文献

J-GLOBAL ID：201002224283069972   整理番号：10A0533181

コハク酸デヒドロゲナーゼD(SDHD)関連パラガングリオーマにおけるSDHD遺伝子の変異対立遺伝子の優勢発現

Predominant Expression of Mutated Allele of the Succunate Dehydrogenase D (SDHD) Gene in the SDHD-related Paragangliomas

著者 (12件)： YAMASHITA Rika (Dep. of Internal Medicine, National Hospital Organization Sendai Medical Center, Sendai, JPN) ,  USUI Takeshi (Clinical Res. Inst. Center for Endocrine and Metabolic Diseases, National Hospital Organization Kyoto Medical Center ...) ,  HASHIMOTO Sho (Dep. of Otolaryngology, National Hospital Organization Sendai Medical Center, Sendai, JPN) ,  SUZUKI Hiroyoshi (Dep. of Pathology, National Hospital Organization Sendai Medical Center, Sendai, JPN) ,  TAKAHASHI Michinori (Dep. of Internal Medicine, National Hospital Organization Sendai Medical Center, Sendai, JPN) ,  HONKURA Kenji (Dep. of Internal Medicine, National Hospital Organization Sendai Medical Center, Sendai, JPN) ,  IWAMOTO Kazutsugu (Dep. of Surgery, National Hospital Organization Sendai Medical Center, Sendai, JPN) ,  KODAMA Eiken (Dep. of Surgery, National Hospital Organization Sendai Medical Center, Sendai, JPN) ,  TAGAMI Tetsuya (Clinical Res. Inst. Center for Endocrine and Metabolic Diseases, National Hospital Organization Kyoto Medical Center ...) ,  NARUSE Mitsuhide (Clinical Res. Inst. Center for Endocrine and Metabolic Diseases, National Hospital Organization Kyoto Medical Center ...) ,  SHIMATSU Akira (Clinical Res. Inst. Center for Endocrine and Metabolic Diseases, National Hospital Organization Kyoto Medical Center ...) ,  KAISE Kazuro (Dep. of Internal Medicine, National Hospital Organization Sendai Medical Center, Sendai, JPN)
資料名： Endocrine Journal  (Endocrine Journal)
巻： 56  号： 9  ページ： 1129-1135 (J-STAGE)  発行年： 2009年 
JST資料番号： F0625A  ISSN： 0918-8959  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： 日本 (JPN)  言語： 英語 (EN)

抄録/ポイント： 最近の研究は,コハク酸デヒドロゲナーゼ(SDH)遺伝子B,C...

シソーラス用語： コハク酸デヒドロゲナーゼ ,...
準シソーラス用語： コハク酸デヒドロゲナーゼD ,...

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分類 (3件)： 遺伝子発現  (EC02040Q) ,  神経系の腫よう  (GN04000V) ,  酵素生理  (EJ02020P)

引用文献 (17件)：

• 1. Amar L, Bertherat J, Baudin E, Ajzenberg C, Bressacde Paillerets B, Chabre O, Chamontin B, Delemer B, Giraud S, Murat A, Niccoli-Sire P, Richard S, Rohmer V, Sadoul JL, Strompf L, Schlumberger M, Bertagna X, Plouin PF, Jeunemaitre X, Gimenez-Roqueplo AP (2005) Genetic testing in pheochromocytoma or functional paraganglioma. J Clin Oncol 23: 8812-8818.
• 2. Astuti D, Latif F, Dallol A, Dahia PL, Douglas F, George E, Skoldberg F, Husebye ES, Eng C, Maher ER (2001) Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet 69: 49-54.
• 3. Neumann HP, Bausch B, McWhinney SR, Bender BU, Gimm O, Franke G, Schipper J, Klisch J, Altehoefer C, Zerres K, Januszewicz A, Eng C, Smith WM, Munk R, Manz T, Glaesker S, Apel TW, Treier M, Reineke M, Walz MK, Hoang-Vu C, Brauckhoff M, Klein-Franke A, Klose P, Schmidt H, Maier-Woelfle M, Peczkowska M, Szmigielski C, Eng C (2002) Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med 346: 1459-1466.
• 4. Bayley JP, Devilee P, Taschner PE (2005) The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency. BMC Med Genet 6: 39.
• 5. Neumann HP, Pawlu C, Peczkowska M, Bausch B, McWhinney SR, Muresan M, Buchta M, Franke G, Klisch J, Bley TA , Hoegerle S, Boedeker CC, Opocher G, Schipper J, Januszewicz A, Eng C (2004) Distinct clinical features of paraganglioma syndromes associated with SDHB and gene mutations. Jama 292: 943-951.

タイトルに関連する用語 (6件)： コハク酸デヒドロゲナーゼ ,  パラガングリオーマ ,  遺伝子 ,  変異 ,  対立遺伝子 ,  発現