The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome
出版年份 2015 全文链接
标题
The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome
作者
关键词
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出版物
HUMAN MOLECULAR GENETICS
Volume 25, Issue 3, Pages 558-570
出版商
Oxford University Press (OUP)
发表日期
2015-12-31
DOI
10.1093/hmg/ddv496
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- 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
- (2015) Matthew J. Lyst et al. NATURE REVIEWS GENETICS
- 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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