Associated Papers
Novel Compound Heterozygous Pathogenic Mutations of SLC5A5 in a Chinese Patient With Congenital Hypothyroidism.
Zhang CX et al.
Frontiers in Endocrinology, 2021
The Sodium/Iodide Symporter (NIS): Molecular Physiology and Preclinical and Clinical Applications.
Ravera S et al.
Annual Review of Physiology, 2017
The potential role of the sodium iodide symporter gene polymorphism in the development of differentiated thyroid cancer.
Al-Rasheed MM et al.
Gene, 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
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
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
Failure of membrane targeting causes the functional defect of two mutant sodium iodide symporters.
Pohlenz J et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
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
Molecular pathogenesis of neonatal hypothyroidism.
Krude H et al.
Hormone Research, 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
Recurrent T354P mutation of the Na+/I- symporter in patients with iodide transport defect.
Fujiwara H et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
Pathological Findings in Dyshormonogenetic Goiter with Defective Iodide Transport.
Camargo RY et al.
Endocrine Pathology, 1998
Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene.
Pohlenz J et al.
Biochemical and Biophysical Research Communications, 1997