Genetic basis of Rett syndrome (Q34733498)

4 August 2017

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title

Genetic basis of Rett syndrome (English)

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4 August 2017

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2

Huda Y Zoghbi

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author name string

Ignatia B Van den Veyver

series ordinal

1

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4 August 2017

1 January 2002

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Mental Retardation and Developmental Disabilities Research Reviews

4 August 2017

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4 August 2017

8

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4 August 2017

82-86

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4 August 2017

2

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The X-linked methylated DNA binding protein, Mecp2, is subject to X inactivation in the mouse

4 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

Rett syndrome: A search for gene sources

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

Segregation analysis of the X-chromosome in a family with Rett syndrome in two generations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

MECP2 mutations account for most cases of typical forms of Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

Gene number, noise reduction and biological complexity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3"-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

Preserved speech variant is allelic of classic Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

Isolation, physical mapping, and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

Cytosine methylation transforms an E2F site in the retinoblastoma gene promoter into a binding site for the general repressor methylcytosine-binding protein 2 (MeCP2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

Rett's syndrome: prevalence and impact on progressive severe mental retardation in girls.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

Mutations in the MECP2 gene in a cohort of girls with Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

MeCP2 driven transcriptional repression in vitro: selectivity for methylated DNA, action at a distance and contacts with the basal transcription machinery

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

Methyl-CpG-binding protein MeCP2 represses Sp1-activated transcription of the human leukosialin gene when the promoter is methylated

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FMRDD.10025

Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

DNA methylation specifies chromosomal localization of MeCP2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

DHPLC analysis of the MECP2 gene in Italian Rett patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

MECP2 mutation in male patients with non-specific X-linked mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

Neonatal encephalopathy in two boys in families with recurrent Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

Rett syndrome and the MECP2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

Mutation screening in Rett syndrome patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

Histone deacetylase-independent transcriptional repression by methyl-CpG-binding protein 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

Functional consequences of Rett syndrome mutations on human MeCP2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

Genetic aspects of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

Patterns of X chromosome inactivation in the Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FMRDD.10025

21 January 2018

Identifiers

DOI

10.1002/MRDD.10025

1 reference

4 August 2017

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PubMed ID

12112732