Property Summary

NCBI Gene PubMed Count 221
PubMed Score 426.85
PubTator Score 424.20

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Expression

  Differential Expression (16)

Disease log2 FC p
astrocytoma -1.100 5.4e-25
glioblastoma -2.100 2.1e-05
oligodendroglioma -1.100 2.5e-15
ependymoma -1.200 1.8e-06
atypical teratoid / rhabdoid tumor -2.200 2.3e-08
medulloblastoma -1.800 7.2e-04
medulloblastoma, large-cell -2.400 1.5e-03
primitive neuroectodermal tumor -1.900 1.0e-02
pediatric high grade glioma -1.100 6.3e-03
Endometriosis 1.254 4.5e-02
ulcerative colitis 1.600 4.4e-02
chronic rhinosinusitis 2.736 1.1e-02
cystic fibrosis and chronic rhinosinusit... 3.707 2.1e-04
head and neck cancer and chronic obstruc... 1.900 7.0e-03
non-small cell lung cancer 2.600 3.5e-03
psoriasis 2.200 9.4e-61

 GWAS Trait (1)

Gene RIF (204)

PMID Text
27082237 Mutations in RAI1, OTOF, and SLC26A4 may have roles in nonsyndromic hearing loss in Altaian families in Siberia
26663044 Data suggest that ombined hearing screening and genetic screening of gap junction protein beta 2 (GJB2), mtDNA 12srRNA and solute carrier family 26, member 4 protein SLC26A4 mutations can improve the rate of detection.
26549381 A homozygous c.-2071_307+3801del7666 deletion of SLC26A4 was identified in patient D1467-1. This novel genomic deletion was subsequently identified in 18% (4/22) of the Chinese Han EVA probands.
26397989 GJB2 and SLC26A4 mutations are associated with good post-implant outcomes.
26313899 Anoctamin and pendrin are two plausible candidates as mediators of apical iodide efflux--{review}
26285906 Data suggest that SLC26A4, SLC5A5 (sodium-iodide symporter), and SLC5A8 (sodium-coupled monocarboxylate transporter 1), the 3 known iodide transporters, are important in breast tissue metabolism in lactation and in breast neoplasms. [REVIEW]
26252218 exon sequencing of GJB2, SLC26A4, and mtDNA12SrRNA reveals that non-syndromic deafness in Xiamen, China appears to have a genetic etiology
26188157 An absence of GJB6 mutations and low frequency of SLC26A4 mutations suggest that additional genetic factors may contribute to nonsyndromic hearing loss in India.
26143180 Increased expression of the epithelial anion transporter pendrin/SLC26A4 in nasal polyps of patients with chronic rhinosinusitis
26100058 Presence of mono-allelic mutations of SLC26A4 in non-syndromic enlarged vestibular aqueduct patients is etiologically associated with this disorder.
26037344 Mutations in 12S rRNA, SLC26A4, GJB2 and GJB3 are highly associated with deafness.
26035154 codon 723 was a hot-spot region in SLC26A4 with a significant impact on the structure and function of pendrin, and acted as one of the genetic factors responsible for the development of hearing loss.
26022370 We report a case in which whole-exome sequencing in a patient previously suspected to have Usher syndrome revealed disease-causing mutations in BBS1 and SLC26A4.
25999548 The mutation spectrum of SLC26A4 genes, one of the 2 most common genes causing deafness, is known to be ethnic specific.
25885414 c.1331+2T>C was found in 12 homozygous hearing-impaired Roma patients, more frequently in Hungarian than in Slovak patients. The identified common haplotype was defined by 18 SNPs. 14 common SNPs were shared among Pakistani and Roma homozygotes.
25761933 The prevalence of SLC26A4 mutations was 12.39%, 8.84%, and 8.57% in Han Chinese, Hui people, and Tibetan participants, respectively. The c.919-2 A>G mutation was the most common form, accounting for 60.47% of all SLC26A4 mutant alleles.
