|
Autism Spectrum Disorders
|
0.800 |
Biomarker
|
disease |
MGD |
|
|
|
|
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 |
GeneticVariation
|
disease |
BEFREE |
Chromodomain helicase DNA binding protein 8 (<i>CHD8</i>) encodes a chromatin remodeling factor with among the highest <i>de novo</i> loss-of-function mutation rates in patients with autism spectrum disorder (ASD).
|
30692911 |
2018 |
|
Autism Spectrum Disorders
|
0.800 |
Biomarker
|
disease |
CTD_human |
A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8.
|
30670789 |
2019 |
|
Autism Spectrum Disorders
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
As demonstrated in our patients, along with other previously reported studies support that disruption of the CHD8 gene represents a specific genetic sub-type of ASD.
|
30376831 |
2018 |
|
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 |
Biomarker
|
disease |
CLINGEN |
De novo genic mutations among a Chinese autism spectrum disorder cohort.
|
27824329 |
2016 |
|
Autism Spectrum Disorders
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Disruptive mutations in chromatin remodeler CHD8 cause autism spectrum disorders, exhibiting widespread white matter abnormalities; however, the underlying mechanisms remain elusive.
|
29920279 |
2018 |
|
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 |
Finally, CHD7 and CHD8 bind in OPCs to a majority of ASD risk-associated genes, suggesting an implication of oligodendrocyte lineage cells in ASD neurological defects.
|
30108144 |
2018 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Genome-wide DNA methylation (DNAm) was assessed using the Illumina Infinium HumanMethylation450 and MethylationEPIC arrays in blood from individuals with ASD of heterogeneous, undefined etiology (n = 52), and individuals with 16p11.2 deletions (16p11.2del, n = 9) or pathogenic variants in the chromatin modifier CHD8 (CHD8<sup>+/-</sup>, n = 7).
|
31311581 |
2019 |
|
Autism Spectrum Disorders
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in CHD8 give rise to ASD that is often accompanied by macrocephaly, gastrointestinal complaints, and slender habitus.
|
29768199 |
2018 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Like chromodomain helicase DNA binding protein 8 (CHD8), the most frequently mutated gene in individuals with ASD, the candidate gene <i>AT-rich interaction domain 1B</i> (<i>ARID1B</i>) encodes a chromatin remodeling factor.
|
28867767 |
2017 |
|
Autism Spectrum Disorders
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Loss of function alleles of human chd8 are correlated with autism spectrum disorder.
|
29079199 |
2018 |
|
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 |
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 |
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 |
BEFREE |
Our data suggest that CHD8 haploinsufficiency represents a specific subtype of ASD where neuropsychiatric symptoms are underpinned by long-range over-connectivity.
|
29668850 |
2018 |
|
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 |
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 |