|
rs1038162399
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Generation and deposition of Aβ43 by the virtually inactive presenilin-1 L435F mutant contradicts the presenilin loss-of-function hypothesis of Alzheimer's disease.
|
26988102 |
2016 |
|
rs1041833271
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Neuropathologic and molecular studies in brains of carriers of the PSEN1 p.A396T mutation or other PSEN1 or PSEN2 mutations associated with the coexistence of DLBD and AD are needed to clarify whether tau and α-synuclein proteinopathies occur independently or whether a relationship exists between α-synuclein and tau that might explain the mechanisms of coaggregation.
|
31165862 |
2019 |
|
rs113145702
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our findings suggest that both I249L and P433S are pathogenic for early onset of AD by increasing Aβ42 production and Aβ42/Aβ40 ratios.
|
31235249 |
2019 |
|
rs1183474845
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Cerebral inoculation of human A53T α-synuclein reduces spatial memory decline and amyloid-β aggregation in APP/PS1 transgenic mice of Alzheimer's disease.
|
30366065 |
2018 |
|
rs1191863771
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The presenilin-1 (PS1) gene mutation (Pro117Leu), recently identified in a Polish family is characterized by the earliest reported onset (from 24-31 years) of Alzheimer disease (AD) and a very short duration of disease (4-6 years).
|
9737546 |
1998 |
|
rs1193124736
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
We crossed the D257A mice with a well-established transgenic AD mouse model (APP/Ld) that develops amyloid plaques.
|
24885175 |
2014 |
|
rs1200601649
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
We identified two novel mutations of <i>PSEN1</i> (Y256N and H214R) in samples from these families, and a <i>de novo</i> mutation of <i>PSEN1</i> (G206V) in a patient with very early-onset sporadic Alzheimer's disease.
|
31440394 |
2019 |
|
rs1220355764
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Generation of an integration-free iPSC line, ICCSICi006-A, derived from a male Alzheimer's disease patient carrying the PSEN1-G206D mutation.
|
31627126 |
2019 |
|
rs1224230940
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Five point mutations within the amyloid beta-protein (Abeta) sequence of the APP gene are associated with hereditary diseases which are similar or identical to Alzheimer's disease and encode: the A21G (Flemish), E22G (Arctic), E22K (Italian), E22Q (Dutch) and the D23N (Iowa) amino acid substitutions.
|
18602473 |
2008 |
|
rs1260168075
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our findings suggest that the 1239G/C polymorphism in exon 5 of BACE1 gene may be associated with sporadic AD in Chinese Hans.
|
14681914 |
2004 |
|
rs1281129992
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The M139V mutation can lead to atypical AD, and genetic background may have a role in determining the phenotype of genetically defined AD.
|
12810495 |
2003 |
|
rs1287723181
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
PSEN1 p.L226R was found in an early-onset AD (EOAD) family characterized by language impairment at disease onset, a novel probably pathogenetic variant (p.D534H) was identified in a frontal-temporal dementia gene, TANK-binding kinase 1 (TBK1) with a typical AD phenotype in a late-onset AD (LOAD) family, and a PSEN2p.H169N mutation and two benign MAPT (p.Q230R and p.V48L) mutations were detected in three EOAD patients.
|
30549411 |
2019 |
|
rs1297968881
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Five point mutations within the amyloid beta-protein (Abeta) sequence of the APP gene are associated with hereditary diseases which are similar or identical to Alzheimer's disease and encode: the A21G (Flemish), E22G (Arctic), E22K (Italian), E22Q (Dutch) and the D23N (Iowa) amino acid substitutions.
|
18602473 |
2008 |
|
rs1315025573
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
We identified two novel mutations of <i>PSEN1</i> (Y256N and H214R) in samples from these families, and a <i>de novo</i> mutation of <i>PSEN1</i> (G206V) in a patient with very early-onset sporadic Alzheimer's disease.
|
31440394 |
2019 |
|
rs1412095491
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Postmortem examination of one patient with N405S showed limited cerebral amyloid angiopathy, whereas postmortem examination of another Japanese patient with Alzheimer's disease with the E184D mutation disclosed severe cerebral amyloid angiopathy.
|
10644793 |
2000 |
|
rs199887707
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The M139V mutation can lead to atypical AD, and genetic background may have a role in determining the phenotype of genetically defined AD.
|
12810495 |
2003 |
|
rs200074159
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
In a "combined" model, expressing both tau(V337M) and the familial amyloid precursor protein AD mutation APP(V717I) in a CT100 fragment, age-dependent tau phosphorylation occurred at the same sites and was significantly augmented compared to "single" tau(V337M) mice.
|
15601849 |
2005 |
|
rs200347552
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Presenilin 2 mutation R71W in an Italian early-onset sporadic Alzheimer's disease case.
|
21544564 |
2011 |
|
rs200396597
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
We describe a targeted exome sequencing analysis of a large Italian kindred with AD, negative for PSEN and APP variants, that indicated the SEZ6 heterozygous mutation R615H is associated with the pathology.
|
30309378 |
2018 |
|
rs200620364
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
A rare variant in PLD3 (phospholipase D3; Val232Met) segregated with disease status in two independent families and doubled risk for Alzheimer's disease in seven independent case-control series with a total of more than 11,000 cases and controls of European descent.
|
24336208 |
2014 |
|
rs201093867
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
We identified two novel mutations of <i>PSEN1</i> (Y256N and H214R) in samples from these families, and a <i>de novo</i> mutation of <i>PSEN1</i> (G206V) in a patient with very early-onset sporadic Alzheimer's disease.
|
31440394 |
2019 |
|
rs201792381
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Finally, we determined that the microvasculature length in two other Alzheimer's disease mouse models, APP and PS1 double-transgenic mice and P301S Tau-transgenic mice, is also shortened in the dentate gyrus.
|
29260371 |
2018 |
|
rs202218688
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
PSEN1 p.L226R was found in an early-onset AD (EOAD) family characterized by language impairment at disease onset, a novel probably pathogenetic variant (p.D534H) was identified in a frontal-temporal dementia gene, TANK-binding kinase 1 (TBK1) with a typical AD phenotype in a late-onset AD (LOAD) family, and a PSEN2p.H169N mutation and two benign MAPT (p.Q230R and p.V48L) mutations were detected in three EOAD patients.
|
30549411 |
2019 |
|
rs2830077
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The strongest single variant signal (rs2830077; empirical p = 0.018), within the APP gene, was confirmed in the AD sample (p = 2.76E-03).
|
28671113 |
2017 |
|
rs364048
|
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
After adjustments for age, sex, and APOE ε4 status, only one target SNP, rs463946 was associated with the risk of sAD in the dominant (OR 1.52, 95 % CI 1.01-2.29, P = 0.045) and overdominant models (OR 1.59, 95 % CI 1.04-2.43, P = 0.031); the results also showed a borderline association of rs364048 (OR 1.53, 95 % CI 1.00-2.34, P = 0.048) and rs466433 (OR 1.53, 95 % CI 1.00-2.34, P = 0.048) with the risk of sAD in the overdominant model.
|
25631235 |
2015 |