{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T20:40:37Z","timestamp":1786653637893,"version":"build-2736575974"},"reference-count":22,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      Congenital hypothyroidism (CH) due to the thyroid dyshormonogenesis is more prevalent in Iran in comparison to other countries. Sodium iodide symporter (\n                      <jats:italic toggle=\"yes\">NIS<\/jats:italic>\n                      ) is one of the plasma membrane glycoproteins that is located on the basolateral side of thyroid follicular cells and mediates active I\n                      <jats:sup>\u2212<\/jats:sup>\n                      trapping into these cells. Playing a prominent role in thyroid hormone synthesis,\n                      <jats:italic toggle=\"yes\">NIS<\/jats:italic>\n                      gene mutations can be a cause of permanent CH with the etiology of dyshormonogenesis. The aim of this study was to investigate the occurrence of T354P mutation of the\n                      <jats:italic toggle=\"yes\">NIS<\/jats:italic>\n                      gene, in a group of children affected with permanent CH in Isfahan.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods:<\/jats:title>\n                    <jats:p>\n                      Thirty-five patients with the etiology of dyshormonogenesis, and 35 healthy children, collected between 2002 and 2011 in Isfahan Endocrine and Metabolism Research Center, were examined for T354P mutation of the\n                      <jats:italic toggle=\"yes\">NIS<\/jats:italic>\n                      gene by direct polymerase chain reaction-sequencing method.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>No T354P mutation was detected in any of the studied children.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>\n                      More subjects with confirmed iodide transport defects should be screened for detecting the frequency of different reported\n                      <jats:italic toggle=\"yes\">NIS<\/jats:italic>\n                      gene mutations in our population.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/2277-9175.180642","type":"journal-article","created":{"date-parts":[[2016,4,19]],"date-time":"2016-04-19T02:41:06Z","timestamp":1461033666000},"update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":1,"title":["Analysis of the T354P mutation of the sodium\/iodide cotransporter gene in children with congenital hypothyroidism due to dyshormonogenesis"],"prefix":"10.4103","volume":"5","author":[{"given":"Hajar","family":"Miranzadeh-Mahabadi","sequence":"first","affiliation":[{"name":"Department of Genetics, School of Basic Sciences, Shahrekord University, Shahrekord, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Modjtaba","family":"Emadi-Baygi","sequence":"additional","affiliation":[{"name":"Department of Genetics, School of Basic Sciences, Shahrekord University, Shahrekord, Iran"},{"name":"Institute of Biotechnology, School of Basic Sciences, Shahrekord University, Shahrekord, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Parvaneh","family":"Nikpour","sequence":"additional","affiliation":[{"name":"Applied Physiology Research Center, Isfahan University of Medical Sciences, Isfahan, Iran"},{"name":"Department of Genetics and Molecular Biology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran"},{"name":"Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neda","family":"Mostofizade","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silva","family":"Hovsepian","sequence":"additional","affiliation":[{"name":"Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran"},{"name":"Department of Pediatrics, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahin","family":"Hashemipour","sequence":"additional","affiliation":[{"name":"Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran"},{"name":"Department of Pediatrics, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2016,4,19]]},"reference":[{"issue":"Suppl 4","key":"R1-20251008","first-page":"19","article-title":"Epidemiology of congenital hypothyroidism","volume":"105","author":"Klett","year":"1997","journal-title":"Exp Clin Endocrinol Diabetes"},{"key":"R2-20251008","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1016\/j.ymgme.2007.03.012","article-title":"Increase in congenital hypothyroidism in New York State and in the United States","volume":"91","author":"Harris","year":"2007","journal-title":"Mol Genet Metab"},{"key":"R3-20251008","first-page":"79","article-title":"Prevalence of congenital hypothyroidism in Isfahan, Iran: Results of a survey on 20,000 neonates","volume":"62","author":"Hashemipour","year":"2004","journal-title":"Horm Res"},{"key":"R4-20251008","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1186\/1750-1172-5-17","article-title":"Congenital hypothyroidism","volume":"5","author":"Rastogi","year":"2010","journal-title":"Orphanet J Rare Dis"},{"key":"R5-20251008","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1136\/jmg.2004.024158","article-title":"Genetics of congenital hypothyroidism","volume":"42","author":"Park","year":"2005","journal-title":"J Med Genet"},{"key":"R7-20251008","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1159\/000182549","article-title":"Comparison of epidemiological data on congenital hypothyroidism in Europe with those of other parts in