{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T21:20:57Z","timestamp":1780435257755,"version":"3.54.1"},"reference-count":21,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2016,10,1]],"date-time":"2016-10-01T00:00:00Z","timestamp":1475280000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2016,10,1]],"date-time":"2016-10-01T00:00:00Z","timestamp":1475280000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hormones"],"published-print":{"date-parts":[[2016,10]]},"DOI":"10.14310\/horm.2002.1700","type":"journal-article","created":{"date-parts":[[2016,10,23]],"date-time":"2016-10-23T10:41:01Z","timestamp":1477219261000},"page":"534-539","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A new TR\u03b2 mutation in resistance to thyroid hormone syndrome"],"prefix":"10.1007","volume":"15","author":[{"given":"Corina","family":"Neam\u0163u","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudiu","family":"\u0162upea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"P\u0103un","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anca","family":"Hoisescu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adina","family":"Ghemigian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel","family":"Refetoff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chutintorn","family":"Sriphrapradang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2016,10,1]]},"reference":[{"key":"15040534_CR1","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1210\/jcem-27-2-279","volume":"27","author":"S Refetoff","year":"1967","unstructured":"Refetoff S, DeWind LT, DeGroot LJ, 1967 Familial Syndrome combining deaf-mutism, stippled epiphyses, goiter, and abnormally high PBI: possible target organ refractoriness to thyroid hormone. J Clin Endocrinol Metab 27: 279\u2013294.","journal-title":"J Clin Endocrinol Metab"},{"key":"15040534_CR2","first-page":"348","volume":"14","author":"S Refetoff","year":"1993","unstructured":"Refetoff S, Weiss RE, Usala SJ, 1993 The syndromes of resistance to thyroid hormone. Endocr Rev 14: 348\u2013399.","journal-title":"Endocr Rev"},{"key":"15040534_CR3","unstructured":"Dumitrescu AM, Refetoff S, 2015 Impaired Sensitivity to Thyroid Hormone: Defects of Transport, Metabolism and Action. Thyroid Manager (https:\/\/doi.org\/thyroidmanager.org)."},{"key":"15040534_CR4","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1007\/BF03401322","volume":"13","author":"AJ Amor","year":"2014","unstructured":"Amor AJ, Halperin I, Alfayate R, et al, 2014 Identification of four novel mutations in the thyroid hormone receptor-\u03b2 gene in 164 Spanish and 2 Greek patients with resistance to thyroid hormone. Hormones (Athens) 13: 74\u201378.","journal-title":"Hormones (Athens)"},{"key":"15040534_CR5","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1007\/BF03348305","volume":"4","author":"JL Vandalem","year":"1981","unstructured":"Vandalem JL, Pirens G, Hennen G, 1981 Familial inappropriate TSH secretion: evidence suggesting a dissociated pituitary resistance to T3 and T4. J Endocrinol Invest 4: 413\u2013422.","journal-title":"J Endocrinol Invest"},{"key":"15040534_CR6","doi-asserted-by":"publisher","first-page":"763","DOI":"10.1001\/archinte.1982.00340170119020","volume":"142","author":"CP Barsano","year":"1982","unstructured":"Barsano CP, Skosey C, DeGroot LJ, et al, 1982 Serum thyroglobulin in the management of patients with thyroid cancer. Arch Intern Med 142: 763\u2013767.","journal-title":"Arch Intern Med"},{"key":"15040534_CR7","doi-asserted-by":"publisher","first-page":"506","DOI":"10.1172\/JCI117362","volume":"94","author":"M Adams","year":"1994","unstructured":"Adams M, Matthews C, Collingwood TN, Tone Y, Beck-Peccoz P, Chatterjee KK, 1994 Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene. J Clin Invest 94: 506\u2013515.","journal-title":"J Clin Invest"},{"key":"15040534_CR8","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1210\/jcem-72-1-32","volume":"72","author":"SJ Usala","year":"1991","unstructured":"Usala SJ, Menke JB, Watson TL, et al, 1991 A new point mutation in the 3,5,3\u2032-triiodothyronine-binding domain of the c-erbA\u03b2 thyroid hormone receptor is tightly linked to generalized resistance to thyroid hormone. J Clin Endocrinol Metab 72: 32\u201338.","journal-title":"J Clin Endocrinol Metab"},{"key":"15040534_CR9","first-page":"845","volume-title":"Werner & Ingbar\u2019s The Thyroid: A Fundamental and Clinical Text","author":"AM Dumitrescu","year":"2013","unstructured":"Dumitrescu AM, Refetoff S, 2013 Reduced sensitivity to thyroid hormone: defects of transport, metabolism and action. In Werner & Ingbar\u2019s The Thyroid: A Fundamental and Clinical Text. Braverman, LE, Cooper DS (eds), Wolters Kluver\/Lippincott, Williams & Wilkins Publications, Philadelphia, PA, pp; 845\u2013873."