Associated Papers
Two Novel SLC5A5 Variants (Q263L and G350D) Causing Congenital Hypothyroidism.
Abe K et al.
Thyroid : Official Journal of the American Thyroid Association, 2025
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
An Intramolecular Ionic Interaction Linking Defective Sodium/Iodide Symporter Transport to the Plasma Membrane and Dyshormonogenic Congenital Hypothyroidism.
Bernal Barquero CE et al.
Thyroid : Official Journal of the American Thyroid Association, 2022
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
The PDZ protein SCRIB regulates sodium/iodide symporter (NIS) expression at the basolateral plasma membrane.
Martín M et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2021
Novel Compound Heterozygous Pathogenic Mutations of SLC5A5 in a Chinese Patient With Congenital Hypothyroidism.
Zhang CX et al.
Frontiers in Endocrinology, 2021
A Carboxy-Terminal Monoleucine-Based Motif Participates in the Basolateral Targeting of the Na+/I- Symporter.
Martín M et al.
Endocrinology, 2019
Clinical genetics of defects in thyroid hormone synthesis.
Kwak MJ
Annals of Pediatric Endocrinology & Metabolism, 2018
The Sodium/Iodide Symporter (NIS): Molecular Physiology and Preclinical and Clinical Applications.
Ravera S et al.
Annual Review of Physiology, 2017
A systematic evaluation of sorting motifs in the sodium-iodide symporter (NIS).
Darrouzet E et al.
The Biochemical Journal, 2016
Sodium/Iodide Symporter Mutant V270E Causes Stunted Growth but No Cognitive Deficiency.
Nicola JP et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Mutation screening of the sodium iodide symporter gene in a cohort of 105 China patients with congenital hypothyroidism.
Fu C et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2014
The sodium/iodide symporter: state of the art of its molecular characterization.
Darrouzet E et al.
Biochimica Et Biophysica Acta, 2014
Variable clinical phenotypes in a family with homozygous c.1159G>A mutation in the thyroid peroxidase gene.
Lee CC et al.
Hormone Research in Paediatrics, 2014
The iodide-transport-defect-causing mutation R124H: a δ-amino group at position 124 is critical for maturation and trafficking of the Na+/I- symporter.
Paroder V et al.
Journal of Cell Science, 2013
Asn441 plays a key role in folding and function of the Na+/I- symporter (NIS).
Li W et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2013
Genetic causes of congenital hypothyroidism due to dyshormonogenesis.
Grasberger H et al.
Current Opinion in Pediatrics, 2011
Iodide transport defect: functional characterization of a novel mutation in the Na+/I- symporter 5'-untranslated region in a patient with congenital hypothyroidism.
Nicola JP et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
Genetics and phenomics of hypothyroidism and goiter due to NIS mutations.
Spitzweg C et al.
Molecular and Cellular Endocrinology, 2010
Molecular characterization of V59E NIS, a Na+/I- symporter mutant that causes congenital I- transport defect.
Reed-Tsur MD et al.
Endocrinology, 2008
Comparison of expressed human and mouse sodium/iodide symporters reveals differences in transport properties and subcellular localization.
Dayem M et al.
The Journal of Endocrinology, 2008
Extending the clinical heterogeneity of iodide transport defect (ITD): a novel mutation R124H of the sodium/iodide symporter gene and review of genotype-phenotype correlations in ITD.
Szinnai G et al.
The Journal of Clinical Endocrinology and Metabolism, 2006