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目的 对克氏综合征(Klinefelter syndrome)患者进行基因表达谱分析,探讨其基因差异表达与临床表型之间的关系.方法 采用第二代高通量测序方法对7例克氏综合征患者和7例对照男性外周血全基因组mRNA进行深度测序,运用定量RT-PCR方法对30例克氏综合征患者及30例对照男性进行验证.结果 测序结果根据FDR≤0.001和| log2 Ratio≥1 |的标准,两组比较存在差异表达基因216个,差异具有统计学意义.其中X染色体基因9个,占4%,与X染色体失活相关的XIST差异表达最明显;常染色体基因207个,占96%,其中NR4A3、ZKSCAN4、HBEGF、EREG、AREG、NR4A2、CCR5差异表达明显.NR4A3主要.与2型糖尿病有关,HBEGF主要参与促性腺激素分泌过程.Y染色体不存在显著差异表达基因.结论 克氏综合征患者不仅多余X染色体基因差异表达,还有大量常染色体基因差异表达,这可能是克氏综合征临床表型多样化的原因.  相似文献   
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Triple negative breast cancer (TNBC) is an aggressive subtype of breast cancer that currently lacks effective biomarkers and therapeutic targets required to investigate the diagnosis and treatment of TNBC. Here we performed a comprehensive differential analysis of 165 TNBC samples by integrating RNA-seq data of breast tumor tissues and adjacent normal tissues from both our cohort and The Cancer Genome Atlas (TCGA). Pathway enrichment analysis was conducted to evaluate the biological function of TNBC-specific expressed genes. Further multivariate Cox proportional hazard regression was performed to evaluate the effect of these genes on TNBC prognosis. In this report, we identified a total of 148 TNBC-specific expressed genes that were primarily enriched in mammary gland morphogenesis and hormone levels related pathways, suggesting that mammary gland morphogenesis might play a unique role in TNBC patients differing from other breast cancer types. Further survival analysis revealed that nine genes (FSIP1, ADCY5, FSD1, HMSD, CMTM5, AFF3, CYP2A7, ATP1A2, and C11orf86) were significantly associated with the prognosis of TNBC patients, while three of them (ADCY5, CYP2A7, and ATP1A2) were involved in the hormone-related pathways. These findings indicated the vital role of the hormone-related genes in TNBC tumorigenesis and may provide some independent prognostic markers as well as novel therapeutic targets for TNBC.  相似文献   
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《Immunity》2021,54(10):2417-2432.e5
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《Immunity》2021,54(12):2712-2723.e6
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Background

Robust methods to culture primary airway epithelial cells were developed several decades ago and these cells provide the model of choice to investigate many diseases of the human lung. However, the molecular signature of cells from different regions of the airway epithelium has not been well characterized.

Methods

We utilize DNase-seq and RNA-seq to examine the molecular signatures of primary cells derived from human tracheal and bronchial tissues, as well as healthy and diseased (cystic fibrosis (CF)) donor lung tissue.

Results

Our data reveal an airway cell signature that is divergent from other epithelial cell types and from common airway epithelial cell lines. The differences between tracheal and bronchial cells are clearly evident as are common regulatory features. Only minor variation is seen between bronchial cells from healthy or CF donors.

Conclusions

These data are a valuable resource for functional genomics analysis of airway epithelial tissues in human disease.  相似文献   
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目的 为了初步了解广藿香酮抗金黄色葡萄球菌(Staphylococcus aureus)的分子机制。方法 本研究用琼脂稀释法测定广藿香酮的药物敏感性,通过对金黄色葡萄球菌ATCC25923在1倍最低抑菌浓度(minimum inhibitory concentration, MIC)广藿香酮药物浓度作用1h时进行转录组的高通量测序然后对数据进行KEGG(kyoto encyclopedia of genes and genomes)和GO(gene ontology)差异基因表达以及热图聚类分析。结果 药敏实验发现广藿香酮对金黄色葡萄球菌有抑制活性,经广藿香酮处理后,筛选出225个差异表达的基因,发现广藿香酮使金黄色葡萄球菌膜蛋白的表达、蛋白质的合成发生变化,并且使葡萄糖以及多糖的转运和合成受到控制。结论 广藿香酮可能与金黄色葡萄球菌的细胞膜蛋白相互作用从而抑制细菌生长,为进一步的实验提供数据支持。  相似文献   
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