CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival

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 two new nonsense mutations (pGln12* and pTyr110*) in CIB2...

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Hlavní autoři:	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
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Springer Nature 2017-12-01
Edice:	EMBO Molecular Medicine
Témata:	CIB proteins human and mouse deafness Usher syndrome diagnosis
On-line přístup:	https://doi.org/10.15252/emmm.201708087
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