Infrequent occurrence of mutations in the PH domain of LNK in patients with JAK2 mutation-negative 'idiopathic' erythrocytosis.
作者信息
Spolverini Ambra, Pieri Lisa, Guglielmelli Paola, Pancrazzi Alessandro, Fanelli Tiziana, Paoli Chiara, Bosi Alberto, Nichele Ilaria, Ruggeri Marco, Vannucchi Alessandro M
出版信息
Haematologica. 2013 Sep;98(9):e101-2. doi: 10.3324/haematol.2013.090175. Epub 2013 Jun 28.
Abstract
摘要
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本文引用的文献
1
A nonsynonymous LNK polymorphism associated with idiopathic erythrocytosis.与特发性红细胞增多症相关的非 synonymous LNK 多态性。
Am J Hematol. 2011 Nov;86(11):962-4. doi: 10.1002/ajh.22154. Epub 2011 Aug 22.
2
Possible new LNK mutations in myeloproliferative neoplasms.骨髓增殖性肿瘤中可能存在的新的LNK突变。
Am J Hematol. 2011 Oct;86(10):866-8. doi: 10.1002/ajh.22107. Epub 2011 Aug 22.
3
LNK can also be mutated outside PH and SH2 domains in myeloproliferative neoplasms with and without V617FJAK2 mutation.在伴有或不伴有V617F JAK2突变的骨髓增殖性肿瘤中，LNK也可在PH和SH2结构域之外发生突变。
Leuk Res. 2011 Nov;35(11):1537-9. doi: 10.1016/j.leukres.2011.07.009. Epub 2011 Jul 26.
4
LNK mutations in JAK2 mutation-negative erythrocytosis.JAK2 突变阴性红细胞增多症中的 LNK 突变
N Engl J Med. 2010 Sep 16;363(12):1189-90. doi: 10.1056/NEJMc1006966.
5
LNK mutation studies in blast-phase myeloproliferative neoplasms, and in chronic-phase disease with TET2, IDH, JAK2 or MPL mutations.在急变期骨髓增殖性肿瘤和伴有 TET2、IDH、JAK2 或 MPL 突变的慢性期疾病中进行 LNK 突变研究。
Leukemia. 2010 Oct;24(10):1713-8. doi: 10.1038/leu.2010.163. Epub 2010 Aug 19.
6
Lnk constrains myeloproliferative diseases in mice.Lnk 限制小鼠的骨髓增殖性疾病。
J Clin Invest. 2010 Jun;120(6):2058-69. doi: 10.1172/JCI42032. Epub 2010 May 10.
7
Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms.新型抑制衔接蛋白 LNK 突变驱动骨髓增殖性肿瘤患者的 JAK-STAT 信号通路。
Blood. 2010 Aug 12;116(6):988-92. doi: 10.1182/blood-2010-02-270108. Epub 2010 Apr 19.
8
Idiopathic erythrocytosis: a disappearing entity.特发性红细胞增多症：一种正在消失的实体。
Hematology Am Soc Hematol Educ Program. 2009:629-35. doi: 10.1182/asheducation-2009.1.629.
9
Proposals and rationale for revision of the World Health Organization diagnostic criteria for polycythemia vera, essential thrombocythemia, and primary myelofibrosis: recommendations from an ad hoc international expert panel.世界卫生组织真性红细胞增多症、原发性血小板增多症和原发性骨髓纤维化诊断标准修订提案及理由：一个特设国际专家小组的建议
Blood. 2007 Aug 15;110(4):1092-7. doi: 10.1182/blood-2007-04-083501. Epub 2007 May 8.
10
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.
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