Affinage

SLC26A4

Pendrin · UniProt O43511

Length
780 aa
Mass
85.7 kDa
Annotated
2026-04-28
100 papers in source corpus 24 papers cited in narrative 24 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

SLC26A4 (pendrin) is an apical membrane anion exchanger (Cl⁻/HCO₃⁻/I⁻) that maintains fluid and ion homeostasis in the inner ear, kidney, and thyroid. In the inner ear, pendrin activity specifically in the endolymphatic sac is required for the embryonic Na⁺-to-K⁺ endolymph transition, endocochlear potential generation, and normal cochlear and vestibular development; loss of pendrin causes enlarged vestibular aqueduct and sensorineural hearing loss (DFNB4/Pendred syndrome) (PMID:23874234, PMID:23741519, PMID:24561068). In the kidney, pendrin is the exclusive apical HCO₃⁻ secretion pathway of type B intercalated cells, regulated by aldosterone, angiotensin II, and acid–base status, and is required for mineralocorticoid-induced NaCl retention and blood pressure elevation (PMID:12925556, PMID:22116363). Most pathogenic missense mutations cause ER retention due to protein misfolding—correctable by low temperature or chaperone (DNAJC14) upregulation—while transcription of SLC26A4 depends on a FOXI1-binding promoter element, and pendrin surface trafficking is controlled by an EphA2-containing protein complex (PMID:18310264, PMID:17503324, PMID:32165640, PMID:31909090).

Mechanistic history

Synthesis pass · year-by-year structured walk · 12 steps
  1. 1999 High

    Establishing where pendrin acts in the inner ear resolved why SLC26A4 mutations cause hearing loss: expression mapped to the endolymphatic duct/sac and cochlear external sulcus—sites of endolymph resorption—linking the transporter to fluid homeostasis rather than sensory transduction per se.

    Evidence RNA in situ hybridization across developmental stages in mouse inner ears

    PMID:10449762

    Open questions at the time
    • No functional transport data at this stage
    • Expression in non-inner-ear tissues not yet characterized
  2. 2003 High

    Demonstrating that Pds-null mice resist mineralocorticoid-induced hypertension and metabolic alkalosis established a renal role for pendrin distinct from its inner ear function: pendrin mediates apical Cl⁻/HCO₃⁻ exchange in type B intercalated cells and is required for NaCl retention.

    Evidence Quantitative RT-PCR, immunolocalization, and blood pressure/electrolyte physiology in DOCP-treated Pds−/− mice

    PMID:12925556

    Open questions at the time
    • Upstream signals controlling renal pendrin abundance not yet defined
    • Whether pendrin contributes to basal (non-mineralocorticoid) blood pressure unknown
  3. 2005 High

    Showing that Slc26a4 knockout alters intercalated cell subtype composition and expression of H⁺-ATPase, NBC3, and RhBG revealed that pendrin-mediated HCO₃⁻ secretion is not merely one of several pathways but the dominant apical bicarbonate exit route whose loss remodels collecting duct cell identity.

    Evidence Immunoblotting, immunolocalization, and balance studies in Slc26a4−/− mice

    PMID:16144965

    Open questions at the time
    • Signaling mechanism linking loss of luminal HCO₃⁻ to intercalated cell remodeling unknown
    • Whether human CKD patients show analogous cell-type shifts unexplored
  4. 2006 Medium

    Direct measurement of Cl⁻/I⁻ exchange in heterologous cells confirmed pendrin as a bona fide anion exchanger and showed the first disease-associated mutant (S28R) with quantifiably reduced transport, establishing the functional assay framework used in subsequent studies.

    Evidence Fast fluorometric Cl⁻/I⁻ transport assay in transfected cells

    PMID:16914891

    Open questions at the time
    • Only one mutant tested
    • Cl⁻/HCO₃⁻ exchange not measured in this assay
  5. 2007 High

    Identification of FOXI1 as a transcription factor that binds the SLC26A4 promoter and is required for its expression, together with EVA in double-heterozygous mice, resolved how monoallelic SLC26A4 mutations can cause disease through digenic dosage-dependent transcriptional insufficiency.

