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 …

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 …

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 …

Pendrin: physiology, molecular biology and clinical importance

R Grimaldi, P Capuano, N Miranda… - Giornale italiano di …, 2007 - europepmc.org
Pendrin, first identified in 1997, belongs to a superfamily of anion transporters localized in
the thyroid gland, inner ear and kidney. Immunohistochemical studies have shown that …

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 …

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 …

Functional characterization of pendrin in a polarized cell system: evidence for pendrin-mediated apical iodide efflux

MP Gillam, AR Sidhaye, EJ Lee, J Rutishauser… - Journal of Biological …, 2004 - ASBMB
Pendred's syndrome is an autosomal recessive disorder characterized by sensorineural
deafness, goiter, and impaired iodide organification. It is caused by mutations in the …

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 …