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首页> 外文期刊>Cell cycle >Gain-of-function c-CBL mutations associated with uniparental disomy of 11q in myeloid neoplasms.
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Gain-of-function c-CBL mutations associated with uniparental disomy of 11q in myeloid neoplasms.

机译:与骨髓肿瘤中11q的单亲二体性相关的功能性c-CBL突变。

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摘要

c-CBL (CBL) encodes a multifunctional protein engaged in the regulation of intracellular signaling pathways.(1,2) It was first identified as a cellular counterpart of the viral oncogene, v-CBL, that causes murine lymphoma.(3,4) Although no genetic evidence existed suggesting its role in human carcinogenesis, the recent discovery of c-CBL mutations in myeloid cancers has unveiled a unique oncogenic mechanism mediated by gain-of-function of a mutated tumor suppressor, closely associated with allelic conversion of 11q arms.(5-9) In this review, we summarize our current knowledge about c-CBL mutations and discuss the molecular mechanisms of their gain-of-function.
机译:c-CBL(CBL)编码参与调节细胞内信号通路的多功能蛋白。(1,2)它首先被鉴定为病毒致癌基因v-CBL的细胞对应物,可引起鼠淋巴瘤。(3,4 )尽管没有遗传证据表明其在人类致癌作用中的作用,但最近在髓样癌中发现c-CBL突变揭示了由突变的肿瘤抑制子的功能介导的独特致癌机制,与11q等位基因转化密切相关(5-9)在这篇综述中,我们总结了我们目前对c-CBL突变的认识,并讨论了其功能获得的分子机制。

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