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本文引用的文献

1
Genetic loss of SH2B3 in acute lymphoblastic leukemia.急性淋巴细胞白血病中 SH2B3 的遗传缺失。
Blood. 2013 Oct 3;122(14):2425-32. doi: 10.1182/blood-2013-05-500850. Epub 2013 Aug 1.
2
Adaptor protein Lnk binds to and inhibits normal and leukemic FLT3.衔接蛋白 Lnk 与正常和白血病 FLT3 结合并抑制其活性。
Blood. 2012 Oct 18;120(16):3310-7. doi: 10.1182/blood-2011-10-388611. Epub 2012 Aug 31.
3
Genetic alterations activating kinase and cytokine receptor signaling in high-risk acute lymphoblastic leukemia.高危急性淋巴细胞白血病中激活激酶和细胞因子受体信号的遗传改变。
Cancer Cell. 2012 Aug 14;22(2):153-66. doi: 10.1016/j.ccr.2012.06.005.
4
Expression level and differential JAK2-V617F-binding of the adaptor protein Lnk regulates JAK2-mediated signals in myeloproliferative neoplasms.衔接蛋白 Lnk 的表达水平和差异 JAK2-V617F 结合调节骨髓增殖性肿瘤中的 JAK2 介导的信号。
Blood. 2010 Dec 23;116(26):5961-71. doi: 10.1182/blood-2009-12-256768. Epub 2010 Sep 24.
5
JAK mutations in high-risk childhood acute lymphoblastic leukemia.高危儿童急性淋巴细胞白血病中的JAK突变
Proc Natl Acad Sci U S A. 2009 Jun 9;106(23):9414-8. doi: 10.1073/pnas.0811761106. Epub 2009 May 22.
6
A subtype of childhood acute lymphoblastic leukaemia with poor treatment outcome: a genome-wide classification study.治疗结果不佳的儿童急性淋巴细胞白血病亚型:一项全基因组分类研究。
Lancet Oncol. 2009 Feb;10(2):125-34. doi: 10.1016/S1470-2045(08)70339-5. Epub 2009 Jan 8.
7
Deletion of IKZF1 and prognosis in acute lymphoblastic leukemia.IKZF1缺失与急性淋巴细胞白血病的预后
N Engl J Med. 2009 Jan 29;360(5):470-80. doi: 10.1056/NEJMoa0808253. Epub 2009 Jan 7.
8
Lnk controls mouse hematopoietic stem cell self-renewal and quiescence through direct interactions with JAK2.Lnk通过与JAK2直接相互作用来控制小鼠造血干细胞的自我更新和静止状态。
J Clin Invest. 2008 Aug;118(8):2832-44. doi: 10.1172/JCI35808.
9
Cytokine signaling and hematopoietic homeostasis are disrupted in Lnk-deficient mice.在缺乏Lnk的小鼠中,细胞因子信号传导和造血稳态受到破坏。
J Exp Med. 2002 Jun 17;195(12):1599-611. doi: 10.1084/jem.20011883.
10
Cloning and characterization of human Lnk, an adaptor protein with pleckstrin homology and Src homology 2 domains that can inhibit T cell activation.人Lnk的克隆与特性分析,Lnk是一种具有普列克底物蛋白同源结构域和Src同源结构域2的衔接蛋白,可抑制T细胞活化。
J Immunol. 2000 May 15;164(10):5199-206. doi: 10.4049/jimmunol.164.10.5199.

SH2B3:一个新的白血病易患基因。

SH2B3: a new leukemia predisposition gene.

机构信息

UNIVERSITY OF NEW MEXICO CANCER CENTER.

出版信息

Blood. 2013 Oct 3;122(14):2293-5. doi: 10.1182/blood-2013-08-519843.

DOI:10.1182/blood-2013-08-519843
PMID:24092923
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3790499/
Abstract

In this issue of , Perez-Garcia et al report the important discovery of an inherited germline mutation in the gene encoding the SH2B adaptor protein 3 () in a consanguineous family affected with autoimmune disorders and acute lymphoblastic leukemia (ALL).

摘要

本期 ,Perez-Garcia 等人报道了一个重要发现,即在一个受自身免疫性疾病和急性淋巴细胞白血病(ALL)影响的近亲家庭中,编码 SH2B 衔接蛋白 3(SH2B3)的基因中存在一个遗传性种系突变。