{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T06:24:17Z","timestamp":1777875857742,"version":"3.51.4"},"reference-count":4,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T00:00:00Z","timestamp":1643673600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T00:00:00Z","timestamp":1643673600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Thyroid\u00ae"],"published-print":{"date-parts":[[2022,2]]},"abstract":"<jats:p>The sodium-iodide symporter (NIS, SLC5A5) is expressed at the basolateral membrane of the thyroid follicular cell, and facilitates the thyroidal iodide uptake required for thyroid hormone biosynthesis. Biallelic loss-of-function mutations in NIS are a rare cause of dyshormonogenic congenital hypothyroidism. Affected individuals typically exhibit a normally sited, often goitrous thyroid gland, with absent uptake of radioiodine in the thyroid and other NIS-expressing tissues. We report a novel homozygous NIS mutation (c.1067 C&gt;T, p.S356F) in four siblings from a consanguineous Indian kindred, presenting with significant hypothyroidism. Functional characterization of the mutant protein demonstrated impaired plasma membrane localization and cellular iodide transport.<\/jats:p>","DOI":"10.1089\/thy.2021.0478","type":"journal-article","created":{"date-parts":[[2021,11,22]],"date-time":"2021-11-22T05:30:05Z","timestamp":1637559005000},"page":"215-218","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["Brief Report: A Novel Sodium\/Iodide Symporter Mutation, S356F, Causing Congenital Hypothyroidism"],"prefix":"10.1177","volume":"32","author":[{"given":"Harsh","family":"Durgia","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, India."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adeline K.","family":"Nicholas","sequence":"additional","affiliation":[{"name":"University of Cambridge Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, United Kingdom."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erik","family":"Schoenmakers","sequence":"additional","affiliation":[{"name":"University of Cambridge Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, United Kingdom."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer A.","family":"Dickens","sequence":"additional","affiliation":[{"name":"Cambridge Institute for Medical Research, Cambridge, United Kingdom."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dhanapathi","family":"Halanaik","sequence":"additional","affiliation":[{"name":"Department of Nuclear Medicine, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, India."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8805-143X","authenticated-orcid":false,"given":"Jayaprakash","family":"Sahoo","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, India."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sadishkumar","family":"Kamalanathan","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, India."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadia","family":"Schoenmakers","sequence":"additional","affiliation":[{"name":"University of Cambridge Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, United Kingdom."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2022,2,10]]},"reference":[{"key":"e_1_3_6_2_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-1832"},{"key":"e_1_3_6_3_2","first-page":"1272","volume-title":"et al","author":"Reyna-Neyra A","unstructured":"Reyna-Neyra A, , Jung L, , Chakrabarti M, et al. 2021 The iodide transport defect-causing Y348D mutation in the Na(+)\/I(\u2212) symporter renders the protein intrinsically inactive and impairs its targeting to the plasma membrane. Thyroid 31, 1272\u20131281."},{"key":"e_1_3_6_4_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M700147200"},{"key":"e_1_3_6_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-018-2645-9"}],"container-title":["Thyroid\u00ae"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1089\/thy.2021.0478","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/thy.2021.0478","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/thy.2021.0478","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T22:08:45Z","timestamp":1777586925000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1089\/thy.2021.0478"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2]]},"references-count":4,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2022,2]]}},"alternative-id":["10.1089\/thy.2021.0478"],"URL":"https:\/\/doi.org\/10.1089\/thy.2021.0478","relation":{},"ISSN":["1050-7256","1557-9077"],"issn-type":[{"value":"1050-7256","type":"print"},{"value":"1557-9077","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,2]]}}}