Art

J-GLOBAL ID：201902238544724851   Reference number：19A2219316

The Mutant Thyroid Hormone Receptor Beta R320P Causes Syndrome of Resistance to Thyroid Hormone

甲状腺ホルモン受容体βR320Pは甲状腺ホルモンに対する抵抗性症候群を引き起こす【JST・京大機械翻訳】

Author (4)： Kimura Tetsuya (Okamoto Thyroid Clinic, Asahi-ku, Osaka 535-0031, Japan) ,  Hayashi Yoshitaka (Research Institute of Environmental Medicine, Nagoya University, Aichi 464-8601, Japan) ,  Tsukamoto Yuka (Okamoto Thyroid Clinic, Asahi-ku, Osaka 535-0031, Japan) ,  Okamoto Yasuyuki (Okamoto Thyroid Clinic, Asahi-ku, Osaka 535-0031, Japan)
Material： Case Reports in Endocrinology (Web)
Volume： 2018  Page： Null  Publication year： 2018 
JST Material Number： U7839A  ISSN： 2090-6501  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Abstract/Point： A 31-year-old Japanese male pa...

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Thesaurus term： man ,  serum concentration ,  DNA ,  *thyroid hormone ,  case report ,  auricular fibrillation ,  heterojunction ,  Mutation ,  human ,  TSH ,  gene ,  free thyroxine 4 ,  Japanese ,  Genetic Variation ,  amino acid ,  aliphatic amine ,  aliphatic carboxylic acid ,  primary amine ,  nitrogen heterocyclic compound ,  phenolic compound ,  aromatic iodine compound ,  phenol ether
Semi thesaurus term： variation(biology) , 【Automatic Indexing@JST】

JST classification (2)： Endocrine diseases  (GL03000I) ,  Crinical medicine on endocrine system in general  (GL01030B)

Substance index (3)： Arginine ,  Proline ,  Triiodothyronine

Reference (15)：

• S. Refetoff, L. T. DeWind, L. J. DeGroot, "Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone," The Journal of Clinical Endocrinology & Metabolism, vol. 27, no. 2, pp. 279-294, 1967.
• B. K. Singh, P. M. Yen, "A clinician's guide to understanding resistance to thyroid hormone due to receptor mutations in the TRalpha and TRbeta isoforms," Clinical Diabetes and Endocrinology, vol. 3, no. 8, 2017.
• S. H. LaFranchi, D. B. Snyder, D. E. Sesser, M. R. Skeels, N. Singh, G. A. Brent, J. C. Nelson, "Follow-up of newborns with elevated screening T4 concentrations," Journal of Pediatrics, vol. 143, no. 3, pp. 296-301, 2003.
• S. Refetoff, J. H. Bassett, P. Beck-Peccoz et al., "Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism," The Journal of Clinical Endocrinology & Metabolism, vol. 99, pp. 768-770, 2014.
• M. Adams, C. Matthews, T. N. Collingwood, Y. Tone, P. Beck-Peccoz, K. K. Chatterjee, "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," The Journal of Clinical Investigation, vol. 94, no. 2, pp. 506-515, 1994.

Terms in the title (4)： 甲状腺ホルモン受容体β ,  甲状腺ホルモン ,  抵抗性 ,  症候群