Pyroptosis, metabolism, and tumor immune microenvironment

T Du, J Gao, P Li, Y Wang, Q Qi, X Liu… - Clinical and …, 2021 - Wiley Online Library
In response to a wide range of stimulations, host cells activate pyroptosis, a kind of
inflammatory cell death which is provoked by the cytosolic sensing of danger signals and …

Auditory synaptopathy, auditory neuropathy, and cochlear implantation

AE Shearer, MR Hansen - Laryngoscope investigative …, 2019 - Wiley Online Library
Cochlear implantation has become the standard‐of‐care for adults and children with severe
to profound hearing loss. There is growing evidence that qualitative as well as quantitative …

Usher syndrome

A Castiglione, C Möller - Audiology research, 2022 - mdpi.com
Usher syndrome (USH) is the most common genetic condition responsible for combined loss
of hearing and vision. Balance disorders and bilateral vestibular areflexia are also observed …

Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance

AE Shearer, RW Eppsteiner, K Frees, V Tejani… - Hearing research, 2017 - Elsevier
Background Cochlear implantation is an effective habilitation modality for adults with
significant hearing loss. However, post-implant performance is variable. A portion of this …

Cochlear implantation outcomes in patients with auditory neuropathy spectrum disorder of genetic and non-genetic etiologies: a multicenter study

PH Lin, HP Wu, CM Wu, YT Chiang, JS Hsu, CY Tsai… - Biomedicines, 2022 - mdpi.com
With diverse etiologies and clinical features, the management of pediatric auditory
neuropathy spectrum disorder (ANSD) is often challenging, and the outcomes of cochlear …

[HTML][HTML] Gene therapy with a synthetic adeno-associated viral vector improves audiovestibular phenotypes in Pjvk-mutant mice

YC Lu, YH Tsai, YH Chan, CJ Hu, CY Huang, R Xiao… - JCI insight, 2022 - ncbi.nlm.nih.gov
Recessive PJVK mutations that cause a deficiency of pejvakin, a protein expressed in both
sensory hair cells and first-order neurons of the inner ear, are an important cause of …

Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations

CM Wu, HC Ko, YT Tsou, YH Lin, JL Lin, CK Chen… - PloS one, 2015 - journals.plos.org
Objectives To investigate speech and language outcomes in children with cochlear implants
(CIs) who had mutations in common deafness genes and to compare their performances …

Functional pathogenicity of ESRRB variant of uncertain significance contributes to hearing loss (DFNB35)

WH Choi, Y Cho, JH Cha, DH Lee, JG Jeong… - Scientific Reports, 2024 - nature.com
Advances in next-generation sequencing technologies have led to elucidation of
sensorineural hearing loss genetics and associated clinical impacts. However, studies on …

AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss

RK Thorpe, WD Walls, R Corrigan, A Schaefer, K Wang… - Human genetics, 2022 - Springer
Autosomal dominant non-syndromic hearing loss (ADNSHL) displays gene-specific
progression of hearing loss, which is amenable to sequential audioprofiling. We sought to …

Auditory cortex interneuron development requires cadherins operating hair-cell mechanoelectrical transduction

B Libé-Philippot, V Michel… - Proceedings of the …, 2017 - National Acad Sciences
Many genetic forms of congenital deafness affect the sound reception antenna of cochlear
sensory cells, the hair bundle. The resulting sensory deprivation jeopardizes auditory cortex …