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Mutations in ATP-dependent chromatin remodeler CHD8 cause one of the most frequent monogenetic forms of autism and also associate with brain overgrowth. Nevertheless, activities of CHD8 in autism-relevant cell types are still poorly understood. Here we purify the CHD8 protein from human neural stem ...
ORGANISM(S): Homo sapiens (Human) 
2025-05-06 | PXD044582 | Pride
Genome-wide analysis of CHD8 binding sites as well as sites associated with the activating histone marks 2mk4H3 and 3mK4H3. These analyses have been performed by ChIP-chip using a custom microarray containing promoter regions and CpG islands. ChIP experiments were performed with the C33A human cervi...
ORGANISM(S): Homo sapiens 
CHD8, encoding Chromodomain helicase DNA binding protein 8, is a top autism spectrum disorders (ASDs) risk gene. To better understanding the molecular links between CHD8 functions and ASD, we have applied the CRISPR/Cas9 technology to knockout one copy of CHD8 in induced pluripotent stem cells (iPSC...
ORGANISM(S): Homo sapiens 
Disruptive mutations in the chromodomain helicase DNA binding protein 8 (CHD8) have been recurrently associated with Autism Spectrum Disorders (ASD). Here we investigated how chromatin reacts to CHD8 suppression by analyzing a panel of histone modifications in induced pluripotent stem cell-derived n...
ORGANISM(S): Homo sapiens (Human) 
2023-03-11 | PXD025739 | Pride
RNAseq data from ES and differentiated cells in Chd8 WT vs Chd8 KD and Chd8 KO cells
In this project, we have studied the role of Chd8 in Xist regulation and XCI initiation by means of Chd8 Knock-Downs (KD) and Knock-Out (KO).
ORGANISM(S): Homo sapiens (Human) Mus musculus (Mouse) 
2021-09-10 | PXD024155 | Pride
Loss-of-function mutations in the chromodomain helicase DNA-binding 8 (CHD8) gene are strongly associated with Autism Spectrum Disorders (ASD). Indeed, the reduction of CHD8 causes transcriptional, epigenetic and cellular phenotypic changes, correlated to disease that can be monitored in assessing n...
ORGANISM(S): Homo sapiens (Human) 
2025-02-24 | PXD056482 | Pride
Whole-exome sequencing studies have implicated chromatin modifiers and transcriptional regulators in autism spectrum disorder (ASD) through the identification of de novo loss of function mutations in affected individuals. Many of these genes are co-expressed in mid-fetal human cortex, suggesting ASD...
ORGANISM(S): Mus musculus 
Transcriptome analysis of CHD8 ko mice
We used cerebral organoids generated from wildtype and CHD8 +/- human ES cells to study the effects of CHD8, one of the top ASD risk genes, on early cortical development. CHD8 +/- hESC were generated using the CRISPR/Cas9 system to create a deletion within the helicase domain. Cerebral organoids wer...
ORGANISM(S): Homo sapiens 
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