The pendrin polypeptide

S Dossena, E Bernardinelli, AK Sharma… - The Role of Pendrin in …, 2017 - Springer
Abstract Pendrin (SLC26A4) is an electroneutral anion exchanger in which function-altering
mutations cause inherited forms of non-syndromic (DFNB4) and syndromic deafness …

Resistance to hypertension and high Cl excretion in humans with SLC26A4 mutations

BG Kim, TH Yoo, JE Yoo, YJ Seo, J Jung… - Clinical …, 2017 - Wiley Online Library
Pendrin is a membrane transporter encoded by solute carrier family26A4 (SLC26A4).
Mutations in this gene are known to cause hearing loss, and recent data from animal studies …

Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4 …

DA Scott, R Wang, TM Kreman… - Human Molecular …, 2000 - academic.oup.com
The PDS gene encodes a transmembrane protein, known as pendrin, which functions as a
transporter of iodide and chloride. Mutations in this gene are responsible for Pendred …

Pendrin Function and Regulation in Xenopus Oocytes

FR Reimold, JF Heneghan, AK Stewart… - Cellular Physiology and …, 2011 - karger.com
Abstract SLC26A4/PDS mutations cause Pendred Syndrome and non-syndromic deafness.
but some aspects of function and regulation of the SLC26A4 polypeptide gene product …

Correlation between genotype and phenotype in patients with bi‐allelic SLC26A4 mutations

HJ Lee, J Jung, JW Shin, MH Song, SH Kim… - Clinical …, 2014 - Wiley Online Library
Mutation of SLC26A4 is the most common cause of prelingual hearing loss in East Asia.
Patients with SLC26A4 mutations have variable phenotypes ranging from non‐syndromic …

SLC26A4 variations among Graves' hyper-functioning thyroid gland

H Hadj-Kacem, R Kallel, S Belguith-Maalej… - Disease …, 2010 - content.iospress.com
Deleterious mutations of SLC26A4 cause Pendred syndrome (PS), an autosomal recessive
disorder comprising goitre and deafness with enlarged vestibular aqueducts (EVA), and …

[HTML][HTML] Identification of SLC26A4 c. 919-2A> G compound heterozygosity in hearing-impaired patients to improve genetic counseling

Q Li, Q Zhu, Y Yuan, S Huang, D Han, D Huang… - Journal of Translational …, 2012 - Springer
Background Mutations in the SLC26A4 gene, which encodes the anion transporter, pendrin,
are a major cause of autosomal recessive non-syndromic hearing loss (NSHL) in some …

[HTML][HTML] Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism

C Fu, H Zheng, S Zhang, Y Chen, J Su… - … of endocrinology and …, 2016 - SciELO Brasil
Objective Pendred syndrome (PS) is an autosomal recessive disorder characterised by
sensorineural hearing loss and thyroid dyshormonogenesis. It is caused by biallelic …

A Novel mutation in the SLC26A4 gene in a Chinese family with Pendred syndrome

CJ Huang, TH Lei, WL Chang, TY Tu, AS Shiao… - International journal of …, 2013 - Elsevier
Objective To investigate the mutations in the SLC26A4 gene in a Chinese patient with
Pendred syndrome. Methods The diagnosis of Pendred syndrome was confirmed by the …

Thick airway surface liquid volume and weak mucin expression in pendrin‐deficient human airway epithelia

HJ Lee, JE Yoo, W Namkung, HJ Cho… - Physiological …, 2015 - Wiley Online Library
Pendrin is an anion exchanger whose mutations are known to cause hearing loss. However,
recent data support the linkage between pendrin expression and airway diseases, such as …