Associated Papers
Functional characterization of novel compound heterozygous missense SLC5A5 gene variants causing congenital dyshormonogenic hypothyroidism.
Carro GH et al.
Frontiers in Endocrinology, 2024
Structural insights into the mechanism of the sodium/iodide symporter.
Ravera S et al.
Nature, 2022
Brief Report: A Novel Sodium/Iodide Symporter Mutation, S356F, Causing Congenital Hypothyroidism.
Durgia H et al.
Thyroid : Official Journal of the American Thyroid Association, 2022
Impact of the Mutational Landscape of the Sodium/Iodide Symporter in Congenital Hypothyroidism.
Martín M et al.
Thyroid : Official Journal of the American Thyroid Association, 2021
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.
Reyna-Neyra A et al.
Thyroid : Official Journal of the American Thyroid Association, 2021
A Novel SLC5A5 Variant Reveals the Crucial Role of Kinesin Light Chain 2 in Thyroid Hormonogenesis.
Martín M et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Novel Compound Heterozygous Pathogenic Mutations of SLC5A5 in a Chinese Patient With Congenital Hypothyroidism.
Zhang CX et al.
Frontiers in Endocrinology, 2021
Novel Sodium/Iodide Symporter Compound Heterozygous Pathogenic Variants Causing Dyshormonogenic Congenital Hypothyroidism.
Martín M et al.
Thyroid : Official Journal of the American Thyroid Association, 2019
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