    Evidence EMSA for FOXI1 binding, reporter assays, Slc26a4+/−;Foxi1+/− double-heterozygous mice with EVA phenotype

    PMID:17503324

    Open questions at the time
    • Other transcription factors acting on SLC26A4 not identified
    • Whether FOXI1 dosage explains all monoallelic SLC26A4 cases unknown
  6. 2008 High

    Systematic analysis of disease-associated missense mutations revealed that the dominant pathogenic mechanism is ER retention and misfolding rather than catalytic-site inactivation, with mutation-specific rescue by low temperature indicating correctable folding defects; a subset of mutations (e.g., E303Q) reach the surface but are catalytically dead, separating trafficking from transport competence.

    Evidence Immunofluorescence, N-glycosylation analysis, Cl⁻/HCO₃⁻ exchange assays, low-temperature rescue in transfected cells; anion exchange in Xenopus oocytes with surface expression quantification

    PMID:18310264 PMID:19017801

    Open questions at the time
    • Structural basis for folding defects unknown (no crystal structure)
    • Endogenous chaperones involved not yet identified
    • Whether ER-retained pendrin triggers UPR or is degraded by ERAD not tested
  7. 2011 High

    Integrating knockout physiology with hormonal regulation demonstrated that pendrin expression and apical targeting in kidney are dynamically controlled by aldosterone, angiotensin II, dietary Cl⁻, and acid–base status, positioning pendrin as a regulated effector of systemic electrolyte balance rather than a constitutive transporter.

    Evidence Slc26a4 KO mice with immunolocalization and acid–base physiological studies under varied conditions

    PMID:22116363

    Open questions at the time
    • Direct kinase/phosphatase cascades linking aldosterone/AngII to pendrin trafficking not identified
    • Post-translational modifications regulating pendrin unclear
  8. 2013 High

    Targeted restoration of pendrin solely in the endolymphatic sac rescued hearing, balance, endocochlear potential, and otoconia in Slc26a4-null mice, proving that the endolymphatic sac—not the cochlea or vestibule—is the critical site of pendrin action for inner ear development, and that pendrin controls the embryonic Na⁺-to-K⁺ endolymph composition switch.

    Evidence Transgenic complementation (Atp6v1b1-promoter-driven Slc26a4) in null mice; endocochlear potential, pH, ion-selective electrode measurements

    PMID:23741519 PMID:23874234

    Open questions at the time
    • Mechanism by which endolymphatic sac pendrin remotely controls cochlear endolymph composition unclear
    • Identity of downstream ion transporters affected in endolymphatic sac not fully catalogued
  9. 2014 High

    A doxycycline-controlled hypomorphic model showed that even partial pendrin insufficiency causes fluctuating hearing loss correlated with endocochlear potential instability and stria vascularis degeneration, explaining the clinical fluctuating phenotype in patients with residual SLC26A4 function.

    Evidence Doxycycline-regulated Slc26a4 transgenic mice; ABR, endocochlear potential, stria vascularis histology

    PMID:24561068

    Open questions at the time
    • Threshold of pendrin activity needed to prevent fluctuating hearing loss not quantified
    • Whether stria vascularis degeneration is reversible unknown
  10. 2019 Medium

    Multiple complementary advances addressed therapeutic correction: high-throughput functional classification of variants distinguished loss-of-function from benign alleles; modified U1 snRNA rescued splicing defects caused by 11/17 splice-site mutations; chaperone DNAJC14 overexpression rescued H723R-pendrin folding, surface expression, and cochlear pathology in vivo; and embryonic otocyst gene delivery restored hearing in KO mice.

    Evidence Doxycycline-inducible HEK293T transport assay across many variants; minigene splicing assays with U1/ASO rescue; DNAJC14-overexpressing transgenic cross with H723R mice; viral vector otocyst injection with ABR

    PMID:31033086 PMID:31599023 PMID:31695761 PMID:31909090

    Open questions at the time
    • DNAJC14 mechanism of pendrin folding rescue not defined at structural level
    • Gene therapy did not rescue vestibular function—spatial requirements for vestibular rescue unclear
    • Long-term durability of gene therapy or chaperone approaches unknown
  11. 2020 High

    Discovery that EphA2 forms a complex with pendrin and controls its subcellular localization via ephrin-B2-triggered internalization established a receptor tyrosine kinase-based trafficking mechanism, and identification of digenic EPHA2+SLC26A4 mutations in Pendred syndrome patients expanded the genetic architecture of the disease.

