1999 Fiscal Year Final Research Report Summary
MOLECULAR ANALYSIS OF CANCER FAMILY SYNDROME
Project/Area Number |
10670719
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Single-year Grants |
Section | 一般 |
Research Field |
Pediatrics
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Research Institution | GIFU UNIVERSITY |
Principal Investigator |
KANEKO Hideo GIFU UNIVERSITY, SCHOOL OF MEDICINE, DEPARTMENT OF PEDIATRICS, ASSISTANT PROFESSOR, 医学部, 助手 (80293554)
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Co-Investigator(Kenkyū-buntansha) |
FUKAO Toshiyuki GIFU UNIVERSITY, SCHOOL OF MEDICINE, DEPARTMENT OF PEDIATRICS, ASSISTANT PROFESSOR, 医学部・附属病院, 助手 (70260578)
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Project Period (FY) |
1998 – 1999
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Keywords | BLOOM SYNDROME / BLM / ATAXIA-TELANGIECTASIA / ATM / FAMILIAL TUMOR / IMMUNODEFICIENCY |
Research Abstract |
(1) We showed that BLM protein was expressed strongly in thymus and testis and that BLM protein was not directly involved in Ig VDJ recombination. (2) We showed that the ArgィイD11344ィエD1-SerィイD11345ィエD1-LysィイD11346ィエD1-ArgィイD11347ィエD1 sequence at the C-terminus of the human BLM protein was essential for nuclear localization of this protein. (3) We demonstrated that immunoblot analysis using EBV-transformed or PHA-stimulated lymphoblastas represented a useful approach for laboratory diagnosis for A-T. (4) We demonstrated that ATM is upregulated during the mitogenic response in peripheral blood mononuclear cells. (5) We showed that IVS33 + 2T -> A and 7883del5 were identified in four and five alleles, respectively, in a total of 18 mutant alleles of Japanese A-T patients. These results suggested that these two mutations were relatively common mutations in the Japanese population.
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Research Products
(32 results)
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[Publications] Kondo, N., Kobayashi, Y., Shinoda, S., Takenaka, R., Teramoto, T., Kaneko, H., Fukao, T., Matsui, E., Kasahara, K. and Yokoyama, Y.: "Reduced interferon gamma production by antigen-stimulated cord blood mononuclear cells is a risk factor of allergic disorders -- 6-year follow-up study."Clin. Exp. Allergy. 28. 1340-1344 (1998)
Description
「研究成果報告書概要(欧文)」より
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[Publications] Fukao, T., Song, X.Q., Yoshida, T., Tashita, H., Kaneko, H., Teramoto, T., Inoue, R., Katamura, K., Mayumi M., Hiratani, M., Taniguchi, N., Arai, J., Wakiguchi, H., Bar-Shira, A., Shiloh, Y. and Kondo, N.: "Ataxia-telaangiectasia in the Japanese population: identification of R1917X, W2491R, R2909G, IVS33+2--->A, and 7883 del5, the latter two being rrelatively common mutations."Human Mutation. 12. 338-343 (1998)
Description
「研究成果報告書概要(欧文)」より
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[Publications] Yamada, Y., Inoue R., Fukao, T., Kaneko, H., Isogai, K., Fukuda, S., Shimozawa, N., Suzuki, Y., Kondo, N., Azuma, E. and Sakurai, M.: "Ataxia telangiectasia associated with B-cell lymphoma: the effect of a half-dose of the drugs administered according to the acute lymphoblastic leukemia standard risk protocol."Pediatr. Hematol. Oncol.. 15. 425-429 (1998)
Description
「研究成果報告書概要(欧文)」より
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[Publications] Kondo, N., Fukao, T., Kaneko, H., Teramoto, T., Tashita, H. and Inoue, R.: "DNase I hypersensitivity sites in human I epsilon region of immunoglobulin heavy chain genes abnormally induced by interleukin-4 in B-lymphocytes of atopic patients with high levels of serum IgE."J. Investig. Allergol. Clin. Immunol.. 8. 234-238 (1998)
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「研究成果報告書概要(欧文)」より
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[Publications] Fukao, T., Kaneko, H., Birrell, G., Gatei, M., Tashita, H., Kasahara K., Cross, S., Kedar, P., Watters, D., Khanna, K.K., Misko, I., Kondo, N. and Lavin, M.F.: "ATM is upregulated during the mitogenic response in peripheral blood mononuclear cells."Blood. 94. 1998-2006 (1999)
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「研究成果報告書概要(欧文)」より
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[Publications] Nakazawa T., Agematsu K., Yasui K., Onodera T., Inoue R., Kaneko H., Kondo N., Yamamoto M., Kayagaki N., Yagita H., Okumura K. and Komiyama A.: "Cytolytic mechanisms involved in non-MHC-restricted cytotoxicity in Chediak-Higashi syndrome."Clin. Exp. Immunol.. 118. 108-114 (1999)
Description
「研究成果報告書概要(欧文)」より
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[Publications] Fukao T., Yoshida T., Kaneko H., X-Q., Song., Tashita, H., Teramoto T., Inoue R., Watters D., Lavin M. and Kondo N.: "Immunoblot analysis for laboratory diagnosis of ataxia-telangiectasia: Use of Epstein-Barr virus-transformed of phytohemagglutinin-stimulated lymphobasts for detection of ATM protein."Invest. Allergol. Clin. Immunol.. (in press).
Description
「研究成果報告書概要(欧文)」より
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