… Testing of the function of pendrin variants found in deaf … for the East Asian population founder
mutation p.H723R, as well … pendrin-linked hearing loss, we characterized the ion transport …

… in Palestine" is my own original work, and hereby certify that unless stated, all work contained
… Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). …

… Here, we present a new model of human pendrin structure … Thus, functional evaluation of
mutant pendrin polypeptides in … aimed at its functional characterization, pendrin has repeatedly …

… the same mutation that we detected previously in two other Azeri families. The results of
haplotype analysis showed that all 15 patients from four families shared the founder mutation. …

… Further analysis, using a stable cell line, successfully confirmed the altered splicing pattern.
Expression of an isoform with intron retention was seen in the mutated cells but there was no …

… The functional mechanism of the pendrin protein varies in … , the S448X mutation in pendrin
was first discovered by our … and function of S448X revealed that S448X mutant proteins were …

… a predicted model of the pendrin protein, and to characterize novel mutations by means of
… The SLC26A4 gene, located on the long arm of chromosome 7, encodes pendrin, a protein …

… gene and mutation in a Palestinian family with … (a) mutation(s) responsible for hearing loss
in this family after excluding all known deafness causing mutations in Palestinian population …

… Similarly, a missense mutation in GATA3 was present in a … Mutations of the PDS gene,
encoding pendrin, are associated … iodide efflux: implications for thyroid dysfunction in Pendred …

… ’s mutations in family DE are family specific and no mutations in this … mutations in this
gene are found in the Palestinian deaf community; we carried out linkage exclusion analysis…