期刊文献+
共找到2篇文章
< 1 >
每页显示 20 50 100
Study on differential gene expression profile of serum exosomes in patients with acute cerebral infarction 被引量:6
1
作者 TANG Rongmei CHEN Bowei +2 位作者 YI Jian LIU Baiyan LIN Huashan 《Digital Chinese Medicine》 2021年第4期305-315,共11页
Objective To analyze the differential gene expression profile of serum exosomes in patients with acute cerebral infarction(ACI)and clarify the changes in gene expression related to cerebral infarction injury and the p... Objective To analyze the differential gene expression profile of serum exosomes in patients with acute cerebral infarction(ACI)and clarify the changes in gene expression related to cerebral infarction injury and the potential serum markers.Methods Four patients with ACI and five healthy people were enrolled in the PhaseⅠstudy.After serum isolation from peripheral blood,exosomes were extracted with exosomes kits,highthroughput detection of m RNA was performed with gene chips,and differentially expressed m RNAs were screened.Gene Ontology(GO)functional analysis and Kyoto Encyclopedia of Genes and Genomes(KEGG)pathway enrichment analysis were performed simultaneously.Furthermore,real-time polymerase chain reaction(q RT-PCR)was used to verify the expression levels of the screened differential m RNAs in the serum exosomes collected in PhaseⅡfrom 32 patients each in the ACI case and normal control groups.Results In the PhaseⅠstudy,there were 248 differentially expressed m RNAs(fold change≥2.0,P<0.05)among five patients in the normal control group and four patients in the case group,of which the expression of 242 was upregulated and that of six was downregulated.The results of GO functional enrichment analysis mainly included behavior regulation,cell connection,and antioxidant activity.The results of KEGG pathway enrichment analysis mainly included ribosomes,proteasomes,oxytocin signaling pathways,and oxidative phosphorylation.After researching and screening based on relevant literature,it was found that among the genes with significant differential expression,H3 F3 B m RNA may be associated with and might play an important role in ACI.The q RT-PCR method was used to detect the H3 F3 B mRNA expression in serum exosomes of 32 patients each in the normal control and case groups in PhaseⅡ;the expression was significantly higher in serum exosomes of the case group than in those of the normal control group(P<0.001).H3 F3 B mRNA expression in serum exosomes of the case group positively correlated with age,the National Institutes of Health Stroke Scale(NIHSS)score,and the maximum infarct size(P<0.05).Conclusion ACI can lead to changes in the serum exosomes mRNA expression profile,which may be closely related to the occurrence,development,and prognosis of this condition.These findings will provide direction for research on the molecular mechanism,diagnostic markers,and therapeutic targets of ACI. 展开更多
关键词 Acute cerebral infarction(ACI) EXOSOMES MRNA Expression profile Gene chip h3f3b
下载PDF
BRYANT-LI-BHOJ神经发育综合征2型1例并文献复习
2
作者 周佳俊 朱敏 +3 位作者 赵晓科 陆芬 李薇 高园园 《中华实用儿科临床杂志》 CAS CSCD 北大核心 2024年第5期380-382,共3页
回顾性分析2022年10月在南京医科大学附属儿童医院康复医学科确诊的1例BRYANT-LI-BHOJ神经发育综合征2型(BRYLIB2)患儿临床资料。患儿,女,7月龄,因"发现运动发育落后6个月"就诊,主要表现为四肢肌张力低,竖头困难,追视、追听欠... 回顾性分析2022年10月在南京医科大学附属儿童医院康复医学科确诊的1例BRYANT-LI-BHOJ神经发育综合征2型(BRYLIB2)患儿临床资料。患儿,女,7月龄,因"发现运动发育落后6个月"就诊,主要表现为四肢肌张力低,竖头困难,追视、追听欠佳,逗笑欠佳,腭裂伴呼吸困难及喂养困难,临床诊断为全面性发育迟缓。全外显子测序显示患儿H3F3B基因新发杂合突变c.11(exon2)C>T,生物信息学分析提示该突变有害。结合既往文献及本例研究,结果显示患儿均表现发育迟缓,考虑为H3F3B基因突变导致的氨基酸序列改变,致使H3.3蛋白中翻译后修饰出现改变,从而引发患儿表观症状。本例为国内首次报道的BRYLIB2病例,丰富了H3F3B基因的变异谱和临床表型谱,为该病的临床诊疗及后续研究提供了基础。 展开更多
关键词 bRYANT-LI-bhOJ神经发育综合征2型 h3f3b基因 基因突变
原文传递
上一页 1 下一页 到第
使用帮助 返回顶部