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首页> 外文期刊>Journal of child neurology >Analysis of Altered Micro RNA Expression Profiles in Focal Cortical Dysplasia IIB
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Analysis of Altered Micro RNA Expression Profiles in Focal Cortical Dysplasia IIB

机译:局灶性皮质发育异常IIB中微小RNA表达谱变化的分析

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Focal cortical dysplasia type IIB is a commonly encountered subtype of developmental malformation of the cerebral cortex and is often associated with pharmacoresistant epilepsy. In this study, to investigate the molecular etiology of focal cortical dysplasia type IIB, the authors performed micro ribonucleic acid (RNA) microarray on surgical specimens from 5 children (2 female and 3 male, mean age was 73.4 months, range 50-112 months) diagnosed of focal cortical dysplasia type IIB and matched normal tissue adjacent to the lesion. In all, 24 micro RNAs were differentially expressed in focal cortical dysplasia type IIB, and the microarray results were validated using quantitative real-time polymerase chain reaction (PCR). Then the putative target genes of the differentially expressed micro RNAs were identified by bioinformatics analysis. Moreover, biological significance of the target genes was evaluated by investigating the pathways in which the genes were enriched, and the Hippo signaling pathway was proposed to be highly related with the pathogenesis of focal cortical dysplasia type IIB.
机译:局灶性皮质发育异常IIB型是大脑皮层发育畸形的常见子类型,通常与耐药性癫痫有关。在这项研究中,为研究IIB型局灶性皮质发育不良的分子病因,作者对5名儿童(2名女性和3名男性,平均年龄73.4个月,范围50-112个月)的手术标本进行了微核糖核酸(RNA)微阵列分析。 )被诊断为IIB型局灶性皮质发育不良并与病变相邻的正常组织相匹配。总共有24个微RNA在IIB型局灶性皮质发育异常中差异表达,并使用定量实时聚合酶链反应(PCR)验证了微阵列结果。然后通过生物信息学分析鉴定差异表达的微小RNA的推定靶基因。此外,通过研究富集基因的途径来评估靶基因的生物学意义,并提出了Hippo信号通路与局灶性皮质发育异常IIB型的发病机理高度相关。

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