rs63750424
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0.020 |
GeneticVariation |
BEFREE |
Frontotemporal dementia with parkinsonism linked to chromosome 17 with the MAPT R406W mutation presenting with a broad distribution of abundant senile plaques.
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25377499 |
2015 |
rs781049584
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0.020 |
GeneticVariation |
BEFREE |
Valproic acid reduces neuritic plaque formation and improves learning deficits in APP(Swe) /PS1(A246E) transgenic mice via preventing the prenatal hypoxia-induced down-regulation of neprilysin.
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24289518 |
2014 |
rs781049584
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0.020 |
GeneticVariation |
BEFREE |
In the present study we demonstrated that repeated hypoxia increased beta-amyloid (Abeta) generation and neuritic plaques formation by elevating beta-cleavage of APP in APP(swe)+PS1(A246E) transgenic mice.
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18063223 |
2009 |
rs63750311
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0.020 |
GeneticVariation |
BEFREE |
These findings suggest that (1) LB pathology can influence the clinical features of familial AD, (2) the E184D mutation of presenilin-1 may be associated with the LB formation through Abeta overproduction, although the process of LB formation is strongly affected by other unknown mechanisms, (3) in neurodegenerative disorders with LBs, there is a common pathophysiological background inducing NAC accumulation in neuritic plaques and astrocytes, and (4) the NAC accumulation in neuritic plaques is modulated by the abnormally aggregated tau protein.
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12410385 |
2002 |
rs63750264
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0.020 |
GeneticVariation |
BEFREE |
Expression of apoE3 and apoE4 in APP(V717F) TG, apoE(-/-) mice resulted in fibrillar Abeta deposits and neuritic plaques by 15 months of age and substantially (>10-fold) more fibrillar deposits were observed in apoE4-expressing APP(V717F) TG mice.
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10694577 |
2000 |
rs63750311
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0.020 |
GeneticVariation |
BEFREE |
Immunostaining showed that Abeta42 was predominant over Abeta40 in neuritic plaques in both patients, whereas Abeta40 was found to be predominant over Abeta42 in cerebral amyloid angiopathy in the patient with E184D.
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10644793 |
2000 |
rs63750424
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0.020 |
GeneticVariation |
BEFREE |
The first R406W</span> brain showed many NFT in affected regions with only a few diffuse amyloid plaques.
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11193139 |
2000 |
rs63750264
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0.020 |
GeneticVariation |
BEFREE |
The PDAPP transgenic mouse overexpresses human amyloid precursor protein V717F (PDAPP minigene) and develops age-related cerebral amyloid-beta protein (Abeta) deposits similar to senile plaques in Alzheimer's disease.
|
9278541 |
1997 |
rs34487851
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0.010 |
GeneticVariation |
BEFREE |
Genome-wide significant pleiotropic associations were observed for the joint model of NP and NFT (NP + NFT) with the single-nucleotide polymorphism (SNP) rs34487851 upstream of C2orf40 (alias ECRG4, P = 2.4 × 10<sup>-8</sup>) and for the joint model of NFT and CAA (NFT + CAA) with the HDAC9 SNP rs79524815 (P = 1.1 × 10<sup>-8</sup>).
|
29458411 |
2018 |
rs79524815
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|
0.010 |
GeneticVariation |
BEFREE |
Genome-wide significant pleiotropic associations were observed for the joint model of NP and NFT (NP + NFT) with the single-nucleotide polymorphism (SNP) rs34487851 upstream of C2orf40 (alias ECRG4, P = 2.4 × 10<sup>-8</sup>) and for the joint model of NFT and CAA (NFT + CAA) with the HDAC9 SNP rs79524815 (P = 1.1 × 10<sup>-8</sup>).
|
29458411 |
2018 |
rs6910730
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0.010 |
GeneticVariation |
BEFREE |
We provide evidence that an intronic variant, rs6910730(G) , in TREM1, is associated with an increased burden of neuritic plaques (p = 3.7 × 10(-4) ), diffuse plaques (p = 4.1 × 10(-3) ), and Aβ density (p = 2.6 × 10(-3) ) as well as an increased rate of cognitive decline (p = 5.3 × 10(-3) ).
|
25545807 |
2015 |
rs10908821
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0.010 |
GeneticVariation |
BEFREE |
Younger CCGCAC carriers (risk allele of rs2774276 and protective of rs10908821) were more likely to have non-neuritic and diffuse SP.
