The expression of wild-type pendrin (SLC26A4) in human embryonic kidney (HEK 293 Phoenix) cells leads to the activation of cationic currents

S Dossena, A Maccagni, V Vezzoli… - European journal of …, 2005 - academic.oup.com
Abstract Objective The SLC26A4 protein (pendrin) seems to be involved in the exchange of
chloride with other anions, therefore being responsible for iodide organification in the thyroid …

Fast fluorometric method for measuring pendrin (SLC26A4) Cl-/I-transport activity

S Dossena, S Rodighiero, V Vezzoli… - Cellular Physiology and …, 2006 - karger.com
Malfunction of the SLC26A4 protein leads to Pendred syndrome, characterized by
sensorineural hearing loss, often associated with mild thyroid dysfunction and goiter. It is …

DOCA sensitive pendrin expression in kidney, heart, lung and thyroid tissues

L Pelzl, T Pakladok, G Pathare, H Fakhri… - Cellular Physiology and …, 2012 - karger.com
Abstract Background/Aims: Pendrin (SLC26A4), a transporter accomplishing anion
exchange, is expressed in inner ear, thyroid gland, kidneys, lung, liver and heart. Loss or …

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 …

Genetics and phenomics of Pendred syndrome

A Bizhanova, P Kopp - Molecular and cellular endocrinology, 2010 - Elsevier
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural
deafness, goiter and a partial defect in iodide organification. Goiter development and …

Functional characterization of wild-type and a mutated form of SLC26A4 identified in a patient with Pendred syndrome

S Dossena, V Vezzoli, N Cerutti, C Bazzini… - Cellular Physiology and …, 2006 - karger.com
Background: Malfunction of the SLC26A4 protein leads to prelingual deafness often
associated with mild thyroid dysfunction and goiter. It is assumed that SLC26A4 acts as a …

New insights into the role of pendrin (SLC26A4) in inner ear fluid homeostasis

LA Everett - Epithelial Anion Transport in Health and Disease …, 2006 - Wiley Online Library
For over 100 years after the first description of the disorder, the molecular pathology
underlying the deafness and thyroid pathology in Pendred syndrome (PS) remained …

Pendred syndrome

JL Wémeau, P Kopp - Best Practice & Research Clinical Endocrinology & …, 2017 - Elsevier
Pendred syndrome is an autosomal recessive disorder that is classically defined by the
combination of sensorineural deafness/hearing impairment, goiter, and an abnormal …

High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional …

L Fugazzola, V Cirello, S Dossena… - European journal of …, 2007 - academic.oup.com
Objective Pendred syndrome (PS) is characterized by the association of sensorineural
hearing loss (SNHL) and a partial iodide organification defect at the thyroid level. It is …

Clinical and molecular characteristics of Pendred syndrome

P Kopp, A Bizhanova - Annales d'endocrinologie, 2011 - Elsevier
Pendred syndrome is an autosomal recessive disorder defined by sensorineural deafness,
goiter and a partial defect in the organification of iodide. It is caused by biallelic mutations in …