Mutational analysis of RNA splicing machinery components in 206 children with myeloid malignancies.
作者信息
Sakaguchi Hirotoshi, Makishima Hideki, Muramatsu Hideki, Visconte Valeria, Jerez Andres, Jankowska Anna M, Tiu Ramon V, Maciejewski Jaroslaw P, Kojima Seiji
出版信息
Leuk Res. 2012 Dec;36(12):e215-7. doi: 10.1016/j.leukres.2012.06.002. Epub 2012 Jun 28.
Abstract
摘要
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本文引用的文献
1
Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis.剪接体机制中的突变，白血病发生中的一个新的普遍途径。
Blood. 2012 Apr 5;119(14):3203-10. doi: 10.1182/blood-2011-12-399774. Epub 2012 Feb 9.
2
Spliceosomal gene aberrations are rare, coexist with oncogenic mutations, and are unlikely to exert a driver effect in childhood MDS and JMML.剪接体基因异常罕见，与致癌基因突变共存，不太可能在儿童 MDS 和 JMML 中发挥驱动作用。
Blood. 2012 Mar 15;119(11):e96-9. doi: 10.1182/blood-2011-12-395087. Epub 2012 Jan 11.
3
Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts.环形铁幼粒细胞性难治性贫血伴多系发育异常中的体细胞 SF3B1 突变。
N Engl J Med. 2011 Oct 13;365(15):1384-95. doi: 10.1056/NEJMoa1103283. Epub 2011 Sep 26.
4
Frequent pathway mutations of splicing machinery in myelodysplasia.骨髓增生异常综合征中剪接机制的频繁通路突变。
Nature. 2011 Sep 11;478(7367):64-9. doi: 10.1038/nature10496.
5
SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts.SF3B1是一种剪接因子，在伴有环形铁粒幼细胞的难治性贫血中经常发生突变。
Leukemia. 2012 Mar;26(3):542-5. doi: 10.1038/leu.2011.232. Epub 2011 Sep 2.
6
Mutational spectrum analysis of chronic myelomonocytic leukemia includes genes associated with epigenetic regulation: UTX, EZH2, and DNMT3A.慢性粒单核细胞白血病的突变谱分析包括与表观遗传调控相关的基因：UTX、EZH2 和 DNMT3A。
Blood. 2011 Oct 6;118(14):3932-41. doi: 10.1182/blood-2010-10-311019. Epub 2011 Aug 9.
7
Recent advances in the pathogenesis and treatment of juvenile myelomonocytic leukaemia.近期在少年骨髓单核细胞白血病的发病机制和治疗方面的进展。
Br J Haematol. 2011 Mar;152(6):677-87. doi: 10.1111/j.1365-2141.2010.08525.x.
8
Genetic typing of CBL, ASXL1, RUNX1, TET2 and JAK2 in juvenile myelomonocytic leukaemia reveals a genetic profile distinct from chronic myelomonocytic leukaemia.对幼年髓单核细胞白血病中的 CBL、ASXL1、RUNX1、TET2 和 JAK2 进行基因分型，揭示了与慢性髓单核细胞白血病不同的基因谱。
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Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia.E3 泛素连接酶 c-Cbl 的突变而非 TET2 突变是青少年骨髓单核细胞白血病的致病因素。
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Quantitative assessment of PTPN11 or RAS mutations at the neonatal period and during the clinical course in patients with juvenile myelomonocytic leukaemia.在婴儿期和青少年骨髓单核细胞白血病的临床病程中定量评估 PTPN11 或 RAS 突变。
Br J Haematol. 2010 Feb;148(4):593-9. doi: 10.1111/j.1365-2141.2009.07968.x. Epub 2009 Oct 29.
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