{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T13:05:08Z","timestamp":1790946308116,"version":"4.1.0"},"reference-count":26,"publisher":"Japanese Society for Pediatric Endocrinology","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clin Pediatr Endocrinol"],"published-print":{"date-parts":[[2016]]},"DOI":"10.1297\/cpe.25.23","type":"journal-article","created":{"date-parts":[[2016,4,27]],"date-time":"2016-04-27T19:37:00Z","timestamp":1461785820000},"page":"23-35","source":"Crossref","is-referenced-by-count":17,"title":["Three novel mutations of the &lt;i&gt;MCT8&lt;\/i&gt; (&lt;i&gt;SLC16A2&lt;\/i&gt;) gene: individual and temporal variations of endocrinological and radiological features"],"prefix":"10.1297","volume":"25","author":[{"given":"Erina","family":"Ono","sequence":"first","affiliation":[{"name":"Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan"},{"name":"Department of Pediatrics, Tokyo Metropolitan Kita Medical and Rehabilitation Center for the Disabled, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masamichi","family":"Ariga","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tokyo Metropolitan Kita Medical and Rehabilitation Center for the Disabled, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sakiko","family":"Oshima","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tokyo Metropolitan Kita Medical and Rehabilitation Center for the Disabled, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mika","family":"Hayakawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tokyo Metropolitan Kita Medical and Rehabilitation Center for the Disabled, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masayuki","family":"Imai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tokyo Metropolitan Kita Medical and Rehabilitation Center for the Disabled, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukikatsu","family":"Ochiai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tokyo Metropolitan Kita Medical and Rehabilitation Center for the Disabled, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Mochizuki","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Metabolism, Saitama Children\u2019s Medical Center, Saitama, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriyuki","family":"Namba","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiichi","family":"Ozono","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ichiro","family":"Miyata","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"125","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1. Bernal, J. Action of thyroid hormone in brain. J Endocrinol Invest 2002;25: 268\u201388.","DOI":"10.1007\/BF03344003"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. K\u00f6nig, S, Moura Neto, V. Thyroid hormone actions on neural cells. Cell Mol Neurobiol 2002;22: 517\u201344.","DOI":"10.1023\/A:1021828218454"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Visser, WE, Friesema, ECH, Jansen, J, Visser, TJ. Thyroid hormone transport by monocarboxylate transporters. Best Pract Res Clin Endocrinol Metab 2007;21: 223\u201336.","DOI":"10.1016\/j.beem.2007.03.008"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Visser, WE, Friesema, ECH, Visser, TJ. Minireview: thyroid hormone transporters: the knowns and the unknowns. Mol Endocrinol 2011;25: 1\u201314.","DOI":"10.1210\/me.2010-0095"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Friesema, ECH, Ganguly, S, Abdalla, A, Manning Fox, JE, Halestrap, AP, Visser, TJ. Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter. J Biol Chem 2003;278: 40128\u201335.","DOI":"10.1074\/jbc.M300909200"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Lafreni\u00e8re, RG, Carrel, L, Willard, HF. A novel transmembrane transporter encoded by the XPCT gene in Xq13.2. Hum Mol Genet 1994;3: 1133\u20139.","DOI":"10.1093\/hmg\/3.7.1133"},{"key":"7","doi-asserted-by":"publisher","unstructured":"7. Heuer, H, Maier, MK, Iden, S, Mittag, J, Friesema, EC, Visser, TJ, et al. The monocarboxylate transporter 8 linked to human psychomotor retardation is highly expressed in thyroid hormone-sensitive neuron populations. Endocrinology 2005;146: 1701\u20136.","DOI":"10.1210\/en.2004-1179"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Price, NT, Jackson, VN, Halestrap, AP. Cloning and sequencing of four new mammalian monocarboxylate transporter (MCT) homologues confirms the existence of a transporter family with an ancient past. Biochem J 1998;329: 321\u20138.","DOI":"10.1042\/bj3290321"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Nishimura, M, Naito, S. Tissue-specific mRNA expression profiles of human solute carrier transporter superfamilies. Drug Metab Pharmacokinet 2008;23: 22\u201344.","DOI":"10.2133\/dmpk.23.22"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Herzovich, V, Vaiani, E, Marino, R, Dratler, G, Lazzati, JM, Tilitzky, S, et al. Unexpected peripheral markers of thyroid function in a patient with a novel mutation of the MCT8 thyroid hormone transporter gene. Horm Res 2007;67: 1\u20136.","DOI":"10.1159\/000095805"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Friesema, EC, Visser, WE, Visser, TJ. Genetics and phenomics of thyroid hormone transport by MCT8. Mol Cell Endocrinol 2010;322: 107\u201313.","DOI":"10.1016\/j.mce.2010.01.016"},{"key":"12","unstructured":"12. Allan, W, Herndon, CN, Dudley, FC. Some examples of the inheritance of mental deficiency: apparently sex-linked idiocy and microcephaly. Am J Ment Defic 1944;48: 325\u201334."