Art

J-GLOBAL ID：200902208706419030   Reference number：07A0035463

Sporadic Congenital Hyperthyroidism due to a Germline Mutation in the Thyrotropin Receptor Gene (Leu 512 Gln) in a Japanese Patient

日本人患者のチロトロピン受容体遺伝子(Leu512Gln)の生殖細胞系突然変異による散発性の先天性甲状腺機能亢進症

Author (10)： NISHIHARA Eijun (Kuma Hospital) ,  FUKATA Shuji (Kuma Hospital) ,  HISHINUMA Akira (Dep. of Clinical Lab. Medicine, Dokkyo Univ. School of Medicine) ,  KUDO Takumi (Kuma Hospital) ,  OHYE Hidemi (Kuma Hospital) ,  ITO Mitsuru (Kuma Hospital) ,  KUBOTA Sumihisa (Kuma Hospital) ,  AMINO Nobuyuki (Kuma Hospital) ,  KUMA Kanji (Kuma Hospital) ,  MIYAUCHI Akira (Kuma Hospital)
Material： Endocrine Journal  (Endocr J)
Volume： 53  Issue： 6  Page： 735-740 (J-STAGE)  Publication year： 2006 
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： Mild mental retardation ,...

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JST classification (1)： Basic medicine on endocrine system  (GL01020Q)

Reference (27)：

• 1. Zakarija M, McKenzie JM (1983) Pregnancy-associated changes in the thyroid-stimulating antibody of Graves' disease and the relationship to neonatal hyperthyroidism. J Clin Endocrinol Metab 57: 1036-1040.
• 2. Duprez L, Parma J, Van Sande J, Allgeier A, Leclere J, Schvartz C, Delisle MJ, Decoulx M, Orgiazzi J, Dumont J, Vassart G (1994) Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism. Nat Genet 7: 396-401.
• 3. Kopp P, van Sande J, Parma J, Duprez L, Gerber H, Joss E, Jameson JL, Dumont JE, Vassart G (1995) Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene. N Engl J Med 332: 150-154.
• 4. de Roux N, Polak M, Couet J, Leger J, Czernichow P, Milgrom E, Misrahi M (1996) A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism. J Clin Endocrinol Metab 81: 2023-2026.
• 5. Fuhrer D, Mix M, Willgerodt H, Holzapfel HP, Von Petrykowski W, Wonerow P, Paschke R (1998) Autosomal dominant nonautoimmune hyperthyroidism. Clinical features-diagnosis-therapy. Exp Clin Endocrinol Diabetes 106: S10-15.

Terms in the title (6)： 日本人 ,  患者 ,  チロトロピン ,  受容体遺伝子 ,  生殖細胞系突然変異 ,  甲状腺機能亢進症