    Evidence Reciprocal co-immunoprecipitation, subcellular localization, ephrin ligand stimulation assays, patient mutation identification

    PMID:32165640

    Open questions at the time
    • Downstream signaling intermediates between EphA2 and pendrin endocytosis not mapped
    • Whether EphA2 regulation operates in kidney intercalated cells unknown
    • Structural basis of pendrin–EphA2 interaction not determined
  12. 2022 High

    Comparison of single and double Slc26a4/Slc26a7 knockouts clarified that SLC26A7, not SLC26A4, is the dominant thyroid iodide transporter, relegating pendrin to a secondary role in thyroid hormonogenesis and explaining why most Pendred syndrome patients are euthyroid or only mildly hypothyroid.

    Evidence Slc26a4−/−, Slc26a7−/−, and double-null mice on normal and low-iodine diets; growth, thyroid hormone levels, RNA-seq

    PMID:35788623

    Open questions at the time
    • Whether SLC26A4 and SLC26A7 have distinct apical vs. basolateral roles in thyrocytes not resolved
    • Iodine diet interaction with SLC26A4 in humans not tested

Open questions

Synthesis pass · forward-looking unresolved questions
  • Key unresolved questions include the high-resolution structure of pendrin (no experimentally determined structure to date), the precise signaling cascades linking aldosterone/angiotensin II to pendrin trafficking in kidney, the mechanism by which endolymphatic sac pendrin remotely controls cochlear endolymph composition, and whether chaperone-based or gene therapy approaches can be translated to postnatal treatment windows.
  • No experimentally determined 3D structure of pendrin
  • Signaling intermediates for hormonal regulation of renal pendrin trafficking unknown
  • Postnatal therapeutic window for inner ear rescue not established

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005215 transporter activity 5
Localization
GO:0005886 plasma membrane 6 GO:0005783 endoplasmic reticulum 3
Pathway
R-HSA-382551 Transport of small molecules 5 R-HSA-1643685 Disease 4 R-HSA-162582 Signal Transduction 2
Partners
DNAJC14EPHA2FOXI1

