Alzheimer Disease, Late Onset
|
0.400 |
Biomarker
|
disease |
CTD_human |
Phospholipase D1 corrects impaired betaAPP trafficking and neurite outgrowth in familial Alzheimer's disease-linked presenilin-1 mutant neurons.
|
16449385 |
2006 |
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 |
Biomarker
|
disease |
CTD_human |
Pick bodies in a family with presenilin-1 Alzheimer's disease.
|
15622541 |
2005 |
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 |
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 |
Homozygosity of allele 1 of a presenilin 1 intron 8 polymorphism (PS1-1) has been associated with doubling of the risk of sporadic late-onset Alzheimer disease (LOAD), in some, but not all studies.
|
10815136 |
2000 |
Alzheimer Disease, Late Onset
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Homozygosity of the G allele in IE1 and 1/1 genotype in PS-1 was associated with a doubling of risk for late-onset AD, and odds ratios were 2.223 and 2.066, respectively.
|
11775232 |
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 |
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 |
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 |
The presenilin-1 allele-1 frequencies were similar in patients with early onset Alzheimer's disease (0.61) and younger controls (0.61), and in those with late onset Alzheimer's disease (0.63) and elderly controls (0.63).
|
10329743 |
1999 |
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 |
Lack of association between an intronic polymorphism in the presenilin-1 gene and sporadic late-onset Alzheimer disease in Polish patients.
|
9622000 |
1998 |
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 |
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 |
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 |
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 |
T/G polymorphism at intron 9 of presenilin 1 gene is associated with, but not responsible for sporadic late-onset Alzheimer's disease in Japanese population.
|
9180219 |
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 |
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 |
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 |
Biomarker
|
disease |
CTD_human |
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.
|
7596406 |
1995 |
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 |