Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Rett syndrome (RTT) is a progressive neurodevelopmental disorder mainly caused by mutations in the X-linked MECP2 gene.
|
31606551 |
2020 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Methyl-CpG-binding protein 2 (MeCP2) mutations are the primary cause of Rett syndrome, a severe neurodevelopmental disorder.
|
31038696 |
2020 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Male cases with MECP2 variants have been considered inviable, but somatic mosaicism of the variants can cause RTT in males.
|
31816669 |
2020 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We analyzed the molecular genetic variants in the gene encoding the methyl-CpG binding protein 2 (MECP2) of 16 girls with RTT.
|
31535341 |
2020 |
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Systematically review the abnormalities in event related potential (ERP) recorded in Rett Syndrome (RTT) patients and animals in search of translational biomarkers of deficits related to the particular neurophysiological processes of known genetic origin (MECP2 mutations).
|
31812082 |
2020 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our study sheds light on the relevance of the protein-regulation of main physiological process in the complex mechanisms leading from Mecp2 mutation to the RTT clinical phenotype.
|
31629059 |
2020 |
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutations in the methyl-DNA-binding repressor protein MeCP2 cause the devastating neurodevelopmental disorder Rett syndrome.
|
31784358 |
2020 |
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 |
Age, methyl-CpG binding protein 2 gene (MECP2) mutation, RTT Severity Scale (RSSS) score, breathing abnormalities, seizure frequency, medications, and ECG parameters were collected.
|
31797351 |
2019 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cross-sectional and longitudinal data were collected from 861 females with RTT and from 48 females who have MECP2 mutations without meeting criteria for RTT.
|
30217666 |
2019 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Rett syndrome (RTT) is one of the most common causes of intellectual and developmental disabilities in girls, and is caused by mutations in the gene encoding methyl-CpG binding protein 2 (MECP2).
|
31542590 |
2019 |
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here, we review the experimental evidence demonstrating that alterations in the levels and functionality of the methylated DNA-binding transcriptional regulator MeCP2 are implicated in the learning and memory deficits present in mouse models of Rett syndrome and <i>MECP2</i> duplication syndrome.
|
31416907 |
2019 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Rett syndrome (RTT) is a rare neurodevelopmental disorder mainly affecting females and is caused by a mutation in the MECP2 gene.
|
31074665 |
2019 |
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
It has been the subject of extensive study because of its link with 'MECP2-related disorders', of which Rett syndrome is the most prevalent.
|
31629770 |
2019 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that is caused by mutations in the MECP2 gene; however, defects in other genes (CDKL5 and FOXG1) can lead to presentations that resemble classic RTT, although they are not completely identical.
|
31105003 |
2019 |
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Although the alterations seen in mouse models of RTT appear to be primarily due to cell-autonomous effects, there are also non-cell autonomous mechanisms including those caused by MeCP2-deficient glia that negatively impact healthy neuronal function.
|
30502397 |
2019 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic mutations of the Methyl-CpG-binding protein-2 (MECP2) gene underlie Rett syndrome (RTT).
|
31239460 |
2019 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Rett syndrome (RTT) is a pervasive developmental disorder caused by mutations in MECP2.
|
30789962 |
2019 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Methyl-CpG-Binding protein 2 (MECP2), located on Xq28 and encoding a methyl CpG binding protein, are commonly related to Rett syndrome.
|
31647993 |
2019 |
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
In this study, female heterozygous Mecp2-null mice (Mecp2+/- mice), a model of RTT, were fed a normal chow diet or high-fat diet (HFD), and the changes in molecular signaling pathways were investigated.
|
30608967 |
2019 |
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
We show that this approach can be used to introduce PTMs and biochemical probes into a range of proteins including Cas9 nuclease and the transcriptional regulator MeCP2, which causes Rett syndrome when mutated.
|
31263208 |
2019 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements.
|
30417326 |
2019 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Rett syndrome (RTT) is a severe neurodevelopmental disorder that is associated in most cases with mutations in the transcriptional regulator MECP2.
|
31704481 |
2019 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
MeCP2 is an X-linked gene; its mutation causes Rett Syndrome (RTT), a severe neurodevelopmental disability that affects mainly girls.
|
31214863 |
2019 |
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mouse models of MeCP2 dysfunction that have been developed are thus important not only for examining the protein's contribution to RTT, but also for elucidating the etiologies of other MECP2-associated neuropsychiatric disorders.
|
31273723 |
2019 |