2022年6月1日 · We assembled a cohort of 21 families with inherited CHD3 variants and used a combination of objectified in-depth clinical analyses, cell-based expression studies, and large population cohort analyses to confirm the association of inherited CHD3 variants with SNIBCPS and to show that heterozygote parents, who were predominantly females, often ...

2024年12月24日 · CHD3 (Chromodomain Helicase DNA Binding Protein 3) is a Protein Coding gene. Diseases associated with CHD3 include Snijders Blok-Campeau Syndrome and Autism Spectrum Disorder. Among its related pathways are RNA Polymerase I Promoter Opening and PIP3 activates AKT signaling.

We mapped the CHD composition of NuRD complexes in mammalian cells and discovered that they are isoform-specific, containing either the monomeric CHD3 or CHD4 ATPase. Both types of complexes exhibit similar intranuclear mobility, interact with HP1 and rapidly accumulate at UV-induced DNA repair sites.

Chromodomain-helicase-DNA-binding protein 3 is an enzyme that in humans is encoded by the CHD3 gene. [5][6][7] This gene encodes a member of the CHD family of proteins which are characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains.

该基因编码 CHD 蛋白质家族的成员，其特征在于存在染色质 (染色质组织修饰剂) 结构域和 SNF2 相关解旋酶/ATP 酶结构域。 这种蛋白质是称为 Mi-2/NuRD 复合物的组蛋白去乙酰化酶复合物的组分之一，它通过使组蛋白去乙酰化参与染色质的重塑。 染色质重塑对于包括转录在内的许多过程都是必不可少的。 在一部分皮肌炎患者中发现了针对这种蛋白质的自身抗体。 已经描述了编码不同亚型的三种可变剪接转录本。 [RefSeq 提供，2008 年 7 月]

2006年2月7日 · Localizes to sites of DNA damage (PubMed: 28977666). An autosomal dominant neurodevelopmental disorder characterized by intellectual disability with a wide range of severity, developmental delay, and impaired speech and language skills. Speech-related problems include dysarthria, speech apraxia, oromotor problems, and stuttering.

2024年8月15日 · chd3在laml（急性骨髓性白血病），paad（胰腺癌）和thym中表现出上调，而在cesc（宫颈癌），coad（结肠癌），gbm（胶质母细胞瘤），kich（肾嫌色细胞），ov，read（直肠癌），tgct，thca（甲状腺癌），ucec和ucs中则下调（图1c）。

1993年3月1日 · We introduce a joint treatment using one potential surface for a set of different isotopomers for both internal coordinate and normal coordinate models. The latter uses the explicit transformation between internal and normal coordinates.

Even small changes in CHD3 can disrupt that process, resulting in abnormal brain development and creating a variety of conditions that affect other parts of the body. Common traits are intellectual disability, developmental delays, hypotonia, impaired speech and language, and characteristic facial features.

2017年10月13日 · CHD3 and CHD4 (Chromodomain Helicase DNA binding protein), two highly similar representatives of the Mi-2 subfamily of SF2 helicases, are coexpressed in many cell lines and tissues and have been reported to act as the motor subunit of the NuRD complex (nucleosome remodeling and deacetylase activitie …