Associated Papers
Clinical efficacy of multigene panels in the management of congenital hypothyroidism with gland in situ.
Park J et al.
Medicine, 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
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
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
Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.
Park KS
Genes, 2021
Genetics of primary congenital hypothyroidism-a review.
Kostopoulou E et al.
Hormones (athens, Greece), 2021
Novel Compound Heterozygous Pathogenic Mutations of SLC5A5 in a Chinese Patient With Congenital Hypothyroidism.
Zhang CX et al.
Frontiers in Endocrinology, 2021
Mapping of Ion and Substrate Binding Sites in Human Sodium Iodide Symporter (hNIS).
Zhekova HR et al.
Journal of Chemical Information and Modeling, 2020
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
An extremely high dietary iodide supply forestalls severe hypothyroidism in Na+/I- symporter (NIS) knockout mice.
Ferrandino G et al.
Scientific Reports, 2017
The Sodium/Iodide Symporter (NIS): Molecular Physiology and Preclinical and Clinical Applications.
Ravera S et al.
Annual Review of Physiology, 2017
A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.
Park KJ et al.
Annals of Laboratory Medicine, 2016
Papillary thyroid cancer in a patient with congenital goitrous hypothyroidism due to a novel deletion in NIS gene.
Agretti P et al.
Endocrine, 2016
A systematic evaluation of sorting motifs in the sodium-iodide symporter (NIS).
Darrouzet E et al.
The Biochemical Journal, 2016
Analysis of the T354P mutation of the sodium/iodide cotransporter gene in children with congenital hypothyroidism due to dyshormonogenesis.
Miranzadeh-Mahabadi H et al.
Advanced Biomedical Research, 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
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
[Genetics of thyroid diseases].
Hishinuma A
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2012
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
Diagnosis of iodide transport defect: do we need to measure the saliva/serum radioactive iodide ratio to diagnose iodide transport defect?
Fukata S et al.
Thyroid : Official Journal of the American Thyroid Association, 2010
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
Characterization of Thr-354 in the human sodium/iodide symporter (NIS) by site-directed mutagenesis.
Tatsumi KI et al.
Endocrine Journal, 2010
Congenital hypothyroidism and late-onset goiter: identification and characterization of a novel mutation in the sodium/iodide symporter of the proband and family members.
Montanelli L et al.
Thyroid : Official Journal of the American Thyroid Association, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
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
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
Genetics of congenital hypothyroidism.
Park SM et al.
Journal of Medical Genetics, 2005
[Relationship between T354P mutation of the human sodium/iodine symporter and congenital hypothyroidism].
Zhao Z et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2004
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
Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect.
Nascimento AC et al.
Thyroid : Official Journal of the American Thyroid Association, 2003
Congenital hypothyroidism due to a new deletion in the sodium/iodide symporter protein.
Tonacchera M et al.
Clinical Endocrinology, 2003
An outline of inherited disorders of the thyroid hormone generating system.
Knobel M et al.
Thyroid : Official Journal of the American Thyroid Association, 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