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Mutations in LOXHD1, an Evolutionarily Conserved Stereociliary Protein, Disrupt Hair Cell Function in Mice and Cause Progressive Hearing Loss in Humans

Hearing loss is the most common form of sensory impairment in humans and is frequently progressive in nature. Here we link a previously uncharacterized gene to hearing impairment in mice and humans. We show that hearing loss in the ethylnitrosourea (ENU)-induced samba mouse line is caused by a mutat...

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Autors principals: Grillet, Nicolas, Schwander, Martin, Hildebrand, Michael S., Sczaniecka, Anna, Kolatkar, Anand, Velasco, Janice, Webster, Jennifer A., Kahrizi, Kimia, Najmabadi, Hossein, Kimberling, William J., Stephan, Dietrich, Bahlo, Melanie, Wiltshire, Tim, Tarantino, Lisa M., Kuhn, Peter, Smith, Richard J.H., Müller, Ulrich
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2009
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2771534/
https://ncbi.nlm.nih.gov/pubmed/19732867
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.07.017
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