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
Novel Compound Heterozygous Pathogenic Mutations of SLC5A5 in a Chinese Patient With Congenital Hypothyroidism.
Zhang CX et al.
Frontiers in Endocrinology, 2021
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
The Sodium/Iodide Symporter (NIS): Molecular Physiology and Preclinical and Clinical Applications.
Ravera S et al.
Annual Review of Physiology, 2017
The miR-146b-3p/PAX8/NIS Regulatory Circuit Modulates the Differentiation Phenotype and Function of Thyroid Cells during Carcinogenesis.
Riesco-Eizaguirre G et al.
Cancer Research, 2015
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 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
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
The G395R Mutation of the Sodium/Iodide Symporter (NIS) Gene in Patients with Dyshormonogenetic Congenital Hypothyroidism.
Mostofizade N et al.
International Journal of Preventive Medicine, 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
Minireview: The sodium-iodide symporter NIS and pendrin in iodide homeostasis of the thyroid.
Bizhanova A et al.
Endocrinology, 2009
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
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
A novel loss-of-function deletion in sodium/iodide symporter gene in follicular thyroid adenoma.
Liang JA et al.
Cancer Letters, 2005
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
Congenital hypothyroidism due to a new deletion in the sodium/iodide symporter protein.
Tonacchera M et al.
Clinical Endocrinology, 2003
Na(+)/I(-) symporter activity requires a small and uncharged amino acid residue at position 395.
Dohán O et al.
Molecular Endocrinology (baltimore, Md.), 2002
A novel peculiar mutation in the sodium/iodide symporter gene in spanish siblings with iodide transport defect.
Kosugi S et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
A novel V59E missense mutation in the sodium iodide symporter gene in a family with iodide transport defect.
Fujiwara H et al.
Thyroid : Official Journal of the American Thyroid Association, 2000
A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect.
Kosugi S et al.
The Journal of Clinical Endocrinology and Metabolism, 1999
Mutations in the sodium/iodide symporter (NIS) gene as a cause for iodide transport defects and congenital hypothyroidism.
Pohlenz J et al.
Biochimie, 1999
Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients.
Kosugi S et al.
The Journal of Clinical Endocrinology and Metabolism, 1998