25724631 SLC26A4 variants were identified as a possible link to congenital hearing impairment.
25493717 The proportions of ethnic minorities and urban subjects could impact the frequency of the GJB2 and mtDNA mutations. The SLC26A4 hotspot mutations are prevalent and correlate strongly with EVA.
25488846 the auditory phenotype of Korean bilateral enlargement of vestibular aqueduct patients is more strongly correlated with the type rather than the number of mutations in SLC26A4
25468468 We experienced a congenitally deaf 6-year-old boy with a rare p.Thr410Met homozygous mutation in SLC26A4
25390158 Together, the investigated markers could be suggested as powerful tools for linkage analysis of SLC26A4 gene mutations in the Iranian population.
25358692 p.V510D mutant product was shown to be entrapped in the endoplasmic reticulum (ER) and not trafficked to the plasma membrane, suggesting retention in the ER and abnormal trafficking as the pathogenic mechanism of sensorineural hearing loss.
25290043 Our results confirm the role of the gene in pathogenesis of hearing loss in Iran and might provide an insight into some prevalent mutations that are worth being prioritized in molecular diagnostics of HL.
25251670 Contribution of GJB2, SLC26A4, and MTRNR1 mutations to Mild-to-Moderate childhood hearing impairment in Chinese Hans.
25239229 Based on the results of our two studies, the c.965insA mutation has only been described in Iranian families from northwest Iran, so there is evidence for a founder mutation originating in this part of Iran.
25015771 Mutations in SLC26A4 was the most common causes of the Uyghur consanguineous deaf families
24941117 pathogenic allele frequency of the Dongxiang group lower than that of the ethnic Han group
24804242 The prevalence of SLC26A4 mutations was 14.3%, 12.8%, and 1.6% in Han Chinese, Hui people, and Uyghur participants, respe
24737404 Mutation analysis of SLC26A4 demonstrated that 13.6% (24/176) of patients carried at least one mutant allele.
24599119 Our mutation analysis confirmed the importance of mutations in the SLC26A4 gene among hearing loss patients with enlarged vestibular aqueduct and revealed the mutation spectrum, essential information when performing genetic testing.
24429829 Of the two N4 GAS motifs located in the human pendrin promoter region analyzed in this study (nucleotides -3906 to +7), only the one located nearest to the first coding ATG participates in IL-4 stimulated increases in promoter activity.
24429826 Trafficking to the plasma membrane is critical in the regulation of pendrin activity.
24341454 based on either genetic screening or family history; 17.45%, 9.79%, and 8.51% of the patients were determined to have inherited hearing impairment caused by GJB2, SLC26A4, and mtDNA 1555A > G mutations
24338212 Families with SLC26A4 mutations other than H723R homozygous mutations demonstrated more phenotypic variability, especially in those carrying IVS7-2A>G splice site mutation.
24248179 Identification of SLC26A4 mutations that were hitherto diagnosed in thyroid dyshormonogenesis patients, now for the first time in patients with structural thyroid defects.
24245694 The subjects carrying biallelic mutations in the SLC26A4 gene have Pendred syndrome, i.e. usually hereditary hearing loss
24224479 Mutation screening revealed two SLC26A4 mutant alleles in all 19 Pendred syndrome patients that were homozygous in two families and compound heterozygous in 12 families.
24105851 SLC26A4 mutations were detected in almost all subjects with aperture, aperture and midpoint, and midpoint enlargement. In contrast, 71% of subjects with borderline enlargement had no SLC26A4 mutation.
24051746 Unilateral enlargement of the vestibular aqueduct can be associated with SLC26A4 genotype results.
24007330 There is a correlation between the degree of residual hearing and the SLC26A4 genotype commonly found in the East Asian population.
23965030 We found no evidence for a significant association between mutations of KCNJ10 and FOXI1 with SLC26A4 in Pendred syndrome/enlarged vestibular aqueducts.
23958391 Sensorineural hearing loss has an increased mutation of SLCA26A4 gene in Asian population, especially in Chinese.(review)
23941406 may play a role in the mechanism of severe hypertension in women with pre-eclampsia
23874234 pendrin expression is required for embryonic development but not for the maintenance of hearing opens the prospect that a spatially and temporally limited therapy will restore normal hearing in human patients carrying a variety of mutations of SLC26A4.
