Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome (Q35492500)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399845%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399845%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

0 references

Vishnu Anand Cuddapah

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399845%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Daniel Tarquinio

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399845%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Michelle L. Olsen

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399845%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

11

Alan K Percy

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399845%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

10

Walter E Kaufmann

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399845%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

12

Jeffrey L Neul

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399845%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

8

Daniel G Glaze

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399845%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

author name string

Rajesh B Pillai

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399845%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Kiran V Shekar

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399845%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Jane B Lane

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399845%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Kathleen J Motil

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399845%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Steven A Skinner

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399845%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Gerald McGwin

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399845%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

language of work or name

English

0 references

publication date

7 January 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399845%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

4 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399845%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

volume

51

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399845%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399845%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

page(s)

152-158

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399845%20AND%20SRC:MED&resulttype=core&format=json

Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR.

4 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=4403764

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4403764

Growth failure and outcome in Rett syndrome: specific growth references

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4403764

Rett syndrome: revised diagnostic criteria and nomenclature

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4403764

Epilepsy and the natural history of Rett syndrome.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4403764

FOXG1 is responsible for the congenital variant of Rett syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4403764

Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant).

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4403764

MeCP2, a key contributor to neurological disease, activates and represses transcription

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4403764

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4403764

Investigating genotype-phenotype relationships in Rett syndrome using an international data set.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4403764

Rett syndrome: North American database

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4403764

Seizures in Rett syndrome: an overview from a one-year calendar study

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4403764

Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4403764

Rett syndrome in Australia: a review of the epidemiology.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4403764

X chromosome inactivation patterns in brain in Rett syndrome: implications for the disease phenotype

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4403764

Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4403764

Describing the phenotype in Rett syndrome using a population database

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4403764

Guidelines for reporting clinical features in cases with MECP2 mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4403764

Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4403764

What's wrong with Bonferroni adjustments

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4403764

DNA methylation specifies chromosomal localization of MeCP2.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4403764

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4403764

The Rett girls with preserved speech

12 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4403764

12 July 2018

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102113

X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4403764

Refining the phenotype of common mutations in Rett syndrome.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4403764

Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4403764

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4403764

Rett syndrome in Spain: mutation analysis and clinical correlations

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4403764

Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype–phenotype associations in Rett syndrome

26 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102113

Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24399845

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMEDGENET-2013-102113

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399845%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399845%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

PubMed publication ID

24399845

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24399845%20AND%20SRC:MED&resulttype=core&format=json