|
Autism Spectrum Disorders
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
An ASD "comorbidity" can have several fundamentally-distinct causal origins: it can arise due to shared genetic risk between ASD and non-ASD phenotypes (e.g., ASD and microcephaly in the context of the MECP2 mutation), as a "secondary symptom" of ASD when engendered by the same causal influence (e.g., epilepsy in channelopathies associated with ASD), due to chance co-occurrence of ASD with a causally-independent liability (e.g., ASD and diabetes), or as the late manifestation of an independent causal influence on ASD (eg, attention-deficit/hyperactivity disorder).
|
31344460 |
2020 |
|
Autism Spectrum Disorders
|
0.100 |
GeneticVariation
|
disease |
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 |
|
Autism Spectrum Disorders
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, three rare missense mutations (H371R, E394K, and G428S) in MECP2, which we identified in a Han Chinese autism spectrum disorders (ASD) cohort showed loss-of-function effects in NPC differentiation assay.
|
30560934 |
2019 |
|
Autism Spectrum Disorders
|
0.100 |
Biomarker
|
disease |
BEFREE |
ConvNetACh then successfully detected impairments in all ASD mouse models tested except in MeCP2-rescued mice.
|
31332003 |
2019 |
|
Autism Spectrum Disorders
|
0.100 |
GeneticVariation
|
disease |
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 |
|
Autism Spectrum Disorders
|
0.100 |
Biomarker
|
disease |
BEFREE |
Next, we demonstrated that behavioral changes induced by striatal inhibition of MeCP2 and TSC1 were rescued by D-cycloserine (an NMDA agonist), fenobam (an mGluR5 antagonist), SCH23390 (a D1 antagonist), and/or ecopipam (a D1 partial antagonist), pharmacological drugs that are known to regulate ASD-like symptoms in animal models.
|
30636904 |
2018 |
|
Autism Spectrum Disorders
|
0.100 |
Biomarker
|
disease |
BEFREE |
Taken together, our data support a novel miRNA-mediated pathway downstream of MeCP2 that influences neurogenesis via interactions with central molecular hubs linked to autism spectrum disorders.
|
28439102 |
2018 |
|
Autism Spectrum Disorders
|
0.100 |
Biomarker
|
disease |
BEFREE |
Genetic testing of children with autism spectrum disorder (ASD) is now standard in the clinical setting, with American College of Medical Genetics and Genomics (ACMGG) guidelines recommending microarray for all children, fragile X testing for boys and additional gene sequencing, including PTEN and MECP2, in appropriate patients.
|
29271092 |
2018 |
|
Autism Spectrum Disorders
|
0.100 |
GeneticVariation
|
disease |
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 |
|
Autism Spectrum Disorders
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We hypothesized that early-life seizures overactivate these channels, in turn dysregulating Ca<sup>2+</sup>-dependent signaling pathways including that of methyl CPG binding protein 2 (MeCP2), a transcription factor implicated in the autism spectrum disorder (ASD) Rett Syndrome.
|
29738885 |
2018 |
|
Autism Spectrum Disorders
|
0.100 |
Biomarker
|
disease |
BEFREE |
MECP2 is the causative gene for autism spectrum disorders, including Rett syndrome, a regressive neurodevelopmental rare disease mainly occurring in girls.
|
29074463 |
2018 |
|
Autism Spectrum Disorders
|
0.100 |
Biomarker
|
disease |
BEFREE |
The premise of the hypothesis is challenged, however, with the recognition that MeCP2, a "reader" of DNA methylation sites, is not only associated with age-dependent alteration in ERβ in females but is also significantly reduced in ASD brain.
|
28673581 |
2017 |
|
Autism Spectrum Disorders
|
0.100 |
Biomarker
|
disease |
BEFREE |
We have previously shown that both mRNAs are reduced in the cerebella (CB) of ASD subjects through a mechanism that involves increases in the amounts of MECP2 binding to the corresponding promoters.
|
28229923 |
2017 |
|
Autism Spectrum Disorders
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Duplications of MECP2-containing genomic segments cause the MECP2 duplication syndrome, which shares core symptoms with autism spectrum disorders.
|
26808898 |
2016 |
|
Autism Spectrum Disorders
|
0.100 |
Biomarker
|
disease |
BEFREE |
The hyperplasticity undergirding this protection may include limited noradrenergic discharge from locus coeruleus through MeCP2 deficiency (an emerging biomarker in ASD) and a heightened kappa-opioid receptor (KOR) system.
|
27241247 |
2016 |
|
Autism Spectrum Disorders
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Increasing evidence points to a complex interplay between genes and the environment in autism spectrum disorder (ASD), including rare de novo mutations in chromatin genes such as methyl-CpG binding protein 2 (MECP2) in Rett syndrome.
|
27150399 |
2016 |
|
Autism Spectrum Disorders
|
0.100 |
Biomarker
|
disease |
BEFREE |
Here we identified dominant mutations in the gene encoding the transcriptional repressor and MeCP2 interactor switch-insensitive 3 family member A (SIN3A; chromosome 15q24.2) in individuals who, in addition to mild intellectual disability and ASD, share striking features, including facial dysmorphisms, microcephaly and short stature.
|
27399968 |
2016 |
|
Autism Spectrum Disorders
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Rett syndrome (RTT) is an autism spectrum disorder (ASD) caused by mutations in the X-linked MECP2 gene that encodes methyl-CpG binding protein 2 (MeCP2).
|
25299635 |
2014 |
|
Autism Spectrum Disorders
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MECP2 mutations or altered expression are also associated with a spectrum of neurodevelopmental disorders such as autism spectrum disorders with recent links to fetal alcohol spectrum disorders.
|
24615633 |
2014 |
|
Autism Spectrum Disorders
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
These data are consistent with the hypothesis that an increase of 5-hmC (relative to 5-mC) at specific gene domains enhances the binding of MeCP2 to 5-hmC and reduces expression of the corresponding target genes in ASD cerebella.
|
24448211 |
2014 |
|
Autism Spectrum Disorders
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
To better characterize the relevance of MECP2 overexpression to ASD-related behaviors, we compared the core symptoms of ASD in MECP2 duplication syndrome to nonverbal mental age-matched boys with idiopathic ASD.
|
23169761 |
2013 |
|
Autism Spectrum Disorders
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Rett syndrome is an autism spectrum disorder resulting from defects in the gene encoding the methyl-CpG-binding protein 2 (MeCP2).
|
23392116 |
2013 |
|
Autism Spectrum Disorders
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MeCP2 binds to a region of the MET promoter containing the ASD-risk SNV, and displays rs1858830 genotype-specific binding in human neural progenitor cells derived from the olfactory neuroepithelium.
|
24150225 |
2013 |
|
Autism Spectrum Disorders
|
0.100 |
Biomarker
|
disease |
BEFREE |
This work further suggests a common cortical pathophysiology for RTT and ASD, and indicates that the MeCP2+/- model may be useful for preclinical development targeting specific cortical processing abnormalities in RTT with potential relevance to ASD.
|
22249109 |
2012 |
|
Autism Spectrum Disorders
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The methyl-CpG-binding domain (MBD) gene family was first linked to autism over a decade ago when Rett syndrome, which falls under the umbrella of autism spectrum disorders (ASDs), was revealed to be predominantly caused by MECP2 mutations.
|
23055267 |
2012 |