ArticleDevelopmental biology2013
Knockdown of fbxl10/kdm2bb rescues chd7 morphant phenotype in a zebrafish model of CHARGE syndrome.
Article in Developmental biology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 40 citations in OpenAlex.
- Multi-omic analyses identify molecular targets of Chd7 that contribute to CHARGE syndrome model phenotypes.Disease models & mechanisms · 2026Article
- Integrated quantitative proteomics and phosphoproteomics analysis reveals USP46-POU4F1-HPSE signaling axis in the pathogenesis of Hirschsprung disease.Acta biochimica et biophysica Sinica · 2025Article
- Review
- Article
- Epigenetic regulation of craniofacial development and disease.Birth defects research · 2024Review
- Morphological and sensorimotor phenotypes in a zebrafish CHARGE syndrome model are domain-dependent.Genes, brain, and behavior · 2023Article
- Mutual Regulation of ncRNAs and Chromatin Remodeling Complexes in Normal and Pathological Conditions.International journal of molecular sciences · 2023Review
- The Contribution of the Zebrafish Model to the Understanding of Polycomb Repression in Vertebrates.International journal of molecular sciences · 2023Review
- Chromatin remodeler Chd7 regulates photoreceptor development and outer segment length.Experimental eye research · 2023Article
- Eyes on CHARGE syndrome: Roles of CHD7 in ocular development.Frontiers in cell and developmental biology · 2022Review
- Craniofacial and cardiac defects inFrontiers in cell and developmental biology · 2022Article
- Zebrafish as an experimental model for the simulation of neurological and craniofacial disorders.Veterinary world · 2022Review
- CHD7 regulates cardiovascular development through ATP-dependent and -independent activities.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- FBXL10 regulates cardiac dysfunction in diabetic cardiomyopathy via the PKC β2 pathway.Journal of cellular and molecular medicine · 2019Article
- Molecular dissection of CHARGE syndrome highlights the vulnerability of neural crest cells to problems with alternative splicing and other transcription-related processes.Transcription · 2019Review
- Chromatin remodelling and epigenetic state regulation by non-coding RNAs in the diseased heart.Non-coding RNA research · 2018Review
- Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- Zebrafish Models of Neurodevelopmental Disorders: Past, Present, and Future.Frontiers in molecular neuroscience · 2018Review
- New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries.American journal of medical genetics. Part C, Seminars in medical genetics · 2017Review
- Chd8 mediates cortical neurogenesis via transcriptional regulation of cell cycle and Wnt signaling.Nature neuroscience · 2016Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
CHARGE syndrome is a sporadic autosomal-dominant genetic disorder characterized by a complex array of birth defects so named for its cardinal features of ocular coloboma, heart defects, choanal atresia, growth retardation, genital abnormalities, and ear abnormalities. Approximately two-thirds of individuals clinically diagnosed with CHARGE syndrome have heterozygous loss-of-function mutations in the gene encoding chromodomain helicase DNA-binding protein 7 (CHD7), an ATP-dependent chromatin remodeler. To examine the role of Chd7 in development, a zebrafish model was generated through morpholino (MO)-mediated targeting of the zebrafish chd7 transcript. High doses of chd7 MO induce lethality early in embryonic development. However, low dose-injected embryos are viable, and by 4 days post-fertilization, morphant fish display multiple defects in organ systems analogous to those affected in humans with CHARGE syndrome. The chd7 morphants show elevated expression of several potent cell-cycle inhibitors including ink4ab (p16/p15), p21 and p27, accompanied by reduced cell proliferation. We also show that Chd7 is required for proper organization of neural crest-derived craniofacial cartilage structures. Strikingly, MO-mediated knockdown of the jumonji domain-containing histone demethylase fbxl10/kdm2bb, a repressor of ribosomal RNA (rRNA) genes, rescues cell proliferation and cartilage defects in chd7 morphant embryos and can lead to complete rescue of the CHARGE syndrome phenotype. These results indicate that CHARGE-like phenotypes in zebrafish can be mitigated through modulation of fbxl10 levels and implicate FBXL10 as a possible therapeutic target in CHARGE syndrome.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.