23838540 Pendred syndrome can be caused by compound heterozygous mutation in the SLC26A4 gene.
23834103 Mutant allele frequency of SLC26A4 in Tibetan, Tu nationality, and Mongolian subjects was 4.54%, 6.12%, and 15.79% respectively; p.IVS7-2A>G was the most common form.
23815884 SLC26A4 protein point mutation is highly responsible for the hearing loss in newborns.
23770805 Hearing loss was found to co-segregate with locus-specific STR markers for SLC26A4 in 1 Pakistani family.
23766534 chloride/bicarbonate exchanger pendrin plays a major role in controlling net NaCl absorption, thereby influencing BP under conditions of high salt intake.
23755160 The results indicated not only the p.H723R allele was non-pathogenic in mice, but also a single p.H723R allele was sufficient to maintain normal inner ear physiology in heterozygous compound mice.
23705809 No correlations between the type of SLC26A4 mutation and hearing levels or the thyroid phenotype was found.
23638949 six missense substitutions (p.V163L, p.G222S, p.A456D, p.N457I, p.C466Y, p.F667L), one nonsense mutation (p.W472X), and one frameshift (p.Asn612Ilefsx23) associated with hearing loss
23504402 inactivating SLC26A4 mutations that cause profound deafness can also be involved in the etiology of moderate to severe hearing loss
23452581 Longer alleles of intron 10 of SLC26A4 gene is associated with hashimoto thyroiditis disease.
23401162 Patients with bilateral EVA and SLC26A4 mutations had a higher rate of progression than patients who had no mutations
23385134 results emphasize the necessity of considering the complete DNA sequencing of the SLC26A4 gene in molecular diagnosis of deafness, especially when phenotypes such as congenital, invariable, and progressive hearing loss with enlarged vestibular aqueduct are present.
23336812 novel SLC26A4 mutations in 109 Danish Pendred syndrome
23296490 Patients with SLC26A4-related deafness were shown to benefit from cochlear implantation.
23280318 this analysis of SLC26A4 sequence variations suggested a distinct genetics basis between Hashimoto's thyroiditis and Graves' disease patients
23273637 The SLC26A4 mutations have a high carrying rate in non-syndromic hearing loss Brazilian patients.
23246836 This is the first case of a synonymous SNP (c.1803G>A) in SLC26A4 affecting vestibulocochlear organs through altering splicing accuracy by causing a complete skipping of exon 16.
23185506 Our results suggest that the pathogenesis underlying hearing loss in patients with EVA is the result of reduced membrane expression and the decreased transport activity of the mutant pendrins(SLC26A4).
23174149 NIS and pendrin were present in early human trophoblast at the maternofetal interface. Their expression was modulated with in vitro trophoblast differentiation.
23151031 Case Report: mutation analysis identified a compound heterozygous mutation (c.919A>G/c.1548insC) in SLC26A4 in two Chinese siblings with Pendred syndrome.
22924538 We report an unusual case of palmoplantar lichen planus (LP) presenting with sensorineural deafness, associated with a mutation in the SLC26A4 gene.
22918213 Production of pendrin and periostin is upregulated in allergic rhinitis, chronic rhinosinusitis with nasal polyps, and aspirin-induced asthma.
22906308 A novel SLC26A4 c.662_663insG mutation was detected in compound heterozygosity with IVS7-2A>G.
22884721 Insertion-induced frameshift mutation of the SLC26A4 gene is associated with Pendred syndrome.
22796198 IVS7-2A>G, 2168A>G and 1229C>T were the most frequent SLC26A4 gene mutations identified in Chinese sporadic nonsyndromic hearing-impaired children.
22750442 Rma1, an E3 ubiquitin ligase localized in the ER membrane, is involved in Pendrin degradation
22717225 The IVS2+1delG and K590X mutations have not yet been described in literature but there is some evidence to suggest that they have a pathological role in hearing loss.
