|
rs63750264
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Japanese siblings with missense mutation (717Val --> Ile) in amyloid precursor protein of early-onset Alzheimer's disease.
|
8649577 |
1996 |
|
rs63750231
|
|
|
0.050 |
GeneticVariation |
BEFREE |
An exonic missense mutation in the G72 (DAOA) gene (rs2391191, P = 1.94 × 10(-4), P FDR = 9.34 × 10(-3)) was found to modify AOO in PSEN1 E280A AD.
|
26949549 |
2016 |
|
rs63750231
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Origin of the PSEN1 E280A mutation causing early-onset Alzheimer's disease.
|
24239249 |
2014 |
|
rs63750231
|
|
|
0.050 |
GeneticVariation |
BEFREE |
We studied 75 subjects from the largest multigenerational pedigree in the world (∼5000 people) that segregates a unique form of early-onset Alzheimer's disease (EOAD) caused by a fully penetrant mutation in the Presenilin-1 gene (PSEN1 p.Glu280Ala [E280 A]).
|
24239247 |
2014 |
|
rs63750231
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Pre-dementia clinical stages in presenilin 1 E280A familial early-onset Alzheimer's disease: a retrospective cohort study.
|
21296022 |
2011 |
|
rs63750215
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The families from Fulda, Germany, and the American Volga German families with EOAD share the same N141I PSEN2 mutation on an identical haplotypic background.
|
20457965 |
2010 |
|
rs63750215
|
|
|
0.050 |
GeneticVariation |
BEFREE |
We herein report the case of a German EOAD patient with a family history of dementia and a missense mutation at codon 141 (N141I) of the PSEN2 gene.
|
19073399 |
2008 |
|
rs63750215
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The Asn141Ile mutation of the presenilin 2 gene is responsible for familial early-onset Alzheimer disease found in Volga-German kindreds.
|
10404731 |
1999 |
|
rs63750215
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Both, the N141I mutation and the V148I mutation described here are located within the predicted TM2 domain and both were found in late-onset AD kindreds, whereas the mutation within the predicted TM5 domain was found in an early-onset AD pedigree.
|
10732806 |
1998 |
|
rs63750215
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Moreover, the AD- associated PS-2 missense mutation (N141I) more efficiently induced cell death compared to wild-type PS-2 despite lower mutant protein accumulation.
|
9334350 |
1997 |
|
rs63750231
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation.
|
9052708 |
1997 |
|
rs17125721
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The E318G variant was detected with similar frequencies in the cases with eoAD and FTLD and the healthy controls, therefore, showing no association between E318G and eoAD.
|
21959359 |
2013 |
|
rs17125721
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Early-onset Alzheimer disease in an Italian family with presenilin-1 double mutation E318G and G394V.
|
18525293 |
2008 |
|
rs17125721
|
|
|
0.040 |
GeneticVariation |
BEFREE |
In addition, the Glu318Gly noncausative polymorphism in exon 9 was detected in two unrelated sporadic EOAD cases.
|
15119739 |
2004 |
|
rs17125721
|
|
|
0.040 |
GeneticVariation |
BEFREE |
This observation is consistent with our previous finding that PSEN1 E318G is not causally related to AD.
|
10896268 |
2000 |
|
rs63750929
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Identification of a novel PSEN1 Gly111Val missense mutation in a Chinese pedigree with early-onset Alzheimer's disease.
|
31235344 |
2020 |
|
rs63750929
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The Val391Gly variation widens the number of PSEN1 mutations responsible for early-onset Alzheimer's disease with extrapyramidal phenotype and would help to establish a functional map of presenilin 1 protein architecture.
|
28131463 |
2017 |
|
rs63750929
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Early-onset Alzheimer disease in an Italian family with presenilin-1 double mutation E318G and G394V.
|
18525293 |
2008 |
|
rs765670175
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We herein report the case of a German EOAD patient with a family history of dementia and a missense mutation at codon 141 (N141I) of the PSEN2 gene.
|
19073399 |
2008 |
|
rs765670175
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Both, the N141I mutation and the V148I mutation described here are located within the predicted TM2 domain and both were found in late-onset AD kindreds, whereas the mutation within the predicted TM5 domain was found in an early-onset AD pedigree.
|
10732806 |
1998 |
|
rs765670175
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Moreover, the AD- associated PS-2 missense mutation (N141I) more efficiently induced cell death compared to wild-type PS-2 despite lower mutant protein accumulation.
|
9334350 |
1997 |
|
rs63750522
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Novel PSEN1 p.Gly417Ala mutation in a Korean patient with early-onset Alzheimer's disease with parkinsonism.
|
30180983 |
2018 |
|
rs63749835
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Identification of a novel PSEN1 mutation (Leu232Pro) in a Korean patient with early-onset Alzheimer's disease and a family history of dementia.
|
28532645 |
2017 |
|
rs63750730
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Novel presenilin 1 mutation (p.I83T) in Tunisian family with early-onset Alzheimer's disease.
|
26145164 |
2015 |
|
rs75932628
|
|
|
0.020 |
GeneticVariation |
BEFREE |
R47H TREM2 variant increases risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia.
|
25160042 |
2014 |