Evidence

Reading pass · 24 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1999 Mouse ortholog Pds (Slc26a4) is expressed in the endolymphatic duct and sac, distinct areas of the utricle and saccule, and the external sulcus region of the cochlea—regions implicated in endolymphatic fluid resorption—establishing a key role for pendrin in inner ear fluid homeostasis. RNA in situ hybridization on mouse inner ears across developmental stages Proceedings of the National Academy of Sciences of the United States of America High 10449762
2003 Pendrin (Slc26a4) is expressed on the apical plasma membrane of type B and non-A, non-B intercalated cells in the kidney collecting duct; deoxycorticosterone (DOCP) upregulates Pds mRNA (~60%) and apical pendrin protein (2–6-fold), and Pds-null mice fail to develop DOCP-induced hypertension or metabolic alkalosis, demonstrating that pendrin is required for mineralocorticoid-induced NaCl retention and blood pressure elevation. Quantitative RT-PCR, immunolocalization (light and electron microscopy), and physiological studies in Pds(-/-) mice treated with DOCP Hypertension High 12925556
2005 Genetic disruption of Slc26a4 in mice reduces the abundance of non-A (type B and non-A, non-B) intercalated cells and decreases H⁺-ATPase, NBC3, and RhBG protein expression in the cortical collecting duct, indicating that pendrin-mediated HCO₃⁻ secretion controls intercalated cell subtype composition and H⁺/OH⁻ transporter expression to maintain acid-base balance. Balance studies, immunolocalization, and immunoblotting in Slc26a4(-/-) mice American Journal of Physiology – Renal Physiology High 16144965
2006 Pendrin (SLC26A4) mediates Cl⁻/I⁻ anion exchange across the plasma membrane; the disease-associated S28R mutant shows markedly reduced Cl⁻/I⁻ transport activity compared with wild-type pendrin. Fast fluorometric Cl⁻/I⁻ transport assay in heterologously expressing cells Cellular Physiology and Biochemistry Medium 16914891
2007 A c.−103T→C mutation in the SLC26A4 promoter abolishes FOXI1 binding and eliminates FOXI1-mediated transcriptional activation of SLC26A4; mutations in FOXI1 also compromise its ability to activate SLC26A4; double-heterozygous Slc26a4(+/−); Foxi1(+/−) mice develop EVA, establishing a dosage-dependent transcriptional regulatory pathway for SLC26A4. Reporter assays, electrophoretic mobility shift assay (FOXI1 binding), mouse double-heterozygous model with EVA phenotype readout American Journal of Human Genetics High 17503324
2008 Most disease-associated SLC26A4 missense mutations cause retention of pendrin in the endoplasmic reticulum or centrosomal region, abolishing complex glycosylation and Cl⁻/HCO₃⁻ exchange activity; temperature rescue (low temperature) restores processing of H723R-pendrin but not L236P-pendrin, demonstrating mutation-specific folding defects. Cellular localization (immunofluorescence/fractionation), N-glycosylation assays, Cl⁻/HCO₃⁻ exchange activity assays, low-temperature rescue experiments Journal of Medical Genetics High 18310264
2008 Functional characterization of SLC26A4 missense mutations in Xenopus oocytes revealed that addition or loss of proline or charged amino acids is detrimental to pendrin ion transport function; the E303Q mutant, despite near-normal surface expression, completely abolishes anion exchange activity, while F354S and E737D mutations selectively reduce Cl⁻/HCO₃⁻ exchange relative to Cl⁻/Cl⁻ and Cl⁻/I⁻ exchange. Anion exchange activity measured in Xenopus oocytes; surface expression quantification Proceedings of the National Academy of Sciences of the United States of America High 19017801
2008 Two Tunisian disease-associated SLC26A4 mutations (L445W and M147T) abolish complex glycosylation of pendrin and prevent its trafficking to the plasma membrane, trapping it in an intracellular compartment. RT-PCR, western blot, and immunofluorescence in COS7 cells and thyroid 8305C cells transfected with wild-type or mutant SLC26A4 Clinical Genetics Medium 20128824
