Associated Papers
GDC: Integration of Multi-Omic and Phenotypic Resources to Unravel the Genetic Pathogenesis of Hearing Loss.
Cheng H et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
Hearing Loss and Audiogenic Seizures Induced by Hypofunctional Prestin Variants.
Takahashi S et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2025
Pathophysiology of genetic hearing loss caused by prestin variant: Considerations for future gene therapy.
Lue PY et al.
The Journal of Physiology, 2024
The frequency dependence of prestin-mediated fast electromotility for mammalian cochlear amplification.
Takahashi S et al.
Biorxiv : the Preprint Server for Biology, 2024
The pathogenic roles of the p.R130S prestin variant in DFNB61 hearing loss.
Takahashi S et al.
The Journal of Physiology, 2024
Functional studies of deafness-associated pendrin and prestin variants.
Takahashi S et al.
Biorxiv : the Preprint Server for Biology, 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
Prestin's fast motor kinetics is essential for mammalian cochlear amplification.
Takahashi S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Functional, Morphological, and Evolutionary Characterization of Hearing in Subterranean, Eusocial African Mole-Rats.
Pyott SJ et al.
Current Biology : Cb, 2020
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