Art

J-GLOBAL ID：201302211398981370   Reference number：13A1568250

Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency

混合性下垂体ホルモン欠乏症患者における線維芽細胞成長因子受容体1遺伝子を含む超顕微鏡的欠失

Author (11)： FUKAMI Maki (Dep. of Molecular Endocrinology, National Res. Inst. for Child Health and Dev., Tokyo 157-8535, JPN) ,  ISO Manami (Dep. of Molecular Endocrinology, National Res. Inst. for Child Health and Dev., Tokyo 157-8535, JPN) ,  SATO Naoko (Dep. of Molecular Endocrinology, National Res. Inst. for Child Health and Dev., Tokyo 157-8535, JPN) ,  IGARASHI Maki (Dep. of Molecular Endocrinology, National Res. Inst. for Child Health and Dev., Tokyo 157-8535, JPN) ,  SEO Misuzu (Dep. of Molecular Bioscience, Fac. of Life Sciences, Kyoto Sangyo Univ., Kyoto 603-8555, JPN) ,  KAZUKAWA Itsuro (Dep. of Endocrinology, Chiba Children’s Hospital, Chiba 266-0007, JPN) ,  KINOSHITA Eiichi (Dep. of Pediatrics, Nagasaki Univ. Graduate School of Biomedical Sciences, Nagasaki 852-8501, JPN) ,  DATEKI Sumito (Dep. of Molecular Endocrinology, National Res. Inst. for Child Health and Dev., Tokyo 157-8535, JPN) ,  DATEKI Sumito (Dep. of Pediatrics, Nagasaki Univ. Graduate School of Biomedical Sciences, Nagasaki 852-8501, JPN) ,  OGATA Tsutomu (Dep. of Molecular Endocrinology, National Res. Inst. for Child Health and Dev., Tokyo 157-8535, JPN) ,  OGATA Tsutomu (Dep. of Pediatrics, Hamamatsu Univ. School of Medicine, Hamamatsu 431-3192, JPN)
Material： Endocrine Journal  (Endocr J)
Volume： 60  Issue： 8  Page： 1013-1020 (J-STAGE)  Publication year： 2013 
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： *hypopituitarism ,...
Semi thesaurus term： FGFR1 ,...

Register(free) or Log In to access     To see more with JDream III (charged).   {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=13A1568250&from=J-GLOBAL&jstjournalNo=F0625A") }}

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

Reference (14)：

• MIRAOUI, H. Role of fibroblast growth factor (FGF) signaling in the neuroendocrine control of human reproduction. Mol Cell Endocrinlo. 2011, 346, 37-43
• MOHAMMADI, M. Structural basis for fibroblast growth factor receptor activation. Cytokine Growth Factor Rev. 2005, 16, 107-137
• VILLANUEVA, C. FGFR1 mutations in Kallmann syndrome. Front Horm Res. 2010, 39, 51-61
• FALARDEAU, J. Decreased FGF8 signaling causes deficiency of gonadoropin-releasing hormone in humans and mice. J Clin Invest. 2008, 118, 2822-2831
• SYKIOTIS, GP. Oligogenic basis of isolated gonadoropin-releasing hormone deficiency. Proc Natl Acad Sci USA. 2010, 107, 15140-15144

Terms in the title (7)： 混合性 ,  下垂体ホルモン欠乏症 ,  患者 ,  線維芽細胞成長因子 ,  受容体 ,  遺伝子 ,  欠失