Resistance to hypertension and high Cl− excretion in humans with SLC26A4 mutations
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 …
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 …
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 …
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
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 …
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 …
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 …
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 …
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 …
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 …
recent data support the linkage between pendrin expression and airway diseases, such as …