ArticleProceedings of the National Academy of Sciences of the United States of America2012
Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 83 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
83 citing papers in PubMed, 1 synthesis or guideline pooled it, 127 citations in OpenAlex.
- Genotranscriptomic meta-analysis of the CHD family chromatin remodelers in human cancers - initial evidence of an oncogenic role for CHD7.Molecular oncology · 2017Pooled it
- A suite of macrocyclic peptide inhibitors and substrate probes for arginine methyltransferases.Chemical science · 2026Article
- AAmerican journal of translational research · 2026Article
- CHD7 regulates cardiac neural crest cell differentiation through SOX5-mediated self-activation.iScience · 2025Article
- CHD7 regulates definitive endodermal and mesodermal development from human embryonic stem cells.Stem cell research & therapy · 2025Article
- A novel cardiomyopathy phenotype linked to a CHD7 missense variant.Scientific reports · 2025Article
- Perturb-tracing enables high-content screening of multi-scale 3D genome regulators.Nature methods · 2025Article
- Development of Automated Systems for Cell Therapy.Advances in experimental medicine and biology · 2025Review
- Review
- Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy.Neurology. Genetics · 2024Article
- The complex etiology of autism spectrum disorder due to missense mutations of CHD8.Molecular psychiatry · 2024Article
- Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.Orphanet journal of rare diseases · 2024Article
- Editorial Comment to CHARGE syndrome with both primary and secondary hypogonadism.IJU case reports · 2024Article
- Genetic regulation of enteric nervous system development in zebrafish.Biochemical Society transactions · 2024Review
- Neurodevelopmental functions of CHD8: new insights and questions.Biochemical Society transactions · 2024Review
- Image-based 3D genomics through chromatin tracing.Nature reviews. Methods primers · 2024Article
- CHARGE syndrome-associated CHD7 acts at ISL1-regulated enhancers to modulate second heart field gene expression.Cardiovascular research · 2023Article
- Expanding the reproductive organ phenotype of CHD7-spectrum disorder.American journal of medical genetics. Part A · 2023Article
- CHD7 regulates otic lineage specification and hair cell differentiation in human inner ear organoids.Nature communications · 2022Article
- Eyes on CHARGE syndrome: Roles of CHD7 in ocular development.Frontiers in cell and developmental biology · 2022Review
23 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Mutations in the CHD7 gene cause human developmental disorders including CHARGE syndrome. Genetic studies in model organisms have further established CHD7 as a central regulator of vertebrate development. Functional analysis of the CHD7 protein has been hampered by its large size. We used a dual-tag system to purify intact recombinant CHD7 protein and found that it is an ATP-dependent nucleosome remodeling factor. Biochemical analyses indicate that CHD7 has characteristics distinct from SWI/SNF- and ISWI-type remodelers. Further investigations show that CHD7 patient mutations have consequences that range from subtle to complete inactivation of remodeling activity, and that mutations leading to protein truncations upstream of amino acid 1899 of CHD7 are likely to cause a hypomorphic phenotype for remodeling. We propose that nucleosome remodeling is a key function for CHD7 during developmental processes and provide a molecular basis for predicting the impact of disease mutations on that function.
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Registered trials
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