Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss.
Sign Up to like & getrecommendations! Published in 2021 at "Human genetics"
DOI: 10.1007/s00439-021-02311-1
Abstract: Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a transmembrane exchanger of anions and bases. The mutant SLC26A4 phenotype is characterized by… read more here.
Keywords: genetic architecture; slc26a4; hearing loss; pendred syndrome ... See more keywords
A knock-in mouse model of Pendred syndrome with Slc26a4 L236P mutation.
Sign Up to like & getrecommendations! Published in 2019 at "Biochemical and biophysical research communications"
DOI: 10.1016/j.bbrc.2019.05.157
Abstract: SLC26A4 gene mutations lead to Pendred syndrome and non-syndromic hearing loss (DFNB4). The mouse model is well used to study the pathology of Pendred syndrome, however, mice with different Slc26a4 mutations exhibit different phenotypes, and… read more here.
Keywords: pendred syndrome; slc26a4; mouse model; mouse ... See more keywords
SLC26A4 Mutation Promotes Cell Apoptosis by Inducing Pendrin Transfer, Reducing Cl− Transport, and Inhibiting PI3K/Akt/mTOR Pathway
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DOI: 10.1155/2022/6496799
Abstract: Objective Pendrin is encoded by SLC26A4, which is expressed in the apical membrane of inner ear epithelial cells and drives chloride reabsorption in the apical septum. In the inner ear, pendrin dysfunction and hypofunctional mutations… read more here.
Keywords: slc26a4; pi3k akt; pendrin; akt mtor ... See more keywords
SLC26A4 Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13122192
Abstract: SLC26A4 is one of the most common genes causing autosomal recessive non-syndromic sensorineural hearing loss (SNHL). It has been reported to cause Pendred Syndrome (PDS) and DFNB4 which is deafness with enlarged vestibular aqueduct (EVA).… read more here.
Keywords: slc26a4; diagnosis; variability; management ... See more keywords