Background: Pendred syndrome (PS), a recessive disorder caused by mutations in the
SLC26A4 (PDS) gene, is associated with deafness and goiter. SLC26A4 mutations have …

Pendred syndrome and non-syndromic recessive deafness associated with enlarged
vestibular aqueduct (NSRD with EVA) are caused by mutations in the SLC26A4 (PDS) gene …

In 1896, Vaughan Pendred (fig. 1) described a combination of congenital deafness and
goitre that developed during puberty in 2 sisters [1]. In 1927, four new families were again …

Abstract Background/Aims: Pendrin is a Cl-/I-/HCO3-exchanger playing a fundamental role
in controlling blood pressure and airway function, therefore representing an attractive target …

Abstract Pendrin (SLC26A4) is an anion exchanger from the SLC26 transporter family which
is mutated in human patients affected by Pendred syndrome, an autosomal recessive …

Mutations in human SLC26A4 are a common cause of hearing loss associated with
enlarged vestibular aqueducts (EVA). SLC26A4 encodes pendrin, an anion-base exchanger …

Background Pendred syndrome, an autosomal-recessive disorder characterized by
deafness and goiter, is caused by a mutation of SLC26A4, which codes for the anion …

Background: Human pendrin (SLC26A4, PDS) is an integral membrane protein acting as an
electroneutral anion exchanger. Loss of function mutations in pendrin protein cause …

Thyroid hormones are essential for normal development and metabolism. Thyroid hormone
biosynthesis requires iodide uptake into the thyrocytes and efflux into the follicular lumen …

Mutations of SLC26A4 are a common cause of human hearing loss associated with
enlargement of the vestibular aqueduct. SLC26A4 encodes pendrin, an anion exchanger …