rs63750231
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We clinically characterized and whole-exome genotyped 71 individuals with AD from the Paisa genetic isolate, segregating the (PSEN1) E280A dominant fully penetrant mutation, and analyzed the potential recessive effects of ~ 50,000 common functional genomic variants to the ADAOO.
|
31664702 |
2020 |
rs63750082
|
|
|
0.030 |
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 |
rs63750231
|
|
|
0.100 |
GeneticVariation |
BEFREE |
WITHDRAWN: Mental Disorders in Young Adults from Families with the Presenilin-1 Gene Mutation E280A in the Preclinical Stage of Alzheimer's Disease.
|
31381509 |
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 |
rs63750929
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our results suggest that this novel PSEN1 Gly111Val mutation may play a pathogenic role in AD.
|
31235344 |
2020 |
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 |
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 |
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 |
rs63750231
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The most common mutation in the PSEN1 gene is the E280A mutation. iPSCs are an optimal choice for modeling AD, as they can be differentiated in vitro into neural cells.
|
30769329 |
2019 |
rs63750083
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Sanger sequencing confirmed homozygosity for the A431E variant in PSEN1, which is a known pathogenic variant causing autosomal dominant Alzheimer's dementia.
|
30716424 |
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 |
rs63749805
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Subsequent investigation identified a PSEN1 P117L mutation and the diagnosis of autosomal dominant AD was made.
|
30567237 |
2018 |
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 |
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 |
rs17125721
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Our follow-up of this family may help elucidate E318G's role in AD and globally points to a null effect of this variant.
|
30381075 |
2019 |
rs17125721
|
|
|
0.090 |
GeneticVariation |
BEFREE |
A meta-analysis was performed to assess PSEN1 gene polymorphisms (rs1800839 and rs17125721) in Alzheimer's disease (AD) risk.
|
28821390 |
2017 |
rs1800839
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Meta-analysis of PSEN1 gene suggests that the rs1800839 polymorphism has potential influence on AD among Caucasians.
|
28821390 |
2017 |
rs63750231
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Precuneus Failures in Subjects of the PSEN1 E280A Family at Risk of Developing Alzheimer's Disease Detected Using Quantitative Electroencephalography.
|
28550254 |
2017 |
rs63750306
|
|
|
0.100 |
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 |
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 |
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 |
rs63750306
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The a posteriori diagnosis of AD is supported by the evidence of the causative genetic mutation PSEN1-Met146Leu as well as neuropathological AD features in her genealogically proven descendants.
|
27730373 |
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 |
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 |