(Q36514633)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26647311%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

title

The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26647311%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

0 references

1 reference

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2 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26647311%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26647311%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26647311%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Kyla Brown

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26647311%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

John Connelly

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26647311%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Dina De Sousa

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26647311%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Shaun Webb

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26647311%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Jacky Guy

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26647311%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Cara Merusi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26647311%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Martha V Koerner

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26647311%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

publication date

8 December 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26647311%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

published in

Human Molecular Genetics

1 reference

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2 March 2020

volume

1 reference

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2 March 2020

issue

1 reference

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2 March 2020

page(s)

558-570

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26647311%20AND%20SRC:MED&resulttype=core&format=json

Disruption of DNA-methylation-dependent long gene repression in Rett syndrome

2 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4731022

Rett syndrome: a complex disorder with simple roots

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4731022

Cell-type-specific repression by methyl-CpG-binding protein 2 is biased toward long genes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4731022

Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4731022

Unusual characteristics of the DNA binding domain of epigenetic regulatory protein MeCP2 determine its binding specificity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4731022

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4731022

Global epigenomic reconfiguration during mammalian brain development

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4731022

Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4731022

MeCP2 binds to 5hmC enriched within active genes and accessible chromatin in the nervous system.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4731022

Postnatal inactivation reveals enhanced requirement for MeCP2 at distinct age windows

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4731022

Recognition and potential mechanisms for replication and erasure of cytosine hydroxymethylation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4731022

Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4731022

Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4731022

A temporal threshold for formaldehyde crosslinking and fixation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4731022

Rett syndrome-causing mutations in human MeCP2 result in diverse structural changes that impact folding and DNA interactions.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4731022

Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4731022

Analysis of protein domains and Rett syndrome mutations indicate that multiple regions influence chromatin-binding dynamics of the chromatin-associated protein MECP2 in vivo

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4731022

MeCP2 binding to DNA depends upon hydration at methyl-CpG

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4731022

Reversal of neurological defects in a mouse model of Rett syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4731022

Structure-specific binding of MeCP2 to four-way junction DNA through its methyl CpG-binding domain

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4731022

Oxidative damage to methyl-CpG sequences inhibits the binding of the methyl-CpG binding domain (MBD) of methyl-CpG binding protein 2 (MeCP2).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4731022

Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4731022

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4731022

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4731022

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4731022

DNA recognition by the methyl-CpG binding domain of MeCP2.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4731022

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4731022

DNA methylation specifies chromosomal localization of MeCP2.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4731022

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4731022

The CpG dinucleotide and human genetic disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4731022

Methylation-dependent and -independent genomic targeting principles of the MBD protein family.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4731022

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4731022

Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4731022

Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA

21 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26647311

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDV496

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26647311%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26647311%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

PubMed publication ID

26647311

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26647311%20AND%20SRC:MED&resulttype=core&format=json