Alzheimer's Disease
|
|
0.090 |
GeneticVariation
|
BEFREE |
Our follow-up of this family may help elucidate E318G's role in AD and globally points to a null effect of this variant.
|
30381075 |
2019 |
Alzheimer's Disease
|
|
0.090 |
GeneticVariation
|
BEFREE |
A meta-analysis was performed to assess PSEN1 gene polymorphisms (rs1800839 and rs17125721) in Alzheimer's disease (AD) risk.
|
28821390 |
2017 |
Alzheimer's Disease
|
|
0.090 |
GeneticVariation
|
BEFREE |
Analyses in additional case-control datasets will be required to understand fully the effect of E318G on Alzheimer's disease status.
|
27357204 |
2016 |
Alzheimer's Disease
|
|
0.090 |
GeneticVariation
|
BEFREE |
The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers.
|
23990795 |
2013 |
Alzheimer's Disease
|
|
0.090 |
GeneticVariation
|
BEFREE |
The E318G mutation has not an assessed pathogenic function, but some data have highlighted a role as a risk factor for AD in a predisposed familiar background.
|
18525293 |
2008 |
Alzheimer's Disease
|
|
0.090 |
GeneticVariation
|
BEFREE |
The E318G substitution in PSEN1 gene is not connected with Alzheimer's disease in a large Polish cohort.
|
15003276 |
2004 |
Alzheimer's Disease
|
|
0.090 |
GeneticVariation
|
BEFREE |
These findings suggest that the Glu318Gly mutation may work as a genetic risk factor for Alzheimer's disease.
|
11755019 |
2002 |
Alzheimer's Disease
|
|
0.090 |
GeneticVariation
|
BEFREE |
Is the presenilin-1 E318G missense mutation a risk factor for Alzheimer's disease?
|
10643802 |
2000 |
Alzheimer's Disease
|
|
0.090 |
GeneticVariation
|
BEFREE |
The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease.
|
9851443 |
1998 |
Familial Alzheimer Disease (FAD)
|
|
0.050 |
GeneticVariation
|
BEFREE |
Prediction results, together with previous reports, suggest a correlation between rs17125721 and AD.
|
28554858 |
2017 |
Familial Alzheimer Disease (FAD)
|
|
0.050 |
GeneticVariation
|
BEFREE |
In the present study, we investigated the influence of nine presenilin 1 (PS1) mutations (P117R, M139V, L153V, H163R, S170F, F177L, I213F, L226F, E318G) on CC and Aβ production in immortalized B-lymphocytes from familial AD (FAD) patients and in stably transfected human embryonic kidney cells.
|
22810102 |
2012 |
Familial Alzheimer Disease (FAD)
|
|
0.050 |
GeneticVariation
|
BEFREE |
We found a significant association (p<0.05, Fisher's exact test) between the presence of PSEN-1 [E318G] and FAD.
|
16952411 |
2007 |
Familial Alzheimer Disease (FAD)
|
|
0.050 |
GeneticVariation
|
BEFREE |
These findings show that the frequency of the Glu318Gly mutation is increased in FAD patients, suggesting a potential role as a genetic risk factor contributing to the pathogenesis of familial AD.
|
12192622 |
2002 |
Familial Alzheimer Disease (FAD)
|
|
0.050 |
GeneticVariation
|
BEFREE |
We detected the E318G mutation in four FAD cases, seven sporadic AD cases and 10 control individuals with highly varying onset-ages.
|
10643802 |
2000 |
Alzheimer Disease, Early Onset
|
|
0.040 |
GeneticVariation
|
BEFREE |
The E318G variant was detected with similar frequencies in the cases with eoAD and FTLD and the healthy controls, therefore, showing no association between E318G and eoAD.
|
21959359 |
2013 |
Alzheimer Disease, Early Onset
|
|
0.040 |
GeneticVariation
|
BEFREE |
Early-onset Alzheimer disease in an Italian family with presenilin-1 double mutation E318G and G394V.
|
18525293 |
2008 |
Alzheimer Disease, Early Onset
|
|
0.040 |
GeneticVariation
|
BEFREE |
In addition, the Glu318Gly noncausative polymorphism in exon 9 was detected in two unrelated sporadic EOAD cases.
|
15119739 |
2004 |
Alzheimer Disease, Early Onset
|
|
0.040 |
GeneticVariation
|
BEFREE |
This observation is consistent with our previous finding that PSEN1 E318G is not causally related to AD.
|
10896268 |
2000 |
Presenile dementia
|
|
0.020 |
GeneticVariation
|
BEFREE |
We describe a large Italian family, which we followed from January 2003 to January 2018, with the late-onset AD and the E318G variant, with the aim of assessing E318G-associated CSF or plasma biochemical changes in biomarkers of dementia.
|
30381075 |
2019 |
Impaired cognition
|
|
0.020 |
GeneticVariation
|
BEFREE |
Additionally, we found that in the presence of at least one APOE-ε4 allele, p.E318G is associated with more Aβ plaques and faster cognitive decline.
|
23990795 |
2013 |
Mental deterioration
|
|
0.020 |
GeneticVariation
|
BEFREE |
Additionally, we found that in the presence of at least one APOE-ε4 allele, p.E318G is associated with more Aβ plaques and faster cognitive decline.
|
23990795 |
2013 |
Presenile dementia
|
|
0.020 |
GeneticVariation
|
BEFREE |
Two patients with presenile dementia and personality change were found to carry the PSEN1 Glu318Gly polymorphism.
|
16216949 |
2005 |
Familial Alzheimer's disease of early onset
|
|
0.020 |
GeneticVariation
|
BEFREE |
It could be concluded that E318G mutation is not related causally to AD in the Polish population, either as a risk factor or a disease causing mutation.
|
15003276 |
2004 |
Impaired cognition
|
|
0.020 |
GeneticVariation
|
BEFREE |
Follow-up studies should clarify whether the Glu318Gly mutation increases the risk of cognitive decline in later life.
|
11755019 |
2002 |
Mental deterioration
|
|
0.020 |
GeneticVariation
|
BEFREE |
Follow-up studies should clarify whether the Glu318Gly mutation increases the risk of cognitive decline in later life.
|
11755019 |
2002 |