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 |
CLINVAR |
Cross-sectional study of 245 girls and women with typical Rett syndrome seen between 1990 and 2004 in tertiary academic outpatient specialty clinics and who had complete MECP2 mutation analysis.
|
18337588 |
2008 |
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 |
CausalMutation
|
disease |
CLINVAR |
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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Characterization of the MeCP2R168X knockin mouse model for Rett syndrome.
|
25541993 |
2014 |
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 |
CausalMutation
|
disease |
CLINVAR |
Mutations were sought in MECP2 in 48 females with classical sporadic RTT, seven families with possible familial RTT and five sporadic females with features suggestive, but not diagnostic of RTT.
|
10767337 |
2000 |
Rett Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
We review the literature on MECP2 mutations in Rett syndrome.
|
11269512 |
2001 |
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 |
CausalMutation
|
disease |
CLINVAR |
Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.
|
10814718 |
2000 |
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 |
RGD |
The MECP2 (methyl-CpG-binding protein 2) gene has been implicated in the pathogenesis of Rett Syndrome.
|
18396005 |
2008 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Our data suggest that alterations in the affinity of MeCP2 for chromatin might contribute to the pathological effects of mutations causing Rett Syndrome.
|
17965612 |
2007 |
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 |
Biomarker
|
disease |
MGD |
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 |
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 |