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The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome.
scientific article
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scholarly article
1 reference
stated in
Europe PubMed Central
PMCID
3366707
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22670137%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 February 2020
title
The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome
(English)
1 reference
stated in
Europe PubMed Central
PMCID
3366707
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22670137%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 February 2020
author name string
M Zweier
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
3366707
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22670137%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 February 2020
A Rauch
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMCID
3366707
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22670137%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 February 2020
publication date
16 April 2012
1 reference
stated in
Europe PubMed Central
PMCID
3366707
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22670137%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 February 2020
published in
Molecular syndromology
1 reference
stated in
Europe PubMed Central
PMCID
3366707
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22670137%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 February 2020
volume
2
1 reference
stated in
Europe PubMed Central
PMCID
3366707
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22670137%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 February 2020
issue
3-5
1 reference
stated in
Europe PubMed Central
PMCID
3366707
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22670137%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 February 2020
page(s)
164-170
1 reference
stated in
Europe PubMed Central
PMCID
3366707
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22670137%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 February 2020
cites work
Fragile X mental retardation protein is required for synapse elimination by the activity-dependent transcription factor MEF2.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366707
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26 October 2017
Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366707
retrieved
26 October 2017
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366707
retrieved
26 October 2017
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients
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stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366707
retrieved
26 October 2017
Regulation of lymphoid versus myeloid fate 'choice' by the transcription factor Mef2c
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366707
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26 October 2017
Genome-wide analysis of MEF2 transcriptional program reveals synaptic target genes and neuronal activity-dependent polyadenylation site selection
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stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366707
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26 October 2017
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366707
retrieved
26 October 2017
Identifying autism loci and genes by tracing recent shared ancestry
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366707
retrieved
26 October 2017
MEF2C, a transcription factor that facilitates learning and memory by negative regulation of synapse numbers and function
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366707
retrieved
26 October 2017
Transcription factor MEF2C influences neural stem/progenitor cell differentiation and maturation in vivo
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366707
retrieved
26 October 2017
Myocyte enhancer factor 2C as a neurogenic and antiapoptotic transcription factor in murine embryonic stem cells
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366707
retrieved
26 October 2017
MeCP2, a key contributor to neurological disease, activates and represses transcription
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366707
retrieved
26 October 2017
MEF2: a central regulator of diverse developmental programs
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366707
retrieved
26 October 2017
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366707
retrieved
26 October 2017
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366707
retrieved
26 October 2017
RASA1: variable phenotype with capillary and arteriovenous malformations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366707
retrieved
26 October 2017
Functional regulatory regions of human transcription factor MEF2C
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366707
retrieved
26 October 2017
Control of mouse cardiac morphogenesis and myogenesis by transcription factor MEF2C
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366707
retrieved
26 October 2017
Phosphorylation of the MADS-Box transcription factor MEF2C enhances its DNA binding activity.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366707
retrieved
26 October 2017
MEF2C, a MADS/MEF2-family transcription factor expressed in a laminar distribution in cerebral cortex
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366707
retrieved
26 October 2017
Late-onset gain of skills and peculiar jugular pit in an 11-year-old girl with 5q14.3 microdeletion including MEF2C.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366707
retrieved
17 August 2018
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366707
retrieved
17 August 2018
Refining the phenotype associated with MEF2C haploinsufficiency.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366707
retrieved
17 August 2018
Mef2 gene expression marks the cardiac and skeletal muscle lineages during mouse embryogenesis.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366707
retrieved
17 August 2018
5q14.3 neurocutaneous syndrome: A novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366707
retrieved
1 December 2018
Interstitial deletion 5q14.3q21.3 with MEF2C haploinsufficiency and mild phenotype: when more is less
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22670137
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Expression of mef2 genes in the mouse central nervous system suggests a role in neuronal maturation
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22670137
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22670137
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22670137
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1159/000337496
1 reference
stated in
Europe PubMed Central
PMCID
3366707
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22670137%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 February 2020
PMCID
3366707
1 reference
stated in
Europe PubMed Central
PMCID
3366707
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22670137%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 February 2020
PubMed ID
22670137
1 reference
stated in
Europe PubMed Central
PMCID
3366707
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22670137%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 February 2020
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