Mechanisms of disease: neurogenetics of MeCP2 deficiency (Q28260093)

Nature Clinical Practice Neurology

Europe PubMed Central

title

Mechanisms of disease: neurogenetics of MeCP2 deficiency (English)

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Uta Francke

1

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language of work or name

English

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publication date

April 2006

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published in

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volume

2

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issue

4

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page(s)

212-21

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cites work

Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation

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MECP2 mutation analysis in patients with mental retardation.

21 January 2018

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MECP2 is progressively expressed in post-migratory neurons and is involved in neuronal maturation rather than cell fate decisions

21 January 2018

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MeCP2 mutations in children with and without the phenotype of Rett syndrome

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Rett syndrome in females with CTS hot spot deletions: a disorder profile

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Two affected boys in a Rett syndrome family: clinical and molecular findings

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Epigenetic control of gene expression.

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Abnormal general movements in girls with Rett disorder: the first four months of life.

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7 January 2021

A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.

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7 January 2021

A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map.

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7 January 2021

Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28.

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7 January 2021

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

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7 January 2021

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots

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7 January 2021

Large genomic rearrangements in MECP2

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7 January 2021

A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

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7 January 2021

The major form of MeCP2 has a novel N-terminus generated by alternative splicing

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7 January 2021

Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome

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7 January 2021

Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.

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7 January 2021

Influence of mutation type and location on phenotype in 123 patients with Rett syndrome

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7 January 2021

Refining the phenotype of common mutations in Rett syndrome.

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7 January 2021

MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism

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7 January 2021

MECP2 mutation in non-fatal, non-progressive encephalopathy in a male

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7 January 2021

Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS.

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7 January 2021

MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.

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7 January 2021

De novo MECP2 mutation in a 46,XX male patient with Rett syndrome

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7 January 2021

Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males

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7 January 2021

Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy

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7 January 2021

Rett syndrome: clinical manifestations in males with MECP2 mutations

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7 January 2021

Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2

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7 January 2021

A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males

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7 January 2021

Low frequency of MECP2 mutations in mentally retarded males.

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7 January 2021

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

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7 January 2021

Early onset seizures and Rett-like features associated with mutations in CDKL5.

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7 January 2021

The methyl-CpG binding protein MeCP2 is essential for embryonic development in the mouse.

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7 January 2021

Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice

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7 January 2021

A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome

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7 January 2021

Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3

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7 January 2021

Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice

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7 January 2021

Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.

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7 January 2021

Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations

1 reference

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7 January 2021

Olfactory biopsies demonstrate a defect in neuronal development in Rett's syndrome.

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https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021

Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation

1 reference

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7 January 2021

The expression of methyl CpG binding factor MeCP2 correlates with cellular differentiation in the developing rat brain and in cultured cells

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021

A transcriptional repressor MeCP2 causing Rett syndrome is expressed in embryonic non-neuronal cells and controls their growth

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021

The transcriptional repressor Mecp2 regulates terminal neuronal differentiation

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021

Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA

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https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021

MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021

The Ski protein family is required for MeCP2-mediated transcriptional repression

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021

Brahma links the SWI/SNF chromatin-remodeling complex with MeCP2-dependent transcriptional silencing

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021

MeCP2 behaves as an elongated monomer that does not stably associate with the Sin3a chromatin remodeling complex

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021

The DNA methyltransferases associate with HP1 and the SUV39H1 histone methyltransferase

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021

Methyl-CpG-binding protein, MeCP2, is a target molecule for maintenance DNA methyltransferase, Dnmt1

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021

Components of the DNA methylation system of chromatin control are RNA-binding proteins

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021

A WW domain binding region in methyl-CpG-binding protein MeCP2: impact on Rett syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021

Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021

A matrix/scaffold attachment region binding protein: Identification, purification, and mode of binding

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021

The methyl-CpG binding transcriptional repressor MeCP2 stably associates with nucleosomal DNA

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021

Chromatin compaction by human MeCP2. Assembly of novel secondary chromatin structures in the absence of DNA methylation

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021

Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021

MECP2 mutations in Rett syndrome adversely affect lymphocyte growth, but do not affect imprinted gene expression in blood or brain.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021

Dlx5, the mouse homologue of the human-imprinted DLX5 gene, is biallelically expressed in the mouse brain.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021

Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021

MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021

Normal histone modifications on the inactive X chromosome in ICF and Rett syndrome cells: implications for methyl-CpG binding proteins

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021

Gene expression profiling in postmortem Rett Syndrome brain: differential gene expression and patient classification.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021

Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021

The impact of MECP2 mutations in the expression patterns of Rett syndrome patients.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021

A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021

Derepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021

DNA Methylation-Related Chromatin Remodeling in Activity-Dependent Bdnf Gene Regulation

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021

The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021

Brain-derived neurotrophic factor is required for the maintenance of cortical dendrites

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021

NGF controls dendrite development in hippocampal neurons by binding to p75NTR and modulating the cellular targets of Notch

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021

The neuropathology of Rett syndrome--overview 1994.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021

Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0148

7 January 2021