|
rs1362575880
|
|
|
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 |
|
rs1446915570
|
|
|
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 |
|
rs63749925
|
|
|
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 |
|
rs63749961
|
|
|
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 |
|
rs63750444
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The reported PS1-G217D iPSC line may be used to model and study human AD pathology in vitro.
|
30677723 |
2019 |
|
rs63750599
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of this article is to report on an early-onset AD patient associated with the rare pathogenic variant PSEN1 (Leu85Pro) presenting as a possible corticobasal syndrome with asymmetric limb apraxia, parkinsonian signs, and myoclonus.
|
31282415 |
2019 |
|
rs63750800
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we therefore developed and used induced pluripotent stem cell (iPSC) lines from a middle-aged AD patient with a known presenilin 1 (PSEN1) mutation (Glu120Lys; PS1-E120K) and as a control, an elderly normal subject.
|
30429645 |
2018 |
|
rs1800839
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Meta-analysis of PSEN1 gene suggests that the rs1800839 polymorphism has potential influence on AD among Caucasians.
|
28821390 |
2017 |
|
rs63751287
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The present work acknowledged the novel PSEN1 pathogenic mutation M84V and might contribute to the ongoing debate about the involvement of cerebellum in AD.
|
28532646 |
2017 |
|
rs1312532981
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two rare variants have been nominally associated with AD risk or protection (TREM2 p.R47H, MAF approximately 0.002, OR approximately 4 and APP p.A673T, MAF approximately 0.0005, OR approximately 0.2).
|
28002825 |
2016 |
|
rs63750001
|
|
|
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 |
|
rs866914724
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a L150P mutation in PSEN-1.
|
27345792 |
2016 |
|
rs906454643
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report a new mutation (p.Ile408Thr, c. 1223T>C) in the PSEN1 gene in one autosomal dominant Late Onset AD patient.
|
26549787 |
2016 |
|
rs63750730
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Several causative mutations were identified and confirmed by Sanger sequencing, including PSEN1 p.M233T responsible for Alzheimer's disease in a large Italian family, as well as SOD1 p.A4V and p.I113T in patients with amyotrophic lateral sclerosis.
|
25174650 |
2015 |
|
rs63750907
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings confirm the role of the PS1 Thr147Ile substitution in Alzheimer's disease and expand the clinical phenotype to include expressive aphasia and very early onset of dementia.
|
25812849 |
2015 |
|
rs63751024
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Several causative mutations were identified and confirmed by Sanger sequencing, including PSEN1 p.M233T responsible for Alzheimer's disease in a large Italian family, as well as SOD1 p.A4V and p.I113T in patients with amyotrophic lateral sclerosis.
|
25174650 |
2015 |
|
rs1057518919
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genetic analysis showed that the AD patients in the family harbored a T to G missense mutation at the position 314 in exon 4 of the PS1 gene, resulting in a change of F105C in amino acid sequence.
|
24737487 |
2014 |
|
rs63751106
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Furthermore, we show that preclinical carriers of the PSEN1 M139T mutation may overexpress Aβ1-42 suggesting that this particular mutation may cause AD by stimulating γ-secretase-mediated cleavage at amino acid 42 in the Aβ sequence.
|
22307680 |
2012 |
|
rs200576075
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Presenilin 2 mutation R71W in an Italian early-onset sporadic Alzheimer's disease case.
|
21544564 |
2011 |
|
rs779296437
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel presenilin 1 mutation, I202F occurring at a previously predicted pathogenic site causing autosomal dominant Alzheimer's disease.
|
21144619 |
2011 |
|
rs3025786
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The present work examined the possible modulation of the risk of AD by a PSEN1 polymorphism (dbSNP rs3025786) located in intron 7, which we found during a denaturing gradient gel electrophoresis mutation screening of the gene, and which was previously reported as 'suspected' in the public databases.
|
18957849 |
2008 |
|
rs41345849
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two novel presenilin 1 (PS1) mutations, V97L and A136G, were recently found to be involved in the early-onset of Alzheimer's disease in two Chinese families.
|
18706205 |
2008 |
|
rs63750852
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two novel presenilin 1 (PS1) mutations, V97L and A136G, were recently found to be involved in the early-onset of Alzheimer's disease in two Chinese families.
|
18706205 |
2008 |
|
rs165932
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Numerous studies have tested for associations between an intronic polymorphism (rs165932) of presenilin-1 (PS-1) gene and the risk of Alzheimer's disease (AD), but results have been conflicting.
|
17719017 |
2007 |
|
rs63750900
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The R269H mutation in presenilin-1 presenting as late-onset autosomal dominant Alzheimer's disease.
|
17188713 |
2007 |