|
rs63750215
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A previous genome scan for modifiers of AAO among families affected by early-onset AD caused by the PSEN2 N141I variant identified 2 loci with significant evidence for linkage: 1q23.3 and 17p13.2.
|
29045054 |
2018 |
|
rs63750215
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The best studied N141I mutation produces an Alzheimer's disease phenotype with a wide range of onset ages overlapping both early and late onset Alzheimer's disease, often associated with seizures, high penetrance and typical Alzheimer's disease neuropathology.
|
20375137 |
2010 |
|
rs63750215
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This raises the possibility that the original patient with Alzheimer disease (Auguste D.), who had EOAD and lived in this same region of Germany, may also have had the PSEN2 N141I mutation.
|
20457965 |
2010 |
|
rs63750215
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To address the potential impact of presenilin mutations on the prostaglandin metabolism in a neurodegenerative model of glutamatergic excitotoxicity, we injected kainic acid intraperitoneally (30mg/kg body weight) into mice over-expressing the human N141I mutation of presenilin-2, which is known to cause an early-onset form of Alzheimer's disease.
|
19560505 |
2009 |
|
rs63750215
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This study demonstrates for the first time that COX-2 may be a downstream effector of mutant N141I PS2-mediated apoptotic cell death and that inhibition of COX-2 may neuroprotect in AD through modulation of a GSK-3beta-beta-catenin-mediated response.
|
16331303 |
2006 |
|
rs63750215
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The aim of this study was to produce doubly transgenic mice expressing the regulatable tet promoter-controlled transactivator (tTA) and human mutant presenilin 2 (N141I, hPS2m) genes in order to examine the AD-related phenotypes at the basal and inducible levels.
|
16775391 |
2006 |
|
rs63750215
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Twenty-five familial AD cases with 9 known PSEN 1 mutations and 14 familial AD cases with a single PSEN 2 mutation (N141I) were examined for LBP using alpha-synuclein immunohistochemistry and sampling of multiple brainstem and cortical regions.
|
16533963 |
2006 |
|
rs63750215
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Differentially expressed genes in transgenic mice carrying human mutant presenilin-2 (N141I): correlation of selenoprotein M with Alzheimer's disease.
|
16258850 |
2005 |
|
rs63750215
|
|
|
0.100 |
GeneticVariation |
BEFREE |
BrdU labeling was decreased in cells expressing presenilin-1 (PS1), presenilin-2 (PS2), an Alzheimer's disease-associated missense mutation PS2(N141I), and the carboxyl-terminally deleted PS2 construct PS2(166aa), compared with mock and neurofilament-light (NF-L) transfected cells.
|
10393846 |
1999 |
|
rs63750215
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Alzheimer's disease-linked mutation of presenilin 2 (N141I-PS2) drastically lowers APPalpha secretion: control by the proteasome.
|
9813158 |
1998 |
|
rs63750215
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Amyloid angiopathy in a Volga German family with Alzheimer's disease and a presenilin-2 mutation (N141I).
|
9450781 |
1998 |
|
rs63750215
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Increased apoptosis arising from increased expression of the Alzheimer's disease-associated presenilin-2 mutation (N141I).
|
9334350 |
1997 |
|
rs63750215
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We describe a new mutation causing Alzheimer's disease (AD) in presenilin-1 (N135D) that is at the homologous site to the presenilin 2 mutation (N141I) in Volga German kindreds.
|
9225696 |
1997 |
|
rs533813519
|
|
|
0.030 |
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 |
|
rs533813519
|
|
|
0.030 |
GeneticVariation |
BEFREE |
These findings revealed that the p.His169Asn might be an important residue in PSEN2, which may alter the functions of PSEN2, suggesting its potential involvement with AD phenotype.
|
30104866 |
2018 |
|
rs533813519
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The novel mutation PSEN2 (p.His169Asn, c.505C>A) was identified in 1 patient with familial late-onset AD and in 1 sporadic FTD patient.
|
25323700 |
2015 |
|
rs63749884
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Autosomal dominant Alzheimer's disease with early frontal lobe involvement associated with the Met239Ile mutation of Presenilin 2 gene.
|
22531416 |
2012 |
|
rs63749884
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Moreover, the over-expression of familial AD-associated presenilin 2 mutations (PS2 M239I and PS2 T122R) resulted in reduced levels of all cystatin C forms (native and glycosylated) and of amyloid-β precursor protein (APP) metabolites within exosomes.
|
19773092 |
2011 |
|
rs63749884
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In a family with autopsy-confirmed Alzheimer disease, the authors found a mutation in the presenilin 2 (PS2) gene (PSEN2) that predicts a methionine-to-isoleucine change at PS2 residue 239 (M239I), at which a change to valine was known in another family.
|
10822446 |
2000 |
|
rs200169735
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report a novel PSEN1 mutation (c.1164C > G, p.F388L, mutation nomenclature according to National Center for Biotechnology Information Reference Sequence: NM_000021.3) occurring in a Chinese family with early-onset AD and cosegregating with affected family members.
|
27836335 |
2017 |
|
rs574125890
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Probable novel PSEN2 Val214Leu mutation in Alzheimer's disease supported by structural prediction.
|
24885952 |
2014 |
|
rs61761208
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Novel mutation in the PSEN2 gene (N141Y) associated with early-onset autosomal dominant Alzheimer's disease in a Chinese Han family.
|
24838186 |
2014 |
|
rs8383
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our analysis supports the hypothesis that the PSEN2 rs8383 polymorphism is associated with an enlarged risk of sporadic AD.
|
22580083 |
2012 |
|
rs140501902
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Presenilin 2 mutation R71W in an Italian early-onset sporadic Alzheimer's disease case.
|
21544564 |
2011 |
|
rs28936380
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Moreover, the over-expression of familial AD-associated presenilin 2 mutations (PS2 M239I and PS2 T122R) resulted in reduced levels of all cystatin C forms (native and glycosylated) and of amyloid-β precursor protein (APP) metabolites within exosomes.
|
19773092 |
2011 |