|
rs17125721
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Analyses in additional case-control datasets will be required to understand fully the effect of E318G on Alzheimer's disease status.
|
27357204 |
2016 |
|
rs63750265
|
|
|
0.040 |
GeneticVariation |
BEFREE |
In order to generate a better model for Alzheimer's disease (AD), the APP21 rat line was used to generate double transgenic line that over-expressed Presenilin 1 (PS1) with L166P mutation in addition to APP transgene (APP + PS1 line).
|
27388605 |
2016 |
|
rs63749824
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Three of 12 noncarriers (25%) from the PSEN1 A79V family are potential phenocopies as they also developed AD dementia (median age at onset, 76.0 years).
|
27454811 |
2016 |
|
rs63749824
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We previously generated an induced pluripotent stem cell (iPSC) line from an AD patient carrying an A79V mutation in PSEN1 as an in vitro disease model.
|
27879212 |
2016 |
|
rs63749824
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying an A79V mutation in PSEN1.
|
27345973 |
2016 |
|
rs63750391
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a M146I mutation in PSEN1.
|
27345998 |
2016 |
|
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 |
|
rs63750231
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Cross-sectional measures of 18F-florbetapir positron emission tomography, 18F-fludeoxyglucose positron emission tomography, structural magnetic resonance imaging, cerebrospinal fluid (CSF), and plasma biomarkers of AD were assessed from 54 PSEN1 E280A kindred members (age range, 20-59 years).
|
25580592 |
2015 |
|
rs63750231
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The findings support the notion that a deficit in the mechanism responsible for coordinating the performance of two tasks may be a clinical marker for the early detection of AD due to the E280A presenilin-1 gene mutation.
|
25352452 |
2015 |
|
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 |
|
rs63750231
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We capitalized on longitudinal data collected from 1995 to 2010 from cognitively unimpaired presenilin 1 (PSEN1) E280A mutation carriers from the world's largest known early-onset autosomal dominant Alzheimer's disease kindred to identify a composite cognitive test with the greatest statistical power to track preclinical Alzheimer's disease decline and estimate the number of carriers age 30 years and older needed to detect a treatment effect in the Alzheimer's Prevention Initiative's (API) preclinical Alzheimer's disease treatment trial.
|
24816373 |
2014 |
|
rs63750526
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Neurons from mutant hiPSC lines express PSEN1-A246E mutations themselves and show AD-like biochemical features, that is, amyloidogenic processing of amyloid precursor protein (APP) indicated by an increase in β-amyloid (Aβ)42/Aβ40 ratio.
|
25027006 |
2014 |
|
rs63750526
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Lysosomal alkalization and dysfunction in human fibroblasts with the Alzheimer's disease-linked presenilin 1 A246E mutation can be reversed with cAMP.
|
24418614 |
2014 |
|
rs63750301
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Using a newly developed ELISA for Aβ modified at glutamate 3 with a pyroglutamate (pE3Aβ), brain pE3Aβ was characterized in human AD in an AD mouse model harboring double knock-in amyloid precursor protein (APP)-KM670/671NL and presenilin 1 (PS1)-P264L (APP/PS1-dKI) mutations, and in a second mouse model with transgenic overexpression of human APP695 with APP-KM670/671NL (Tg2576).
|
24158021 |
2014 |
|
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 |
|
rs63750231
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Pooling/bootstrap-based GWAS (pbGWAS) identifies new loci modifying the age of onset in PSEN1 p.Glu280Ala Alzheimer's disease.
|
22710270 |
2013 |
|
rs17125721
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers.
|
23990795 |
2013 |
|
rs63750265
|
|
|
0.040 |
GeneticVariation |
BEFREE |
To model amyloid deposition in AD, we generated a new mouse line based on the presence of two copies of the genomic region encoding human wild-type AβPP as well as a mutation (L166P) in the murine Psen1.
|
22874668 |
2013 |
|
rs63750082
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The frequency and clinical and pathological characteristics associated with the Gly206Ala presenilin 1 (PSEN1) mutation in Puerto Rican and non-Puerto Rican Hispanics were evaluated at the University of Pennsylvania's Alzheimer's Disease Center.
|
23114514 |
2013 |
|
rs63750231
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Brain imaging and fluid biomarker analysis in young adults at genetic risk for autosomal dominant Alzheimer's disease in the presenilin 1 E280A kindred: a case-control study.
|
23137948 |
2012 |