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 |
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 |
To characterize the spectrum of mutations in the MECP2 gene in RTT patients, we selected 46 typical RTT patients and performed mutation screening by denaturing gradient gel electrophoresis combined with direct sequencing.
|
10814719 |
2000 |
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 |
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Mutations in MeCP2, which encodes a protein that has been proposed to function as a global transcriptional repressor, are the cause of Rett syndrome (RT T), an X-linked progressive neurological disorder.
|
14593183 |
2003 |
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 |
Seizures in Rett syndrome: an overview from a one-year calendar study.
|
17433737 |
2007 |
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 |
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 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the MECP2 (Methyl-CpG-binding protein) gene recently have been reported to cause Rett syndrome (RTT), an X-linked dominant neurodevelopmental disease.
|
11241840 |
2001 |
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 |
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 |
RTT is usually associated with normal development in infancy followed by loss of acquired skills and evolution of characteristic hand wringing movements and episodes of hyperventilation.A panel of 25 female and 22 male patients with a clinical diagnosis of AS and no molecular abnormality of 15q11-13 were screened for MECP2 mutations and these were identified in four females and one male.
|
11283202 |
2001 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We review the literature on MECP2 mutations in Rett syndrome.
|
11269512 |
2001 |
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 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the MECP2 gene in a cohort of girls with Rett syndrome.
|
10991689 |
2000 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
|
10508514 |
1999 |
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 |
Biomarker
|
disease |
CTD_human |
MeCP2-deficient mice recapitulate the neurological degeneration observed in RTT patients.
|
22532851 |
2012 |
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 |
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 |
GeneticVariation
|
disease |
UNIPROT |
The novel disease alleles and benign variants of the MECP2 gene found in this study should contribute to the establishment of a reliable diagnosis of Rett syndrome.
|
10944854 |
2000 |
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 |
CTD_human |
Together, these data support a role of dysregulation of an activity-dependent EGR2/MeCP2 pathway in RTT and autism.
|
19000991 |
2009 |