Associated Papers
Pathophysiology of genetic hearing loss caused by prestin variant: Considerations for future gene therapy.
Lue PY et al.
The Journal of Physiology, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
The pathogenic roles of the p.R130S prestin variant in DFNB61 hearing loss.
Takahashi S et al.
The Journal of Physiology, 2024
The pathogenic roles of the p.R130S prestin variant in DFNB61 hearing loss.
Takahashi S et al.
Biorxiv : the Preprint Server for Biology, 2023
The R130S mutation significantly affects the function of prestin, the outer hair cell motor protein.
Takahashi S et al.
Journal of Molecular Medicine (berlin, Germany), 2016
Abnormal mRNA splicing but normal auditory brainstem response (ABR) in mice with the prestin (SLC26A5) IVS2-2A>G mutation.
Zhang J et al.
Mutation Research, 2016
The auditory phenotype of children harboring mutations in the prestin gene.
Matsunaga T et al.
Acta Oto-laryngologica, 2016
Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.
Mutai H et al.
Orphanet Journal of Rare Diseases, 2013
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