Associated Papers
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
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling.
Rapp C et al.
Biochimica Et Biophysica Acta. Biomembranes, 2017
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
Autosomal recessive nonsyndromic deafness genes: a review.
Duman D et al.
Frontiers in Bioscience (landmark Edition), 2012
DNA sequence analysis of SLC26A5, encoding prestin, in a patient-control cohort: identification of fourteen novel DNA sequence variations.
Minor JS et al.
Plos One, 2009
Prestin's anion transport and voltage-sensing capabilities are independent.
Bai JP et al.
Biophysical Journal, 2009
A new mutation in the human pres gene and its effect on prestin function.
Toth T et al.
International Journal of Molecular Medicine, 2007
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