Deleterious mutations of SLC26A4 cause Pendred syndrome (PS), an autosomal recessive
disorder comprising goitre and deafness with enlarged vestibular aqueducts (EVA), and …

Background: Iodide uptake at the basolateral membrane and iodide efflux at the apical
membrane of thyrocytes, essential steps in the biosynthesis of thyroid hormone, are …

Pendred's syndrome is an autosomal-recessive disorder characterized by deafness and
goiter. After our recent identification of the human gene mutated in Pendred's syndrome …

A key function of the proximal tubule is retrieval of most of the vast quantities of NaCl and
water filtered by the kidney. Physiological studies using brush border vesicles and perfused …

Pendrin is expressed in the apical regions of type B and non-A, non-B intercalated cells,
where it mediates Cl− absorption and HCO3− secretion through apical Cl−/HCO3 …

The disease gene for Pendred syndrome has been recently characterized and named PDS.
It codes for a transmembrane protein called pendrin, which is highly expressed at the apical …

Mutations in the anion exchanger pendrin are responsible for Pendred syndrome, an
autosomal recessive disease characterized by deafness and goitre. Pendrin is highly …

Pendred syndrome (OMIM 274600) is an autosomal, recessive disorder defined by the triad
of congenital deafness, goiter, and positive perchlorate test. After the cloning of the Pendred …

Pendred syndrome is the most common form of syndromic deafness, characterized by
dyshormonogenic goiter associated with sensory-neural deafness. The gene responsible for …

Enlargement of the vestibular aqueduct (EVA) is a common inner ear malformation found in
children with sensorineural hearing loss that is frequently associated with loss-of-function or …