},{"key":"15040534_CR10","doi-asserted-by":"publisher","first-page":"392","DOI":"10.1016\/j.ejmg.2010.08.001","volume":"53","author":"L Boccone","year":"2010","unstructured":"Boccone L, Mariotti S, Dessi V, Pruna D, Meloni A, Loudianos G, 2010 Allan-Herndon-Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH. Eur J Med Genet 53: 392\u2013395.","journal-title":"Eur J Med Genet"},{"key":"15040534_CR11","doi-asserted-by":"publisher","first-page":"1247","DOI":"10.1038\/ng1654","volume":"37","author":"AM Dumitrescu","year":"2005","unstructured":"Dumitrescu AM, Liao XH, Abdullah MS, et al, 2005 Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. Nat Genet 37: 1247\u20131252.","journal-title":"Nat Genet"},{"key":"15040534_CR12","doi-asserted-by":"publisher","first-page":"1044","DOI":"10.1373\/clinchem.2008.120303","volume":"55","author":"D Cartwright","year":"2009","unstructured":"Cartwright D, O\u2019Shea P, Rajanayagam O, et al, 2009 Familial dysalbuminemic hyperthyroxinemia: a persistent diagnostic challenge. Clin Chem 55: 1044\u20131046.","journal-title":"Clin Chem"},{"key":"15040534_CR13","doi-asserted-by":"publisher","first-page":"1115","DOI":"10.1016\/0002-9343(81)90885-8","volume":"70","author":"MM Kaplan","year":"1981","unstructured":"Kaplan MM, Swartz SL, Larsen PR, 1981 Partial peripheral resistance to thyroid hormone. Am J Med 70: 1115\u20131121.","journal-title":"Am J Med"},{"key":"15040534_CR14","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1089\/thy.1991.1.361","volume":"1","author":"SJ Usala","year":"1991","unstructured":"Usala SJ, 1991 Molecular diagnosis and characterization of resistance to thyroid hormone syndromes. Thyroid 1: 361\u2013367.","journal-title":"Thyroid"},{"key":"15040534_CR15","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.mce.2003.10.033","volume":"213","author":"JH Bassett","year":"2003","unstructured":"Bassett JH, Harvey CB, Williams GR, 2003 Mechanisms of thyroid hormone receptor-specific nuclear and extra nuclear actions. Mol Cell Endocrinol 213: 1\u201311.","journal-title":"Mol Cell Endocrinol"},{"key":"15040534_CR16","first-page":"49","volume":"74","author":"K Takeda","year":"1992","unstructured":"Takeda K, Sakurai A, DeGroot LJ, Refetoff S, 1992 Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-\u03b2 gene. J Clin Endocrinol Metab 74: 49\u201355.","journal-title":"J Clin Endocrinol Metab"},{"key":"15040534_CR17","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1056\/NEJMoa1110296","volume":"366","author":"E Bochukova","year":"2012","unstructured":"Bochukova E, Schoenmakers N, Agostini M, et al, 2012 A Mutation in the Thyroid Hormone Receptor Alpha Gene. N Engl J Med 366: 243\u2013249.","journal-title":"N Engl J Med"},{"key":"15040534_CR18","doi-asserted-by":"publisher","first-page":"470","DOI":"10.1210\/mend.11.4.9914","volume":"11","author":"SM Yoh","year":"1997","unstructured":"Yoh SM, Chatterjee VKK, Privalsky ML, 1997 Resistance to thyroid hormone syndrome manifests as an aberrant interaction between mutant T3 receptor and transcriptional corepressor. Mol Endocrinol 11: 470\u2013480.","journal-title":"Mol Endocrinol"},{"key":"15040534_CR19","doi-asserted-by":"publisher","first-page":"1977","DOI":"10.1172\/JCI115225","volume":"87","author":"VKK Chatterjee","year":"1991","unstructured":"Chatterjee VKK, Nagaya T, Madison LD, Datta S, Rantoumis A, Jameson JL, 1991 Thyroid hormone resistance syndrome. Inhibition of normal receptor function by mutant thyroid hormone receptors. J Clin Invest 87: 1977\u20131984.","journal-title":"J Clin Invest"},{"key":"15040534_CR20","doi-asserted-by":"publisher","first-page":"3246","DOI":"10.1210\/jcem.80.11.7593433","volume":"80","author":"Y Hayashi","year":"1995","unstructured":"Hayashi Y, Weiss RE, Same DH, et al, 1995 Do clinical manifestations of resistance to thyroid hormone correlate with the functional alteration of the corresponding mutant thyroid hormone-\u03b2 receptors? J Clin Endocrinol Metab 80: 3246\u20133256.","journal-title":"J Clin Endocrinol Metab"},{"key":"15040534_CR21","doi-asserted-by":"publisher","first-page":"1867","DOI":"10.1001\/archinte.1982.00340230113020","volume":"142","author":"JP Bantle","year":"1982","unstructured":"Bantle JP, Seeling S, Mariash CN, Ulstrom RA, Oppenheimer JH, 1982 Resistance to thyroid hormones: A disorder frequently confused with Graves\u2019 disease. Arch Intern Med 142: 1867\u20131871.","journal-title":"Arch Intern Med"}],"container-title":["Hormones"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.14310\/horm.2002.1700.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.14310\/horm.2002.1700\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.14310\/horm.2002.1700.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,9]],"date-time":"2025-02-09T15:39:55Z","timestamp":1739115595000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.14310\/horm.2002.1700"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,10]]},"references-count":21,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2016,10]]}},"alternative-id":["15040534"],"URL":"https:\/\/doi.org\/10.14310\/horm.2002.1700","relation":{},"ISSN":["1109-3099","2520-8721"],"issn-type":[{"value":"1109-3099","type":"print"},{"value":"2520-8721","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,10]]},"assertion":[{"value":"13 June 2016","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 September 2016","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 October 2016","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}