ArticlePloS one2014
CHD7 deficiency in "Looper", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 32 citations in OpenAlex.
- Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.Orphanet journal of rare diseases · 2024Article
- CHD7 regulates craniofacial cartilage development via controlling HTR2B expression.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Article
- Article
- Review
- ASK1 is a novel molecular target for preventing aminoglycoside-induced hair cell death.Journal of molecular medicine (Berlin, Germany) · 2022Article
- Craniofacial and cardiac defects inFrontiers in cell and developmental biology · 2022Article
- Eyes on CHARGE syndrome: Roles of CHD7 in ocular development.Frontiers in cell and developmental biology · 2022Review
- Molecular Insights Into the Causes of Human Thymic Hypoplasia With Animal Models.Frontiers in immunology · 2020Review
- Cochlear histopathology in human genetic hearing loss: State of the science and future prospects.Hearing research · 2019Review
- Neural crest contributions to the ear: Implications for congenital hearing disorders.Hearing research · 2019Review
- Quantitative brain morphological analysis in CHARGE syndrome.NeuroImage. Clinical · 2019Article
- An intronic mutation in Chd7 creates a cryptic splice site, causing aberrant splicing in a mouse model of CHARGE syndrome.Scientific reports · 2018Article
- 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
- Guidelines in CHARGE syndrome and the missing link: Cranial imaging.American journal of medical genetics. Part C, Seminars in medical genetics · 2017Review
- The Chromodomain Helicase DNA-Binding Chromatin Remodelers: Family Traits that Protect from and Promote Cancer.Cold Spring Harbor perspectives in medicine · 2017Review
- Mouse Models for the Dissection of CHD7 Functions in Eye Development and the Molecular Basis for Ocular Defects in CHARGE Syndrome.Investigative ophthalmology & visual science · 2015Article
Corrections and comments
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Authors and funding
6 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
CHARGE syndrome is a rare human disorder caused by mutations in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7). Characteristics of CHARGE are varied and include developmental ear and hearing anomalies. Here we report a novel mouse model of CHD7 dysfunction, termed Looper. The Looper strain harbours a nonsense mutation (c.5690C>A, p.S1897X) within the Chd7 gene. Looper mice exhibit many of the clinical features of the human syndrome, consistent with previously reported CHARGE models, including growth retardation, facial asymmetry, vestibular defects, eye anomalies, hyperactivity, ossicle malformation, hearing loss and vestibular dysfunction. Looper mice display an otosclerosis-like fusion of the stapes footplate to the cochlear oval window and blepharoconjunctivitis but not coloboma. Looper mice are hyperactive and have vestibular dysfunction but do not display motor impairment.
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