Sodium/iodide Symporter Mutant V270E causes stunted growth but no cognitive deficiency

dc.creatorNicola, Juan Pablo
dc.creatorReyna Neyra, Andrea
dc.creatorSaenger, Paul
dc.creatorRodriguez Buritica, David F.
dc.creatorGamez Godoy, José David
dc.creatorMuzumdar, Radhika
dc.creatorAmzel, Mario
dc.creatorCarrasco, Nancy
dc.date.accessioned2018-05-24T17:41:14Z
dc.date.accessioned2018-11-06T14:19:57Z
dc.date.available2018-05-24T17:41:14Z
dc.date.available2018-11-06T14:19:57Z
dc.date.created2018-05-24T17:41:14Z
dc.date.issued2015-10-01
dc.identifierNicola, Juan Pablo; Reyna Neyra, Andrea; Saenger, Paul; Rodriguez Buritica, David F.; Gamez Godoy, José David; et al.; Sodium/iodide Symporter Mutant V270E causes stunted growth but no cognitive deficiency; Endocrine Society; Journal of Clinical Endocrinology and Metabolism; 100; 10; 1-10-2015; E1353-E1361
dc.identifier0021-972X
dc.identifierhttp://hdl.handle.net/11336/46107
dc.identifier1945-7197
dc.identifierCONICET Digital
dc.identifierCONICET
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1885299
dc.description.abstractIodide (I−), an essential constituent of the thyroid hormones, is actively accumulated in the thyroid by the Na+/I− symporter (NIS), a key plasma membrane protein encoded by the slc5a5 gene. Mutations in slc5a5 cause I− transport defects (ITDs), autosomal-recessive disorders in which I− accumulation is totally or partially impaired, leading to congenital hypothyroidism. The characterization of NIS mutants has yielded significant insights into the molecular mechanism of NIS.
dc.languageeng
dc.publisherEndocrine Society
dc.relationinfo:eu-repo/semantics/altIdentifier/url/https://academic.oup.com/jcem/article/100/10/E1353/2835757
dc.relationinfo:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1210/jc.2015-1824
dc.rightshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.subjectIODIDE TRANSPORT DEFECT
dc.subjectCONGENITAL HYPOTHYROIDISM
dc.subjectSODIUM/IODIDE SYMPORTER
dc.subjectPLASMA MEMBRANE TARGETING
dc.titleSodium/iodide Symporter Mutant V270E causes stunted growth but no cognitive deficiency
dc.typeArtículos de revistas
dc.typeArtículos de revistas
dc.typeArtículos de revistas


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