Role of Pendrin in Health and Disease

Role of Pendrin in Health and Disease

Molecular and Functional Aspects of the SLC26A4 Anion Exchanger

Dossena, Silvia; Paulmichl, Markus

Springer International Publishing AG

07/2018

226

Mole

Inglês

9783319827803

15 a 20 dias

496

Descrição não disponível.
Pendrin and the Pendrin Consortium.- Pendrin role in the inner ear.- Pendrin role in the thyroid and Pendred syndrome.- Pendrin role in the kidney and hypertension.- Interplay between Pendrin and other renal transport molecules.- Pendrin role in the airways: links with asthma and COPD.- Pendrin expression and function in non-conventional sites.- Transcriptional regulation and epigenetics of Pendrin.- Models for Pendrin structure.- Genetic diagnosis of deafness.- Functional and molecular properties of Pendrin allelic variants.- Potential pharmacological interventions for Pendrin dysfunction.
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Deafness;Enlarged Vestibular Aqueduct;Pendred syndrome;Pendrin;SLC26A4;Thyroid dysfunction