Results 91 to 100 of about 777,793 (338)
First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene
Journal of Translational Medicine, 2019 Background Biallelic PTPRQ pathogenic variants have been previously reported as causative for autosomal recessive non-syndromic hearing loss. In 2018 the first heterozygous PTPRQ variant has been implicated in the development of autosomal dominant non ...
Dominika Oziębło +9 more
doaj +1 more source
AAVR Expression is Essential for AAV Vector Transduction in Sensory Hair Cells
Advanced Science, EarlyView.Decreased sensitivity to AAV vector transduction in the outer hair cells (OHCs) of adult mice is primarily attributed to reduction of AAVR (Kiaa0319l; Au040320). Knockout of AAVR reduces AAV vector transduction efficiency in both inner hair cells (IHCs) and OHCs in neonatal mice.
Fan Wu +8 more
wiley +1 more source
Advanced Science, EarlyView.Wei et al. establish a hair cell‐specific conditional knockout mouse model (Atp6v1b2fl/fl;Atoh1Cre/+), and demonstrate the importance of Atp6v1b2 for hair cell through maintaining the survival of lysosomes. A single administration of AAV‐ie‐Eh3‐mAtp6v1b2 through scala media at P0‐P2 realizes function compensation and restores hearing and balance ...
Gege Wei +15 more
wiley +1 more source
Advanced Science, EarlyView.Overview of the Genetic Deafness Commons (GDC), integrating data from the Chinese Deafness Genetics Consortium (CDGC) and 51 public databases. The GDC provides tools for variant search, functional predictions, and gene‐disease visualization, offering insights into 201 hearing loss genes and facilitating novel gene discovery and clinical applications ...
Hui Cheng +11 more
wiley +1 more source
Impact of Language Barriers and Age on English Hearing Test App Accuracy for Polish Users
OTO OpenObjective The development of health applications (apps) includes those for testing hearing, although most of them are available only in English. This study investigates whether poor English language proficiency creates a barrier for Polish users in the ...
Małgorzata Pastucha +3 more
doaj +1 more source
Advanced Science, EarlyView.Noise‐induced synaptopathy (NIS) is largely reversible due to self‐repair. NIS and noise‐induced hidden hearing loss are two concepts with similarities and differences. The major hearing deficits in NIHHL are temporal processing disorders. The translation of animal data in NIS studies to humans is hindered by many factors.
Hui Wang, Steven J Aiken, Jian Wang
wiley +1 more source
Advanced Science, EarlyView.This study shows that gene replacement therapy using the AAV2/Anc80L65 virus can successfully restore hearing and balance in Ush1c knockout mice. The treatment leads to lasting improvements in both auditory and vestibular functions, highlighting its potential as a therapeutic approach for genetic hearing loss and vestibular disorders in humans ...
Weinan Du +13 more
wiley +1 more source
Non-Musicians Experience Early Aging in Speech Perception in Noise Abilities Compared to Musicians
Journal of OtologyBackgroundResearch has shown that musicians outperform non-musicians in speech perception in noise (SPiN) tasks. However, it remains unclear whether the advantages of musical training are substantial enough to slow down the decline in SPiN performance ...
Kruthika. S., Ajith Kumar Uppunda
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