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Mutation in SLC26A4 gene is associated with deafness.
The functional and molecular defects of variant p.V577A of SLC26A4 appeared more severe in terms of loss in ion transport function, complete retention in the endoplasmic reticulum, and dramatic reduction of expression compatible with the pathological phenotype of the patient.
Hsc70 (show HSPA8 Proteins) and DNAJC14 are required for the unconventional trafficking of H723R-pendrin.
Increased pendrin density in early-onset preeclampsia could be a pathogenetic mechanism in or a part of the adaptational response to the development of the hypertension.
the reduced or complete loss of SLC26A4 function was the direct cause of hearing loss in the two patients.
genetical variations in SLC26A4 gene could play an important role in development of nonautoimmune adult hypothyroidism.
Compared with previous studies, we found that the c.109G>A mutation allele of GJB2 (show GJB2 Proteins) was relatively lower in the profound Chinese nonsyndromic sensorineural hearing loss population in comparison to the moderate-to-profound ones, and the c.1174A>T mutation allele of SLC26A4 was relatively higher.
the CEVA haplotype causally contributes to most cases of Caucasian M1 EVA (enlargement of the vestibular aqueduct) and, possibly, some cases of M0 EVA; the CEVA haplotype of SLC26A4 defines the most common allele associated with hereditary hearing loss in Caucasians
novel mutation c.2110G>C (p.Glu704Gln) in compound heterozygosity with c.1673 A>T (p.Asn558Ile) in the SLC26A4 gene corresponds to the EVA in this family
the evaluation of SLC26A4 CpG site methylation reflected an increased risk of presbycusis among the male participants.
The ablation of the Cl-/HCO3- exchanger Pendrin enhances the magnitude of salt wasting by hydrochlorothiazide (HCTZ).
Here, the authors show that the mouse endolymphatic sac (show ADCY10 Proteins) absorbs fluid in an SLC26A4-dependent fashion.
Acute genetic ablation of pendrin lowers blood pressure.
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.
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