Thyroid and breast carcinomas in a patient with Pendred syndrome: a case report and literature review.

Foxi1 regulates multipotent mucociliary progenitors and ionocyte specification through transcriptional and epigenetic mechanisms.

Concomitant Mutations in the Thyroglobulin and SLC26A4 Genes Leading to Fetal Goiter and Congenital Hypothyroidism in a Patient With Pendred Syndrome.

Assessing the Functional Significance of Novel and Rare Variants of the SLC26A4 Gene Found in Patients with Hearing Loss by Minigene Assay.

[Congenital hearing loss in children].

Diagnostic yield of whole exome sequencing with targeted gene analysis in prelingual sensorineural hearing loss in Thailand.

Prevalence of pendrin defects in sudanese families with congenital hypothyroidism.

Novel SLC26A4 variant in Pendred syndrome with non-classical inheritance: a case report.

Low Efficiency of Homology-Independent Targeted Integration for CRISPR/Cas9 Correction in the Vicinity of the SLC26A4 c.919-2A>G Variant.

Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome.

Influence of melanin and macrophage activation on hearing loss in SLC26A4 deficient mice.

Comparative analysis of haplotypes carrying pathogenic variants c.1545T>G, c.2027T>A and c.919-2A>G of the SLC26A4 gene in patients with hearing loss from the Tyva Republic (Southern Siberia).

Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct.

Inhibitors of the ubiquitin‑proteasome system rescue cellular levels and ion transport function of pathogenic pendrin (SLC26A4) protein variants.

Advances in Understanding the Molecular Dynamics of Autosomal Dominant Auditory Neuropathy: Unveiling a Novel DIAPH3 Gene Variant Associated With Sensorineural Hearing Loss and Bilateral Vestibular Aqueduct Enlargement.

Comparative genomic profiling of SLC26A4-expressing cells in the inner ear and other organs.

Clinical Phenotypic Characterization of the SLC26A4 Mutation in Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct.

Hearing loss with two pathogenic SLC26A4 variants and positive thyroid autoantibody: A case report.

CRISPR/Cas9-mediated exon skipping to restore premature translation termination in a DFNB4 mouse model.

Solute Carrier Family 26 Member 4 (SLC26A4), A Potential Therapeutic Target for Asthma.

Variability in Inner Ear Morphology Among a Family With Pendred Syndrome Due to a SLC26A4 Gene Variant.

Incomplete partition type II in its various manifestations: isolated, in association with EVA, syndromic, and beyond; a multicentre international study.

Functional Studies of Deafness-Associated Pendrin and Prestin Variants.

Clinically Relevant Germline Variants in Children With Nonmedullary Thyroid Cancer.

Enlarged vestibular aqueduct as a cause of postneonatal deafness.

Mechanism of anion exchange and small-molecule inhibition of pendrin.

Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais.

Pendrin: linking acid base to blood pressure.

Syndromic Hearing Loss in Children.

Novel small molecule-mediated restoration of the surface expression and anion exchange activity of mutated pendrin causing Pendred syndrome and DFNB4.

Causes of hearing loss and implantation age in a cohort of Danish pediatric cochlear implant recipients.

Analysis of clinical characteristics of thyroid phenotype in Pendred syndrome based on multiple databases.

Single-cell RNA-sequencing of stria vascularis cells in the adult Slc26a4-/- mouse.

Quantitative analysis and correlative evaluation of video-oculography, micro-computed tomography, and histopathology in Pendrin-null mice.

Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger.

Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia).

Evidence of vestibular dysfunction in children with enlarged vestibular aqueduct.

Case report: A case of SLC26A4 mutations causing pendred syndrome and non-cystic fibrosis bronchiectasis.

A Prospective Study of Genetic Variants in Infants with Congenital Unilateral Sensorineural Hearing Loss.

SLC26A4 Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management.

Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies.

Pendred's syndrome diagnosed in adulthood at the high resolution thyroid clinic.

Cochlear Implantation in Children with Enlarged Vestibular Aqueduct: A Systematic Review of Surgical Implications and Outcomes.

Histopathological Features of Pendred Syndrome Thyroids Align with Differences in the Expression of Thyroid-Specific Markers, Apical Iodide Transporters, and Ciliogenesis Process.

Molecular Features of SLC26A4 Common Variant p.L117F.

