2024年12月24日 · CHD8 (Chromodomain Helicase DNA Binding Protein 8) is a Protein Coding gene. Diseases associated with CHD8 include Intellectual Developmental Disorder With Autism And Macrocephaly and Autism Spectrum Disorder. Among its related pathways are ncRNAs involved in Wnt signaling in hepatocellular carcinoma and Signaling by WNT.

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Chromodomain-helicase-DNA-binding protein 8 is an enzyme that in humans is encoded by the CHD8 gene. [5][6] The gene CHD8 encodes the protein chromodomain helicase DNA binding protein 8, [7] which is a chromatin regulator enzyme that is essential during fetal development. [8] . CHD8 is an ATP dependent enzyme. [9]

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2022年10月27日 · CHD8 -related neurodevelopmental disorder with overgrowth (CHD8 -NDD) is characterized by generalized overgrowth, developmental delay / intellectual disability (DD/ID), autism spectrum disorder (ASD), neuropsychiatric issues, neurologic problems, sleep disturbance, and gastrointestinal issues The most common findings are the development of macro...

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors.

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2023年3月7日 · Mutations in the gene encoding chromodomain helicase DNA-binding protein 8 (CHD8) lead to autism symptoms and macrocephaly by a haploinsufficiency mechanism. However, studies of small animal models...

By generating a conditional loss-of-function and an endogenously tagged allele in human pluripotent stem cells, we investigated the molecular function and the interaction of CHD8 with chromatin in human neurons.