Epub 2013 Jun 4.
Perioperative management of a patient with Rett syndrome. [Int J Clin Exp Med. 2013]
Perioperative management of a patient with Rett syndrome.
Kako H, Martin DP, Cartabuke R, Beebe A, Klamar J, Tobias JD. Int J Clin Exp Med. 2013; 6(5):393-403. Epub 2013 May 22.
Vascular dysfunction in a mouse model of rett syndrome and effects of curcumin treatment. [PLoS One. 2013]
Vascular dysfunction in a mouse model of rett syndrome and effects of curcumin treatment.
Panighini A, Duranti E, Santini F, Maffei M, Pizzorusso T, Funel N, Taddei S, Bernardini N, Ippolito C, Virdis A, et al. PLoS One. 2013; 8(5):e64863. Epub 2013 May 21.