SWI/SNF chromatin-remodeling complexes in cardiovascular development and disease.
SWI/SNF chromatin-remodeling complexes in cardiovascular development and disease.
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DOI：
10.1016/j.carpath.2013.09.003
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发表时间：
2014-03
影响因子：
3.7
通讯作者：
Bultman, Scott J.
中科院分区：
文献类型：
--
作者：
Bevilacqua, Ariana;Willis, Monte S.;Bultman, Scott J.
我们对先天性心脏病的理解最近通过全外显子组测序项目得到了推进，该项目已经确定了许多编码表观遗传调节因子的基因中的从头突变。值得注意的是，SWI/SNF染色质重塑复合物的多个亚基已被鉴定为这些缺陷的强有力的候选者，因为它们在物理上和功能上与对心脏发育至关重要的心源性转录因子如TBX 5、加塔-4和NKX 2 -5相互作用。虽然这些研究表明SWI/SNF复合物在心脏发育和先天性心脏病中的关键作用，但许多令人兴奋的新发现已经确定了它们在成人心脏中的关键作用，包括心脏中的多种细胞类型，包括心肌细胞，血管内皮细胞，周细胞和神经嵴细胞。本文综述了SWI/SNF染色质重塑复合物在心脏发育、先天性心脏病、心脏肥大和血管内皮细胞存活中的作用。尽管SWI/SNF突变的临床相关性传统上主要集中在它们在肿瘤抑制中的作用，但这些最近的研究说明了它们在心脏中的关键作用，从而它们调节心脏衍生细胞系的细胞增殖、分化和凋亡。
Our understanding of congenital heart defects has been recently advanced by whole exome sequencing projects, which have identified de novo mutations in many genes encoding epigenetic regulators. Notably, multiple subunits of SWI/SNF chromatin-remodeling complexes have been identified as strong candidates underlying these defects because they physically and functionally interact with cardiogenic transcription factors critical to cardiac development, such as TBX5, GATA-4, and NKX2-5. While these studies indicate a critical role of SWI/SNF complexes in cardiac development and congenital heart disease, many exciting new discoveries have identified their critical role in the adult heart in both physiological and pathological conditions involving multiple cell types in the heart, including cardiomyocytes, vascular endothelial cells, pericytes, and neural crest cells. This review summarizes the role of SWI/SNF chromatinremodeling complexes in cardiac development, congenital heart disease, cardiac hypertrophy, and vascular endothelial cell survival. Although the clinical relevance of SWI/SNF mutations has traditionally been focused primarily on their role in tumor suppression, these recent studies illustrate their critical role in the heart whereby they regulate cell proliferation, differentiation, and apoptosis of cardiac derived cell lines.
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哺乳动物SWI/SNF复合物的蛋白质组学和生物信息学分析确定了在人类恶性肿瘤中的广泛作用。
影响因子：
30.8
作者：
Kadoch, Cigall;Hargreaves, Diana C.;Hodges, Courtney;Elias, Laura;Ho, Lena;Ranish, Jeff;Crabtree, Gerald R.
通讯作者：
Crabtree, Gerald R.
DOI：
10.1073/pnas.1218072110
发表时间：
2013-01-29
影响因子：
11.1
作者：
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通讯作者：
Chang, Ching-Pin
影响因子：
4.6
作者：
Davis, Reema B.;Curtis, Carol D.;Griffin, Courtney T.
通讯作者：
Griffin, Courtney T.
DOI：
10.1073/pnas.1013751108
发表时间：
2011-02-08
影响因子：
11.1
作者：
Griffin, Courtney T.;Curtis, Carol D.;Magnuson, Terry
通讯作者：
Magnuson, Terry
影响因子：
4.8
作者：
Chen, Meng;Herring, B. Paul
通讯作者：
Herring, B. Paul