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    题名 作者 年代 出处 被引量
1Biomarker Discovery in Parkinson's Disease:Present Challenges and Future Opportunities显示文摘Parkinson's disease(PD)is the second most common neurodegenerative disorder affecting more than 1%of the older population.Histopathologically,PD is characterized by a severe loss of dopaminergic neurons in the substantia nigra and cytoplasmic inclusions composed of insoluble protein aggregates(Lewy bodies),which lead to a progressive movement disorder including the classic triad of tremor,bradykinesia,and rigidity.Song Li Weidong Le 2017Neuroscience Bulletin2017,33,5:5
2Association of Polygenic Risk Score with Age at Onset and Cerebrospinal Fluid Biomarkers of Alzheimer’s Disease in a Chinese Cohort显示文摘To evaluate whether the polygenic profile modifies the development of sporadic Alzheimer’s disease(sAD)and pathological biomarkers in cerebrospinal fluid(CSF),462 sAD patients and 463 age-matched cognitively normal(CN)controls were genotyped for 35 singlenucleotide polymorphisms(SNPs)that are significantly associated with sAD.Then,the alleles found to be associated with sAD were used to build polygenic risk score(PRS)models to represent the genetic risk.Receiver operating characteristic(ROC)analyses and the Cox proportional hazards model were used to evaluate the predictive value of PRS for the sAD risk and age at onset.We measured the CSF levels of Aβ42,Aβ42/Aβ40,total tau(T-tau),and phosphorylated tau(P-tau)in a subgroup(60 sAD and 200 CN participants),and analyzed their relationships with the PRSs.We found that 14 SNPs,including SNPs in the APOE,BIN1,CD33,EPHA1,SORL1,and TOMM40 genes,were associated with sAD risk in our cohort.The PRS models built with these SNPs showed potential for discriminating sAD patients from CN controls,and were able to predict the incidence rate of sAD and age at onset.Furthermore,the PRSs were correlated with the CSF levels of Aβ42,Aβ42/Aβ40,T-tau,and P-tau.Our study suggests that PRS models hold promise for assessing the genetic risk and development of AD.As genetic risk profiles vary among populations,large-scale genome-wide sequencing studies are urgently needed to identify the genetic risk loci of sAD in Chinese populations to build accurate PRS models for clinical practice.Wei-Wei Li Zhen Wang Dong-Yu Fan Ying-Ying Shen Dong-Wan Chen Hui-Yun Li Ling Li Heng Yang Yu-Hui Liu Xian-Le Bu Wang-Sheng Jin Fan Zeng Zhi-Qiang Xu Jin-Tai Yu Li-Yong Chen Yan-Jiang Wang 2020Neuroscience Bulletin2020,36,7:3
3干扰FBXO2表达对胃癌细胞增殖、侵袭、迁移及EMT的影响显示文摘目的:探讨F框蛋白2(F-box only protein 2,FBXO2)基因在人胃癌细胞系中表达及其对胃癌细胞增殖、迁移、侵袭和EMT的影响。方法:选择胃癌细胞系MGC-803、AGS、SGC-7901、MKN-28以及正常胃黏膜上皮细胞株GES-1,qPCR法检测细胞中FBXO2 mRNA表达水平。设计靶向抑制FBXO2表达的特异siRNA,并瞬时转染MGC-803细胞,转染siRNA无义序列的为阴性对照。qPCR法检测转染48 h后MGC-803细胞中FBXO2 mRNA表达水平;用MTT法、细胞划痕愈合法、Transwell小室法检测降低FBXO2表达对细胞增殖、迁移和侵袭的影响,WB法检测细胞中EMT相关蛋白E-cadherin、N-cadherin、vimentin的表达。结果:4种胃癌细胞中FBXO2 mRNA表达水平显著高于胃黏膜上皮细胞GES-1(P<0.05或P<0.01)。与阴性对照组相比,siRNAFBXO2组MGC-803细胞中FBXO2 mRNA表达下调(P<0.01),该细胞的增殖、迁移和侵袭能力受到显著抑制(P<0.05或P<0.01),E-cadherin蛋白表达明显升高(P<0.01),N-cadherin、vimentin蛋白表达显著降低(均P<0.01)。结论:低表达的FBXO2可抑制胃癌细胞的增殖、迁移和侵袭能力,该抑制作用可能与EMT过程有关。孙旭 朱军 李鑫 冯彩云 徐玲 赵琛健 章壮军 茆玲 2021中国肿瘤生物治疗杂志2021,28,10:2
4Parkinson's Disease Risk Variant rs1109303 Regulates the Expression of INPP5K and CRK in Human Brain显示文摘Dear Editor,Parkinson’s disease (PD) is the second most common neurodegenerative disease in the elderly (1, 2)PD affects1%–2%of the world’s population older than 65 years(3–5)In recent years, large-scale genome-wide association studies (GWAS) have been widely conducted to identify the common genetic risk genes for PD. A number of PD susceptibility genes have been identified, including SNCA,MAPT, NUCKS1, the HLA region, GAK, BST1, GBA,WNT3, RIT2, and LRRK2 [3–5].Guiyou Liu Yi Zhao Jing-yi Sun Bao-liang Sun 2019Neuroscience Bulletin2019,35,2:1
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