The phylogenetically ancient SLC26 gene family encodes multifunctional anion exchangers
and anion channels transporting a broad range of substrates, including Cl−, HCO3−, sulfate …

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

Thyroid hormone system disrupting compounds are considered potential threats for human
and environmental health. Multiple adverse outcome pathways (AOPs) for thyroid hormone …

Research in the genetics of hearing and deafness has evolved rapidly over the past years,
providing the molecular foundation for different aspects of the mechanism of hearing …

Pendred syndrome is an autosomal recessive disorder characterized by sensorineural
deafness, goiter and a partial defect in iodide organification. Goiter development and …

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

Iodide is captured by thyrocytes through the Na+/I− symporter (NIS) before being released
into the follicular lumen, where it is oxidized and incorporated into thyroglobulin for the …

Iodide transport and storage in the thyroid follicles is crucial for thyroid hormone synthesis.
Pendrin, the iodide exporter that transports iodide to thyroid follicles, is responsible for …

Mutations of SLC26A4 are among the most prevalent causes of hereditary deafness.
Deafness in the corresponding mouse model, Slc26a4−/−, results from an abnormally …

Enlargement of the vestibular aqueduct (EVA) is one of the most common inner ear
malformations associated with sensorineural hearing loss in children. The delayed onset …