22551242 Copy number variations and the exon deletion in SLC26A4 are not important factors in non-syndromic enlarged vestibular aqueduct.
22509691 Large vestibular aqueduct syndrome and Mondini dysplasia closely correlate with mutations in the SLC26A4 gene.
22444735 Two novel mutation of SLC26A4 gene found in Iranian families with autosomal recessive hearing loss.
22429511 New mutation of SLC26A4 gene found in consanguineous Tunisisan family members affected with Pendred syndrome.
22412181 Bilateral deafness with inner ear malformation patients and with enlarged vestibular aqueducts had a higher rate of SLC26A4 mutations, including 6 novel mutations and 4 polymorphisms.
22389666 Common molecular etiologies, GJB2 and SLC26A4 mutations, were rare in the Tibetan Chinese deaf population.
22285650 Patients with Pendred syndrome or non-syndromic deafness were submitted to genetic/functional analyzes of SLC26A4: monoallelic SLC26A4 variants accounted for one fourth of the cases.
22116360 Both the Cl(-)/I(-) and the Cl(-)/OH(-) exchange activities of pendrin V239D, G334V X335 and I487Y FSX39 were significantly reduced with respect to the wild type, with V239D displaying a residual iodide transport.
22116359 The transport activity of pendrin P70L, P301L and F667C is completely abolished; pendrin V609G and D687Y allelic variants are functionally impaired but retain significant transport.
22116356 Pendrin membrane abundance and its ability to mediate iodide efflux increase after activation of the PKA pathway.
21961810 Hearing impairment in patients with isolated Mondini deformity may be caused by factors other than mutations in the SLC26A4 gene.
21914796 CFTR predominately controls the rate of liquid secretion, whereas pendrin regulates the composition of the secreted fluid and identifies a critical role for this anion exchanger in transcellular HCO(3)(-) secretion in airway serous cells
21814192 IL4/IL13 increased PDS promoter activity but not in STAT6-deficient cells; mutation of STAT6 binding site rendered promoter insensitive to IL4/IL13; data are consistent with STAT6 being 1 of the links between PDS overexpression and IL4/IL13 stimulation
21809555 The positive rate of GJB2 and SLC26A4 mutations is high in patients with bilateral profound and severe sensorineural hearing loss.
21757707 pendrin protein is an anion transporter and molecular motor
21416585 report on the finding of a novel splice-site mutation in SLC26A4, which is associated with Pendred syndrome in two Portuguese siblings
21366435 All previously identified mutations as well as 2 novel SLC26A4 mutations, p.T485M and p.F718S, were detected by high resolution melt analysis in patients with hearing loss and enlarged vestibular aqueduct.
21187047 The renal functions of pendrin, especially its recently identified roles in the maintenance of sodium homeostasis & blood pressure, inner ear & thyroid dysfunction are reviewed.
21174747 The SLC26A4 mutations have a high carrying rate in non-syndromic hearing loss children.
21162657 SLC26A4 mutation frequency was extremely rare in Chinese
21154317 sequence of the SLC26A4 gene in moderate to profound sensorineural hearing loss (SNHL) patients with IVS7-2A to G mutation
21045265 Seven novel SLC26A4 variations in Graves' hyper-functioning thyroid gland
21045265 Observational study of gene-disease association. (HuGE Navigator)
21035230 decreased expression in Hashimoto thyroiditis thyroid tissues; increased expression in Graves' disease thyroid tissues
20931531 Observational study of gene-disease association. (HuGE Navigator)
20857898 Our data point to the absence of anti-pendrin aAbs in Tunisian autoimmune thyroid diseases patients' sera.
20842945 SLC26A4 IVS7-2A>G was the most common gene mutation type for nonsyndromic hearing impairment in Hunan province.
20842945 Observational study of gene-disease association. (HuGE Navigator)
20826203 Salicylate induced the transport of 4 pendrin mutants (p.P123S, p.M147V, p.S657Y and p.H723R) from the cytoplasm to the plasma membrane and restored the anion exchanger activity.
