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 …
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 …
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 …
[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 …
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 …
DOCA sensitive pendrin expression in kidney, heart, lung and thyroid tissues
Abstract Background/Aims: Pendrin (SLC26A4), a transporter accomplishing anion
exchange, is expressed in inner ear, thyroid gland, kidneys, lung, liver and heart. Loss or …
exchange, is expressed in inner ear, thyroid gland, kidneys, lung, liver and heart. Loss or …
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 …
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 …
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 …
Pendrin function in airway epithelia
C Nofziger, S Dossena, S Suzuki, K Izuhara… - Cellular Physiology and …, 2011 - karger.com
The expression and function of the anion exchanger pendrin (SLC26A4) was thought to be
limited mainly to the inner ear, kidney and thyroid. Recent data indicates that pendrin is also …
limited mainly to the inner ear, kidney and thyroid. Recent data indicates that pendrin is also …