Art

J-GLOBAL ID：200902288314861294   Reference number：08A0188247

A Novel Thyrotropin Receptor Germline Mutation (Asp617Tyr) Causing Hereditary Hyperthyroidism

遺伝性甲状腺機能亢進症を引き起こす新しいチロトロピン受容体の生殖細胞系突然変異(Asp617Tyr)

Author (10)： NISHIHARA Eijun (Kuma Hospital) ,  NAGAYAMA Yuji (Dep. of Medical Gene Technol., Atomic Bomb Disease Inst., Nagasaki Univ. Graduate School of Biomedical Sciences) ,  AMINO Nobuyuki (Kuma Hospital) ,  HISHINUMA Akira (Dep. of Clinical Lab. Medicine, Dokkyo Univ. School of Medicine) ,  TAKANO Toru (Dep. of Lab. Medicine, Osaka Univ. Graduate School of Medicine) ,  YOSHIDA Hiroshi (Kuma Hospital) ,  KUBOTA Sumihisa (Kuma Hospital) ,  FUKATA Shuji (Kuma Hospital) ,  KUMA Kanji (Kuma Hospital) ,  MIYAUCHI Akira (Kuma Hospital)
Material： Endocrine Journal  (Endocr J)
Volume： 54  Issue： 6  Page： 927-934 (J-STAGE)  Publication year： 2007 
JST Material Number： F0625A  ISSN： 0918-8959  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： *TSH ,...
Semi thesaurus term： adenylyl cyclase ,...

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JST classification (3)： Molecular genetics in general  (EC02010J) ,  Endocrine diseases  (GL03000I) ,  Thyroid hormones  (EB08030S)

Substance index (1)： cAMP

Reference (36)：

• DUPREZ, L. Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism. Nat Genet. 1994, 7, 396-401
• KOPP, P. Brief report : congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene. N Engl J Med. 1995, 332, 150-154
• SCHWAB, KO. Mutations of the TSH receptor as cause of congenital hyperthyroidism. Exp Clin Endocrinol Diabetes. 1996, 104, 124-128
• TONACCHERA, M. Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia. J Clin Endocrinol Metab. 1996, 81, 547-554
• FUHRER, D. Somatic mutations in the thyrotropin receptor gene and not in the Gs alpha protein gene in 31 toxic thyroid nodules. J Clin Endocrinol Metab. 1997, 82, 3885-3891

Terms in the title (5)： 遺伝 ,  甲状腺機能亢進症 ,  チロトロピン ,  受容体 ,  生殖細胞系突然変異