Pendred Syndrome Latest Advances

Congenital hearing loss in children

Journal: Ugeskrift for laeger

Published: October 23, 2025

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

Journal: International journal of molecular sciences

Published: August 27, 2025

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

Journal: 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

Published: June 30, 2025

Prevalence of pendrin defects in sudanese families with congenital hypothyroidism.

Journal: Endocrine

Published: April 30, 2025

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

Journal: International journal of molecular sciences

Published: March 31, 2025

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

Journal: Molecular medicine (Cambridge, Mass.)

Published: March 26, 2025

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

Journal: PloS one

Published: November 29, 2024

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

Journal: Case reports in endocrinology

Published: November 09, 2024

Foxi1 regulates multiple steps of mucociliary development and ionocyte specification through transcriptional and epigenetic mechanisms.

Journal: bioRxiv : the preprint server for biology

Published: November 01, 2024

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

Journal: bioRxiv : the preprint server for biology

Published: November 01, 2024

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

Journal: International journal of molecular medicine

Published: October 08, 2024

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).

Journal: Vavilovskii zhurnal genetiki i selektsii

Published: August 15, 2024

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Congenital hearing loss in children

Congenital hearing loss in children

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

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

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

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

Prevalence of pendrin defects in sudanese families with congenital hypothyroidism.

Prevalence of pendrin defects in sudanese families with congenital hypothyroidism.

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

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.

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

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

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

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

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

Foxi1 regulates multiple steps of mucociliary development and ionocyte specification through transcriptional and epigenetic mechanisms.

Foxi1 regulates multiple steps of mucociliary development and ionocyte specification through transcriptional and epigenetic mechanisms.

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

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

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

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

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).

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).