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 …
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
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural
hearing loss, with malformations of the inner ear, ranging from enlarged vestibular aqueduct …
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 …
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
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 …
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 …
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 …
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 …
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
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 …
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 …
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 “
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 …
with transport function. It acts as an electroneutral, sodium-independent anion exchanger for …