Pendred syndrome is an autosomal recessive disorder that is classically defined by the
combination of sensorineural deafness/hearing impairment, goiter, and an abnormal …

Bicarbonate is one of the major anions in mammalian tissues and fluids, is utilized by
various exchangers to transport other ions and organic substrates across cell membranes …

Bicarbonate transporters play essential roles in pH homeostasis in mammals and
photosynthesis in aquatic photoautotrophs. A number of bicarbonate transporters have been …

Hearing impairments are the most common symptom of congenital defects, and they
generally remain intractable to treatment. Pendred syndrome, the most frequent syndromic …

Autoimmune thyroid disease (AITD) refers to a spectrum of various diseases, with two
extremes of clinical presentation, hypothyroidism (Hashimoto's thyroiditis (HT) and …

Enlarged vestibular aqueduct (EVA) is one of the most commonly identified inner ear
malformations in hearing loss patients including Pendred syndrome. While biallelic …

Primary congenital hypothyroidism (CH) is the most common endocrine disease in children
and one of the most common preventable causes of both cognitive and motor deficits. CH is …

Abstract Pendrin (SLC26A4) is an anion exchanger expressed in the apical membranes of
selected epithelia. Pendrin ablation causes Pendred syndrome, a genetic disorder …

Background: Several members of the SLC26A family of transporters, including SLC26A3
(DRA), SLC26A5 (prestin), SLC26A6 (PAT-1; CFEX) and SLC26A9, form multi-protein …

Background: Pendrin is a multifunctional anion transporter that exchanges chloride and
iodide in the thyroid, as well as chloride and bicarbonate in the inner ear, kidney and …