Congenital hypothyroidism as the initial presentation of pendred syndrome associated with mutated IVS7-2A>G in SLC26A4 gene in a Taiwanese neonate.

SLC26A4 mutation in Pendred syndrome with hypokalemia: A case report.

Molecular diagnose of a large hearing loss population from China by targeted genome sequencing.

Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation.

TMED3 Complex Mediates ER Stress-Associated Secretion of CFTR, Pendrin, and SARS-CoV-2 Spike.

Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct.

Case of delayed presentation of Pendred syndrome with a large goitre causing a life-threatening airway obstruction.

Rescue of mis-splicing of a common SLC26A4 mutant associated with sensorineural hearing loss by antisense oligonucleotides.

Enlarged Vestibular Aqueduct: Disease Characterization and Exploration of Potential Prognostic Factors for Cochlear Implantation.

Rapid Genetic Diagnosis for Okinawan Patients with Enlarged Vestibular Aqueduct Using Single-Stranded Tag Hybridization Chromatographic Printed-Array Strip.

Custom Next-Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys.

Different Rates of the SLC26A4-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia).

Clinical and genetic analysis of children with hearing loss and bilateral enlarged vestibular aqueducts.

Pendred Syndrome, or Not Pendred Syndrome? That Is the Question.

Genetic Determinants of Non-Syndromic Enlarged Vestibular Aqueduct: A Review.

Reclassification of Whole Exome Sequencing-derived Genetic Variants in Pendred Syndrome with ACMG/AMP Standards.

Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss.

Pendred Syndrome with C Cell Hyperplasia.

Molecular genetic landscape of hereditary hearing loss in Pakistan.

Speech Perception and Production in Cochlear Implant Recipients with Pendred Syndrome.

Vestibular Function in Pendred Syndrome: Intact High Frequency VOR and Saccular Hypersensitivity.

Follicular thyroid cancer in a patient with Pendred syndrome.

Cochlear implantation in patients with Pendred syndrome.

Transcriptomic Analysis Reveals an Altered Hcy Metabolism in the Stria Vascularis of the Pendred Syndrome Mouse Model.

Toward the Pathogenicity of the SLC26A4 p.C565Y Variant Using a Genetically Driven Mouse Model.

Molecular diagnosis of SLC26A4-related hereditary hearing loss in a group of patients from two provinces of Iran.

Interpreting pendred syndrome as a foetal hydrops: Clinical and animal model evidence.

Clinical heterogeneity of the SLC26A4 gene in UAE patients with hearing loss and bioinformatics investigation of DFNB4/Pendred syndrome missense mutations.

Outcomes of Cochlear Implantation in Patients with Pendred syndrome: A Systematic Review and Narrative Synthesis.

Pendred syndrome with hyperthyroidism.

Enlarged vestibular aqueduct and Mondini Malformation: audiological, clinical, radiologic and genetic features.

Genotype-Phenotype Correlation for Predicting Cochlear Implant Outcome: Current Challenges and Opportunities.

An iPSC line (TYWHSTi002-A) derived from a patient with Pendred syndrome caused by compound heterozygous mutations in the SLC26A4 gene.

Maternal UPD of chromosome 7 in a patient with Silver-Russell syndrome and Pendred syndrome.

Viewing Cortical Collecting Duct Function Through Phenotype-guided Single-Tubule Proteomics.

A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4.

[Enlarged vestibular aqueduct syndrome-dehiscence syndromes-honeycomb mastoid : Pathophysiology and evidence for clinical differentiation].

Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes.

Bimodal strategy for excellent audiological rehabilitation in a subject with a novel nonsense mutation of the SLC26A4 gene: A case report.

Genetic Hearing Loss Associated With Autoinflammation.

Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome.

Inner Ear Malformations in Congenital Deafness Are Not Associated with Increased Risk of Breech Presentation.

Inhibiting SLC26A4 reverses cardiac hypertrophy in H9C2 cells and in rats.

Computational analysis of functional single nucleotide polymorphisms associated with SLC26A4 gene.

DNAJC14 Ameliorates Inner Ear Degeneration in the DFNB4 Mouse Model.

Receptive language acquisition in a pediatric population with Pendred syndrome and non-syndromic enlarged vestibular aqueduct.

Gene therapy for hereditary hearing loss by SLC26A4 mutations in mice reveals distinct functional roles of pendrin in normal hearing.

Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA.

Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease-associated variants.

Comprehensive analysis of syndromic hearing loss patients in Japan.

Generation of a human iPS cell line (CGMH.SLC26A4919-2) from a Pendred syndrome patient carrying SLC26A4 c.919-2A>G splice-site mutation.

Congenital goitrous hypothyroidism is caused by dysfunction of the iodide transporter SLC26A7.

SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct.

A pathogenic variant in SLC26A4 is associated with Pendred syndrome in a consanguineous Iranian family.

A knock-in mouse model of Pendred syndrome with Slc26a4 L236P mutation.

Hoffmann's Syndrome Secondary to Pendred Syndrome: A Rare Case.

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis.

The Natural History of Hearing Loss in Pendred Syndrome and Non-Syndromic Enlarged Vestibular Aqueduct.

Estimating the concentration of therapeutic range using disease-specific iPS cells: Low-dose rapamycin therapy for Pendred syndrome.

Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features.

Cochlear implantation in a 10-year old boy with Pendred syndrome and extremely enlarged endolymphatic sacs.

Imaging Findings in Syndromes with Temporal Bone Abnormalities.

Targeted Next-Generation Sequencing Facilitates Genetic Diagnosis and Provides Novel Pathogenetic Insights into Deafness with Enlarged Vestibular Aqueduct.

CONGENITAL HYPOTHYROIDISM AS A RISK FACTOR FOR CENTRAL HEARING PROCESS DISORDERS.

Homology of pendrin, sodium-iodide symporter and apical iodide transporter.

Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.

Permanent Childhood Hearing Impairment: Aetiological Evaluation of Infants identified through the Irish Newborn Hearing Screening Programme.

Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics.

[Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders].

Hereditary and familial thyroid tumours.

Hearing-impaired young people - a physician's guide .

Human SLC26A4/Pendrin STAS domain is a nucleotide-binding protein: Refolding and characterization for structural studies.

Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling.

Enlarged vestibular aqueduct: Audiological and genetical features in children and adolescents.

Genetic Alterations in Pendrin (SLC26A4) Gene in Adult Hypothyroid Patients.

Endocrine Glands and Hearing: Auditory Manifestations of Various Endocrine and Metabolic Conditions.

HASHIMOTO THYROIDITIS AND VESTIBULAR DYSFUNCTION.

Discovery of (2-aminophenyl)methanol as a new molecular chaperone that rescues the localization of P123S mutant pendrin stably expressed in HEK293 cells.

Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family.

[The clinical definition and etiology of Pendred syndrome (a review of the literature and clinical observations)].

Diagnosis and Management of Congenital Sensorineural Hearing Loss.

Cochlear Cell Modeling Using Disease-Specific iPSCs Unveils a Degenerative Phenotype and Suggests Treatments for Congenital Progressive Hearing Loss.

A Novel Mutation in SLC26A4 Causes Nonsyndromic Autosomal Recessive Hearing Impairment.

Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4.

Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.

Delayed diagnosis of Pendred syndrome.

Unresolved questions regarding human hereditary deafness.

Cochlear implantation in Pendred syndrome and non-syndromic enlarged vestibular aqueduct - clinical challenges, surgical results, and complications.

Further characterisation of the recently described SLC26A4 c.918+2T>C mutation and reporting of a novel variant predicted to be damaging.

A nationwide study on enlargement of the vestibular aqueduct in Japan.

The HSP70 co-chaperone DNAJC14 targets misfolded pendrin for unconventional protein secretion.

Overlapping expression of anion exchangers in the cochlea of a non-human primate suggests functional compensation.

Pendred Syndrome in a Newborn with Neck Swelling: A Case Report.

Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism.

Targeted Next-Generation Sequencing Analysis of a Pendred Syndrome-Associated Thyroid Carcinoma.

Effect of SLC26 anion transporter disease-causing mutations on the stability of the homologous STAS domain of E. coli DauA (YchM).

Genetics of Hearing Loss: Syndromic.

Correlation of vestibular aqueduct size with air-bone gap in enlarged vestibular aqueduct syndrome.

Patients with Pendred syndrome: is cochlear implantation beneficial?

Pendrin and anoctamin as mediators of apical iodide efflux in thyroid cells.

[Pendred syndrome and nonsyndromic related deafness: a same entity?].