20739942 Observational study of genotype prevalence. (HuGE Navigator)
20668687 Observational study of genetic testing. (HuGE Navigator)
20621367 SLC26A4, FOXI1 and KCNJ10 are not major determinants in unilateral deafness and enlarged vestibular aqueduct
20621367 Observational study of gene-disease association. (HuGE Navigator)
20601923 prevalence of GJB2- and solute carrier family 26 member 4-related hearing impairment in an adult population with early-onset severe sensorineural hearing loss is significant, suggesting the need for routine assessment for genetic etiologies
20597900 tested Czech patients with early hearing loss, all GJB2-negative, for SLC26A4 mutations; SLC26A4 mutations are present mostly in patients with Enlarged Vestibular Aqueduct/Mondini Dysplasia and/or progressive hearing loss and those with affected siblings
20597900 Observational study of gene-disease association. (HuGE Navigator)
20553101 Observational study of gene-disease association. (HuGE Navigator)
20483489 In this study, two novel variations were identified in a Chinese family associated with enlarged vestibular aqueduct. The two novel substitutions, c.232T>C and c.2006A>T, were detected in exon 3 and exon 17 of the pendrin encoding gene.
20359100 The incidence of GJB2 gene and PDS IVS7-2A>G mutations among the deaf- mute children in Guiyang city is 38.10%.
20235449 We did not find significant differences in GJB2 235 delC, 299-300delAT, mtDNA A1555G and C1494T allelic frequency between Uigur and Han students.
20235449 Observational study of gene-disease association. (HuGE Navigator)
20056178 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19998422 number of mutant alleles of SLC26A4, but not the presence of cochlear anomalies, has a significant association with severity of hearing loss in ears with EVA.
19998422 Observational study of gene-disease association. (HuGE Navigator)
19954013 SLC26A4 mutations account for at least 10% of enlarged-vestibular-aqueduct-syndrome related hereditary hearing loss in China.
19954013 Observational study of gene-disease association. (HuGE Navigator)
19787632 functional analyses and genotype-phenotype association data strongly indicate that the c.-103T4C variant of SLC26A4 is a pathogenic mutation associated with nonsyndromic enlargement of the vestibular aqueduct
19786220 high prevalence of SLC26A4 mutations in Chinese patients with SNHL and EVA.
19744334 Observational study of gene-disease association. (HuGE Navigator)
19730683 Observational study of gene-disease association. (HuGE Navigator)
19718752 Observational study of gene-disease association. (HuGE Navigator)
19673989 Genetic changes in the SLC26A4 gene (Pendrin) are responsible for the Pendred/EVA syndrome.
19648736 in most Taiwanese families nonsyndromic enlarged vestibular aqueduct or Pendred syndrome might not result from aberrance in the transcriptional control of SLC26A4 by FOXI1.
19648736 Observational study of gene-disease association. (HuGE Navigator)
19615760 SLC26A4 gene mutation was identified in a patient diagnosed with senorineural hearing loss in Pendred syndrome.
19608655 The available data concerning SLC26A4 mutations and how they relate to transporter function, is summarized.[review]
19578036 Results support the hypothesis of an undected SLC26A4 mutation that accounts for enlarged vestibular aquaducts in a group of patients.
19558834 GJB2 is the most common gene and SLC26A4 is the second common gene that causes deafness in Chifeng city in Inner Mongolia.
19509082 Data show that mutation analysis of the SLC26A4 gene is of high diagnostic yield among subjects with deafness and bilateral EVA in both China and the U.S.
19509082 Observational study of gene-disease association. (HuGE Navigator)
19429184 Singular-locus and haplotype association analysis indicated no association between the SLC26A4 gene and mental retardation (MR), suggesting that the SLC26A4 gene has no measurable impact on iodine-deficiency based MR.
19426954 mutations in the inwardly rectifying K(+) channel gene KCNJ10 are associated with nonsyndromic hearing loss in carriers of SLC26A4 mutations with an EVA/PS phenotype.
19289392 Reviewed SLC26A4 genotypes for 80 individuals with and 130 without EVA (enlarged vestibular aqueducts; conclude there might be a protective effect of SLC26A4 mutations for asthma & hypertension but this study is statistically underpowered.
