Pendred's syndrome is an autosomal recessive disease characterized by goiter, impaired iodide organification, and congenital sensorineural deafness. The gene mutated in Pendred's syndrome, PDS (Pendred's syndrome gene), was cloned very recently and encodes the putative sulfate transporter pendrin. Pendred's syndrome may account for up to 10% of the cases with hereditary hearing loss, and pendri...

Inactivation of the B1 proton pump subunit (ATP6V1B1) in intercalated cells (ICs) leads to type I distal renal tubular acidosis (dRTA), a disease associated with saltand potassium-losing nephropathy. Here we show that mice deficient in ATP6V1B1 (Atp6v1b1-/mice) displayed renal loss of NaCl, K+, and water, causing hypovolemia, hypokalemia, and polyuria. We demonstrated that NaCl loss originated ...

Pendrin (PDS) and sodium/iodide symporter (NIS) are transmembrane proteins that are located in numerous tissue types, particularly thyroid follicular epithelial cells, where they are entrusted with the regulation of iodine molecules. In the present study, we aimed to clarify changes in PDS and NIS protein expression, in the testicular tissue of prepubertal and <span la...

The renal collecting duct adapts to changes in acid-base metabolism by remodelling and altering the relative number of acid or alkali secreting cells, a phenomenon termed plasticity. Acid secretory A intercalated cells (A-IC) express apical H(+)-ATPases and basolateral bicarbonate exchanger AE1 whereas bicarbonate secretory B intercalated cells (B-IC) express basolateral (and apical) H(+)-ATPas...