[HTML][HTML] Auditory neuropathy spectrum disorders: from diagnosis to treatment: literature review and case reports
RD De Siati, F Rosenzweig, G Gersdorff… - Journal of clinical …, 2020 - mdpi.com
Auditory neuropathy spectrum disorder (ANSD) refers to a range of hearing impairments
characterized by deteriorated speech perception, despite relatively preserved pure-tone …
characterized by deteriorated speech perception, despite relatively preserved pure-tone …
[HTML][HTML] Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort
Purpose: Autosomal recessive nonsyndromic deafness (ARNSD) is characterized by a high
degree of genetic heterogeneity, with reported mutations in 58 different genes. This study …
degree of genetic heterogeneity, with reported mutations in 58 different genes. This study …
The genetic basis of auditory neuropathy spectrum disorder (ANSD)
OBJECTIVE: Auditory neuropathy is a hearing disorder where outer hair cell function within
the cochlea is normal, but inner hair cell and/or the auditory nerve function is disrupted. It is …
the cochlea is normal, but inner hair cell and/or the auditory nerve function is disrupted. It is …
[HTML][HTML] The natural history, clinical outcomes, and genotype–phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review
CL Ford, WJ Riggs, T Quigley, OP Keifer Jr, JP Whitton… - Human Genetics, 2023 - Springer
Congenital hearing loss affects one in 500 newborns. Sequence variations in OTOF, which
encodes the calcium-binding protein otoferlin, are responsible for 1–8% of congenital …
encodes the calcium-binding protein otoferlin, are responsible for 1–8% of congenital …
Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila
CJ Schoen, SB Emery, MC Thorne… - Proceedings of the …, 2010 - National Acad Sciences
Auditory neuropathy is a rare form of deafness characterized by an absent or abnormal
auditory brainstem response with preservation of outer hair cell function. We have identified …
auditory brainstem response with preservation of outer hair cell function. We have identified …
[HTML][HTML] The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment
The OTOF gene encodes otoferlin, a critical protein at the synapse of auditory sensory cells,
the inner hair cells (IHCs). In the absence of otoferlin, signal transmission of IHCs fails due to …
the inner hair cells (IHCs). In the absence of otoferlin, signal transmission of IHCs fails due to …
Hair cell synaptic dysfunction, auditory fatigue and thermal sensitivity in otoferlin Ile515Thr mutants
N Strenzke, R Chakrabarti, H Al‐Moyed, A Müller… - The EMBO …, 2016 - embopress.org
The multi‐C2 domain protein otoferlin is required for hearing and mutated in human
deafness. Some OTOF mutations cause a mild elevation of auditory thresholds but strong …
deafness. Some OTOF mutations cause a mild elevation of auditory thresholds but strong …
Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!
Transient deafness associated with an increase in core body temperature is a rare and
puzzling disorder. Temperature-dependent deafness has been previously observed in …
puzzling disorder. Temperature-dependent deafness has been previously observed in …
Nerve maintenance and regeneration in the damaged cochlea
SB Shibata, CL Budenz, SA Bowling, BE Pfingst… - Hearing research, 2011 - Elsevier
Following the onset of sensorineural hearing loss, degeneration of mechanosensitive hair
cells and spiral ganglion cells (SGCs) in humans and animals occurs to variable degrees …
cells and spiral ganglion cells (SGCs) in humans and animals occurs to variable degrees …