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强直性脊柱炎遗传病因机制研究进展
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作者 戚晓军 陈立群 +1 位作者 崔凤俊 綦瑞霞 《中国医药科学》 2013年第4期35-37,共3页
强直性脊柱炎是一种遗传因素为主导的多基因疾病,除HLA-B27外,尚有HLA-B60(HLA-B*40∶01)等MHC基因和ERAP1、IL23R、LTBR、TNFRSF1A、TBKBP1、KIF21B、RUNX3、染色体2p15、21q22内基因沙漠和IL-1基因簇等非MHC基因及IL1R2、ANTXR2、TNFR... 强直性脊柱炎是一种遗传因素为主导的多基因疾病,除HLA-B27外,尚有HLA-B60(HLA-B*40∶01)等MHC基因和ERAP1、IL23R、LTBR、TNFRSF1A、TBKBP1、KIF21B、RUNX3、染色体2p15、21q22内基因沙漠和IL-1基因簇等非MHC基因及IL1R2、ANTXR2、TNFR1、KIR、ANKH、CYP2D6*4、5q14.3和ANO6等其他基因参与。该部分新易感基因和标记位点的发现,丰富了我们对AS发病机制的基因水平认识,并且完善了AS的发病假说。 展开更多
关键词 强直性脊柱炎 遗传机制 MHC基因 非MHC基因 其他基因
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Global impact of RNA splicing on transcriptome remodeling in the heart 被引量:2
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作者 Chen GAO Yibin WANG 《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》 SCIE CAS CSCD 2012年第8期603-608,共6页
In the eukaryotic transcriptome, both the numbers of genes and different RNA species produced by each gene contribute to the overall complexity. These RNA species are generated by the utilization of different transcri... In the eukaryotic transcriptome, both the numbers of genes and different RNA species produced by each gene contribute to the overall complexity. These RNA species are generated by the utilization of different transcriptional initiation or termination sites, or more commonly, from different messenger RNA (mRNA) splicing events. Among the 30 000+ genes in human genome, it is estimated that more than 95% of them can generate more than one gene product via alternative RNA splicing. The protein products generated from different RNA splicing variants can have different intracellular localization, activity, or tissue-distribution. Therefore, alternative RNA splicing is an important molecular process that contributes to the overall complexity of the genome and the functional specificity and diversity among different cell types. In this review, we will discuss current efforts to unravel the full complexity of the cardiac transcriptome using a deep-sequencing approach, and highlight the potential of this technology to uncover the global impact of RNA splicing on the transcriptome during development and diseases of the heart. 展开更多
关键词 Alternative RNA splicing Transcriptome Gene regulation HEART RNA-SEQ
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