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基于表观基因组学数据分析阿尔茨海默病中差异基因表达的研究

open access: yesZhongguo shiyan zhenduanxue
目的 利用表观基因组学数据探究阿尔茨海默病(Alzheimer’s disease, AD)中差异基因的表达。方法 从GEO(gene expression omnibus, GEO)数据库中下载mRNA表达微阵列数据集GSE1297和GSE4757,以及DNA甲基化450 K芯片数据集GSE125895,利用Bioconductor包进行数据预处理,使用R中的limma包筛选出差异表达基因(differentially expressed genes, DEGs)和差异甲基化基因 ...
于倩   +6 more
doaj  

[Analysis and clinical characteristics of <i>SLC26A4</i> gene mutations in 72 cases of large vestibular aqueduct syndrome]. [PDF]

open access: yesLin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
Liu Y   +13 more
europepmc   +1 more source

三个石骨症致病基因内的新突变及其基因型-表型

open access: yesZhongshan Daxue xuebao. Yixue kexue ban, 2016
【目的】 对2例恶性石骨症以及1例ADOⅡ型石骨症患者的致病基因TCIRG1及CLCN7进行致病性突变的研究,以扩展突变谱,为开发针对突变类型的产前诊断性芯片的设计提供数据支持。【方法】 收集3名石骨症患者及其父母的外周血,提取DNA,PCR扩增TCIRG1及CLCN7基因的所有外显子及剪切位点序列,对PCR产物进行Sanger测序并进行生物信息学分析,同时对新发现的突变在50名正常对照中进行测序,以排除良性多态性。【结果】 在患者1的TCIRG1基因第4外显子发现缺失突变c.242delC (p ...
doaj  

[Prediction of hearing change in children with enlarged vestibular aqueduct with different genotypes by linear mixed-effects model]. [PDF]

open access: yesLin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
Deng L   +7 more
europepmc   +1 more source

[Spatial omics in pulmonary fibrosis: advancing mechanistic insights and therapeutic strategies]. [PDF]

open access: yesZhejiang Da Xue Xue Bao Yi Xue Ban
Peng Y, Xie Y, Yang F, Qiao X, Tian Y.
europepmc   +1 more source

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