|
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 |
|
rs63750929
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our results suggest that this novel PSEN1 Gly111Val mutation may play a pathogenic role in AD.
|
31235344 |
2020 |
|
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 |
|
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WITHDRAWN: Mental Disorders in Young Adults from Families with the Presenilin-1 Gene Mutation E280A in the Preclinical Stage of Alzheimer's Disease.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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs63749805
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Subsequent investigation identified a PSEN1 P117L mutation and the diagnosis of autosomal dominant AD was made.
|
30567237 |
2018 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs63750231
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A Mutation in DAOA Modifies the Age of Onset in PSEN1 E280A Alzheimer's Disease.
|
26949549 |
2016 |
|
rs63750231
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We assessed underlying electrophysiological modulations in patients with mild cognitive impairment (MCI), patients in the MCI stages of familial AD carrying the mutation E280A of the presenilin-1 gene (MCI-FAD), and healthy controls.
|
27372640 |
2016 |
|
rs63750231
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Diagnostic accuracy of CERAD total score in a Colombian cohort with mild cognitive impairment and Alzheimer's disease affected by E280A mutation on presenilin-1 gene.
|
26478578 |
2016 |
|
rs63750231
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This is the first study demonstrating that the APOE*E2 allele modifies the natural history of AD typified by the age of onset in E280A mutation carriers.
|
26619808 |
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 |