Art

J-GLOBAL ID：200902271870802523   Reference number：06A0037084

Mutations of syntaxin 11 and SNAP23 genes as causes of familial hemophagocytic lymphohistiocytosis were not found in Japanese people

家族性血球どん食性リンパ組織球増多症の原因としてのsyntaxin 11とSNAP23遺伝子の突然変異は日本人集団には見出されない

Author (13)： YAMAMOTO Ken (Kyushu Univ., Fukuoka, JPN) ,  ISHII Eiichi (Saga Univ., Saga, JPN) ,  HORIUCHI Hisanori (Kyoto Univ., Kyoto, JPN) ,  UEDA Ikuyo (Kyoto Prefectural Univ. Medicine, Kyoto, JPN) ,  OHGA Shouichi (Kyushu Univ., Fukuoka, JPN) ,  NISHI Masanori (Saga Univ., Saga, JPN) ,  OGATA Yoshiyasu (Saga Univ., Saga, JPN) ,  ZAITSU Masafumi (Saga Univ., Saga, JPN) ,  MORIMOTO Akira (Kyoto Prefectural Univ. Medicine, Kyoto, JPN) ,  HARA Toshiro (Kyushu Univ., Fukuoka, JPN) ,  IMASHUKU Shinsaku (Takasago Seibu Hospital, Takasago, JPN) ,  SASAZUKI Takehiko (International Medical Center of Japan, Tokyo, JPN) ,  YASUKAWA Masaki (Ehime Univ., Ehime, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 50  Issue： 11  Page： 600-603  Publication year： 2005 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 短報  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,...
Semi thesaurus term： 家族性血球どん食性リンパ組織球増多症 ,...

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JST classification (1)： Genetic variation  (EC01030Y)

Reference (18)：

• CHEN, YA. SNARE-mediated membrane fusion. Nat Rev Mol Cell Biol. 2001, 2, 98-106
• FELDMANN, J. Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). Cell. 2003, 115, 461-473
• HENTER, J. Diagnostic guidelines for hemophagocytic lymphohistiocytosis. Sem Oncol. 1991, 18, 29-33
• ISHII, E. Clinical and epidemiologic studies of familial hemophagocytic lymphohistiocytosis in Japan. Med Pediatr Oncol. 1998, 30, 276-283
• ISHII, E. Genetic subtypes of familial hemophagocytic lymphohistiocytosis : correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions. Blood. 2005, 105, 3442-3448

Terms in the title (7)： 家族 ,  血球どん食性リンパ組織球増多症 ,  原因 ,  遺伝子 ,  突然変異 ,  日本人 ,  集団