|
rs63750215
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The most prevalent and best characterized fAD mutation in PSEN2 is N141I.
|
30359395 |
2018 |
|
rs63750215
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The study provides support for the potential pharmacogenomic identification of N141I PS2 FAD cases that might preferentially benefit from inhibition of COX-2 during the progression of clinical dementia.
|
16331303 |
2006 |
|
rs63750215
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Functional analysis of such cleavage defective PS2 carrying the FAD mutation Asn-141 --> Ile showed that its Abeta42 producing activity was strongly reduced compared with cleavage-competent FAD PS2.
|
10575009 |
1999 |
|
rs63750215
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The N141I missense mutation in presenilin (PS) 2 is tightly linked with a form of autosomal dominant familial Alzheimer's disease (AD) in the Volga German families.
|
9648880 |
1998 |
|
rs63750215
|
|
|
0.050 |
GeneticVariation |
BEFREE |
These results strongly suggest that the PS2 mutation (N141I) linked to FAD alters the metabolism of A beta/betaAPP to foster the production of the form of A beta that most readily deposits in amyloid plaques.
|
9050898 |
1997 |
|
rs63749884
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We reported a patient with early-onset FAD and the PSEN2 p.Met239Ile mutation, presenting with severe executive dysfunction and myoclonic tremor, associated with memory loss.
|
22531416 |
2012 |
|
rs63749884
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The presenilin 2 M239I mutation associated with Familial Alzheimer's Disease reduces Ca2+ release from intracellular stores.Neurobiol.Dis.15/2, 269-278].
|
15755689 |
2005 |
|
rs63749884
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The presenilin 2 M239I mutation associated with familial Alzheimer's disease reduces Ca2+ release from intracellular stores.
|
15006697 |
2004 |
|
rs63749884
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Variable expression of familial Alzheimer disease associated with presenilin 2 mutation M239I.
|
10822446 |
2000 |
|
rs1215971988
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two novel variants (APP: p.D244G, p.K687Q), 3 variants not previously associated with FAD (APP: p.T297M, p.D332G; PSEN1: p.R157S), and 7 previously reported pathogenic variants (APP: p.V717I; PSEN1: p.M139I, p.T147I, p.L173W, p.F177S, p.R269H; PSEN2: p.V139M) were identified.
|
30598257 |
2019 |
|
rs1482790603
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two novel variants (APP: p.D244G, p.K687Q), 3 variants not previously associated with FAD (APP: p.T297M, p.D332G; PSEN1: p.R157S), and 7 previously reported pathogenic variants (APP: p.V717I; PSEN1: p.M139I, p.T147I, p.L173W, p.F177S, p.R269H; PSEN2: p.V139M) were identified.
|
30598257 |
2019 |
|
rs202178897
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two novel variants (APP: p.D244G, p.K687Q), 3 variants not previously associated with FAD (APP: p.T297M, p.D332G; PSEN1: p.R157S), and 7 previously reported pathogenic variants (APP: p.V717I; PSEN1: p.M139I, p.T147I, p.L173W, p.F177S, p.R269H; PSEN2: p.V139M) were identified.
|
30598257 |
2019 |
|
rs140501902
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified in breast cancer cases two germline alterations, R62H and R71W, in presenilin-2 (PS-2), a gene involved in familial Alzheimer's disease (FAD).
|
16474849 |
2006 |
|
rs28936379
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Cognitive deficits in familial Alzheimer's disease associated with M239V mutation of presenilin 2.
|
16902278 |
2006 |
|
rs58973334
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified in breast cancer cases two germline alterations, R62H and R71W, in presenilin-2 (PS-2), a gene involved in familial Alzheimer's disease (FAD).
|
16474849 |
2006 |
|
rs28936380
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We here show that in human FAD fibroblasts another PS2 mutation (T122R) reduces both Ca2+ release and capacitative Ca2+ entry.
|
15755689 |
2005 |
|
rs778936527
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found the mutations, G384A, E280A in two FAD and H163R in one sporadic AD patient, and no N1411 or M239V mutation in PS-2 gene, and no mutation in exons 16 and 17 in amyloid precursor protein (APP) gene.
|
8945747 |
1996 |