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A Mutation in CCDC50, a Gene Encoding an Effector of Epidermal Growth Factor¿Mediated Cell Signaling, Causes Progressive Hearing Loss

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Modamio Høybjør, Silvia & Mencía, Ángeles & Goodyear, Richard & del Castillo, Ignacio & Richardson, Guy & Moreno, Felipe & Moreno Pelayo, Miguel Ángel (2007-06 ) .A Mutation in CCDC50, a Gene Encoding an Effector of Epidermal Growth Factor¿Mediated Cell Signaling, Causes Progressive Hearing Loss.

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Modamio Høybjør, Silvia & Mencía, Ángeles & Goodyear, Richard & del Castillo, Ignacio & Richardson, Guy & Moreno, Felipe & Moreno Pelayo, Miguel Ángel. 2007-06 .A Mutation in CCDC50, a Gene Encoding an Effector of Epidermal Growth Factor¿Mediated Cell Signaling, Causes Progressive Hearing Loss.

https://hdl.handle.net/20.500.12080/39717
dc.contributor.author Modamio Høybjør, Silvia
dc.contributor.author Mencía, Ángeles
dc.contributor.author Goodyear, Richard
dc.contributor.author del Castillo, Ignacio
dc.contributor.author Richardson, Guy
dc.contributor.author Moreno, Felipe
dc.contributor.author Moreno Pelayo, Miguel Ángel
dc.date.accessioned 2024-02-12T14:01:12Z
dc.date.available 2024-02-12T14:01:12Z
dc.date.created 2007-06
dc.date.issued 2007-06
dc.identifier.uri https://hdl.handle.net/20.500.12080/39717
dc.description.abstract We previously mapped a novel autosomal dominant deafness locus, DFNA44, by studying a family with postlingual, progressive, nonsyndromic hearing loss. We report here on the identification of a mutation in CCDC50 as the cause of hearing loss in the family. CCDC50 encodes Ymer, an effector of epidermal growth factor (EGF)¿mediated cell signaling that is ubiquitously expressed in different organs and has been suggested to inhibit down-regulation of the EGF receptor. We have examined its expression pattern in mouse inner ear. Western blotting and cell transfection results indicate that Ymer is a soluble, cytoplasmic protein, and immunostaining shows that Ymer is expressed in a complex spatiotemporal pattern during inner ear development. In adult inner ear, the expression of Ymer is restricted to the pillar cells of the cochlea, the stria vascularis, and the vestibular sensory epithelia, where it shows spatial overlap with the microtubule based cytoskeleton. In dividing cells, Ymer colocalizes with microtubules of the mitotic apparatus. We suggest that DFNA44 hearing loss may result from a time-dependent disorganization of the microtubule-based cytoskeleton in the pillar cells and stria vascularis of the adult auditory system. es_ES
dc.format application/pdf es_ES
dc.language eng es_ES
dc.rights CC-BY es_ES
dc.rights.uri http://creativecommons.org/licenses/by/4.0/deed.es es_ES
dc.title A Mutation in CCDC50, a Gene Encoding an Effector of Epidermal Growth Factor¿Mediated Cell Signaling, Causes Progressive Hearing Loss es_ES
dc.type info:eu-repo/semantics/article es_ES
dc.rights.accessrights info:eu-repo/semantics/openAccess es_ES
dc.identifier.location N/A es_ES


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