Effects of salicylate derivatives on localization of p. H723R allele product of SLC26A4
M Murakoshi, Y Koike, S Koyama, S Usami, K Kamiya… - Auris Nasus …, 2022 - Elsevier
Objective Pendrin is a transmembrane protein encoded by the SLC26A4 gene that functions
in maintaining ion concentrations in the endolymph of the inner ear, most likely by acting as …
in maintaining ion concentrations in the endolymph of the inner ear, most likely by acting as …
Genotype–phenotype correlations for SLC26A4-related deafness
H Azaiez, T Yang, S Prasad, JL Sorensen… - Human genetics, 2007 - Springer
Pendred syndrome (PS) and non-syndromic enlarged vestibular aqueduct (EVA) are two
recessive disorders characterized by the association of sensorineural hearing loss (SNHL) …
recessive disorders characterized by the association of sensorineural hearing loss (SNHL) …
Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger
Q Liu, X Zhang, H Huang, Y Chen, F Wang… - Nature …, 2023 - nature.com
Abstract Pendrin (SLC26A4) is an anion exchanger expressed in the apical membranes of
selected epithelia. Pendrin ablation causes Pendred syndrome, a genetic disorder …
selected epithelia. Pendrin ablation causes Pendred syndrome, a genetic disorder …
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 …
Epithelial cell stretching and luminal acidification lead to a retarded development of stria vascularis and deafness in mice lacking pendrin
HM Kim, P Wangemann - PloS one, 2011 - journals.plos.org
Loss-of-function mutations of SLC26A4/pendrin are among the most prevalent causes of
deafness. Deafness and vestibular dysfunction in the corresponding mouse model …
deafness. Deafness and vestibular dysfunction in the corresponding mouse model …
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 …
Slc26a4 expression prevents fluctuation of hearing in a mouse model of large vestibular aqueduct syndrome
A Nishio, T Ito, H Cheng, TS Fitzgerald, P Wangemann… - Neuroscience, 2016 - Elsevier
SLC26A4 mutations cause fluctuating and progressive hearing loss associated with
enlargement of the vestibular aqueduct (EVA). SLC26A4 encodes a transmembrane anion …
enlargement of the vestibular aqueduct (EVA). SLC26A4 encodes a transmembrane anion …
Molecular Features of SLC26A4 Common Variant p. L117F
A Matulevičius, E Bernardinelli, Z Brownstein… - Journal of Clinical …, 2022 - mdpi.com
The SLC26A4 gene, which encodes the anion exchanger pendrin, is involved in
determining syndromic (Pendred syndrome) and non-syndromic (DFNB4) autosomal …
determining syndromic (Pendred syndrome) and non-syndromic (DFNB4) autosomal …
Mechanism of anion exchange and small-molecule inhibition of pendrin
Abstract Pendrin (SLC26A4) is an anion exchanger that mediates bicarbonate (HCO3−)
exchange for chloride (Cl−) and is crucial for maintaining pH and salt homeostasis in the …
exchange for chloride (Cl−) and is crucial for maintaining pH and salt homeostasis in the …