},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Schwartz, CE, May, MM, Carpenter, NJ, Rogers, RC, Martin, J, Bialer, MG, et al. Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. Am J Hum Genet 2005;77: 41\u201353.","DOI":"10.1086\/431313"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Dumitrescu, AM, Liao, XH, Best, TB, Brockmann, K, Refetoff, S. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet 2004;74: 168\u201375.","DOI":"10.1086\/380999"},{"key":"15","doi-asserted-by":"publisher","unstructured":"15. Friesema, EC, Grueters, A, Biebermann, H, Krude, H, von Moers, A, Reeser, M, et al. Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. Lancet 2004;364: 1435\u20137.","DOI":"10.1016\/S0140-6736(04)17226-7"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Hampl, R, Kancheva, R, Hill, M, Bic\u00edkov\u00e1, M, Vondra, K. Interpretation of sex hormone-binding globulin levels in thyroid disorders. Thyroid 2003;13: 755\u201360.","DOI":"10.1089\/105072503768499644"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Visser, WE, Vrijmoeth, P, Visser, FE, Arts, WFM, van Toor, H, Visser, TJ. Identification, functional analysis, prevalence and treatment of monocarboxylate transporter 8 (MCT8) mutations in a cohort of adult patients with mental retardation. Clin Endocrinol (Oxf) 2013;78: 310\u20135.","DOI":"10.1111\/cen.12023"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Suzuki, S, Midorikawa, S, Fukushima, T, Shimura, H, Ohira, T, Ohtsuru, A, et al. Thyroid Examination Unit of the Radiation Medical Science Center for the Fukushima Health Management SurveySystematic determination of thyroid volume by ultrasound examination from infancy to adolescence in Japan: the Fukushima Health Management Survey. Endocr J 2015;62: 261\u20138.","DOI":"10.1507\/endocrj.EJ14-0478"},{"key":"19","unstructured":"19. Jin, DH, Hamada, T, Ishida, O. Measurement of growth of pituitary gland with magnetic resonance imaging. Med J Kinki Univ 1996;21: 77\u201383 (in Japanese)."},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Groeneweg, S, Friesema, ECH, Kersseboom, S, Klootwijk, W, Visser, WE, Peeters, RP, et al. The role of Arg445 and Asp498 in the human thyroid hormone transporter MCT8. Endocrinology 2014;155: 618\u201326.","DOI":"10.1210\/en.2013-1521"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Capri, Y, Friesema, ECH, Kersseboom, S, Touraine, R, Monnier, A, Eymard-Pierre, E, et al. Relevance of different cellular models in determining the effects of mutations on SLC16A2\/MCT8 thyroid hormone transporter function and genotype-phenotype correlation. Hum Mutat 2013;34: 1018\u201325.","DOI":"10.1002\/humu.22331"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Fuchs, O, Pfarr, N, Pohlenz, J, Schmidt, H. Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutation. Dev Med Child Neurol 2009;51: 240\u20134.","DOI":"10.1111\/j.1469-8749.2008.03125.x"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. Namba, N, Etani, Y, Kitaoka, T, Nakamoto, Y, Nakacho, M, Bessho, K, et al. Clinical phenotype and endocrinological investigations in a patient with a mutation in the MCT8 thyroid hormone transporter. Eur J Pediatr 2008;167: 785\u201391.","DOI":"10.1007\/s00431-007-0589-6"},{"key":"24","doi-asserted-by":"crossref","unstructured":"24. W\u00e9meau, JL, Pigeyre, M, Proust-Lemoine, E, d\u2019Herbomez, M, Gottrand, F, Jansen, J, et al. Beneficial effects of propylthiouracil plus L-thyroxine treatment in a patient with a mutation in MCT8. J Clin Endocrinol Metab 2008;93: 2084\u20138.","DOI":"10.1210\/jc.2007-2719"},{"key":"25","doi-asserted-by":"crossref","unstructured":"25. Tonduti, D, Vanderver, A, Berardinelli, A, Schmidt, JL, Collins, CD, Novara, F, et al. MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features. J Child Neurol 2013;28: 795\u2013800.","DOI":"10.1177\/0883073812450944"},{"key":"26","doi-asserted-by":"crossref","unstructured":"26. van der Knaap, MS, Wolf, NI. Hypomyelination versus delayed myelination. Ann Neurol 2010;68: 115.","DOI":"10.1002\/ana.21751"}],"container-title":["Clinical Pediatric Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/cpe\/25\/2\/25_2015-0022\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,9,6]],"date-time":"2019-09-06T22:45:35Z","timestamp":1567809935000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/cpe\/25\/2\/25_2015-0022\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016]]},"references-count":26,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2016]]}},"URL":"https:\/\/doi.org\/10.1297\/cpe.25.23","relation":{},"ISSN":["0918-5739","1347-7358"],"issn-type":[{"value":"0918-5739","type":"print"},{"value":"1347-7358","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016]]}}}