Clinical and biological significance of granulocyte colony stimulating factor receptor gene abnormalities those found in severe congenital neutropenia
| Project/Area Number |
20591243
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Yamagata University |
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Principal Investigator |
MITSUI Tetsuo (MTSUI Tetsuo) 山形大学, 医学部, 講師 (30270846)
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| Co-Investigator(Kenkyū-buntansha) |
KAWAKAMI Takako 山形大学, 医学部, 助教 (90312743)
HAYASAKA Kiyoshi 山形大学, 医学部, 教授 (20142961)
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| Project Period (FY) |
2008 – 2011
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| Project Status |
Completed (Fiscal Year 2011)
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| Budget Amount *help |
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2011: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2010: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2009: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2008: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
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| Keywords | CSF3R / 先天性好中球減少症 / 白血病化 / ゲノム不安定性 / G-CSF受容体 / 切断型遺伝子異常 / CSF3受容体 / Shwachman-Diamond症候群 / 受容体切断型遺伝子異常 / 生天性好中球減少症 |
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| Research Abstract |
We conducted sequential G-CSF receptor (CSF3) gene analysis of patients with severe congenital neutropenia, and found a heterogeneous mutation (c. 1947C>T : Ala569Val) in the receptor gene that coded right above cell membrane. This mutation is confirmed as the acquired gene mutation. The patient did not show any change in her clinical course and this mutation disappeared from her marrow six months later. Genome instability like this is interesting in relation to leukemic change of severe congenital neutropenia.
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Report
(6 results)
Research Products
(43 results)
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[Journal Article] 当院においてRosen T20プロトコールで治療した若年骨肉腫12例2011
Author(s)
川上貴子, 簡野美弥子, 高橋憲幸, 目黒亨, 仙道大, 三井哲夫, 樋口智佳子, 土屋登嗣, 勝浦理彦, 清水行敏, 小山内俊久, 早坂清
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Journal Title
小児がん
Volume: 48
Pages: 276-283
Related Report
Peer Reviewed
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[Journal Article] Severe hemorrhagic colitis caused by dasatinib in Philadelphia chromosome-positive acute lymphoblastic leukemia2009
Author(s)
Shimokaze T, Mitsui T, Takeda H, Kawakami T, Arai T, Ito M, Iwaba A, Izumino H, Takahashi N, Kanno M, Sendo D, Hayasaka K.
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Journal Title
Pediatr Hematol Oncol
Volume: 26
Pages: 448-53
Related Report
Peer Reviewed
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[Journal Article] 血液・腫瘍性疾患患児における抗真菌薬ミカファンギンの有効性に関する検討2008
Author(s)
小沼正栄, 久間木悟, 吉成みやこ, 佐藤篤, 照井君典, 神尾卓哉, 平山雅士, 簡野美弥子, 川上貴子, 望月一弘, 伊藤正樹, 渡辺新, 遠藤幹也, 三井哲夫, 今泉益栄, 菊田敦, 伊藤悦朗, 土屋滋
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Journal Title
日小血会誌
Volume: 22
Pages: 226-232
NAID
Related Report
Peer Reviewed
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[Presentation] INSS分類Stage1で腫瘍全摘後無治療経過観察中、Stage4で再発した神経芽腫4歳女児2008
Author(s)
三井哲夫, 川上貴子, 高橋憲幸, 金井雅代, 本間信夫, 仙道大, 簡野美弥子, 早坂清, 山際岩男, 江村隆起, 太田寛
Organizer
第24回日本小児がん学会
Place of Presentation
千葉市幕張メッセ国際会議場
Year and Date
2008-11-16
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