|
Autism Spectrum Disorders
|
0.800 |
Biomarker
|
disease |
MGD |
|
|
|
|
Autism Spectrum Disorders
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-β-catenin signaling pathway.
|
22083958 |
2012 |
|
Autism Spectrum Disorders
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
|
22495309 |
2012 |
|
Autism Spectrum Disorders
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our data support associations between specific genes and reciprocal subphenotypes (CHD8-macrocephaly and DYRK1A-microcephaly) and replicate the importance of a β-catenin-chromatin-remodeling network to ASD etiology.
|
23160955 |
2012 |
|
Autism Spectrum Disorders
|
0.800 |
Biomarker
|
disease |
BEFREE |
Because identification of novel CHD7 and CHD8 interacting partners will provide further insights into the pathogenesis of CHARGE syndrome and ASD/NDD, we searched for additional associated polypeptides using the method of stable isotope labeling by amino acids in cell culture (SILAC) in combination with mass spectrometry.
|
23285124 |
2012 |
|
Autism Spectrum Disorders
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The most interesting genes included in this deletion are CHD8, a chromodomain helicase DNA binding protein that is associated with autism spectrum disorders, and MMP14, a matrix metalloproteinase that has been linked to obesity and type 2 diabetes.
|
24243641 |
2014 |
|
Autism Spectrum Disorders
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Our findings indicate that CHD8 disruptions define a distinct ASD subtype and reveal unexpected comorbidities between brain development and enteric innervation.
|
24998929 |
2014 |
|
Autism Spectrum Disorders
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our findings indicate that CHD8 disruptions define a distinct ASD subtype and reveal unexpected comorbidities between brain development and enteric innervation.
|
24998929 |
2014 |
|
Autism Spectrum Disorders
|
0.800 |
Biomarker
|
disease |
CTD_human |
Our findings indicate that CHD8 disruptions define a distinct ASD subtype and reveal unexpected comorbidities between brain development and enteric innervation.
|
24998929 |
2014 |
|
Autism Spectrum Disorders
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Notably, recent studies also disclosed CHD8 heterozygous loss-of-function mutations in patients with ASD and macrocephaly.
|
25257502 |
2014 |
|
Autism Spectrum Disorders
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genes associated with ASD were strongly enriched among indirectly down-regulated loci (P < 10(-8)) and CHD8-bound genes (P = 0.0043), which align with previously identified coexpression modules during fetal development.
|
25294932 |
2014 |
|
Autism Spectrum Disorders
|
0.800 |
Biomarker
|
disease |
BEFREE |
These results suggest loss of CHD8 contributes to ASD by perturbing an ancient gene regulatory network during human brain development.
|
25752243 |
2015 |
|
Autism Spectrum Disorders
|
0.800 |
Biomarker
|
disease |
BEFREE |
These results suggest that CHD8 insufficiency may be a central hub in neuronal development and ASD risk.
|
25989142 |
2015 |
|
Autism Spectrum Disorders
|
0.800 |
Biomarker
|
disease |
BEFREE |
Finally, analyses of the CHD8 subnetwork and altered transcript levels from an independent study of CHD8 suppression further confirmed the central role of genes regulating neurogenesis and cell adhesion processes in ASD brain maldevelopment.
|
26668231 |
2015 |
|
Autism Spectrum Disorders
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations in chromodomain helicase DNA-binding domain 8 (CHD8) have been identified in independent genotyping studies of autism spectrum disorder.
|
26789910 |
2016 |
|
Autism Spectrum Disorders
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Mutations in chromodomain helicase DNA-binding domain 8 (CHD8) have been identified in independent genotyping studies of autism spectrum disorder.
|
26789910 |
2016 |
|
Autism Spectrum Disorders
|
0.800 |
Biomarker
|
disease |
BEFREE |
Recently, disruptive CHD8 mutations were described in patients with similar phenotypes further showing pivotal role of CHD8 gene in the pathogenesis of DD/ID or ASDs.
|
26834018 |
2016 |
|
Autism Spectrum Disorders
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our clinical case supports the hypothesis that CHD8 may play a central role in neuronal cell development and ASD risk.
|
26921529 |
2016 |
|
Autism Spectrum Disorders
|
0.800 |
Biomarker
|
disease |
CLINGEN |
REST activation was also observed in the brains of humans with ASD, and CHD8 was found to interact physically with REST in the mouse brain.
|
27602517 |
2016 |
|
Autism Spectrum Disorders
|
0.800 |
Biomarker
|
disease |
CLINGEN |
De novo genic mutations among a Chinese autism spectrum disorder cohort.
|
27824329 |
2016 |
|
Autism Spectrum Disorders
|
0.800 |
Biomarker
|
disease |
CTD_human |
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
|
28191889 |
2017 |
|
Autism Spectrum Disorders
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
<i>CHD8</i> (chromodomain helicase DNA-binding protein 8), which codes for a member of the CHD family of ATP-dependent chromatin-remodeling factors, is one of the most commonly mutated genes in autism spectrum disorders (ASD) identified in exome-sequencing studies.
|
28321286 |
2017 |
|
Autism Spectrum Disorders
|
0.800 |
Biomarker
|
disease |
BEFREE |
Transcriptional and translational programs that are downstream targets of highly ASD-penetrant FMR1 and CHD8 genes are also heavily affected by MIA.
|
28322282 |
2018 |
|
Autism Spectrum Disorders
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We generated germline mutant mice with loss-of-function mutations in Chd8, a de novo mutation strongly associated with ASD, and demonstrate that these mice display hallmark ASD behaviors, macrocephaly, and craniofacial abnormalities similar to patient phenotypes.
|
28402856 |
2017 |
|
Autism Spectrum Disorders
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We sequenced 136 microcephaly or macrocephaly (Mic-Mac)-related genes and 158 possible ASD-risk genes in 536 Chinese ASD probands and detected 22 damaging de novo mutations (DNMs) in 20 genes, including CHD8 and SCN2A, with recurrent events.
|
28831199 |
2017 |