The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome
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Title
The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome
Authors
Keywords
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Journal
HUMAN MOLECULAR GENETICS
Volume 25, Issue 3, Pages 558-570
Publisher
Oxford University Press (OUP)
Online
2015-12-31
DOI
10.1093/hmg/ddv496
References
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Related references
Note: Only part of the references are listed.- Disruption of DNA-methylation-dependent long gene repression in Rett syndrome
- (2015) Harrison W. Gabel et al. NATURE
- Rett syndrome: a complex disorder with simple roots
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- Unusual Characteristics of the DNA Binding Domain of Epigenetic Regulatory Protein MeCP2 Determine Its Binding Specificity
- (2014) Sergei Khrapunov et al. BIOCHEMISTRY
- Methyl-CpG-binding protein 2(MECP2) mutation type is associated with disease severity in Rett syndrome
- (2014) Vishnu Anand Cuddapah et al. JOURNAL OF MEDICAL GENETICS
- Cell-Type-Specific Repression by Methyl-CpG-Binding Protein 2 Is Biased toward Long Genes
- (2014) K. Sugino et al. JOURNAL OF NEUROSCIENCE
- Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice
- (2014) Laura Dean Heckman et al. eLife
- Methylation-Dependent and -Independent Genomic Targeting Principles of the MBD Protein Family
- (2013) Tuncay Baubec et al. CELL
- Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor
- (2013) Matthew J Lyst et al. NATURE NEUROSCIENCE
- Global Epigenomic Reconfiguration During Mammalian Brain Development
- (2013) R. Lister et al. SCIENCE
- MeCP2 Binds to 5hmC Enriched within Active Genes and Accessible Chromatin in the Nervous System
- (2012) Marian Mellén et al. CELL
- Postnatal inactivation reveals enhanced requirement for MeCP2 at distinct age windows
- (2012) Hélène Cheval et al. HUMAN MOLECULAR GENETICS
- Recognition and potential mechanisms for replication and erasure of cytosine hydroxymethylation
- (2012) Hideharu Hashimoto et al. NUCLEIC ACIDS RESEARCH
- Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses
- (2011) Darren Goffin et al. NATURE NEUROSCIENCE
- Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model
- (2010) Cornelia Brendel et al. JOURNAL OF MOLECULAR MEDICINE-JMM
- A methyl-CpG-binding protein 2–enhanced green fluorescent protein reporter mouse model provides a new tool for studying the neuronal basis of Rett syndrome
- (2009) Ralf S. Schmid et al. NEUROREPORT
- A Temporal Threshold for Formaldehyde Crosslinking and Fixation
- (2009) Lars Schmiedeberg et al. PLoS One
- Rett Syndrome-causing Mutations in Human MeCP2 Result in Diverse Structural Changes That Impact Folding and DNA Interactions
- (2008) Rajarshi P. Ghosh et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Analysis of protein domains and Rett syndrome mutations indicate that multiple regions influence chromatin-binding dynamics of the chromatin-associated protein MECP2 in vivo
- (2008) A. Kumar et al. JOURNAL OF CELL SCIENCE
- MeCP2 Binding to DNA Depends upon Hydration at Methyl-CpG
- (2008) Kok Lian Ho et al. MOLECULAR CELL
- Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome
- (2008) J. L. Neul et al. NEUROLOGY
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