2008 Carbonic anhydrase II (CAII) deficiency reduces pendrin (Slc26a4) mRNA and protein expression in kidney cortex by ~63%, demonstrating that CAII is required for maintenance of pendrin expression in intercalated cells. Real-time RT-PCR, Northern hybridization, immunolabeling, and immunoblotting in CAII-null mice Cellular Physiology and Biochemistry Medium 18209476
2008 A novel frameshift SLC26A4 mutation (c.1458_1459insT) produces a protein mislocalized to the ER rather than the plasma membrane in COS7 cells, as shown by YFP-fusion live imaging. Fluorescent protein (YFP) construct transfection in COS7 cells with live imaging Archives of Otolaryngology – Head & Neck Surgery Low 18427006
2009 Pendrin (SLC26A4) functions as a transmembrane exchanger of Cl⁻, I⁻, and HCO₃⁻; functional assays of missense mutations confirmed that most disease alleles substantially reduce anion transport, with the severity correlating with structural changes such as proline insertion/deletion or charge alterations. Radioisotope-based transport assays and confocal microscopy for membrane expression in heterologous expression system Journal of Molecular Endocrinology Medium 19608655
2011 In Slc26a4-null mice, pendrin-mediated luminal Cl⁻/HCO₃⁻ exchange is the exclusive apical bicarbonate-secreting pathway in type B intercalated cells; its expression and activity are regulated by systemic acid-base status, dietary chloride, angiotensin II, and aldosterone through changes in subcellular localization, cell abundance, and total protein level. Genetic ablation (Slc26a4 knockout mouse), immunolocalization, and acid-base physiological studies Cellular Physiology and Biochemistry High 22116363
2012 Most SLC26A4 variant pendrins tested in Chinese patients with EVA cause retention of the protein in intracellular compartments rather than delivery to the plasma membrane, resulting in significantly reduced anion transport capability. Confocal microscopy for membrane expression and radioisotope transport assays in heterologous expression system PLoS One Medium 23185506
2013 Restoration of SLC26A4/pendrin expression specifically in the endolymphatic sac (using ATP6V1B1 promoter-driven transgene) is sufficient to rescue normal endocochlear potential, pH gradients, otoconia formation, and hearing and balance in Slc26a4-null mice, demonstrating that pendrin activity in the endolymphatic sac is the critical site for inner ear development. Transgenic mouse complementation (endolymphatic sac-targeted expression in Slc26a4(Δ/Δ) background), auditory/vestibular physiology, endocochlear potential measurements, pH measurements, immunohistochemistry PLoS Genetics High 23874234
2013 In embryonic Slc26a4(Δ/Δ) cochlea, endolymph is initially Na⁺-rich (~141 mM) and transitions to K⁺-rich fluid before birth; pendrin loss delays this K⁺ rise by ~3 days, linking disrupted Na⁺ transport to endolymphatic sac enlargement. Double-barreled ion-selective electrode measurements of endolymph Na⁺ and K⁺, quantitative RT-PCR and immunohistochemistry for ion transporters in Slc26a4(Δ/Δ) vs. Slc26a4(Δ/+) mice PLoS One Medium 23741519
2013 Residual anion exchange activity and surface expression ratio of pendrin are higher for the T410M mutant than the H723R mutant; patients with c.919-2A>G homozygous mutations produce a small amount of normal pendrin transcript (6–17% of normal), and these differences correlate with better residual hearing, establishing a genotype–function–phenotype relationship. Quantitative PCR for transcript levels, surface expression ratio assay, anion exchange activity assay in transfected cells Clinical Genetics Medium 24007330
2014 Slc26a4-insufficient mice (with limited embryonic pendrin expression then withdrawn) develop fluctuating hearing loss and degeneration of stria vascularis intermediate cells, with hearing threshold fluctuations correlating with endocochlear potential fluctuations, establishing that pendrin insufficiency causes stria vascularis dysfunction and fluctuating hearing. Doxycycline-controlled transgenic mouse model, auditory brainstem response, endocochlear potential measurements, histology of stria vascularis Neurobiology of Disease High 24561068
