×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
Biomarker
GENOMICS_ENGLAND
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.
29618507
2018
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
Biomarker
CTD_human
Persistent Unresolved Inflammation in the Mecp2 -308 Female Mutated Mouse Model of Rett Syndrome.
28592917
2017
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
GeneticVariation
UNIPROT
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
27864847
2017
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
GeneticVariation
UNIPROT
Strikingly, the four MeCP2 -NID residues mutated in RTT are those residues that make the most extensive contacts with TBLR1.
28348241
2017
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
Biomarker
CTD_human
Mutations in the gene encoding the methyl-CG binding protein MeCP2 cause several neurological disorders including Rett syndrome .
28498846
2017
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
GeneticVariation
UNIPROT
The therapeutic implication of a novel SCN2A mutation associated early-onset epileptic encephalopathy with Rett-like features.
28709814
2017
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
GeneticVariation
UNIPROT
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
26993267
2016
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
Biomarker
CTD_human
Therefore, the elevated PTP1B that accompanies disruption of MECP2 function in RTT represents a barrier to BDNF signaling.
26214522
2015
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
GeneticVariation
UNIPROT
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
25818041
2015
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
Biomarker
CTD_human
A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome .
23892605
2013
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
GeneticVariation
UNIPROT
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
23662938
2013
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
Biomarker
CTD_human
Rett syndrome is an X-linked ASD caused by mutations in the epigenetic factor methyl-CpG binding protein 2 (MECP2 ).
22343140
2012
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
Biomarker
CTD_human
MeCP2 -deficient mice recapitulate the neurological degeneration observed in RTT patients.
22532851
2012
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
Biomarker
CLINGEN
We show by using an inducible model of RTT that deletion of Mecp2 in adult mice recapitulates the germline knock-out phenotype, underscoring the ongoing role of MeCP2 in adult neurological function.
21636743
2011
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
Biomarker
CTD_human
These include the identification of many MeCP2 target genes, better understanding of the neurobiological consequences of the loss- or mis-function of MeCP2 , and drug testing in RTT mice and clinical trials in human RTT patients.
21966470
2011
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
Biomarker
CTD_human
RTT is caused by loss of function mutations in the gene that encodes methyl-CpG-binding protein 2 (Mecp2 ) (Amir et al., 1999), a transcriptional repressor that targets genes essential for neuronal survival, dendritic growth, synaptogenesis, and activity dependent plasticity.
21316312
2011
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
Biomarker
CTD_human
Misregulation of the methyl-CpG-binding protein 2 (MECP2 ) gene has been found to cause a myriad of neurological disorders including autism, mental retardation, seizures, learning disabilities, and Rett syndrome .
19921286
2010
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
Biomarker
CTD_human
The MECP2 gene mutations cause Rett syndrome (RTT ) (OMIM: 312750), an X-linked dominant disorder primarily affecting girls.
20098342
2010
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
Biomarker
CTD_human
Rett Syndrome (RTT ) is caused in more than 60% of cases by nonsense mutations in the MECP2 gene.
19190538
2009
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
Biomarker
CTD_human
A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism.
19559301
2009
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
Biomarker
CTD_human
Together, these data support a role of dysregulation of an activity-dependent EGR2/MeCP2 pathway in RTT and autism.
19000991
2009
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
Biomarker
CTD_human
Seizures in Rett syndrome: an overview from a one-year calendar study.
17433737
2007
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
GeneticVariation
UNIPROT
Point mutations within the methylated DNA-binding domain of MeCP2 that cause Rett syndrome or X-linked mental retardation inhibit its interaction with ATRX in vitro and its localization in vivo without affecting methyl-CpG binding.
17296936
2007
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
Biomarker
CLINGEN
Rett syndrome is an autism spectrum disorder caused by mosaic expression of mutant copies of the X-linked MECP2 gene in neurons.
17289941
2007
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
Rett Syndrome
1.000
Biomarker
CTD_human
Mutations within the MeCP2 gene have been found to cause Rett syndrome , a disorder of arrested neuronal development.
16670375
2006