ArticleHearing research2011
Mature middle and inner ears express Chd7 and exhibit distinctive pathologies in a mouse model of CHARGE syndrome.
Article in Hearing research, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
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Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.Human genomics · 2025Pooled it
- Development of the semicircular canals and otolithic organs of the vertebrate inner ear.Current topics in developmental biology · 2025Review
- CHD7 and SOX2 act in a common gene regulatory network during mammalian semicircular canal and cochlear development.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct.Human genetics · 2023Article
- Deletion of theInternational journal of molecular sciences · 2023Article
- The spectrum of cochlear malformations in CHARGE syndrome and insights into the role of the CHD7 gene during embryogenesis of the inner ear.Neuroradiology · 2023Review
- Loss of the chromatin remodeler CHD7 impacts glial cells and myelination in the mouse cochlear spiral ganglion.Hearing research · 2022Article
- Article
- The chromatin remodelling factor Chd7 protects auditory neurons and sensory hair cells from stress-induced degeneration.Communications biology · 2021Article
- Chromatin remodeler CHD7 is critical for cochlear morphogenesis and neurosensory patterning.Developmental biology · 2021Article
- Article
- Neural crest contributions to the ear: Implications for congenital hearing disorders.Hearing research · 2019Review
- CHD7 represses the retinoic acid synthesis enzyme ALDH1A3 during inner ear development.JCI insight · 2018Article
- Assessing ototoxicity due to chronic lead and cadmium intake with and without noise exposure in the mature mouse.Journal of toxicology and environmental health. Part A · 2018Article
- Single Cell Transcriptomics Reveal Abnormalities in Neurosensory Patterning of theFrontiers in genetics · 2018Article
- Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures.American journal of medical genetics. Part C, Seminars in medical genetics · 2017Review
- 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
- Insights into inner ear-specific gene regulation: Epigenetics and non-coding RNAs in inner ear development and regeneration.Seminars in cell & developmental biology · 2017Review
- The Chromodomain Helicase DNA-Binding Chromatin Remodelers: Family Traits that Protect from and Promote Cancer.Cold Spring Harbor perspectives in medicine · 2017Review
- Identification of induced and naturally occurring conductive hearing loss in mice using bone conduction.Hearing research · 2017Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
Heterozygous mutations in the gene encoding chromodomain-DNA-binding-protein 7 (CHD7) cause CHARGE syndrome, a multiple anomaly condition which includes vestibular dysfunction and hearing loss. Mice with heterozygous Chd7 mutations exhibit semicircular canal dysgenesis and abnormal inner ear neurogenesis, and are an excellent model of CHARGE syndrome. Here we characterized Chd7 expression in mature middle and inner ears, analyzed morphological features of mutant ears and tested whether Chd7 mutant mice have altered responses to noise exposure and correlated those responses to inner and middle ear structure. We found that Chd7 is highly expressed in mature inner and outer hair cells, spiral ganglion neurons, vestibular sensory epithelia and middle ear ossicles. There were no obvious defects in individual hair cell morphology by prestin immunostaining or scanning electron microscopy, and cochlear innervation appeared normal in Chd7(Gt)(/+) mice. Hearing thresholds by auditory brainstem response (ABR) testing were elevated at 4 and 16 kHz in Chd7(Gt)(/+) mice, and there were reduced distortion product otoacoustic emissions (DPOAE). Exposure of Chd7(Gt)(/+) mice to broadband noise resulted in variable degrees of hair cell loss which inversely correlated with severity of stapedial defects. The degrees of hair cell loss and threshold shifts after noise exposure were more severe in wild type mice than in mutants. Together, these data indicate that Chd7(Gt)(/+) mice have combined conductive and sensorineural hearing loss, correlating with changes in both middle and inner ears.
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Registered trials
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.