2019 A systematic doxycycline dosage-dependent transport assay in HEK293T stable lines expressing pendrin missense variants in a 96-well format quantitatively distinguished loss-of-function from functional variants; several putative missense variants were found to disrupt mRNA splicing rather than protein function directly. Stable HEK293T cell lines with doxycycline-inducible expression of pendrin variants; high-throughput anion transport assay; splicing analysis Human Mutation High 31599023
2019 Local gene delivery (viral vector with Slc26a4 cDNA) to embryonic day 12.5 otocysts of Slc26a4 knockout and knock-in mice restored hearing but not vestibular function, demonstrating distinct spatial requirements for pendrin in cochlear vs. vestibular development. Recombinant viral vector-mediated otocyst transfection, auditory brainstem response, vestibular function testing in pendrin-deficient mice Theranostics Medium 31695761
2019 Modified U1 snRNA rescues aberrant splicing caused by 11 of 17 SLC26A4 splice-site mutations tested in minigene assays; for three cryptic splice mutations, co-application of modified U1 snRNA and antisense oligonucleotides restored normal splicing, demonstrating that these mutations disrupt U1 snRNA recognition at 5' splice donor sites. Minigene splicing assays, modified U1 snRNA transfection, antisense oligonucleotide rescue experiments Human Mutation Medium 31033086
2019 The chaperonin DNAJC14, activated via JEV inoculation in vitro, rescues surface expression and anion exchange activity of H723R-pendrin; DNAJC14 overexpression in H723R-pendrin transgenic mice reduces cochlear hydrops and preserves outer hair cells and stria vascularis thickness with increased KCNJ10 expression, confirming that H723R causes a protein-folding defect correctable by chaperone upregulation. In vitro DNAJC14 activation assay, H723R-pendrin transgenic mice crossed with DNAJC14-overexpressing mice, cochlear histology, KCNJ10 immunostaining Molecular Therapy: Methods & Clinical Development Medium 31909090
2020 EphA2 forms a protein complex with pendrin and controls pendrin's subcellular localization; this interaction is disrupted by pathogenic pendrin mutations. Digenic mutations in EPHA2 (causing amino acid substitutions) in combination with monoallelic SLC26A4 mutations cause Pendred syndrome; EphA2 mutants attenuate ephrin-B2-triggered internalization of pendrin while sparing ephrin-A1-induced internalization. Co-immunoprecipitation (pendrin–EphA2 complex), subcellular localization studies, patient mutation identification, ephrin ligand stimulation assays Nature Communications High 32165640
2021 AT2 cell-specific deletion of RhoA upregulates Slc26a4 (pendrin) expression in mouse lungs; SLC26A4 upregulation is also found in AT2 cells of asthmatic patients and in human airway epithelial cells expressing dominant-negative RHOA; SLC26A4 inhibition promotes epithelial TGF-β1 release and attenuates allergic airway inflammation, placing SLC26A4 downstream of RhoA in a pathway controlling TGF-β1 secretion and airway inflammation. Conditional AT2-specific RhoA KO mice, allergen challenge model, RNA sequencing, dominant-negative RHOA overexpression in human cells, SLC26A4 inhibition experiments JCI Insight Medium 34101619
2022 Slc26a7-null mice show goitrous congenital hypothyroidism and marked growth failure; Slc26a4-null mice show no growth failure or hypothyroidism under low-iodine conditions; double-deficient mice are more severely affected than Slc26a7-null mice, and RNA-seq shows far more differentially expressed genes in Slc26a7-null than Slc26a4-null thyroid, demonstrating that SLC26A7 is the dominant iodide transporter for thyroid function while SLC26A4 plays a secondary role. Slc26a4-null, Slc26a7-null, and double-null mouse models under normal and low-iodine diet; growth/hormone measurements; RNA-seq Scientific Reports High 35788623

