Identification and functional analysis of CBLB mutations in type 1 diabetes
文献类型：期刊论文
| 作者 | Yokoi, Norihide9,10; Fujiwara, Yuuka10; Wang, He-Yao8 ; Kitao, Mai10; Hayashi, Chihiro10; Someya, Tomohiro7; Kanamori, Masao6; Oiso, Yutaka5; Tajima, Naoko4; Yamada, Yulchiro1
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| 刊名 | BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
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| 出版日期 | 2008-03-28 |
| 卷号 | 368期号:1页码:37-42 |
| 关键词 | autoimmunity CBLB genetics mutation susceptibility T-cell type 1 diabetes |
| ISSN号 | 0006-291X |
| DOI | 10.1016/j.bbrc.2008.01.032 |
| 文献子类 | Article |
| 英文摘要 | Casitas B-lineage lymphoma b (Cblb) is a negative regulator of T-cell activation and dysfunction of Cblb in rats and mice results in autoimmunity. In particular, a nonsense mutation in Cblb has been identified in a rat model of autoimmune type I diabetes. To clarify the possible involvement of CBLB mutation in type I diabetes in humans, we performed mutation screening of CBLB and characterized functional properties of the mutations in Japanese subjects. Six missense mutations (A155V, F328L, N466D, K837R, T882A, and R968L) were identified in one diabetic subject each, excepting N466D. Of these mutations, F328L showed impaired suppression of T-cell activation and was a loss-of-function mutation. These data suggest that the F328L mutation is involved in the development of autoimmune diseases including type I diabetes, and also provide insight into the structure-function relationship of CBLB protein. (C) 2008 Elsevier Inc. All rights reserved. |
| WOS关键词 | C-CBL ; PRONE RAT ; NEGATIVE REGULATION ; PCR-RFLP ; SUSCEPTIBILITY ; GENES ; ESTABLISHMENT ; ACTIVATION ; PROTEIN ; CTLA4 |
| WOS研究方向 | Biochemistry & Molecular Biology ; Biophysics |
| 语种 | 英语 |
| WOS记录号 | WOS:000253344900007 |
| 出版者 | ACADEMIC PRESS INC ELSEVIER SCIENCE |
| 源URL | [http://119.78.100.183/handle/2S10ELR8/272954]  |
| 专题 | 药理学第三研究室 |
| 通讯作者 | Seino, Susumu |
| 作者单位 | 1.Div Endocrinol Diabet & Geriatr Med, Dept Internal Med, Akita, Japan; 2.Kinki Univ, Sch Med, Dept Diabet Endocrinol & Metab, Osaka 589, Japan 3.Kansai Denryoku Hosp, Osaka, Japan; 4.Jikei Univ, Dept Internal Med, Div Diabet Metab & Endocrinol, Tokyo, Japan; 5.Nagoya Univ, Grad Sch Med, Dept Endocrinol & Diabet, Nagoya, Aichi, Japan; 6.Biwako Seikei Sport Coll, Dept Lifelong Sport, Div Hlth & Prevent Med, Shiga, Japan; 7.Chiba Univ, Dept Pediat, Grad Sch Med, Chiba, Japan; 8.Chinese Acad Sci, Shanghai Inst Mat Med, Shanghai 200031, Peoples R China; 9.Kobe Univ, Grad Sch Med, Clin Genome Informat Ctr, Kobe, Hyogo 6500017, Japan; 10.Kobe Univ, Grad Sch Med, Dept Physiol & Cell Biol, Div Cellular & Mol Med,Chuo Ku, Kobe, Hyogo 6500017, Japan; |
| 推荐引用方式 GB/T 7714 | Yokoi, Norihide,Fujiwara, Yuuka,Wang, He-Yao,et al. Identification and functional analysis of CBLB mutations in type 1 diabetes[J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS,2008,368(1):37-42. |
| APA | Yokoi, Norihide.,Fujiwara, Yuuka.,Wang, He-Yao.,Kitao, Mai.,Hayashi, Chihiro.,...&Seino, Susumu.(2008).Identification and functional analysis of CBLB mutations in type 1 diabetes.BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS,368(1),37-42. |
| MLA | Yokoi, Norihide,et al."Identification and functional analysis of CBLB mutations in type 1 diabetes".BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 368.1(2008):37-42. |
入库方式： OAI收割
来源：上海药物研究所
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