The iodide transporter Slc26a7 impacts thyroid function more strongly than Slc26a4 in mice
Scientific Reports, 2022 SLC26A4 is a known iodide transporter, and is localized at the apical membrane of thyrocytes. Previously, we reported that SLC26A7 is also involved in iodide transport and that Slc26a7 is a novel causative gene for congenital hypothyroidism. However, its
Naoya Yamaguchi +14 more
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Clinical and Translational Discovery, Volume 6, Issue 5, October 2026.Current Management & Limitations: Traditional auditory devices lack genetic curative potential and yield variable, non‐physiological hearing outcomes. OTOF gene therapy has shown promising clinical outcomes with dual‐AAV therapy. GJB2 gene therapy remains an emerging approach with significant translational challenges. Advances in vector design and cell‐
Jiahui Zhao, Mengzhao Xun, Yu Sun
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Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA [PDF]
Proceedings of the National Academy of Sciences, 2008 Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss, with malformations of the inner ear, ranging from enlarged vestibular aqueduct (EVA) to Mondini malformation, and deficient iodide organification in the thyroid gland.
A. Pera +9 more
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Impacts of changes in SLC26A4 gene due to amino acid substitution predicted by SNPNEXUS and SNAP2.
, 2020 Impacts of changes in SLC26A4 gene due to amino acid substitution predicted by SNPNEXUS and SNAP2.
Syed Hassan Abbas (8351400) +8 more
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Single-cell RNA-sequencing of stria vascularis cells in the adult Slc26a4 -/- mouse
BMC Medical Genomics, 2023 Background The primary pathological alterations of Pendred syndrome are endolymphatic pH acidification and luminal enlargement of the inner ear. However, the molecular contributions of specific cell types remain poorly characterized.
Jin-Young Koh +8 more
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Diagnostics, 2021 Hereditary hearing loss (HL) is known to be highly locus/allelic heterogeneous, and the prevalence of different HL forms significantly varies among populations worldwide. Investigation of region-specific landscapes of hereditary HL is important for local
Valeriia Yu. Danilchenko +7 more
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The HEAT Repeat Protein MROH1 Deficiency Leads to Reduced Circulating Thyroid Hormone Levels in Mice
Endocrinology, Diabetes &Metabolism, Volume 9, Issue 5, September 2026.Global Mroh1 deficiency in male mice is associated with reduced circulating thyroid hormone level, late‐onset thyroid follicular remodelling, and lower whole‐thyroid abundance of Nkx2‐1, Foxe1, and Tg transcripts. These findings support a role for MROH1 in maintaining thyroid homeostasis and structural integrity.
Nami Ohuchi +12 more
wiley +1 more source
Goitrous Congenital Hypothyroidism and Hearing Impairment Associated with Mutations in the TPO and SLC26A4/PDS Genes [PDF]
The Journal of Clinical Endocrinology & Metabolism, 2006 Abstract Context: Pendred syndrome (PS) and thyroid peroxidase (TPO) deficiency are autosomal-recessive disorders that result in thyroid dyshormonogenesis. They share congenital hypothyroidism, goiter, and an iodide organification defect as common features.
Nicole, Pfarr +7 more
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Pendred Syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene [PDF]
Arquivos Brasileiros de Endocrinologia & Metabologia, 2008 Pendred Syndrome (PS) is an autossomal recessive disorder characterized by sensorineural deafness, goiter and iodide organification defect. The hearing loss is associated with inner ear abnormalities, ranging from an isolated enlarged vestibular aqueduct (EVA) to a typical coclear dysplasia.
Lofrano-Porto, Adriana +12 more
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Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome
Molecular MedicineBackground Pathogenic variants in the SLC26A4 gene, encoding for Cl−/HCO3 − and I− anion transporter pendrin, are associated with non-syndromic hearing loss with enlarged vestibular aqueduct (NSEVA) and Pendred syndrome (PDS). In the Caucasian population,
Marek Sklenar +9 more
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