Responsible genes and molecular pathogenesis of inherited thrombocytopenia with small or normal-sized platelets
| Project/Area Number |
26461562
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Tohoku University |
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Principal Investigator |
SASAHARA Yoji 東北大学, 医学系研究科, 准教授 (60372314)
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| Project Period (FY) |
2014-04-01 – 2018-03-31
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| Project Status |
Completed (Fiscal Year 2017)
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| Budget Amount *help |
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2016: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2015: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| Keywords | 遺伝子 / シグナル伝達 / 血液学 / トランスレーショナルリサーチ |
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| Outline of Final Research Achievements |
Thrombocytopenia in childhood includes inherited thrombocytopenia caused by gene mutations, in addition to non-inherited immune thrombocytopenia. Based on my basic research for Wiskott-Aldrich syndrome, I established rapid mutation analysis system for known responsible genes for inherited thrombocytopenia with small or normal-sized platelets. I also identified novel responsible gene, MECOM gene, for newly identified disease entity in three patients by exome analysis, and reported as an article worldwide. In addition, I reported the results of gene analysis to the doctors and contributed to clinical rapid diagnosis and concise management for patients with inherited thrombocytopenia with small or normal-sized platelets.
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Report
(5 results)
Research Products
(27 results)
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[Journal Article] Analyses of genetic and clinical parameters for screening patients with inherited thrombocytopenia with small or normal-sized platelets.2015
Author(s)
Ouchi-Uchiyama M, Sasahara Y, Kikuchi A, Goi K, Nakane T, Ikeno M, Noguchi Y, Uike N, Miyajima Y, Matsubara K, Koh K, Sugita K, Imaizumi M, Kure S.
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Journal Title
Pediatr. Blood & Cancer
Volume: 62(12)
Issue: 12
Pages: 2082-2088
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Journal Article] Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia.2015
Author(s)
Niihori T, Ouchi-Uchiyama M, Sasahara Y, Kaneko T, Hashii Y, Irie M, Sato A, Saito-Nanjo Y, Funayama R, Nagashima T, Inoue S, Nakayama K, Ozono K, Kure S, Matsubara Y, Imaizumi M, Aoki Y.
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Journal Title
Am J Hum Genet.
Volume: 97
Issue: 6
Pages: 848-854
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] The open conformation of WASP regulates its nuclear localization and gene transcription in myeloid cells.2014
Author(s)
2.Looi CY, Sasahara Y, Watanabe Y, Sato M, Hakozaki I, Uchiyama M, Wong WF, Uchiyama T, Kumaki S, Tsuchiya S, Kure S
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Journal Title
International Immnology
Volume: 26
Issue: 6
Pages: 341-352
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Journal Article] GNE myopathy associated with congenital thrombocytopenia: a report of two siblings.2014
Author(s)
Izumi R, Niihori T, Suzuki N, Sasahara Y, Nishiyama A, Nishiyama S, Endo K, Kato M, Warita H, Konno H, Tateyama M, Nagashima T, Funayama R, Nakayama K, Kure S, Matsubara Y, Aoki Y, Aoki M.
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Journal Title
Neuromuscul. Disord.
Volume: 24(12)
Issue: 12
Pages: 1068-1072
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Presentation] ＩＴＰと鑑別が必要な血小板疾患2014
Author(s)
笹原洋二
Organizer
第56回日本小児血液がん学会学術集会
Place of Presentation
岡山コンベンションセンター（岡山）
Year and Date
2014-11-28 – 2014-11-30
Related Report
Invited
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