Chromodomain-helicase-DNA-binding protein 7 is an ATP-dependent 'chromatin' or 'nucleosome' remodeling factor [5] that in humans is encoded by the CHD7 gene. [6] [7] CHD7 is an ATP …

2006年10月2日 · CHD7 encodes a chromodomain protein that is involved in the ATP-dependent remodeling of chromatin. CHD7 binds to more than 10,000 sites in the mammalian genome …

2024年12月24日 · CHD7 (Chromodomain Helicase DNA Binding Protein 7) is a Protein Coding gene. Diseases associated with CHD7 include Charge Syndrome and Hypogonadotropic …

The CHD7 gene provides instructions for making a protein called chromodomain helicase DNA binding protein 7. This protein is found in many parts of the body before birth, including the …

A genetic mutation of the CHD7 gene causes CHARGE syndrome. The CHD7 gene gives your cells instructions to make a protein that packages your DNA into your chromosomes …

De novo mutations in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7) are the major cause of CHARGE syndrome. Here, we review the clinical features of 379 …

Welcome to the open-access database on CHD7 mutations. The CHD7 mutation database contains anonymised data on both published and unpublished CHD7 variations and …

Finally, we give updated recommendations for clinical surveillance of patients with a CHD7 mutation, based on our exploration of the phenotypic spectrum and on our experience in a …

2022年9月29日 · CHD7 disorder is an autosomal dominant disorder typically caused by a de novo pathogenic variant. In rare instances, an individual with <i>CHD7</i> disorder inherits a …

2025年2月9日 · Chromatin remodeler CHD7 targets active enhancer region to regulate cell type-specific gene expression in human neural crest cells. CHD7 regulates otic lineage …