Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A5
Variant:p.V499G
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SLC26A5

NM_198999.3:p.V499G

Associated Papers

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

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

The molecular principles underlying diverse functions of the SLC26 family of proteins.

Takahashi S et al.

Biorxiv : the Preprint Server for Biology, 2023

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

Cryo-EM structures of thermostabilized prestin provide mechanistic insights underlying outer hair cell electromotility.

Futamata H et al.

Nature Communications, 2022

The conformational cycle of prestin underlies outer-hair cell electromotility.

Bavi N et al.

Nature, 2021

Deletion of exons 17 and 18 in prestin's STAS domain results in loss of function.

Takahashi S et al.

Scientific Reports, 2019

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 V499G/Y501H mutation impairs fast motor kinetics of prestin and has significance for defining functional independence of individual prestin subunits.

Homma K et al.

The Journal of Biological Chemistry, 2013

Normal hearing sensitivity at low-to-middle frequencies with 34% prestin-charge density.

Yamashita T et al.

Plos One, 2012

Structural rearrangements of the motor protein prestin revealed by fluorescence resonance energy transfer.

Gleitsman KR et al.

American Journal of Physiology. Cell Physiology, 2009

alphaII-betaV spectrin bridges the plasma membrane and cortical lattice in the lateral wall of the auditory outer hair cells.

Legendre K et al.

Journal of Cell Science, 2008

The C-terminus of prestin influences nonlinear capacitance and plasma membrane targeting.

Zheng J et al.

Journal of Cell Science, 2005

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."