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 …
sensorineural hearing loss, often associated with mild thyroid dysfunction and goiter. It is …
Functional characterization of wild-type and a mutated form of SLC26A4 identified in a patient with Pendred syndrome
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 …
associated with mild thyroid dysfunction and goiter. It is assumed that SLC26A4 acts as a …
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 …
chloride with other anions, therefore being responsible for iodide organification in the thyroid …
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 …
underlying the deafness and thyroid pathology in Pendred syndrome (PS) remained …
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 …
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 …
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 …
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 …
Hereditary hearing loss with thyroid abnormalities
BY Choi, J Muskett, KA King, CK Zalewski… - Medical Genetics in the …, 2011 - karger.com
Mutations in SLC26A4 can cause deafness and goiter in Pendred syndrome (PDS) or
isolated non-syndromic enlargement of the vestibular aqueduct (NSEVA). PDS is one of the …
isolated non-syndromic enlargement of the vestibular aqueduct (NSEVA). PDS is one of the …
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 …