19287372 The goal of this study was to define the identities and frequencies of SLC26A4 mutations in 563 large, consanguineous Pakistani families segregating severe-to-profound recessive deafness.
19266817 There is a high incidence of SLC26A4 2168 A > G mutation in sensorineural hearing loss with unknown etiology in Henan province.
19266817 Observational study of gene-disease association. (HuGE Navigator)
19204907 Results show that SLC26A4 variants p.F335L, p.C565Y, p.L597S, p.M775T, and p.R776C had Cl(-)/I(-) and Cl(-)/HCO(3)(-) exchange rate constants that ranged from 13 to 93% of wild type values.
19204907 Observational study of gene-disease association. (HuGE Navigator)
19199245 Observational study of gene-disease association. (HuGE Navigator)
19196800 Functional in vitro data and the impaired iodide organification observed in patients with Pendred syndrome support a role of pendrin as an apical iodide transporter.
19050049 Pendrin is a novel autoantigen recognized by patients with autoimmune thyroid diseases; the use of pendrin antibodies is an accurate diagnostic tool.
19040761 Data show that GJB2 (23/135) and SLC26A4 are the two most commonly mutated genes causing deafness in Inner MOngolia.
19027966 Observational study of gene-disease association. (HuGE Navigator)
19017801 functionally characterized 10 missense mutations within the SLC26A4 ORF, and consistently found that on the protein level, an addition or omission of a proline or a charged amino acid in the SLC26A4 sequence is detrimental to its function
18988928 Observational study of gene-disease association. (HuGE Navigator)
18813951 four novel mutations in families with hereditary hearing impairment.
18710471 The finding of higher PDS, TPO and TSH-R mRNA expression in paediatric vs. adult primary tumour tissues supports the hypothesis that this might contribute to the increased functional activity of metastases in the paediatric group.
18692402 potential role of pendrin in mediating apical iodide efflux into the lumen of thyroid follicles, and functional role in the kidney and the inner ear
18641518 408 subjects with sensorineural hearing loss (12.5%) carried at least one c.919-2A>G allele, with 158 (4.8%) homozygotes and 250 (7.6%) heterozygotes
18641518 Observational study of gene-disease association. (HuGE Navigator)
18641360 pendrin regulates airway surface liquid thickness and may be an important contributor to asthma exacerbations induced by viral infections or allergens
18585793 Our results suggest that GJB2 and SLC26A4 mutations together make up a major cause of congenital hearing loss in the Korean population
18585793 Observational study of gene-disease association. (HuGE Navigator)
18427006 A novel c.1458_1459insT SLC26A4 mutation was detected in Israel deaf with vestibular aqueduct abnormalities.
18424749 Pendrin induced expression of MUC5AC, a major product of mucus in asthma and COPD, in airway epithelial cells
18368581 Screening revealed that in Japanese, mutation in SLC26A4 is the major causes of hearing loss.
18335745 A high SLC26A4 IVS7-2 A>G mutation frequency for deafness in Chinese patients was found. The IVS7-2 A>G mutation was frequently found in Han deaf groups. Expression in Tibetan, Hui, and other western minorities was lower than Han deaf population.
18335745 Observational study of gene-disease association. (HuGE Navigator)
18322141 Pendrin-mediated bicarbonate ion secretion in the renal tubule and anion transport in the endolymph may be regulated transcriptionally by systemic pH and aldosterone.
18316665 Observational study of gene-disease association. (HuGE Navigator)
18310264 The processing of pendrin mutant protein is determined by mutant specific mechanisms, and that a mutant specific method would be required to rescue the conformational defects of each folding mutant.
18285825 SLC26A4 gene mutation is associated with Pendred syndrome and DFNB4 hearing loss
18283249 Mutations of SLC26A4 gene are one of the factors, which are at the base of congenital hearing losses [review]
18274916 The mutant carrier rate for SLC26A4 was 15.2%, including 6.23% single mutant carriers
18274916 Observational study of gene-disease association. (HuGE Navigator)
18250610 The identification of these two frequent PDS mutations will facilitate the molecular diagnosis of Pendred syndrome in Thai populations.
