Disease: Hypothyroidism due to iodide transport defect
- A Novel SLC5A5 Variant Reveals the Crucial Role of Kinesin Light Chain 2 in Thyroid Hormonogenesis
- An Intramolecular Ionic Interaction Linking Defective Sodium/Iodide Symporter Transport to the Plasma Membrane and Dyshormonogenic Congenital Hypothyroidism
- Clinical characteristics and genetics analysis for the ITD of congenital hypothyroidism
- Defective Levothyroxine Response in a Patient with Dyshormonogenic Congenital Hypothyroidism Caused by a Concurrent Pathogenic Variant in Thyroid Hormone Receptor-beta
- Defective Levothyroxine Response in a Patient with Dyshormonogenic Congenital Hypothyroidism Caused by a Concurrent Pathogenic Variant in Thyroid Hormone Receptor-β
- Genetic disorders of thyroid development, hormone biosynthesis and signalling
- Genetics of primary congenital hypothyroidism-a review
- High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis
- Impact of the Mutational Landscape of the Sodium/Iodide Symporter in Congenital Hypothyroidism
- Late-onset dyshormonogenic goitrous hypothyroidism due to a homozygous mutation of the SLC26A7 gene: a case report
- Murine Thyroid IL-4 Expression Worsens Hypothyroidism on Iodine Restriction and Mitigates Graves Disease Development
- Novel Compound Heterozygous Pathogenic Mutations of <em>SLC5A5</em> in a Chinese Patient With Congenital Hypothyroidism
- Novel Compound Heterozygous Pathogenic Mutations of SLC5A5 in a Chinese Patient With Congenital Hypothyroidism
- Silent but Not Harmless: A Synonymous <em>SLC5A5</em> Gene Variant Leading to Dyshormonogenic Congenital Hypothyroidism
- Silent but Not Harmless: A Synonymous SLC5A5 Gene Variant Leading to Dyshormonogenic Congenital Hypothyroidism
- Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect
- The Iodide Transport Defect-Causing Y348D Mutation in the Na(+)/I(-) Symporter Renders the Protein Intrinsically Inactive and Impairs Its Targeting to the Plasma Membrane
- The Iodide Transport Defect-Causing Y348D Mutation in the Na<sup>+</sup>/I<sup>-</sup> Symporter Renders the Protein Intrinsically Inactive and Impairs Its Targeting to the Plasma Membrane
- The PDZ protein SCRIB regulates sodium/iodide symporter (NIS) expression at the basolateral plasma membrane
- Thyroid Gene Mutations in Pregnant and Breastfeeding Women Diagnosed With Transient Congenital Hypothyroidism: Implications for the Offspring's Health