Associated Papers
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
Silent but Not Harmless: A Synonymous SLC5A5 Gene Variant Leading to Dyshormonogenic Congenital Hypothyroidism.
Geysels RC et al.
Frontiers in Endocrinology, 2022
Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.
Park KS
Genes, 2021
First case of fetal goitrous hypothyroidism due to SLC5A5/NIS mutations.
Stoupa A et al.
European Journal of Endocrinology, 2020
The Sodium/Iodide Symporter (NIS): Molecular Physiology and Preclinical and Clinical Applications.
Ravera S et al.
Annual Review of Physiology, 2017
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
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
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
Conserved charged amino acid residues in the extracellular region of sodium/iodide symporter are critical for iodide transport activity.
Li CC et al.
Journal of Biomedical Science, 2010
Genetics and phenomics of hypothyroidism and goiter due to NIS mutations.
Spitzweg C et al.
Molecular and Cellular Endocrinology, 2010
Histidine residue at position 226 is critical for iodide uptake activity of human sodium/iodide symporter.
Wu SL et al.
The Journal of Endocrinology, 2008
Molecular characterization of V59E NIS, a Na+/I- symporter mutant that causes congenital I- transport defect.
Reed-Tsur MD et al.
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
Molecular analysis of a congenital iodide transport defect: G543E impairs maturation and trafficking of the Na+/I- symporter.
De la Vieja A et al.
Molecular Endocrinology (baltimore, Md.), 2005
Genetic factors that might lead to different responses in individuals exposed to perchlorate.
Scinicariello F et al.
Environmental Health Perspectives, 2005
The Q267E mutation in the sodium/iodide symporter (NIS) causes congenital iodide transport defect (ITD) by decreasing the NIS turnover number.
De La Vieja A et al.
Journal of Cell Science, 2004
Na(+)/I(-) symporter activity requires a small and uncharged amino acid residue at position 395.
Dohán O et al.
Molecular Endocrinology (baltimore, Md.), 2002
Mutations in the sodium/iodide symporter (NIS) gene as a cause for iodide transport defects and congenital hypothyroidism.
Pohlenz J et al.
Biochimie, 1999