作者
Silvia Dossena, Aigerim Bizhanova, Charity Nofziger, Emanuele Bernardinelli, Josef Ramsauer, Peter Kopp, Markus Paulmichl
发表日期
2011/11/18
来源
Cellular physiology and biochemistry
卷号
28
期号
3
页码范围
467-476
出版商
S. Karger AG
简介
Background: Pendrin is a multifunctional anion transporter that exchanges chloride and iodide in the thyroid, as well as chloride and bicarbonate in the inner ear, kidney 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 of hypertension, chronic obstructive pulmonary disease (COPD) and asthma. Here we characterize the ion transport activity of wild-type (WT) pendrin and seven of its allelic variants selected among those reported in the single nucleotide polymorphisms data base (dbSNPs), some of which were previously identified in a cohort of individuals with normal hearing or deaf patients belonging to the Spanish population. Methods: WT and mutated …
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S Dossena, A Bizhanova, C Nofziger, E Bernardinelli… - Cellular physiology and biochemistry, 2011