A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9
- 31 December 2007
- journal article
- Published by Elsevier in Hearing Research
- Vol. 234 (1-2) , 21-28
- https://doi.org/10.1016/j.heares.2007.09.005
Abstract
No abstract availableKeywords
This publication has 26 references indexed in Scilit:
- Thyroid Hormone Deficiency Affects Postnatal Spiking Activity and Expression of Ca2+and K+Channels in Rodent Inner Hair CellsJournal of Neuroscience, 2007
- A Forward Genetics Screen in Mice Identifies Recessive Deafness Traits and Reveals That Pejvakin Is Essential for Outer Hair Cell FunctionJournal of Neuroscience, 2007
- Auditory fidelityNature, 2006
- Differential expression of otoferlin in brain, vestibular system, immature and mature cochlea of the ratEuropean Journal of Neuroscience, 2006
- Snaring Otoferlin's Role in DeafnessCell, 2006
- OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy alleleJournal of Medical Genetics, 2005
- A novel missense mutation in a C2 domain ofOTOF results in autosomal recessive auditory neuropathyAmerican Journal of Medical Genetics Part A, 2005
- Random mutagenesis of proximal mouse chromosome 5 uncovers predominantly embryonic lethal mutationsGenome Research, 2005
- Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF)Human Mutation, 2003
- Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing lossJournal of Medical Genetics, 2002