Analysis for erythroid defect in Diamond Blackfan anemia using patient-derived iPS cells
| Project/Area Number |
25860798
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Hematology
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| Research Institution | National Institute of Infectious Diseases |
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Principal Investigator |
KURAMITSU Madoka 国立感染症研究所, その他部局等, 研究員 (00566383)
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| Project Period (FY) |
2013-04-01 – 2015-03-31
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| Project Status |
Completed (Fiscal Year 2014)
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| Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2014: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2013: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
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| Keywords | リボソームタンパク質 / 貧血 / 遺伝子変異 / タンパク質分解 / 代謝 / 赤血球 / タンパク質代謝 |
|---|
| Outline of Final Research Achievements |
Diamond Blackfan anemia is rare congenital anemia that belongs to the inherited BM failure syndromes, generally presenting the first years of life. The onset mechanisms of the disease are widely unknown, even though progresses have been made by the analyses using various analytical methods such as gene manipulating technologies. Recently, the technology to prepare iPS cells from blood of patients has been established. These cells have the same genetic background with the patients. In this study, 4 strains of DBA-derived iPS cells were established from Japanese patients. Also, I found that the down-regulation of erythroid specific cell surface maker is closely related to the activation of intracellular metabolism including autophagy.
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Report
(3 results)
Research Products
(9 results)
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[Journal Article] Loss of function mutations in RPL27 identified by whole-exome sequencing in Diamond-Blackfan anaemia2015
Author(s)
Wang R, Yoshida K, Toki T, Sawada T, Uechi T, Okuno Y, Sato-Otsubo A, Kudo K, Kamimaki I, Kanezaki R, Shiraishi Y, Chiba K, Tanaka H, Terui K, Sato T, Iribe Y, Ohga S, Kuramitsu M, Hamaguchi I, Ohara A, Hara J, et al.
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Journal Title
Br J haematol
Volume: 168
Pages: 854-864
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Journal Article] Identification of TL-Oml, an ATL Cell Line, as a Reference Material for Human T-Lymphotropic Virus 1 Quantitative PCR2015
Author(s)
Kuramitsu M, Okuma K, Yamagishi M, Yamochi T, Firouzi S, Momose H, Mizukami T, Takizawa K, Araki K, Sugamura K, Yamaguchi K, Watanabe T, Hamaguchi I.
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Journal Title
Journal of clinical microbiology
Volume: 53
Issue: 2
Pages: 587-596
DOI
Related Report
Peer Reviewed / Acknowledgement Compliant
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[Journal Article] Degenerate polymerase chain reaction strategy with DNA microarray for detection of multiple and various subtypes of virus during blood screening.2013
Author(s)
Takizawa K, Nakashima T, Mizukami T, Kuramitsu M, Endoh D, Kawauchi S, Sasaki K, Momose H, Kiba Y, Mizutani T, Furuta RA, Yamaguchi K, Hamaguchi I
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Journal Title
Transfusion
Volume: 17
Pages: 17-17
DOI
Related Report
Peer Reviewed
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