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CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival
Autor:
Vincent Michel, Kevin T Booth, Pranav Patni, Matteo Cortese, Hela Azaiez, Amel Bahloul, Kimia Kahrizi, Ménélik Labbé, Alice Emptoz, Andrea Lelli, Julie Dégardin, Typhaine Dupont, Asadollah Aghaie, Danuta Oficjalska‐Pham, Serge Picaud, Hossein Najmabadi, Richard J Smith, Michael R Bowl, Steven DM Brown, Paul Avan, Christine Petit, Aziz El‐Amraoui
Publikováno v:
EMBO Molecular Medicine, Vol 9, Iss 12, Pp 1711-1731 (2017)
Abstract Defects of CIB2, calcium‐ and integrin‐binding protein 2, have been reported to cause isolated deafness, DFNB48 and Usher syndrome type‐IJ, characterized by congenital profound deafness, balance defects and blindness. We report here tw
Externí odkaz:
https://doaj.org/article/e937db1c0a3f42f8996a47b2bad6c98a
