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References

These sources were used to develop the Genetics Home Reference gene summary on the SLC5A5 gene.

De La Vieja A, Dohan O, Levy O, Carrasco N. Molecular analysis of the sodium/iodide symporter: impact on thyroid and extrathyroid pathophysiology. Physiol Rev. 2000 Jul;80(3):1083-105. Review. PubMed citation
Dohán O, Carrasco N. Advances in Na(+)/I(-) symporter (NIS) research in the thyroid and beyond. Mol Cell Endocrinol. 2003 Dec 31;213(1):59-70. Review. PubMed citation
Dohán O, De la Vieja A, Paroder V, Riedel C, Artani M, Reed M, Ginter CS, Carrasco N. The sodium/iodide Symporter (NIS): characterization, regulation, and medical significance. Endocr Rev. 2003 Feb;24(1):48-77. Review. PubMed citation
Entrez Gene
Fujiwara H, Tatsumi K, Miki K, Harada T, Miyai K, Takai S, Amino N. Congenital hypothyroidism caused by a mutation in the Na+/I- symporter. Nat Genet. 1997 Jun;16(2):124-5. Erratum in: Nat Genet. 1997 Sep;17(1):122. PubMed citation
OMIM: SOLUTE CARRIER FAMILY 5 (SODIUM IODIDE SYMPORTER), MEMBER 5
Pohlenz J, Refetoff S. Mutations in the sodium/iodide symporter (NIS) gene as a cause for iodide transport defects and congenital hypothyroidism. Biochimie. 1999 May;81(5):469-76. Review. PubMed citation
Spitzweg C, Morris JC. The sodium iodide symporter: its pathophysiological and therapeutic implications. Clin Endocrinol (Oxf). 2002 Nov;57(5):559-74. Review. PubMed citation
Szinnai G, Kosugi S, Derrien C, Lucidarme N, David V, Czernichow P, Polak M. 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. J Clin Endocrinol Metab. 2006 Apr;91(4):1199-204. Epub 2006 Jan 17. PubMed citation


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