(redirected from Otoferlin)
OTOFOne Team One Fight (racing term)
OTOFOrthogonal Time-of-Flight (mass spectrometry)
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References in periodicals archive ?
A single intracochlear injection of the vector pair in adult mutant mice was used to reconstruct the otoferlin coding region by recombining 5' and 3'-end DNA segments, leading to long-term restoration of otoferlin expression in the inner hair cells, and then restored hearing.
The scientists have therefore obtained initial proof of the concept of viral transfer of fragmented cDNA in the cochlea using two vectors, showing that this approach can be used to produce otoferlin and durably correct the profound deafness phenotype in mice.
A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.
The expression of otoferlin, which is known to be present in the brain and is essential for glutamate exocytosis at the auditory ribbon synapse and reported to be defective in a recessive form of human deafness, showed significant decrease in the hippocampus of mice exposed to repeated blasts [19-20,40-42].
Otoferlin and otoancorin, which are involved in deafness, showed significant alteration in the hippocampus after repeated blast exposure.
Differentially expressed genes include otoferlin, otoancorin, cadherins, and calcium regulating proteins/receptors, which are known to play various roles in auditory processing and hearing impairment.
Control of exocytosis by synaptotagmins and otoferlin in auditory hair cells.
Differential expression of otoferlin in brain, vestibular system, immature and mature cochlea of the rat.
Q829X, a novel mutation in the gene encoding otoferlin (oToF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.
Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness.
Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (oToF) gene.
A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9.