Rett Syndrome
|
1.000 |
Biomarker
|
disease |
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 |
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Persistent Unresolved Inflammation in the Mecp2-308 Female Mutated Mouse Model of Rett Syndrome.
|
28592917 |
2017 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
|
27864847 |
2017 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Strikingly, the four MeCP2-NID residues mutated in RTT are those residues that make the most extensive contacts with TBLR1.
|
28348241 |
2017 |
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Mutations in the gene encoding the methyl-CG binding protein MeCP2 cause several neurological disorders including Rett syndrome.
|
28498846 |
2017 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The therapeutic implication of a novel SCN2A mutation associated early-onset epileptic encephalopathy with Rett-like features.
|
28709814 |
2017 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
|
26993267 |
2016 |
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Therefore, the elevated PTP1B that accompanies disruption of MECP2 function in RTT represents a barrier to BDNF signaling.
|
26214522 |
2015 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome.
|
23892605 |
2013 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
|
23662938 |
2013 |
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Rett syndrome is an X-linked ASD caused by mutations in the epigenetic factor methyl-CpG binding protein 2 (MECP2).
|
22343140 |
2012 |
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
MeCP2-deficient mice recapitulate the neurological degeneration observed in RTT patients.
|
22532851 |
2012 |
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
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 |
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
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 |
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
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 |
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
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 |
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
The MECP2 gene mutations cause Rett syndrome (RTT) (OMIM: 312750), an X-linked dominant disorder primarily affecting girls.
|
20098342 |
2010 |
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Rett Syndrome (RTT) is caused in more than 60% of cases by nonsense mutations in the MECP2 gene.
|
19190538 |
2009 |
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism.
|
19559301 |
2009 |
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Together, these data support a role of dysregulation of an activity-dependent EGR2/MeCP2 pathway in RTT and autism.
|
19000991 |
2009 |
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Seizures in Rett syndrome: an overview from a one-year calendar study.
|
17433737 |
2007 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
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 |
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
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 |
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Mutations within the MeCP2 gene have been found to cause Rett syndrome, a disorder of arrested neuronal development.
|
16670375 |
2006 |