… specifically occurring in the populations of the Middle East. Here we show the characterization
of the ion transport activity of three pendrin mutations previously found in deaf patients …

… Mutations of the pendrin gene can lead to syndromic and non-… Functional tests of mutated
pendrin allelic variants found in … The functional characterization of pendrin mutants led to the …

… mutation on intracellular localisation of pendrin, we evaluated trafficking of wild-type pendrin
and of the V239D mutant … of mutations in known versus unknown genes in the present study …

… mutation on intracellular localisation of pendrin, we evaluated trafficking of wild-type pendrin
and of the V239D mutant … of mutations in known versus unknown genes in the present study …

… pendrin fails to reach the plasma membrane [14]. Thus, the variable effect of each mutation
on pendrin function, … the available Slc26a4mouse models, with an emphasis on the inner ear. …

… mutations in known genes for NSHL in 14 families. In all families, the deafness-causing mutation
was present in … , a splice site mutation leading to a large in-frame deletion of the Pendrin/…

… However, we noticed that both mutations are located within helical domains that have a
constant length (21 amino acids) in the pendrin protein. So, we deduced that the size of the …

… Based on molecular and functional characterization of isoform-specific mouse models of the
… aqueduct characteristic of Pendred syndrome. Mutations with transcriptional effects were …

… Pendrin mutations are typically inherited as autosomal … variants found in the present study
were reported with Pendred … without having any characteristics of Pendred syndrome, this …

… the causative gene and mutation in a Palestinian family with congenital recessively … was
screened for all know mutations causing hearing loss among Palestinian populations. Then, her …