|
Rett Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
We present evidence that MeCP2 represses gene expression by binding to methylated CA sites within long genes, and that in neurons lacking MeCP2, decreasing the expression of long genes attenuates RTT-associated cellular deficits.
|
25762136 |
2015 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
With the recent identification of MECP2 mutations in Rett syndrome it is quite likely that genetic factors not only play a major role in brain development but may also influence other organ growth including bone formation.
|
11738859 |
2001 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recently mutations in MECP2, that encodes the methyl CpG binding protein 2 (MeCP2), have been found to cause RTT.MeCP2 has a role in gene silencing.
|
12075494 |
2002 |
|
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
In Mecp2-null rats, abnormalities in breathing patterns were apparent in both decerebrate rats and awake animals, suggesting that RTT-type breathing abnormalities take place in the brainstem without forebrain input.
|
30458221 |
2019 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
No deletion were found in our group, suggesting that MECP2 gross rearrangements are a rare cause of Rett syndrome.
|
11755104 |
2002 |
|
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Further, research on Rett syndrome has revealed an unforeseen role for methyl-CpG-binding protein 2 (MeCP2) in neurons.
|
19127539 |
2009 |
|
Rett Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Apneas, which are one of the core RTT breathing deficits, were significantly decreased to WT levels in Mecp2 KO mice after AAV9-MCO administration.
|
27974239 |
2017 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The RTT missense MECP2<sup>R306C</sup> mutation prevents MeCP2 from interacting with the NCoR/histone deacetylase 3 (HDAC3) complex; however, the neuronal function of HDAC3 is incompletely understood.
|
27428650 |
2016 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Therefore, MECP2 mutations are not limited to RTT and may be implicated in a much broader phenotypic spectrum.
|
10577905 |
1999 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The high rate of paternal origin of the mutated MECP2 gene may explain the high occurrence of RTT in female gender.
|
22982301 |
2012 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Updating the profile of C-terminal MECP2 deletions in Rett syndrome.
|
19914908 |
2010 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These data demonstrate the high allelic heterogeneity of RTT in France and suggest that routine mutation screening in MECP2 should include quantitative analysis of the MECP2 gene.
|
16473305 |
2006 |
|
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Expression of EEA1 restored homeostatic synaptic plasticity in Mecp2-deficient neurons, providing novel targets of intervention in Rett syndrome.
|
28621434 |
2017 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in exon 1 and the promoter of MECP2 are not a common cause of Rett syndrome.
|
15367913 |
2005 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene coding for methyl-CpG-binding protein 2 (MECP2) cause Rett syndrome and have also been reported in a number of X-linked mental retardation diseases.
|
15814190 |
2005 |
|
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Disruption of Mecp2 in mice recapitulates major features of RTT, including neurobehavioral abnormalities, which can be reversed by re-expression of normal Mecp2.
|
28813484 |
2017 |
|
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
These subtle changes in myelinated peripheral nerve fibers in heterozygous Mecp2 knockout mice could potentially explain some RTT phenotypes.
|
28687309 |
2017 |
|
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
In conclusion, we feel that it is important to emphasize that Rett syndrome is a strictly clinical diagnosis that is not identical to the far broader concept of MECP2 deviations.
|
16225826 |
2005 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These findings firmly establish nucleosomal linker DNA as a crucial binding partner of MeCP2 and show that different RTT-causing mutations of MeCP2 are correspondingly defective in different aspects of the interactions that alter chromatin architecture.
|
17660293 |
2007 |
|
Rett Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Abnormal expression and dysfunction of methyl-CpG binding protein 2 (MeCP2) cause Rett syndrome (RTT).
|
27995568 |
2017 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Four exons and a putative promoter of the MECP2 gene were analyzed from the peripheral blood of 43 Korean patients with Rett syndrome by PCR-RFLP and direct sequencing.
|
16672765 |
2006 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in MECP2 (MIM #312750), located on Xq28 and encoding a methyl CpG binding protein, are classically associated with Rett syndrome in female patients, with a lethal effect in hemizygous males.
|
27465203 |
2016 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Using FISH, linear amplification, and array CGH, we identified a 126-kb duplicated region from 19p13.3 inserted into MECP2 at Xq28 in a patient with symptoms of Rett syndrome.
|
21383316 |
2011 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the transcriptional regulator MeCP2.
|
29090078 |
2017 |
|
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
With her clinical-history, Rett syndrome was suspected and genetic testing with mutation in MECP2 confirmed the diagnosis.
|
27296050 |
2016 |