A novel splice site mutation of myosin VI in mice leads to stereociliary fusion caused by disruption of actin networks in the apical region of inner ear hair cells

An unconventional myosin encoded by the myosin VI gene (MYO6) contributes to hearing loss in humans. Homozygous mutations of MYO6 result in nonsyndromic profound congenital hearing loss, DFNB37. Kumamoto shaker/waltzer (ksv) mice harbor spontaneous mutations, and homozygous mutants exhibit congenita...

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Detalles Bibliográficos
Autores principales: Seki, Yuta, Miyasaka, Yuki, Suzuki, Sari, Wada, Kenta, Yasuda, Shumpei P., Matsuoka, Kunie, Ohshiba, Yasuhiro, Endo, Kentaro, Ishii, Rie, Shitara, Hiroshi, Kitajiri, Shin-ichiro, Nakagata, Naomi, Takebayashi, Hirohide, Kikkawa, Yoshiaki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5568226/
https://www.ncbi.nlm.nih.gov/pubmed/28832620
http://dx.doi.org/10.1371/journal.pone.0183477

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