18167283 Observational study of gene-disease association. (HuGE Navigator)
18075246 Observational study of genotype prevalence and genetic testing. (HuGE Navigator)
18067822 Observational study of genotype prevalence. (HuGE Navigator)
17949297 Observational study of genotype prevalence. (HuGE Navigator)
17854396 Papillary thyroid cancers Papillary thyroid cancers with no 131I uptake had slightly reduced NIS, significantly reduced thyroglobulin,thyroperoxidase and pendrin and significantly increased GLUT-1 gene expression levels.
17851929 no apparent correlation found between phenotypes and genotypes in hearing loss patients
17851929 Observational study of gene-disease association. (HuGE Navigator)
17766716 novel 11 bp duplication was found in a family with Pendred syndrome, showing a high intrafamilial phenotypic variability
17718863 Observational study of gene-disease association. (HuGE Navigator)
17718863 For the Chinese mutation spectrum of SLC26A4 gene, IVS 7-2A>G mutation was the most common form accounting for 57.63% (102/177) of all the mutant alleles.
17697873 Biallelic mutations in the SLC26A4 gene in 6 of 7 probands with Pendred syndrome in Taiwan, including a novel missense mutation.
17690912 variability in the degree of hearing loss is seen across genotypes implicating other genetic and/or environmental factors in the pathogenesis of Pendred syndrome, non-syndromic enlarged vestibular aqueduct, and Mondini dysplasia
17690912 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
17503324 A large percentage of patients with enlarged vestibular aqueduct lack mutations in the SLC26A4 coding region in one or both alleles.
17443271 15 patients from 13 unrelated Chinese families with deafness and enlarged vestibular aqueduct were analyzed for SLC26A4; the SLC26A4 mutation spectrum in the Chinese was different from other reported populations
17309986 Observational study of gene-disease association. (HuGE Navigator)
17309986 In a population of pediatric patients with an enlarged vestibular aqueduct and hearing loss, SLC26A4 mutations are a contributor to the phenotype
17007371 PDS IVS7-2 A-G mutation is associated with enlarged vestibular aqueduct syndrome.
16570074 SLC26A4 could be the second most frequent gene implicated in nonsyndromic deafness after GJB2
16283880 Observational study of genotype prevalence. (HuGE Navigator)
16260629 pendrin and thyroglobulin are downstream targets in vivo of TTF-1, whose action is a prime factor in controlling thyroid differentiation in vivo
16260428 SLC26A4-induced chloride transport is electroneutral when expressed in human cellular systems.
15905611 SLC26A4 mutations were found in 22 of the 25 probands with enlarged vestibular aqueduct or Mondini's dysplasia
15784681 Pendrin is a slow-folding protein with a propensity to form aggregates when overexpressed. Thus, we describe a system for the reversible induction of ER stress that is based entirely on the heterologous overexpression of GFP-pendrin.
15679828 Observational study of gene-disease association. (HuGE Navigator)
15355436 Mutations of SLC26A4 is associated with Pendred's syndrome
15279074 Observational study of gene-disease association. (HuGE Navigator)
15155570 pendrin is responsible for the iodide efflux in thyroid cells where intracellular iodide concentration is high and that the general function of pendrin in other tissues is to transport chloride through exchange with other anions.
14715652 pendrin has a role in apical iodide efflux
12788906 Homozygous missense mutation leading to the amino acid substitution S133T was detected in a family of Turkish origin. V138F is a founder mutation in our cohort of German families with Pendred's syndrome.
12727986 Observational study of gene-disease association. (HuGE Navigator)
12727986 work suggests that the pendrin gene should be considered a new susceptibility gene to autoimmune thyroid diseases
12727855 Hypermethylation of the Pendred syndrome gene SLC26A4 is an early event in thyroid tumorigenesis.
11932316 protein mislocalization and loss of iodide efflux in mutations: thyroid dysfunction in Pendred syndrome. loss of pendrin iodide transport for all mislocalizing mutations. variable thyroid dysfunction in affected subjects.
