rs63750231
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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.
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31664702 |
2020 |
rs63750231
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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.
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30769329 |
2019 |
rs63750231
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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WITHDRAWN: Mental Disorders in Young Adults from Families with the Presenilin-1 Gene Mutation E280A in the Preclinical Stage of Alzheimer's Disease.
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31381509 |
2019 |
rs63750231
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0.100 |
GeneticVariation |
BEFREE |
Precuneus Failures in Subjects of the PSEN1 E280A Family at Risk of Developing Alzheimer's Disease Detected Using Quantitative Electroencephalography.
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28550254 |
2017 |
rs63750306
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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.
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28532646 |
2017 |
rs63750231
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0.100 |
GeneticVariation |
BEFREE |
A Mutation in DAOA Modifies the Age of Onset in PSEN1 E280A Alzheimer's Disease.
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26949549 |
2016 |
rs63750231
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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.
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27372640 |
2016 |
rs63750231
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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.
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26478578 |
2016 |
rs63750231
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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.
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26619808 |
2016 |
rs63750306
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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.
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27730373 |
2016 |
rs63750231
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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).
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25580592 |
2015 |
rs63750231
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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.
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25352452 |
2015 |
rs63750231
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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.
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24816373 |
2014 |
rs63750231
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0.100 |
GeneticVariation |
BEFREE |
Pooling/bootstrap-based GWAS (pbGWAS) identifies new loci modifying the age of onset in PSEN1 p.Glu280Ala Alzheimer's disease.
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22710270 |
2013 |
rs63750231
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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.
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23137948 |
2012 |
rs63750231
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0.100 |
GeneticVariation |
BEFREE |
Florbetapir PET analysis of amyloid-β deposition in the presenilin 1 E280A autosomal dominant Alzheimer's disease kindred: a cross-sectional study.
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23137949 |
2012 |
rs63750231
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0.100 |
GeneticVariation |
BEFREE |
The findings support the notion that a deficit in the coordination mechanism of the central executive may be a pre-clinical marker for the early detection of AD due to the E280A presenilin-1 gene mutation.
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22133015 |
2012 |
rs63750306
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0.100 |
GeneticVariation |
BEFREE |
In this study, we investigated the effects of long-term (9-month) treatment with pioglitazone (PIO; 20 mg/kg/d) in two animal models of Alzheimer's disease (AD)-related neural dysfunction and pathology: the PS1-KI(M146V) (human presenilin-1 (M146V) knock-in mouse) and 3xTg-AD (triple transgenic mouse carrying AD-linked mutations) mice.
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23254291 |
2012 |
rs63750231
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0.100 |
GeneticVariation |
BEFREE |
Deposition of hyperphosphorylated tau in cerebellum of PS1 E280A Alzheimer's disease.
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21159009 |
2011 |
rs63750231
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0.100 |
GeneticVariation |
BEFREE |
We used a neuropsychological battery and a short-term memory binding task to assess patients with sporadic Alzheimer's disease (Experiment 1), familial Alzheimer's disease (Experiment 2) due to the mutation E280A of the Presenilin-1 gene and asymptomatic carriers of the mutation.
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21435348 |
2011 |
rs63750231
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0.100 |
GeneticVariation |
BEFREE |
To identify individuals at risk for Alzheimer disease (AD) we used high-density ERPs to examine brain physiology in young presymptomatic individuals (average age 34.2 years) who carry the E280A mutation in the presenilin-1 (PSEN1) gene and will go on to develop AD around the age of 45.
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21775732 |
2011 |
rs63750306
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0.100 |
GeneticVariation |
BEFREE |
In contrast, all PSEN1 mutations that have been used to accelerate pathological changes in AD models strongly attenuated the Aβ42-lowering activity of GSMs with two exceptions (M146L, A246E).
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21091478 |
2011 |
rs63750231
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0.100 |
GeneticVariation |
BEFREE |
ERP generator anomalies in presymptomatic carriers of the Alzheimer's disease E280A PS-1 mutation.
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19650138 |
2010 |
rs63750306
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0.100 |
GeneticVariation |
BEFREE |
The impact of celastrol on brain Abeta accumulation was tested in a transgenic mouse model of AD overexpressing the human APP695sw mutation and the presenilin-1 mutation M146L (Tg PS1/APPsw) by immunostaining and ELISAs.
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20211007 |
2010 |
rs63750306
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0.100 |
GeneticVariation |
BEFREE |
To test the hypothesis that calcium-related mechanisms, such as changes in calcium buffering, are associated with alterations in LTP and memory, we utilized in vitro experimental paradigms of LTP in hippocampal slices obtained from the PS1-M146V transgenic mouse model of Alzheimer's disease (AD).
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20399254 |
2010 |