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 …
Integration of human and mouse genetics reveals pendrin function in hearing and deafness
AA Dror, Z Brownstein, KB Avraham - Cellular Physiology and …, 2011 - karger.com
Genomic technology has completely changed the way in which we are able to diagnose
human genetic mutations. Genomic techniques such as the polymerase chain reaction …
human genetic mutations. Genomic techniques such as the polymerase chain reaction …
Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease‐associated variants
K Wasano, S Takahashi, SK Rosenberg… - Human …, 2020 - Wiley Online Library
Thanks to the advent of rapid DNA sequencing technology and its prevalence, many
disease‐associated genetic variants are rapidly identified in many genes from patient …
disease‐associated genetic variants are rapidly identified in many genes from patient …
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 …
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 …
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 …
Heterogeneity in the processing defect of SLC26A4 mutants
JS Yoon, HJ Park, SY Yoo, W Namkung… - Journal of medical …, 2008 - jmg.bmj.com
Background: Mutations in the SLC26A4 gene are responsible for Pendred syndrome and
non-syndromic hearing loss (DFNB4). This study analysed non-synonymous SLC26A4 …
non-syndromic hearing loss (DFNB4). This study analysed non-synonymous SLC26A4 …
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 …