Functional characterization of pendrin mutations found in the Israeli and Palestinian populations

S Dossena, C Nofziger, Z Brownstein… - Cellular Physiology and …, 2011 - karger.com
Background: Pendrin is a transport protein exchanging chloride for other anions, such as
iodide in the thyroid gland or bicarbonate in the inner ear. Mutations in the SLC26A4 gene …

Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA

A Pera, S Dossena, S Rodighiero… - Proceedings of the …, 2008 - National Acad Sciences
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural
hearing loss, with malformations of the inner ear, ranging from enlarged vestibular aqueduct …

Identification of allelic variants of pendrin (SLC26A4) with loss and gain of function

S Dossena, A Bizhanova, C Nofziger… - Cellular physiology and …, 2011 - karger.com
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 …

Molecular and functional characterization of human pendrin and its allelic variants

S Dossena, C Nofziger, G Tamma… - Cellular Physiology and …, 2011 - karger.com
Abstract Pendrin (SLC26A4, PDS) is an electroneutral anion exchanger transporting I-, Cl-,
HCO3-, OH-, SCN-and formate. In the thyroid, pendrin is expressed at the apical membrane …

Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome.

S Dossena, S Rodighiero, V Vezzoli… - Journal of molecular …, 2009 - europepmc.org
Pendred syndrome (PS) is the most frequent form of genetically related syndromic hearing
loss, and is associated with mutations of pendrin, encoded by the SLC26A4 gene. This …

[HTML][HTML] Reduction of cellular expression levels is a common feature of functionally affected pendrin (SLC26A4) protein variants

VCS de Moraes, E Bernardinelli, N Zocal… - Molecular …, 2016 - Springer
Sequence alterations in the pendrin gene (SLC26A4) leading to functionally affected protein
variants are frequently involved in the pathogenesis of syndromic and nonsyndromic …

Hypo‐Functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype‐phenotype correlation or …

BY Choi, AK Stewart, AC Madeo, SP Pryor… - Human …, 2009 - Wiley Online Library
Hearing loss with enlargement of the vestibular aqueduct (EVA) can be associated with
mutations of the SLC26A4 gene encoding pendrin, a transmembrane Cl−/I−/HCO …

Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain

C Bassot, G Minervini, E Leonardi, SCE Tosatto - Biochimie, 2017 - Elsevier
Abstract Human pendrin (SLC26A4) is an anion transporter mostly expressed in the inner
ear, thyroid and kidney. SLC26A4 gene mutations are associated with a broad phenotypic …

Salicylate restores transport function and anion exchanger activity of missense pendrin mutations

K Ishihara, S Okuyama, S Kumano, K Iida, H Hamana… - Hearing research, 2010 - Elsevier
The SLC26A4 gene encodes the transmembrane protein pendrin, which is involved in the
homeostasis of the ion concentration of the endolymph of the inner ear, most likely by acting …

The ESF Meeting on „The Proteomics, Epigenetics and Pharmacogenetics of Pendrin “

S Dossena, C Nofziger, F Lang, G Valenti… - Cellular Physiology and …, 2011 - karger.com
Abstract Human pendrin (SCL26A4, PDS) is a 780 amino acid integral membrane protein
with transport function. It acts as an electroneutral, sodium-independent anion exchanger for …