Rett Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Modelling RTT in vitro by knocking down the expression of the MeCP2 protein with shRNA, we found that choline supplementation to MeCP2-knockdown neurons increased their soma sizes and the complexity of their dendritic arbors.
|
30220058 |
2019 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the Methyl CpG binding protein 2 (MeCP2) gene.
|
30905360 |
2019 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the methyl CpG binding protein 2 (<i>MECP2</i>) gene.
|
31366578 |
2019 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Typical RTT is caused by de novo mutations of the gene MECP2 (OMIM*300005), and atypical forms of RTT can be caused by mutations of the CDKL5 (OMIM*300203) and FOXG1 (OMIM*164874) genes.
|
31206249 |
2019 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The reclassification of variants (such as VUS) in MECP2 gene associated with RETT syndrome suggest that the combinatory in-silico predictor approach had a higher success rate in categorizing their pathogenicity.
|
31799076 |
2019 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Alterations in sequence or copy number of the X-linked human MECP2 gene cause either Rett syndrome (RTT) or MECP2 duplication syndrome.
|
29698767 |
2019 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations affecting MeCP2 are the primary cause of Rett syndrome (RTT), a severe neurological disorder that is thought to result from absence of functional protein in the brain.
|
31138832 |
2019 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Rett Syndrome (RTT) is a neurological disorder mainly associated with mutations in the X-linked gene coding for the methyl-CpG binding protein 2 (MECP2).
|
31229631 |
2019 |
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The X-linked gene MECP2, associated to several neurodevelopmental disorders such as Rett syndrome, encodes the protein methyl-CpG-binding protein 2 (MeCP2), a regulatory protein that has been implicated in neuronal maturation and refinement of olfactory circuits.
|
30923887 |
2019 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutation in the X-linked MECP2 gene.
|
31299345 |
2019 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations or deletions in Methyl-CpG-binding Protein 2 (MeCP2), a brain-enriched transcriptional regulator.
|
30277526 |
2019 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, I review the evidence linking MeCP2 deficiency to alterations in neurotransmission and neural circuits that govern the psychomotor function and discuss a recently identified pathological origin underlying the psychomotor deficits in RTT.
|
30430747 |
2019 |
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Herein, we dissect the role of impaired MECP2 function in triggering senescence along with other senescence-related aspects, such as metabolism, in MSCs from a mouse model of RTT.
|
31117273 |
2019 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this chapter, we will briefly review the functions of the MeCP2 protein and how its mutations are implicated in Rett syndrome and other neuropsychiatric disorders.
|
31273722 |
2019 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Rett syndrome (RTT) is a childhood neurodevelopmental disorder caused by mutations in MECP2.
|
31450191 |
2019 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Rett syndrome (RTT) is a severe neurodevelopmental disorder caused by mutations in the X-linked gene MECP2 (methyl-CpG-binding protein 2).
|
31291284 |
2019 |
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
In summary, we provide a new strategy for MECP2 gene targeting that can be potentially translated into gene therapy or for iPSCs-based disease modeling of RTT syndrome.
|
31333716 |
2019 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our findings, as well as literature findings, suggest that early brain abnormalities associated with RTT/RTT-l (with MECP2 mutations) can be detected as regionally decreased cerebellar volumes.
|
30690146 |
2019 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
By demonstrating that different MECP2 mutations can produce concordant neurological phenotypes but discordant molecular features, we highlight the importance of considering personalized approaches for the treatment of Rett syndrome.
|
30402709 |
2019 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Rett syndrome (RTT), a neurodevelopmental disorder, is mainly caused by mutations in methyl CpG-binding protein 2 (<i>MECP2</i>), which has multiple functions such as binding to methylated DNA or interacting with a transcriptional co-repressor complex.
|
31717404 |
2019 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The questionnaire was completed by 271 parents whose daughters met the clinical criteria for RTT and/or had MECP2 mutations and participated in the Natural History of Rett Syndrome Study.
|
30664568 |
2019 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the MECP2 gene are the main cause of Rett syndrome (RTT), a pervasive neurodevelopmental disorder, that shows also multisystem disturbances associated with a metabolic component.
|
30743046 |
2019 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two males with a somatic mutation in MECP2 had classic RTT.
|
30536762 |
2019 |
Rett Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Despite being a monogenic disorder, the pathogenic mechanisms by which mutations in MeCP2 impair neuronal function and underlie the RTT symptoms have been challenging to elucidate.
|
30447288 |
2019 |
Rett Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Research aimed at the underlying pathophysiological mechanisms of RTT and MDS has significantly advanced our understanding of MeCP2 functions in the nervous system.
|
31527487 |
2019 |