11834742 Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9. (SLC26A7).(SLC26A8).(SLC26A9) three entries
11748854 Detected five new mutations (X871M, T132I, IVS1-2A>G, Y556H and 406del5).
11716048 Sequence analysis of the PDS gene performed with DNA from Pendred's syndrome revealed the presence of a deletion of thymidine 279 in exon 3, a point mutation that results in a frameshift and a premature stop codon at codon 96 in the pendrin molecule.

AA Sequence

MAAPGGRSEPPQLPEYSCSYMVSRPVYSELAFQQQHERRLQERKTLRESLAKCCSCSRKRAFGVLKTLVP      1 - 70
ILEWLPKYRVKEWLLSDVISGVSTGLVATLQGMAYALLAAVPVGYGLYSAFFPILTYFIFGTSRHISVGP     71 - 140
FPVVSLMVGSVVLSMAPDEHFLVSSSNGTVLNTTMIDTAARDTARVLIASALTLLVGIIQLIFGGLQIGF    141 - 210
IVRYLADPLVGGFTTAAAFQVLVSQLKIVLNVSTKNYNGVLSIIYTLVEIFQNIGDTNLADFTAGLLTIV    211 - 280
VCMAVKELNDRFRHKIPVPIPIEVIVTIIATAISYGANLEKNYNAGIVKSIPRGFLPPELPPVSLFSEML    281 - 350
AASFSIAVVAYAIAVSVGKVYATKYDYTIDGNQEFIAFGISNIFSGFFSCFVATTALSRTAVQESTGGKT    351 - 420
QVAGIISAAIVMIAILALGKLLEPLQKSVLAAVVIANLKGMFMQLCDIPRLWRQNKIDAVIWVFTCIVSI    421 - 490
ILGLDLGLLAGLIFGLLTVVLRVQFPSWNGLGSIPSTDIYKSTKNYKNIEEPQGVKILRFSSPIFYGNVD    491 - 560
GFKKCIKSTVGFDAIRVYNKRLKALRKIQKLIKSGQLRATKNGIISDAVSTNNAFEPDEDIEDLEELDIP    561 - 630
TKEIEIQVDWNSELPVKVNVPKVPIHSLVLDCGAISFLDVVGVRSLRVIVKEFQRIDVNVYFASLQDYVI    631 - 700
EKLEQCGFFDDNIRKDTFFLTVHDAILYLQNQVKSQEGQGSILETITLIQDCKDTLELIETELTEEELDV    701 - 770
QDEAMRTLAS                                                                771 - 780
//

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18641360 2008 The epithelial anion transporter pendrin is induced by allergy and rhinovirus infection, regulates airway surface liquid, and increases airway reactivity and inflammation in an asthma model.
18585793 2008 Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients.
18427006 2008 A novel SLC26A4 (PDS) deafness mutation retained in the endoplasmic reticulum.
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12974744 2003 Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey.
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12112665 2002 Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
11932316 2002 Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.
11919333 2002 Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.
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11375792 2001 Clinical and molecular analysis of three Mexican families with Pendred's syndrome.
11317356 2001 Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
11274445 2001 Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion.
11087667 2000 Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger.
10878664 2000 Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus.
10843192 2000 Expression of pendrin and the Pendred syndrome (PDS) gene in human thyroid tissues.
10718825 2000 A novel mutation in the pendrin gene associated with Pendred's syndrome.
10700480 2000 Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene.
10602116 2000 Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.
10192399 1999 The Pendred syndrome gene encodes a chloride-iodide transport protein.
10190331 1999 Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.
9618167 1998 Molecular analysis of the PDS gene in Pendred syndrome.
9618166 1998 Two frequent missense mutations in Pendred syndrome.
9500541 1998 A mutation in PDS causes non-syndromic recessive deafness.
9398842 1997 Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).
9070918 1997 The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q.
8706311 1996 Thyroid peroxidase: evidence for disease gene exclusion in Pendred's syndrome.
8630498 1996 Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification.
8630497 1996 Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.
8541853 1995 Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population.