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22390463 |
2012 |
rs2774276
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0.010 |
GeneticVariation |
BEFREE |
Younger CCGCAC carriers (risk allele of rs2774276 and protective of rs10908821) were more likely to have non-neuritic and diffuse SP.
|
22390463 |
2012 |
rs2794521
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0.010 |
GeneticVariation |
BEFREE |
Conversely, the low-CRP C allele (39.3%) of rs2794521 reduced the risk of harbouring early non-neuritic SP, compared to the TT genotype.
|
21831326 |
2011 |
rs3091244
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0.010 |
GeneticVariation |
BEFREE |
In multivariate analyses (age- and APOE-adjusted), non-neuritic SP were associated with the high-CRP TA-genotype (3.0% prevalence) of rs3091244 and CA-genotype (10.8%) of rs3093075 compared to common genotypes.
|
21831326 |
2011 |
rs3093075
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0.010 |
GeneticVariation |
BEFREE |
In multivariate analyses (age- and APOE-adjusted), non-neuritic SP were associated with the high-CRP TA-genotype (3.0% prevalence) of rs3091244 and CA-genotype (10.8%) of rs3093075 compared to common genotypes.
|
21831326 |
2011 |
rs63750579
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0.010 |
GeneticVariation |
BEFREE |
The APP(E693Q) mice did not develop amyloid plaques at any age studied, up to 30 months.
|
20641005 |
2010 |
rs1035071612
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0.010 |
GeneticVariation |
BEFREE |
In the present study, we have investigated the extent of amyloid beta protein (Abeta) deposition as cerebral amyloid angiopathy (CAA) or senile plaques (SP) in relationship to OLR1 +1071 and +1073 polymorphisms and LRP1 C766T polymorphism in patients with AD There was an increased Abeta40 load as CAA, but not as SP, in frontal cortex of AD patients carrying OLR1+1073 CC genotype, compared to those with CT, TT or CT+TT genotypes, but only in those individuals without apolipoprotein (APOE) epsilon4 allele.
|
16328515 |
2006 |
rs74315409
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0.010 |
GeneticVariation |
BEFREE |
Susceptibility varied considerably depending on prions inoculated: highly susceptible to MM1 and MV1 types of sporadic Creutzfeldt-Jakob disease (CJD), developing disease within approximately 150 days, familial CJD with M232R mutation, and dura graft-associated CJD (dCJD) without amyloid plaque; less susceptible to MM2-type sporadic CJD and variant CJD, with some mice lacking any sign of transmission; and totally resistant to VV2 type sporadic CJD and dCJD with amyloid plaque.
|
14633630 |
2003 |
rs1412095491
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0.010 |
GeneticVariation |
BEFREE |
Immunostaining showed that Abeta42 was predominant over Abeta40 in neuritic plaques in both patients, whereas Abeta40 was found to be predominant over Abeta42 in cerebral amyloid angiopathy in the patient with E184D.
|
10644793 |
2000 |
rs191838178
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|
0.010 |
GeneticVariation |
BEFREE |
The first R406W</span> brain showed many NFT in affected regions with only a few diffuse amyloid plaques.
|
11193139 |
2000 |
rs63750215
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|
0.010 |
GeneticVariation |
BEFREE |
Immunocytochemical examination of brains from individuals with the N141I PS2 mutation or eight different PS1 mutations, spanning the molecule from the second transmembrane domain to the large cytoplasmic loop domain, revealed immunodecoration of no senile plaques and only neurofibrillary tangles in the M139I PS1 mutation stained with PS1 antibodies.
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11126202 |
2000 |
rs63750522
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|
0.010 |
GeneticVariation |
BEFREE |
Immunocytochemical examination of brains from individuals with the N141I PS2 mutation or eight different PS1 mutations, spanning the molecule from the second transmembrane domain to the large cytoplasmic loop domain, revealed immunodecoration of no senile plaques and only neurofibrillary tangles in the M139I PS1 mutation stained with PS1 antibodies.
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11126202 |
2000 |
rs765670175
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|
0.010 |
GeneticVariation |
BEFREE |
Immunocytochemical examination of brains from individuals with the N141I PS2 mutation or eight different PS1 mutations, spanning the molecule from the second transmembrane domain to the large cytoplasmic loop domain, revealed immunodecoration of no senile plaques and only neurofibrillary tangles in the M139I PS1 mutation stained with PS1 antibodies.
|
11126202 |
2000 |
rs63750671
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|
0.010 |
GeneticVariation |
BEFREE |
Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala-->Gly mutation.
|
9754958 |
1998 |