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本文引用的文献

1
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.
2
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.
3
A comprehensive catalogue of somatic mutations from a human cancer genome.一个人类癌症基因组中体细胞突变的综合目录。
Nature. 2010 Jan 14;463(7278):191-6. doi: 10.1038/nature08658. Epub 2009 Dec 16.
4
Glycogen synthase kinase 3beta missplicing contributes to leukemia stem cell generation.糖原合酶激酶3β剪接异常促成白血病干细胞的产生。
Proc Natl Acad Sci U S A. 2009 Mar 10;106(10):3925-9. doi: 10.1073/pnas.0900189106. Epub 2009 Feb 23.
5
Local dystrophin restoration with antisense oligonucleotide PRO051.使用反义寡核苷酸PRO051进行局部肌营养不良蛋白恢复
N Engl J Med. 2007 Dec 27;357(26):2677-86. doi: 10.1056/NEJMoa073108.
6
The genomic landscapes of human breast and colorectal cancers.人类乳腺癌和结直肠癌的基因组图谱。
Science. 2007 Nov 16;318(5853):1108-13. doi: 10.1126/science.1145720. Epub 2007 Oct 11.
7
Spliceostatin A targets SF3b and inhibits both splicing and nuclear retention of pre-mRNA.剪接抑制素A作用于剪接因子3b(SF3b),并抑制前体信使核糖核酸(pre-mRNA)的剪接和核滞留。
Nat Chem Biol. 2007 Sep;3(9):576-83. doi: 10.1038/nchembio.2007.18. Epub 2007 Jul 22.
8
Mammalian polycomb-mediated repression of Hox genes requires the essential spliceosomal protein Sf3b1.哺乳动物中多梳蛋白介导的Hox基因抑制作用需要必需的剪接体蛋白Sf3b1。
Genes Dev. 2005 Mar 1;19(5):536-41. doi: 10.1101/gad.1284605.
9
ASF/SF2-regulated CaMKIIdelta alternative splicing temporally reprograms excitation-contraction coupling in cardiac muscle.ASF/SF2调控的CaMKIIdelta可变剪接在时间上对心肌中的兴奋-收缩偶联进行重新编程。
Cell. 2005 Jan 14;120(1):59-72. doi: 10.1016/j.cell.2004.11.036.
10
Dilated cardiomyopathy caused by tissue-specific ablation of SC35 in the heart.心脏中SC35的组织特异性消融导致的扩张型心肌病。
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剪接体作为髓系恶性肿瘤的罪魁祸首。

The spliceosome as an indicted conspirator in myeloid malignancies.

机构信息

Human Oncology and Pathogenesis Program, Leukemia Service, Memorial Sloan-Kettering Cancer Center, Weill Cornell Medical College, New York, NY 10065, USA.

出版信息

Cancer Cell. 2011 Oct 18;20(4):420-3. doi: 10.1016/j.ccr.2011.10.004.

DOI:10.1016/j.ccr.2011.10.004
PMID:22014568
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3218079/
Abstract

Reports of whole-exome sequencing in myelodysplastic syndrome (MDS) patients by Yoshida et al. and Papaemmanuil et al. suggest spliceosome mutations have clinical relevance. Identifying the impact of these mutations on MDS pathogenesis holds promise for therapeutic modulation of mRNA splicing.

摘要

Yoshida 等人和 Papaemmanuil 等人报道的骨髓增生异常综合征 (MDS) 患者全外显子测序报告表明剪接体突变具有临床相关性。确定这些突变对 MDS 发病机制的影响有望为调节 mRNA 剪接的治疗提供帮助。