早老素

早老素蛋白（presenilin.PS）的基因多态性与阿尔茨海默病（Alzheimer'SDisease，AD）发病关系密切。

The Presenilin ( PS ) gene polymorphism is closely associated with Alzheimer 's disease .

早老素与Notch信号系统的研究进展

The Study Advances of Presenilin Gene and Notch signaling

结论在我们研究的群体中，早老素-1基因启动子区-48C/T位点的多态性与LOAD无显著的遗传相关性。

Conclusion : No evident genetic association between - 48C / T polymorphism in presenilin-1 gene promoter and LOAD were found in our population-based sample .

探索早老素突变导致AD的机制，为疾病的预防和治疗提供依据。

To explore the mechanism of presenilin mutation causing Alzheimer 's disease and to provide the evidence for the prevention and treatment of AD.

早老素1对肿瘤抑制因子PTEN蛋白表达的调控作用分化抑制因子1与肿瘤发生发展相关性的研究进展

Presenilins Regulate the Cellular Level of Tumor Suppressor PTEN ; Advances in research of expression and role of Id-1 in tumor

阿尔茨海默病患者早老素-1基因与ApoE基因关联分析

Analysis of the interaction of the polymorphisms of presenilin 1 gene and ApoE gene in Alzheimer 's disease

两个看起来并不相关的研究方向：阿尔茨海默病（Alzheimers病）与发育细胞的特异分化已经在早老素（presenilin）基因和Notch基因水平上被联系起来。

Two seemingly unrelated avenues of research , Alzheimer 's disease and development cell specific differentiation , have intersected at the presenilin and Notch genes .

方法：采用常规酚抽提法从外周静脉血提取DNA，应用多聚酶链反应-单链构象多态性分析技术对被试者的早老素1基因第5号和第8号外显子进行突变检测。

METHODS : The conventional phenol extraction method was used to withdraw DNA from peripheral blood , and polymerase chain reaction-single strand conformation polymorphism analysis ( PCR-SCCP ) was applied to detect the mutation of the 5th and 8th exons in presenilin-1 gene .

目的探讨早老素1基因突变在家族性阿尔茨海默病（FAD）发病中的作用。

Objective To explore the effect of mutation of presenilin 1 ( PS 1 ) gene on the pathogenesis of familial Alzheimer disease ( FAD ) .

结论FAD及SAD患者存在PS-1基因第6外显子突变，上述两个突变位点均位于早老素蛋白的重要功能区，此突变可能为病理性突变。

Conclusion Mutations in exon 6 of presenilin-1 existed in the patients with FAD and SDA , and the two missense mutations were probably pathological by nature .

早老素1基因新突变（S170F）导致21～30岁发病伴lewy体的阿尔茨海默病

Novel presenilin 1 mutation ( S170F ) causing Alzheimer disease with lewy bodies in the third decade of life

DNA序列分析表明，这9例的早老素1基因第5外显子的136号密码子发生了GCT→GGT错义突变，使氨基酸由丙氨酸变为甘氨酸（Ala136Gly）；

DNA sequencing revealed a missense mutation of GCT to GGT in code 136 of PS 1 exon 5 , leading to the substitution of Ala with Gly ( Ala136Gly ), in these 9 persons .

家族性阿尔茨海默病早老素-1基因突变研究

Study on mutation of presenilin-1 gene in familial Alzheimer 's disease

痴呆患者早老素-1基因第6号外显子突变研究

New mutation of exon 6 of presenilin-1 in dementia sufferer

老年性痴呆致病基因早老素1突变作用机制的研究

Study on the mechanism of Alzheimer disease-related gene presenilin-1

早老素1基因多态性与迟发性阿尔茨海默病的遗传相关研究

Genetic association between presenilin 1 polymorphism and late onset Alzheimer ′ s disease

慢性脑灌注不足大鼠海马区早老素-1的表达

Expression of presenilin-1 in hippocampus area of brain in rats during chronic cerebrovascular insufficiency

早老素蛋白的研究进展

Advances in the Research of Presenilins

目的探讨痴呆患者早老素1基因第6号外显子的突变特点。

Objective To explore the role of the mutation of presenilin-1 exon 6 in pathogenesis of dementia sufferer .

背景：大多数早发家族性阿尔茨海默病与早老素1基因突变有关，这些突变大多数发生在第5号和第8号外显子。

BACKGROUND : Most cases of early-onset familial Alzheimer disease ( AD ) are associated with presenilin-1 mutation , which mainly occurs in the 5th and 8th exons .