ArticlePloS one2013
Mcph1-deficient mice reveal a role for MCPH1 in otitis media.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 53 citations in OpenAlex.
- The analyses of human MCPH1 DNA repair machinery and genetic variations.Open medicine (Warsaw, Poland) · 2024Article
- Neurogenesis in primates versus rodents and the value of non-human primate models.National science review · 2023Review
- DNA damage and repair: underlying mechanisms leading to microcephaly.Frontiers in cell and developmental biology · 2023Review
- The Central Domain of MCPH1 Controls Development of the Cerebral Cortex and Gonads in Mice.Cells · 2022Article
- Multifaceted Microcephaly-Related Gene MCPH1.Cells · 2022Review
- Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three GenesBioMed research international · 2022Article
- The N-terminal BRCT domain determines MCPH1 function in brain development and fertility.Cell death & disease · 2021Article
- Mechanistic Analysis of Age-Related Clinical Manifestations in Down Syndrome.Frontiers in aging neuroscience · 2021Article
- Microcephalin 1/BRIT1-TRF2 interaction promotes telomere replication and repair, linking telomere dysfunction to primary microcephaly.Nature communications · 2020Article
- Genomics of Otitis Media (OM): Molecular Genetics Approaches to Characterize Disease Pathophysiology.Frontiers in genetics · 2020Review
- Article
- Recent Perspectives on Gene-Microbe Interactions Determining Predisposition to Otitis Media.Frontiers in genetics · 2019Review
- Novel compound heterozygous mutations in MCPH1 gene causes primary microcephaly in Saudi family.Neurosciences (Riyadh, Saudi Arabia) · 2018Article
- Understanding the aetiology and resolution of chronic otitis media from animal and human studies.Disease models & mechanisms · 2017Review
- A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.Nature communications · 2017Article
- Panel 3: Genetics and Precision Medicine of Otitis Media.Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2017Review
- TALEN-based generation of a cynomolgus monkey disease model for human microcephaly.Cell research · 2016Article
- Loss of Mrap2 is associated with Sim1 deficiency and increased circulating cholesterol.The Journal of endocrinology · 2016Article
- Wbp2 is required for normal glutamatergic synapses in the cochlea and is crucial for hearing.EMBO molecular medicine · 2016Article
- Ectopic Mineralization and Conductive Hearing Loss in Enpp1asj Mutant Mice, a New Model for Otitis Media and Tympanosclerosis.PloS one · 2016Article
Corrections and comments
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Authors and funding
13 authors at 3 institutions in 2 countries.
Funding
Abstract
Otitis media is a common reason for hearing loss, especially in children. Otitis media is a multifactorial disease and environmental factors, anatomic dysmorphology and genetic predisposition can all contribute to its pathogenesis. However, the reasons for the variable susceptibility to otitis media are elusive. MCPH1 mutations cause primary microcephaly in humans. So far, no hearing impairment has been reported either in the MCPH1 patients or mouse models with Mcph1 deficiency. In this study, Mcph1-deficient (Mcph1(tm1a) (/tm1a) ) mice were produced using embryonic stem cells with a targeted mutation by the Sanger Institute's Mouse Genetics Project. Auditory brainstem response measurements revealed that Mcph1(tm1a) (/tm1a) mice had mild to moderate hearing impairment with around 70% penetrance. We found otitis media with effusion in the hearing-impaired Mcph1(tm1a) (/tm1a) mice by anatomic and histological examinations. Expression of Mcph1 in the epithelial cells of middle ear cavities supported its involvement in the development of otitis media. Other defects of Mcph1(tm1a) (/tm1a) mice included small skull sizes, increased micronuclei in red blood cells, increased B cells and ocular abnormalities. These findings not only recapitulated the defects found in other Mcph1-deficient mice or MCPH1 patients, but also revealed an unexpected phenotype, otitis media with hearing impairment, which suggests Mcph1 is a new gene underlying genetic predisposition to otitis media.
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