Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Extreme cerebrospinal fluid amyloid beta levels identify family with late-onset Alzheimer's disease presenilin 1 mutation.
|
17366635 |
2007 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Presenilin-1 intron 8 polymorphism is not associated with autopsy-confirmed late-onset Alzheimer's disease.
|
9121726 |
1997 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our results support an association between apoE epislon4 and AD in Chinese, but not between the intronic polymorphism of the PS-1 gene and AD.
|
9619639 |
1998 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We analyzed the distribution of the PS-1 intronic polymorphism in patients with sporadic AD and in seven familial AD (FAD) families carrying pathogenetic mutations in the amyloid precursor protein (APP) and Presenilin (PS-1 and PS-2) genes.
|
9111746 |
1997 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Novel presenilin 1 mutations associated with early onset of dementia in a family with both early-onset and late-onset Alzheimer disease.
|
11030797 |
2000 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our findings support an association between the PS-1 polymorphism and LOAD, finding homozygosity for allele 1 associated with an approximately two-fold increased risk.
|
10482954 |
1999 |
Alzheimer Disease, Late Onset
|
0.400 |
Biomarker
|
disease |
BEFREE |
Female and male transgenic AD model mice expressing APPswe/PSEN1ΔE9 require Pyk2 for age-dependent loss of synaptic markers and for impairment of learning and memory.
|
30518596 |
2019 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Novel presenilin 1 mutation (Ile408Thr) in an Italian family with late-onset Alzheimer's disease.
|
26549787 |
2016 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These results argue for a specific role of PS-1 allele 1 in the pathogenesis of AD, rather than suggesting a broader role for this allele as, for example, in vascular dementia.
|
9270069 |
1997 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Homozygosity of the 1 allele in the PS-1 gene was associated with a doubling of the risk for late-onset Alzheimer's disease compared with the [12]/[22] genotype (odds ratio 1.97, 95% Cl 1.29-3.00).
|
8596269 |
1996 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The aim of the current study is to determine whether there is an association between the intronic polymorphism of the presenilin-1 gene and late-onset Alzheimer's disease in a cohort of Turkish patients.
|
19017784 |
2008 |
Alzheimer Disease, Late Onset
|
0.400 |
Biomarker
|
disease |
BEFREE |
We measured MAPT promoter methylation in a brain tissue cohort of early-onset Alzheimer's disease (EOAD) with defined causative mutations in the PSEN1 gene (Normal = 10, PSEN1 AD = 10), and idiopathic late-onset Alzheimer's disease (Normal = 12, LOAD = 12).
|
26159201 |
2015 |
Alzheimer Disease, Late Onset
|
0.400 |
Biomarker
|
disease |
BEFREE |
However, one of the two forms of the mRNA for PS-1, the long form (which contains a sequence encoding a four amino acid (VRSQ) insert at its 5' end) was significantly reduced in early onset FAD brain compared with late onset AD.
|
8910899 |
1996 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Failure to detect missense mutations in the S182 gene in a series of late-onset Alzheimer's disease cases.
|
8848249 |
1995 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our data do not support an association between the intronic polymorphism of the PS-1 gene and AD and there was no interaction between the PS-1 genotype and apolipoprotein E epsilon4 allele.
|
10500259 |
1999 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A Novel PSEN1 K311R Mutation Discovered in Chinese Families with Late-Onset Alzheimer's Disease Affects Amyloid-β Production and Tau Phosphorylation.
|
28269784 |
2017 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Late-onset AD may be associated with deterministic PS1 mutations; these should be sought when the family history suggests autosomal dominant disease transmission.
|
17188713 |
2007 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations or upregulation in presenilin 1 (PS1) gene are found in familial early-onset Alzheimer's disease or sporadic late-onset Alzheimer's disease, respectively.
|
28753475 |
2017 |
Alzheimer Disease, Late Onset
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Together, our results do not support a major role for variable expression of PSEN1 in LOAD.
|
11757955 |
2001 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in PSEN1 (p.T119I) in an Argentine family with early- and late-onset Alzheimer's disease.
|
31153663 |
2020 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In summary, we found an association between presenilin 1 intronic polymorphism and LOAD, but no influence of APOE epsilon4 on the distribution of the PS1 intronic polymorphism.
|
16938285 |
2006 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Previous work suggests an association between allele 1 and the 1-1 genotype of an intronic polymorphism in the presenilin-1 (PS-1) gene and late onset Alzheimer's disease.
|
8930979 |
1996 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recent suggestions that other loci are involved in dementia risk have been supported by findings of associations of genotypes at the alpha-1 antichymotrypsin (ACT) and presenilin-1 (PS-1) loci with AD.
|
9129727 |
1997 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Wragg et al.[1996: Lancet 347:509-512] recorded an association between the intron-based presenilin 1 (PS1) genotype 1/1 and late-onset Alzheimer's disease (AD).
|
10050959 |
1999 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Presenilin-1 2/2 genotype is a risk factor for late onset Alzheimer disease in the Spanish population, and probably, for Europeans.
|
17719017 |
2007 |