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OTOF gene

Known as: FER1L2, fer-1-like family member 2, DFNB6 
National Institutes of Health

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otoferlin

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
On the Legacy of Genetically Altered Mouse Models to Explore Vestibular Function: Distribution of Vestibular Hair Cell Phenotypes in the Otoferlin-Null Mouse
Objectives: Early in his career, David Lim recognized the scientific impact of genetically anomalous mice exhibiting otoconia… 
2017
2017
An OTOF Frameshift Variant Associated with Auditory Neuropathy Spectrum Disorder
Background: Auditory Neuropathy Spectrum Disorder (ANSD) is manifested as impairment of auditory nerve activity but preservation… 
2017
2017
Inhibition of K+ outward currents by linopirdine in the cochlear outer hair cells of circling mice within the first postnatal week
Inhibition of K+ outward currents by linopirdine in the outer hair cells (OHCs) of circling mice (homozygous (cir/cir) mice), an… 
2016
2016
Not-So-Hidden Hearing Loss
38 The Hearing Journal May 2016 SG Kujawa and MC Liberman published a paper that instantly became a modern classic (Kujawa. J… 
2015
2015
Biochemical studies of the synaptic protein otoferlin
The C2 domain containing protein otoferlin is required for a late step in exocytosis from auditory inner hair cells and was… 
2015
2015
Characteristics of K+ Outward Currents in the Cochlear Outer Hair Cells of Circling Mice within the First Postnatal Week
K+ outward currents in the outer hair cells (OHCs) of circling mice (homozygous (cir/cir) mice), an animal model for human… 
2011
2011
Genetic Background of Prop1df Mutants Provides Remarkable Protection Against Hypothyroidism-Induced Hearing Impairment
Hypothyroidism is a cause of genetic and environmentally induced deafness. The sensitivity of cochlear development and function… 
2006
2006
[Auditory neuropathy due to the Q829X mutation in the gene encoding otoferlin (OTOF) in an infant screened for newborn hearing impairment].
We report an infant with auditory neuropathy secondary to the Q829X mutation in the gene encoding otoferlin (OTOF). Included in a… 
Review
2002
Review
2002
[Dysferlinopathy. Example of a new myopathy].
Over the past 10 years, the impact of modern microscopic pathology and molecular genetics on the knowledge of myopathies has been… 
2002
2002
TO JMG Q 829 X , a novel mutation in the gene encoding otoferlin ( OTOF ) , is frequently found in Spanish patients with prelingual non-syndromic hearing loss
Inherited hearing impairment is a highly heterogeneous group of disorders with an overall incidence of about 1 in 2000 newborns… 
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