the world","volume":"38","author":"Toublanc","year":"1992","journal-title":"Horm Res"},{"key":"R8-20251008","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1111\/j.1651-2227.1991.tb11953.x","article-title":"Circulating thyroid antibodies in congenital hypothyroidism","volume":"80","author":"Ilicki","year":"1991","journal-title":"Acta Paediatr Scand"},{"key":"R9-20251008","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1007\/BF03344029","article-title":"Sustainable control of iodinedeficiency in Iran: Beneficial results of the implementation of the mandatory law on salt iodization","volume":"25","author":"Azizi","year":"2002","journal-title":"J Endocrinol Invest"},{"key":"R10-20251008","doi-asserted-by":"crossref","first-page":"347","DOI":"10.4158\/EP.8.5.347","article-title":"Comparison of urinary iodine excretion in neonates and their mothers in Isfahan, Iran","volume":"8","author":"Hashemipoor","year":"2002","journal-title":"Endocr Pract"},{"key":"R11-20251008","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1034\/j.1399-0004.2003.00107.x","article-title":"Development of the thyroid gland: Lessons from congenitally hypothyroid mice and men","volume":"63","author":"Van Vliet","year":"2003","journal-title":"Clin Genet"},{"key":"R12-20251008","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1038\/1294","article-title":"Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia","volume":"19","author":"Clifton-Bligh","year":"1998","journal-title":"Nat Genet"},{"key":"R13-20251008","doi-asserted-by":"crossref","first-page":"3962","DOI":"10.1210\/jcem.86.8.7765","article-title":"A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: Evidence for phenotypic variability in mother and child","volume":"86","author":"Congdon","year":"2001","journal-title":"J Clin Endocrinol Metab"},{"key":"R14-20251008","doi-asserted-by":"crossref","first-page":"4285","DOI":"10.1210\/jc.2004-0166","article-title":"Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid","volume":"89","author":"Meeus","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"key":"R15-20251008","doi-asserted-by":"crossref","first-page":"4136","DOI":"10.1210\/jc.2004-0494","article-title":"Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: Phenotypic variability and founder effect","volume":"89","author":"Borck","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"key":"R16-20251008","doi-asserted-by":"crossref","first-page":"3555","DOI":"10.1210\/endo.138.8.5262","article-title":"Expression, exon-intron organization, and chromosome mapping of the human sodium iodide symporter","volume":"138","author":"Smanik","year":"1997","journal-title":"Endocrinology"},{"key":"R17-20251008","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1016\/j.mce.2010.02.007","article-title":"Genetics and phenomics of hypothyroidism and goiter due to NIS mutations","volume":"322","author":"Spitzweg","year":"2010","journal-title":"Mol Cell Endocrinol"},{"key":"R18-20251008","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.1152\/physrev.2000.80.3.1083","article-title":"Molecular analysis of the sodium\/iodide symporter: Impact on thyroid and extrathyroid pathophysiology","volume":"80","author":"De La Vieja","year":"2000","journal-title":"Physiol Rev"},{"key":"R19-20251008","first-page":"57","article-title":"The G395R mutation of the Sodium\/Iodide symporter (NIS) gene in patients with dyshormonogenetic congenital hypothyroidism","volume":"4","author":"Mostofizade","year":"2013","journal-title":"Int J Prev Med"},{"key":"R20-20251008","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1038\/ng0697-124","article-title":"Congenital hypothyroidism caused by a mutation in the Na+\/I- symporter","volume":"16","author":"Fujiwara","year":"1997","journal-title":"Nat Genet"},{"key":"R21-20251008","first-page":"2940","article-title":"Recurrent T354P mutation of the Na+\/I- symporter in patients with iodide transport defect","volume":"83","author":"Fujiwara","year":"1998","journal-title":"J Clin Endocrinol Metab"},{"key":"R22-20251008","first-page":"4123","article-title":"High prevalence of T354P sodium\/iodide symporter gene mutation in Japanese patients with iodide transport defect who have heterogeneous clinical pictures","volume":"83","author":"Kosugi","year":"1998","journal-title":"J Clin Endocrinol Metab"},{"key":"R23-20251008","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1046\/j.1365-2265.2002.01640.x","article-title":"The sodium iodide symporter: Its pathophysiological and therapeutic implications","volume":"57","author":"Spitzweg","year":"2002","journal-title":"Clin Endocrinol (Oxf)"}],"container-title":["Advanced Biomedical Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/01679891-201605000-00073","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T19:40:21Z","timestamp":1786650021000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/01679891-201605000-00073"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,1]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2016]]}},"URL":"https:\/\/doi.org\/10.4103\/2277-9175.180642","relation":{},"ISSN":["2277-9175"],"issn-type":[{"value":"2277-9175","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,1]]},"assertion":[{"value":"2014-12-05","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2015-10-13","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}