Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human

Sensorineural hearing loss affects the quality of life and communication of millions of people, but the underlying molecular mechanisms remain elusive. Here, we identify mutations in Gipc3 underlying progressive sensorineural hearing loss (age-related hearing loss 5, ahl5 ) and audiogenic seizures (...

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Veröffentlicht in:	Nature communications 2011-02, Vol.2 (1), p.201-201, Article 201
Hauptverfasser:	Charizopoulou, Nikoletta, Lelli, Andrea, Schraders, Margit, Ray, Kausik, Hildebrand, Michael S., Ramesh, Arabandi, Srisailapathy, C. R. Srikumari, Oostrik, Jaap, Admiraal, Ronald J. C., Neely, Harold R., Latoche, Joseph R., Smith, Richard J. H., Northup, John K., Kremer, Hannie, Holt, Jeffrey R., Noben-Trauth, Konrad
Format:	Artikel
Sprache:	eng
Schlagworte:	631/208/727/2000 631/378/2619/1533 631/80/79/2066 692/699 Acoustic Stimulation Analysis of Variance Animals Carrier Proteins - genetics Crosses, Genetic DNA Mutational Analysis Genetic Predisposition to Disease - genetics Hair Cells, Auditory - metabolism Hearing Loss, Sensorineural - genetics Hearing Tests Humanities and Social Sciences Humans Immunoblotting Immunohistochemistry Mechanotransduction, Cellular - genetics Mice Mice, Transgenic multidisciplinary Mutation, Missense - genetics Science Science (multidisciplinary)
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