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1999 Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear. Proceedings of the National Academy of Sciences of the United States of America 243 10449762
2001 Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Human mutation 234 11317356
2003 Deoxycorticosterone upregulates PDS (Slc26a4) in mouse kidney: role of pendrin in mineralocorticoid-induced hypertension. Hypertension (Dallas, Tex. : 1979) 179 12925556
1998 Molecular analysis of the PDS gene in Pendred syndrome. Human molecular genetics 178 9618167
2007 Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). American journal of human genetics 163 17503324
2015 Ethnic-specific spectrum of GJB2 and SLC26A4 mutations: their origin and a literature review. The Annals of otology, rhinology, and laryngology 93 25999548
2014 Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study. Journal of human genetics 90 24599119
2008 Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA. Proceedings of the National Academy of Sciences of the United States of America 90 19017801
2008 Heterogeneity in the processing defect of SLC26A4 mutants. Journal of medical genetics 88 18310264
2007 Genotype-phenotype correlations for SLC26A4-related deafness. Human genetics 84 17690912
1995 Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population. Human molecular genetics 81 8541853
2009 SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis. Journal of human genetics 80 19287372
2009 Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome. Journal of molecular endocrinology 77 19608655
2012 Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China. PloS one 74 23185506
2008 GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects. Acta oto-laryngologica 72 18274916
2020 LncRNA SLC26A4-AS1 suppresses the MRN complex-mediated DNA repair signaling and thyroid cancer metastasis by destabilizing DDX5. Oncogene 70 32939012
2018 Removal of trace organic chemicals in wastewater effluent by UV/H2O2 and UV/PDS. Water research 70 30193192
2009 Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss. Physiological genomics 54 19509082
2008 Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis. Journal of translational medicine 53 19040761
2019 Gene therapy for hereditary hearing loss by SLC26A4 mutations in mice reveals distinct functional roles of pendrin in normal hearing. Theranostics 51 31695761
2013 SLC26A4 targeted to the endolymphatic sac rescues hearing and balance in Slc26a4 mutant mice. PLoS genetics 51 23874234
2003 Hypermethylation of the Pendred syndrome gene SLC26A4 is an early event in thyroid tumorigenesis. Cancer research 51 12727855
2003 Caenorhabditis elegans EVL-14/PDS-5 and SCC-3 are essential for sister chromatid cohesion in meiosis and mitosis. Molecular and cellular biology 48 14560015
2011 Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. Journal of translational medicine 44 21961810
2020 Long non coding RNA SLC26A4-AS1 exerts antiangiogenic effects in human glioma by upregulating NPTX1 via NFKB1 transcriptional factor. The FEBS journal 43 32255252
2015 Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations. PloS one 43 26397989
2013 Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations. Clinical genetics 43 24007330
2011 Establishment of a knock-in mouse model with the SLC26A4 c.919-2A>G mutation and characterization of its pathology. PloS one 43 21811566
2010 Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct. International journal of pediatric otorhinolaryngology 42 20621367
2020 Generation of transgene-free PDS mutants in potato by Agrobacterium-mediated transformation. BMC biotechnology 41 32398038
2020 Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome. Nature communications 39 32165640
2019 Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA. The Laryngoscope 39 31633822
2014 Slc26a4-insufficiency causes fluctuating hearing loss and stria vascularis dysfunction. Neurobiology of disease 39 24561068
2013 Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. BMC medical genetics 36 23965030
2005 Intercalated cell H+/OH- transporter expression is reduced in Slc26a4 null mice. American journal of physiology. Renal physiology 36 16144965
2006 Fast fluorometric method for measuring pendrin (SLC26A4) Cl-/I- transport activity. Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 35 16914891
2010 Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA). Annals of human genetics 33 20597900
1999 Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome. Human mutation 33 10571950
2013 The effect of GJB2 and SLC26A4 gene mutations on rehabilitative outcomes in pediatric cochlear implant patients. European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 30 23296490
2009 Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 30 19786220
2003 PDS is a new susceptibility gene to autoimmune thyroid diseases: association and linkage study. The Journal of clinical endocrinology and metabolism 30 12727986
2012 Genetic Screening of GJB2 and SLC26A4 in Korean Cochlear Implantees: Experience of Soree Ear Clinic. Clinical and experimental otorhinolaryngology 29 22701767
2011 The anion exchanger pendrin (SLC26A4) and renal acid-base homeostasis. Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 29 22116363
2012 Screening of SLC26A4, FOXI1, KCNJ10, and GJB2 in bilateral deafness patients with inner ear malformation. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 28 22412181
2009 Do mutations of the Pendred syndrome gene, SLC26A4, confer resistance to asthma and hypertension? Journal of medical genetics 28 19289392
2008 Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment. European journal of pediatrics 28 18813951
2013 Subgroups of enlarged vestibular aqueduct in relation to SLC26A4 mutations and hearing loss. The Laryngoscope 27 24105851
2014 Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss. PeerJ 26 24860705
2020 Computational analysis of functional single nucleotide polymorphisms associated with SLC26A4 gene. PloS one 25 31971949
2019 Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease-associated variants. Human mutation 25 31599023
2019 Silencing of the phytoene desaturase (PDS) gene affects the expression of fruit-ripening genes in tomatoes. Plant methods 24 31592162
2004 Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct. Journal of endocrinological investigation 24 15279074
2021 Overexpression of lncRNA SLC26A4-AS1 inhibits papillary thyroid carcinoma progression through recruiting ETS1 to promote ITPR1-mediated autophagy. Journal of cellular and molecular medicine 23 34378314
2019 Overexpression of long noncoding RNA SLC26A4-AS1 inhibits the epithelial-mesenchymal transition via the MAPK pathway in papillary thyroid carcinoma. Journal of cellular physiology 23 31556116
2015 Prevalence of mutations in GJB2, SLC26A4, and mtDNA in children with severe or profound sensorineural hearing loss in southwestern China. Genetic testing and molecular biomarkers 23 25493717
2021 Type II alveolar epithelial cell-specific loss of RhoA exacerbates allergic airway inflammation through SLC26A4. JCI insight 22 34101619
2019 A systematic review of SLC26A4 mutations causing hearing loss in the Iranian population. International journal of pediatric otorhinolaryngology 22 31228605
2013 A systematic review and meta-analysis of common mutations of SLC26A4 gene in Asian populations. International journal of pediatric otorhinolaryngology 22 23958391
2011 Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting. The Journal of molecular diagnostics : JMD 21 21704276
2019 Prenatal electroporation-mediated gene transfer restores Slc26a4 knock-out mouse hearing and vestibular function. Scientific reports 20 31784581
2013 Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct. JAMA otolaryngology-- head & neck surgery 20 24051746
2020 The Effects of GJB2 or SLC26A4 Gene Mutations on Neural Response of the Electrically Stimulated Auditory Nerve in Children. Ear and hearing 19 31124793
2016 Vestibular function is associated with residual low-frequency hearing loss in patients with bi-allelic mutations in the SLC26A4 gene. Hearing research 19 26900070
2001 Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis. Journal of human genetics 19 11558900
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