Meniere’s diseases [MD; MIM 156000] is a chronic disorder characterized by attacks of vertigo
associated with sensorineural hearing loss (SNHL) involving low to medium frequencies. …

… Equally, variations in SLC26A4 are regional and population-specific; while SLC26A4: c.…
likely selection of some pathogenic alleles, described as founder mutations. However, to date, …

… of wild type and mutated transcript. (C) Schematic representation of wild type and mutated …
of EVA should consider functional characterization of SLC26A4 genomic architecture in a cell-…

… In patients with Pendred syndrome and DFNB4 (autosomal recessive type of genetic hearing
loss 4), caused by variants in SLC26A4, the hearing function … pH of wild-type pendrin (WT-…

… , patients homozygous for a loss of function mutation in … For other members of the SLC26
family, like SLC26A4, it was … of SLC26A9, comparable to wild type animals. This suggests …

… transfected with plasmid carrying wild-type sequence of interest… : if we excluded the patients
related to SLC26A4 from the … CHD7 gene detected in this study were all de novo mutations. …

… This probemix contains six probes detecting the wild type … recessive biallelic pathogenic
variants in the SLC26A4 gene, … missense mutations have also been described in patients with …

… The structures of A and C are wild-type, whereas B and D are mutant. The two residues
are … in patients with no mutations in GJB2, GJB3, SLC26A4 and mitochondrial 12SrRNA. …

… Another cohort study found pathogenic or possibly deleterious mutations in GJB2, MYO7A,
… be attributed to SLC26A4. While the majority of the identified variants are described as non-…

… analysis and subsequent whole-genome sequencing analysis on a subset of these patients.
… for two deleted large noncoding intervals were indistinguishable from wild-type mice in …