Art

J-GLOBAL ID：200902238899838554   Reference number：05A0760462

A Nonsense Mutation in the Arg345 of the Insulin Receptor Gene in a Japanese Type A Insulin-resistant Patient

日本人のA型インシュリン抵抗性患者におけるインシュリン受容体遺伝子のArg345のナンセンス突然変異

Author (9)： HASHIRAMOTO Mitsuru (Dep. of Diabetology and Clinical Lab. Medicine, National Univ. Corp. Ehime Univ. School of Medicine) ,  OSAWA Haruhiko (Dep. of Diabetology and Clinical Lab. Medicine, National Univ. Corp. Ehime Univ. School of Medicine) ,  ANDO Mitsuhiro (Dep. of Pediatrics, Gifu Prefectural Tajimi Hospital) ,  MURAKAMI Akiko (Dep. of Diabetology and Clinical Lab. Medicine, National Univ. Corp. Ehime Univ. School of Medicine) ,  NISHIMIYA Tatsuya (Dep. of Diabetology and Clinical Lab. Medicine, National Univ. Corp. Ehime Univ. School of Medicine) ,  NAKANO Masao (Dep. of Pediatrics, Gifu Prefectural Tajimi Hospital) ,  NISHIDA Wataru (Dep. of Diabetology and Clinical Lab. Medicine, National Univ. Corp. Ehime Univ. School of Medicine) ,  ONUMA Hiroshi (Dep. of Diabetology and Clinical Lab. Medicine, National Univ. Corp. Ehime Univ. School of Medicine) ,  MAKINO Hideichi (Dep. of Diabetology and Clinical Lab. Medicine, National Univ. Corp. Ehime Univ. School of Medicine)
Material： Endocrine Journal  (Endocr J)
Volume： 52  Issue： 4  Page： 499-504 (J-STAGE)  Publication year： 2005 
JST Material Number： F0625A  ISSN： 0918-8959  Document type： Article
Article type： 短報  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： Japan ,...
Semi thesaurus term： insulin resistance ,...

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JST classification (2)： Metabolic diseases,nutritional diseases in general.  (GD05010J) ,  Structure and chemistry of genes  (EC02020U)

Reference (29)：

• 1. Massague J, Pilch PE, Czech MP (1980) Electrophoretic resolution of three major insulin receptor structures with unique subunit stoichiometries. Proc Natl Acad Sci USA 77: 7137-7141.
• 2. Kasuga M, Hedo JA, Yamada KM, Kahn, CR (1982) The structure of insulin receptor and its subunits. Evidence for multiple nonreduced forms and a 210,000 possible proreceptor. J Biol Chem 257: 10392-10399.
• 3. Christiansen K, Tranum-Jensen J, Carlsen J, Vinten J (1991) A model for the quaternary structure of human placental insulin receptor deduced from electron microscopy. Proc Natl Acad Sci USA 88: 249-252.
• 4. Ullrich A, Bell JR, Chen EY, Herrera R, Petruzzelli LM, Dull TJ, Gray A, Coussens L, Liao Y-C, Tsubokawa M, Mason A, Seeburg PH, Grunfeld C, Rosen OM, Ramachandran J (1985) Human insulin receptor and its relationship to the tyrosine kinase family of oncogenes. Nature 313: 756-761.
• 5. Ebina Y, Ellis L, Jarnagin K, Edery M, Graf L, Clauser E, Ou J-H, Masiarz F, Kan YW, Goldfine ID, Roth RA, Rutter WJ (1985) The human insulin receptor cDNA: the structural basis for hormone-activated transmembrane signalling. Cell 40: 747-758.

Terms in the title (6)： 日本人 ,  インシュリン抵抗性 ,  患者 ,  インシュリン ,  受容体遺伝子 ,  ナンセンス突然変異