Art

J-GLOBAL ID：200902193379247657   Reference number：02A0323368

Novel Mutations in C-terminal Channel Region of the Ryanodine Receptor in Malignant Hyperthermia Patients.

悪性高熱症患者におけるリアノジン受容体C末端チャンネル領域での新たな変異

Author (9)： OYAMADA H (Showa Univ., Tokyo, JPN) ,  OGUCHI K (Univ. Tokyo, Tokyo, JPN) ,  SAITOH N (Univ. Tokyo, Tokyo, JPN) ,  YAMAZAWA T (Univ. Tokyo, Tokyo, JPN) ,  HIROSE K (Univ. Tokyo, Tokyo, JPN) ,  KAWANA Y (Univ. Tokyo, Tokyo, JPN) ,  WAKATSUKI K (Showa Univ., Tokyo, JPN) ,  ENDO M (Saitama Medical School, Saitama, JPN) ,  IINO M (Univ. Tokyo, Tokyo, JPN)
Material： Japanese Journal of Pharmacology  (Jpn J Pharmacol)
Volume： 88  Issue： 2  Page： 159-166  Publication year： Feb. 01, 2002 
JST Material Number： G0813A  ISSN： 0021-5198  CODEN： JJPAA  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： *malignant hyperthermia ,...
Semi thesaurus term： RyR1

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JST classification (2)： Receptors on cell membrane  (EF04030C) ,  Molecular genetics in general  (EC02010J)

Reference (39)：

• 1 Loke J and MacLennan DH: Malignant hyperthermia and central core disease: disorders of Ca²⁺ release channels. Am J Med 104, 470 – 486 (1998)
• 2 Jurkat-Rott K, McCarthy T and Lehmann-Horn F: Genetics and pathogenesis of malignant hyperthermia. Muscle Nerve 23, 4 – 17 (2000)
• 3 McCarthy T, Quane KA and Lynch PJ: Ryanodine receptor mutaions in malignant hyperthermia and central core disease. Hum Mutat 15, 410 – 417 (2000)
• 4 Kalow W, Britt BA, Terreau ME and Haist C: Metabolic error of muscle metabolism after recovery from malignant hyperthermia. Lancet ii, 895 – 898 (1970)
• 5 Endo M: Mechanism of action of caffeine on the sarcoplasmic reticulum of skeletal muscle. Proc Japan Acad 51, 479 – 484 (1975)

Terms in the title (6)： 悪性高熱症 ,  患者 ,  リアノジン受容体 ,  C末端 ,  チャンネル領域 ,  変異