.... Pendred syndrome SLC26A4 Ion transport Epithelium Cell volume regulation The Lake Cumberland Biological Transport Group ( http://www.cumberlandbio.org/ ) was founded in 1966 and includes scientists interested in tissue and cellular ion transport. The Meeting of the Lake Cumberland Biological...

... vestibular aqueduct (EVA) and Mondini malformation (MM) of the cochlea. These malformations can be a clinical sign for Pendred syndrome. Methods: We screened CT scans of 75 cochlear implant patients for EVA and MM. Results: Six patients were observed to have either EVA alone (n=3), or MM alone (n=2...

... exert a role in pH homeostasis and regulation of blood pressure. Mutations of the pendrin gene can lead to syndromic and non-syndromic hearing loss with EVA (enlarged vestibular aqueduct). Functional tests of mutated pendrin allelic variants found in patients with Pendred syndrome or non-syndromic EVA...

... and airways. Loss or reduction in the function of pendrin results in both syndromic (Pendred syndrome) and non-syndromic (non-syndromic enlarged vestibular aqueduct (ns-EVA)) hearing loss. Factors inducing an up-regulation of pendrin in the kidney and the lung may have an impact on the pathogenesis...

..., instructions or products referred to in the content or advertisements. Interleukin Cytokine SLC26A4 Chronic obstructive pulmonary disease Mucus Pendred syndrome Sensorineural hearing loss Asthma Cellular Physiology and Biochemistry Review Cell Physiol Biochem 2011;28:571-578 Accepted: September...

...Aigerim Bizhanova; Peter Kopp Pendred syndrome is an autosomal recessive disorder defined by sensorineural deafness, goiter and a partial organification defect of iodide. It is caused by biallelic mutations in the multifunctional anion transporter pendrin/SLC26A4. In human thyroid tissue, pendrin...

... anomaly detected in ears of children with sensorineural hearing loss. Pendred syndrome (PS) is an autosomal recessive disorder characterized by bilateral sensorineural hearing loss with EVA and an iodine organification defect that can lead to thyroid goiter. Pendred syndrome is caused by mutations...

... for pendrin are responsible for both syndromic (Pendred syndrome) and non-syndromic (non-syndromic enlarged vestibular aqueduct, EVA) hearing loss. Besides clinical and radiological assessments, molecular and functional studies are essential for the correct diagnosis of Pendred syndrome and non-syndromic EVA...

... syndrome) and non-syndromic hearing loss with an enlarged vestibular aqueduct (ns-EVA). Pendred syndrome, the most common form of syndromic deafness, is an autosomal recessive disease characterized by sensorineural deafness due to inner ear malformations and a partial iodide organification defect that may...