Neurodevelopmental Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
Mutations in the methyl-DNA-binding repressor protein MeCP2 cause the devastating neurodevelopmental disorder Rett syndrome.
|
31784358 |
2020 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Methyl-CpG-binding protein 2 (MeCP2) mutations are the primary cause of Rett syndrome, a severe neurodevelopmental disorder.
|
31038696 |
2020 |
Neurodevelopmental Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
We compared the protein cargo and signaling bioactivity of exosomes released by hiPSC-derived neural cultures lacking MECP2, a model of the neurodevelopmental disorder Rett syndrome, with exosomes released by isogenic rescue control neural cultures.
|
31320591 |
2019 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
With the recent 50th anniversary of the first publication on Rett syndrome, and the almost 20 years since the first report on the link between Rett syndrome and MECP2 mutations, it is important to reflect on the tremendous advances in our understanding and their implications for the diagnosis and treatment of this neurodevelopmental disorder.
|
30649225 |
2019 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Mutations in the X-linked gene MECP2 are associated with a severe neurodevelopmental disorder, Rett syndrome (RTT), primarily in girls.
|
30536762 |
2019 |
Neurodevelopmental Disorders
|
0.400 |
Biomarker
|
group |
BEFREE |
Interplay of LIS1 and MeCP2: Interactions and Implications With the Neurodevelopmental Disorders Lissencephaly and Rett Syndrome.
|
31474834 |
2019 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutation in the X-linked MECP2 gene.
|
31299345 |
2019 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
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 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Rett syndrome (RTT) is a rare neurodevelopmental disorder mainly affecting females and is caused by a mutation in the MECP2 gene.
|
31074665 |
2019 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Accordingly, MeCP2 loss- or gain-of-function mutation causes neurodevelopmental disorders, including Rett syndrome (RTT), <i>MECP2</i> duplication syndrome (MDS), and autism spectrum disorders (ASD).
|
31013990 |
2019 |
Neurodevelopmental Disorders
|
0.400 |
AlteredExpression
|
group |
BEFREE |
Remarkably, abnormal levels of MeCP2 have been associated to other neurodevelopmental disorders, as well as neuropsychiatric disorders.
|
31333414 |
2019 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Rett syndrome (RTT) is a monogenic neurodevelopmental disorder caused by mutations in the methyl-CpG binding protein 2 (MECP2) gene.
|
30430747 |
2019 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
© 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Altered expressions of the methyl-CpG-binding protein 2 (MECP2) gene are usually associated with neurodevelopmental disorders, such as autism spectrum disorders, Rett syndrome (RTT), and so forth.
|
31389199 |
2019 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Rett syndrome is a complex neurodevelopmental disorder that is mainly caused by mutations in MECP2.
|
30539330 |
2019 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Rett syndrome (RTT) is a postnatal neurodevelopmental disorder that primarily affects girls, with 95% of RTT cases resulting from mutations in the methyl-CpG-binding protein 2 (MECP2) gene.
|
30220058 |
2019 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the Methyl CpG binding protein 2 (MeCP2) gene.
|
30905360 |
2019 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Rett Syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the Methyl CpG binding protein 2 (MECP2) gene.
|
31796123 |
2019 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Rett syndrome (RTT) is a severe neurodevelopmental disorder that is associated in most cases with mutations in the transcriptional regulator MECP2.
|
31704481 |
2019 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Rett syndrome is a neurodevelopmental disorder caused by a mutation in the X-linked MECP2 gene.
|
31362710 |
2019 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Rett syndrome (RTT) is a neurodevelopmental disorder with a genetic basis that is associated with the mutation of the X-linked methyl-CpG binding protein 2 (MECP2) gene in approximately 90% of patients.
|
31450876 |
2019 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
One such gene is methyl-CpG-binding protein 2 (MECP2), which has been most prominently associated with the neurodevelopmental disorder Rett syndrome, as well as major neuropsychiatric disorders such as autism and schizophrenia.
|
31273722 |
2019 |
Neurodevelopmental Disorders
|
0.400 |
Biomarker
|
group |
CTD_human |
De novo variants in neurodevelopmental disorders with epilepsy.
|
29942082 |
2018 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The purpose of this study was to evaluate the frequency of mosaicism detected by next-generation sequencing in genes associated with epilepsy-related neurodevelopmental disorders.MethodsWe conducted a retrospective analysis of 893 probands with epilepsy who had a multigene epilepsy panel or whole-exome sequencing performed in a clinical diagnostic laboratory and were positive for a pathogenic or likely pathogenic variant in one of nine genes (CDKL5, GABRA1, GABRG2, GRIN2B, KCNQ2, MECP2, PCDH19, SCN1A, or SCN2A).
|
28837158 |
2018 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Rett syndrome (RTT) is a neurodevelopmental disorder primarily caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene, resulting in developmental regression after normal development during infancy.
|
30227938 |
2018 |
Neurodevelopmental Disorders
|
0.400 |
GeneticVariation
|
group |
BEFREE |
MECP2 is a critical gene for neural development, mutations or duplication of which led to severe neurodevelopmental disorders, such as Rett syndrome (RTT) and autism spectrum disorders (ASD).
|
28961504 |
2018 |