WebNov 8, 2024 · Chromodomain helicase DNA binding protein 2 ( Chd2) is a chromatin remodeller implicated in neurological disease. Here we show that Chaserr, a highly conserved long noncoding RNA transcribed from ... WebChd2, also known as Chromodomain-helicase-DNA-binding protein 2 (CHD-2), or ATP-dependent helicase CHD2, and encoded by the gene CHD2, belongs to the CHD family of proteins. This family is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains.
Chromatin Remodeling Proteins in Epilepsy: Lessons From CHD2 ...
WebJul 9, 2015 · An independent whole-exome–based CLL study reported CHD2 to be recurrently mutated in 3.75% of a cohort of 160 patients. 16 Half of the mutations identified in this work were truncating, in good agreement with our data. A search in the COSMIC database 28 shows that CHD2 is also frequently mutated in some solid tumors, mainly … WebFeb 11, 2024 · Pathogenic variants in CHD2 have been reported to have a wide range of phenotypic variability in neurodevelopmental disorders, such as early-onset epileptic encephalopathy, developmental delay, and behavior problems. So far, there is no clear correlation between genotypes and phenotypes. This study reports a Chinese patient … tandem hcp software
CHD2-Related Neurodevelopmental Disorders - GeneReviews
WebDec 5, 2024 · Mutations in the chromodomain helicase DNA-binding 2 (CHD2) gene have been found in patients with a range of neurodevelopmental disorders. In this issue of Neuron, Kim et al. (2024) showed that Chd2 haploinsufficiency compromises cortical development, synaptic function, and memory in mice. WebMar 21, 2024 · Background: The chromodomain helicase DNA-binding protein 2 (CHD2) gene, is an ATPase and part of the CHD family of chromatin remodelers. Mutations in the CHD2 gene are inherited in an autosomal-dominant manner and can lead to intellectual disability, epilepsy, and autism. We investigated the clinical characteristics of CHD2 … http://epilepsygenetics.net/2015/02/17/chd2-myoclonic-encephalopathy-delineating-a-novel-disease/ tandem grill house