… Three-dimensional structure molecular modeling of wild-type and mutant pendrin was
carried out using the SWISS-MODEL (https://swissmodel.expasy.org/) program. The potential …

… to identify potential pathogenic mutations in SLC5A5, SLC26A4, SLC26A7 and IYD in a cohort
of 606 CH patients… degree when comparing with wild type, while the score of mutant IYD p.…

… The monoallelic SLC26A4 cases (33.3%) were detected in patients of Siberian origin (two …
Since, in this cohort of patients, we did not find a second mutant allele in this gene and did not …

… Plasmids were transiently transfected into four different cell types (HEK293, HeLa, U-87 MG,
and HepG2), and the splicing patterns of the wild-type (WT) minigene and the A-2G mutant …

… characterize the role of N-glycosylation and the effect of mutations in SLC26A2 and A3 proteins
on their functional … mutants compared to the wild type, as determined with a Student t test. …

… When we delivered rAAV2/1-Slc26a4-tGFP, the mRNA expression of wild-type Slc26a4 …
We also determined that mRNA expression of the tGFP was only detectable in the inner ear …

… patients with Pendred syndrome carry biallelic loss-of-function mutations in the pendrin gene
SLC26A4 … to that in the wild type (WT), as assessed by western blot analysis (Fig. 5a). The …

… MDCK II or HEK293T cells transfected with mock, wild type or mutated EphA2 constructs
were incubated with pre-clustered ephrin-A1 Fc and ephrin-B2 Fc for 0, 1, and 2 h at 37 C. The …

… analysis such as UCSC and OMIM databases were used. One of the common genetic
syndromes caused by mutations in … ions as well as the mutation in the SLC26A4 gene, which is …

… charge difference, and also impact the pendrin function due to position of the native residue
… analysis of wild type SLC26A4 showed 89% residues to lie in favored region versus mutant …