… The purpose of this study was to identify and functionally characterize new variants in the TG
… the wild-type allele in homozygous form (Table 1). Interestingly, since the mutated leucine …

… the mutant allele was higher than that of the wild-type allele … Notably, some of the patients
in this study were identified to … with fluctuating hearing loss (SLC26A4), auditory neuropathy (…

… fluid absorption in the ileum of wild-type and CF mice (Cftr … that PAT1 inh -A0030 does not
inhibit SLC26A3, SLC26A4 … CF harboring the most common CFTR mutation (Cftr delF508/…

… In a cohort of patients, single allele variants in SLC26A4 fail to … ear due to gain of function
of mutant cochlin. Cochlin protein is … the wild-type mice [144]. Similarly, in a cohort of 66 ARHL …

… , SLC26A4, and MT-RNR1 genes, followed by next-generation sequencing. If no candidate
pathogenetic variants were found, … We generated wild-type and mutant minigene plasmids for …

… structure protein prediction of the wild‑type KCNQ4 protein and its … the most commonly mutated
genes found in patients with ADNSHL… Sanger sequencing for SLC26A4, GJB2, GJB3 and …

… that the double allele mutation of SLC26A4 gene (also known as … The mRNA expression
of SLC26A4 was found to be highly … were higher in Slc26a4−/− mice than in wild-type mice. …

… variants in ESPN and SLC26A4 were each found in two families, … of POTEI showing the
wild-type and mutated residues in a … to perform in vitro functional analysis, particularly for the 17 …

… The functional characterization of loss-of-function NIS variants identified in patients has …
The wild-type (WT) minigene generated a major transcript of 470 bp compatible with the …

… SLC26A4 in human airway epithelial cells can be activated by CRE. As expected, we found
an increased expression of SLC26A4 … SLC26a4 in AT2 cells and serum of asthmatic patients…