(Q30661397)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424712%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

title

Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424712%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1 reference

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424712%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

author name string

Sarah L Williamson

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424712%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Carolyn J Ellaway

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424712%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Greg B Peters

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424712%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Gregory J Pelka

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424712%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Patrick P L Tam

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424712%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

publication date

26 November 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424712%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

23 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424712%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

volume

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424712%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424712%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

page(s)

1171-1175

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424712%20AND%20SRC:MED&resulttype=core&format=json

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

23 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538211

Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538211

The role of MeCP2 in the brain.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538211

Complexities of Rett syndrome and MeCP2

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538211

D-serine regulates cerebellar LTD and motor coordination through the δ2 glutamate receptor.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538211

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538211

Rett syndrome: revised diagnostic criteria and nomenclature

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538211

Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538211

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538211

Key clinical features to identify girls with CDKL5 mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538211

Analyzing real-time PCR data by the comparative C(T) method

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538211

The MeCP2-null mouse hippocampus displays altered basal inhibitory rhythms and is prone to hyperexcitability.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538211

Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538211

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538211

Mecp2 deficiency is associated with learning and cognitive deficits and altered gene activity in the hippocampal region of mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538211

Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538211

Hippocampal synaptic plasticity is impaired in the Mecp2-null mouse model of Rett syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538211

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538211

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538211

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538211

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538211

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538211

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538211

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538211

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538211

The protein-tyrosine phosphatase PTPMEG interacts with glutamate receptor delta 2 and epsilon subunits.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538211

A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain.

20 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.249

Involvement of protein-tyrosine phosphatase PTPMEG in motor learning and cerebellar long-term depression

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.249

Ptpmeg is required for the proper establishment and maintenance of axon projections in the central brain of Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.249

Family based association of GRIN2A and GRIN2B with Korean autism spectrum disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.249

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.249

Early environmental enrichment moderates the behavioral and synaptic phenotype of MeCP2 null mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.249

[FOXG1, a new gene responsible for the congenital form of Rett syndrome]

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25424712

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25424712

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical delineation of Rett syndrome variants

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25424712

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2014.249

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424712%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424712%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

PubMed publication ID

25424712

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424712%20AND%20SRC:MED&resulttype=core&format=json