Thanks to the advent of rapid DNA sequencing technology and its prevalence, many
disease‐associated genetic variants are rapidly identified in many genes from patient …

Recessive mutations in the SLC26A4 gene are a common cause of hereditary hearing
impairment worldwide. Previous studies have demonstrated that different SLC26A4 …

The human gene SLC26A4 and the mouse ortholog Slc26a4 code for the protein pendrin,
which is an anion exchanger expressed in apical membranes of selected epithelia. In the …

While age-related auditory deficits and cochlear alterations are well described, those
affecting the vestibular sensory organs and more broadly the central vestibular pathways are …

Members of the solute carrier 26 (SLC26) family have emerged as important players in
mediating anions fluxes across the plasma membrane of epithelial cells, in cooperation with …

The expression and function of the anion exchanger pendrin (SLC26A4) was thought to be
limited mainly to the inner ear, kidney and thyroid. Recent data indicates that pendrin is also …

Abstract Background Mutations in SLC26A4 cause Pendred syndrome (hearing loss with
goiter) or DFNB4 (non-syndromic hearing loss with inner ear malformation, such as …

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 …

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 …