… mutations and compound heterozygous mutations). Mono-allelic mutations in SLC26A4 are
found in about 16-36% of patients … NSHL with EVA is known to be typically characterized by …

… were determined in HeLa cells by quantitative imaging. Compared to the wild type, cells
expressing SLC26A4 p.… H723R mutation of the common deafness-associated SLC26A4 gene in …

… identified in patients. At the same time, the initial Sanger sequencing (as the gold standard
for identifying mutations) of all SLC26A4 … protein structure and function. However, a thorough …

… (the slope values provided in Table 1) determined in this study for wild type (WT; indicated by
blue … is critical for the function of a protein. Therefore, functional characterization of disease-…

… to identify second-allele variants in patients with a single-allele SLC26A4 mutation detected
by … A total of 14 variants were detected through SLC26A4 sequencing in this study (Table 1), …

… Among the 10 members of this family, mutations and … other SLC26 isoforms for which human
mutations have not yet been … Studies demonstrated that compared with wild-type, SLC26A6-…

… To functionally characterize five pendrin (SLC26A4) variants by measurement of the ion … )
was introduced into cells together with wild type and mutant SLC26A4 by co-transfection. The …

… The three-dimensional (3D) molecule structure of the wild-type and mutant p.Phe515Leu
type of pendrin protein was predicted by the I-Tasser program (https://zhanglab.ccmb.med.…

… For this, the cochleae of wild-type mice and profoundly deaf Slc26a4 919-2A>G/919-2A>G …
endonuclease Cas9 to mutate the Slc26a4 gene and further generate the Slc26a4 +/C565Y …

… Our patient failed hearing screening on both sides twice, and … has identified a novel missense
mutation in the SLC26A4 gene… wild-type and mutant type of the 15 tested loci, the wild-type …