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Molecular analysis of human solute carrier (show SERTAD2 Proteins) SLC26A2 (show SLC26A2 Proteins), SLC26A3 (show SLC26A3 Proteins), and SLC26A4 anion transporter disease-causing mutations using 3-dimensional homology modeling has been presented.
DFNB4 shows vestibular dysfunction, which is strongly linked to hearing loss at low frequencies without any allelic or anatomical predisposing factor
We performed simultaneous hearing screening and genetic screening targeting four common deafness mutations (p.V37I and c.235delC of GJB2 (show GJB2 Proteins), c.919-2A>G of SLC26A4, and the mitochondrial m.1555A>G) in 5173 newborns at a tertiary hospital between 2009 and 2015,We delineated the longitudinal auditory features of the highly prevalent GJB2 (show GJB2 Proteins) p.V37I mutation on a general population basis
A range of SLC26A4 variants without a common recurrent mutation underlies SLC26A4-related hearing loss in Turkey, Iran, and Mexico.
a later onset of hearing loss is usually related to EVA, in absence of SLC26A4 gene mutations
A novel SLC26A4 point mutation is associated with enlarge vestibular aqueduct syndrome.
results demonstrate that 19.2% patients with nonsyndromic deafness were caused by mutations in three common deafness genes (GJB2 (show GJB2 Proteins), SLC26A4 and 12S rRNA) in our northern China patient group
we hypothesize that SLC26A4 coding mutations are genetic causes for nonsyndromic hearing impairment in patients bearing heterozygous GJB2 (show GJB2 Proteins) 35delG mutations.
Ears with EVA and zero or one mutant allele of SLC26A4 have less severe hearing loss, no difference in prevalence of fluctuation, and a lower prevalence of cochlear implantation in comparison to ears with two mutant alleles of SLC26A4.
These studies implicate the involvement of pendrin-facilitated chloride-bicarbonate exchange in the regulation of airway surface liquid volume and suggest the utility of pendrin inhibitors in inflammatory lung diseases.
Data, including data from studies using transgenic mice, suggest that over-expression of IL4 (interleukin 4) in thyroid tissue/cells up-regulates expression of Duox1 (dual oxidase 1), Duoxa1 (dual oxidase maturation factor 1), and Slc26a4 (pendrin) in thyroid tissue/cells; expression of Slc5a5 (sodium-iodide symporter) is down-regulated.
Study showed that early re-induction of Slc26a4 expression can prevent fluctuation of hearing in our Slc26a4-insufficient mouse model. Restoration of SLC26A4 expression and function could reduce or prevent fluctuation of hearing in enlargement of the vestibular aqueduct patients.
decreased plasma K(+) levels promote pendrin induction by aldosterone, which, in concert with Na(+)-Cl(-) cotransporter (show SLC12A3 Proteins), counteracts the progression of hypokalemia but promotes hypertension in primary aldosterone excess.
The strial dysfunction and degeneration are the primary causes of irreversible progressive hearing loss in our Slc26a4-insufficient mouse model of vestibular aqueduct syndrome.
The Role of Epithelial Sodium Channel ENaC (show SCNN1A Proteins) and the Apical Cl-/HCO3- Exchanger Pendrin in Compensatory Salt Reabsorption in the Setting of Na-Cl Cotransporter (NCC (show SLC12A3 Proteins)) Inactivation.
Pendrin is expressed in the adrenal medulla, where it blunts stress-induced catecholamine release.
Pendrin gene ablation reduced ENaC (show SCNN1A Proteins)-mediated Na(+) absorption by reducing channel open probability as well as by reducing channel density through changes in subunit total protein abundance and subcellular distribution.
The result provides insight into the role of Na+ transport in the development and regulation of endolymphatic hydrops due to pendrin mutations.
Insufficient availability of thyroid hormone (show PTH Proteins) during inner ear development plays an important role in the mechanism underlying deafness as a result of SLC26A4 mutations.
Together these data suggest that pertussis toxin contributes to pertussis pathology through the upregulation of pendrin, which promotes conditions favoring inflammatory pathology.
Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene\; they have similar genomic structures and this gene is located 3' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters.
Pendred syndrome homolog
, sodium-independent chloride/iodide transporter
, solute carrier family 26, member 4
, Pendred's syndrome