Ontology highlight
ABSTRACT:
SUBMITTER: Wangemann P
PROVIDER: S-EPMC7077107 | biostudies-literature | 2011
REPOSITORIES: biostudies-literature
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 20111118 3
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 hypo-function mutations of SLC26A4. SLC26A4 codes for pendrin, which is a protein that is expressed in apical membranes of selected epithelia and functions as an anion exchanger. The comparatively high prevalence of EVA provides a strong imperative to develop rational interventions that delay, ameliorate or preven ...[more]