Cytoplasmic Mislocalization of POU3F4 Due to Novel Mutations Leads to Deafness in Humans and Mice

POU3F4 is a POU domain transcription factor that is required for hearing. In the ear, POU3F4 is essential for mesenchymal remodeling of the bony labyrinth and is the causative gene for DFNX2 human non-syndromic deafness. Ear abnormalities underlie this form of deafness, characterized previously in m...

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Detalhes bibliográficos
Main Authors: Parzefall, Thomas, Shivatzki, Shaked, Lenz, Danielle R., Rathkolb, Birgit, Ushakov, Kathy, Karfunkel, Daphne, Shapira, Yisgav, Wolf, Michael, Mohr, Manuela, Wolf, Eckhard, Sabrautzki, Sibylle, De Angelis, Martin Hrabé, Frydman, Moshe, Brownstein, Zippora, Avraham, Karen B.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3714346/
https://ncbi.nlm.nih.gov/pubmed/23606368
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22339
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