rs661
|
|
Alzheimer disease, familial, type 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
rs661
|
|
Alzheimer disease, familial, type 3
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production.
|
23843529 |
2013 |
rs661
|
|
Alzheimer disease, familial, type 3
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Loss of Aβ43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain.
|
27100200 |
2016 |
rs661
|
|
Alzheimer disease, familial, type 3
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Familial Alzheimer's disease coding mutations reduce Presenilin-1 expression in a novel genomic locus reporter model.
|
24011544 |
2014 |
rs661
|
|
Alzheimer disease, familial, type 3
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Presenilin-1 knockin mice reveal loss-of-function mechanism for familial Alzheimer's disease.
|
25741723 |
2015 |
rs661
|
|
Alzheimer disease, familial, type 3
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.
|
7596406 |
1995 |
rs661
|
|
Alzheimer disease, familial, type 3
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Human presenilin-1, but not familial Alzheimer's disease (FAD) mutants, facilitate Caenorhabditis elegans Notch signalling independently of proteolytic processing.
|
9680315 |
1997 |
rs661
|
|
Alzheimer disease, familial, type 3
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.
|
27930341 |
2017 |
rs661
|
|
Alzheimer disease, familial, type 3
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Dual roles of the transmembrane protein p23/TMP21 in the modulation of amyloid precursor protein metabolism.
|
17288597 |
2007 |
rs661
|
|
Alzheimer disease, familial, type 3
|
A |
0.800 |
CausalMutation
|
CLINVAR |
MOCA is an integrator of the neuronal death signals that are activated by familial Alzheimer's disease-related mutants of amyloid β precursor protein and presenilins.
|
22115042 |
2012 |
rs661
|
|
Alzheimer disease, familial, type 3
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees.
|
17553989 |
2007 |
rs661
|
|
Alzheimer disease, familial, type 3
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Mutations of the presenilin I gene in families with early-onset Alzheimer's disease.
|
8634712 |
1995 |
rs661
|
|
Alzheimer disease, familial, type 3
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Presenilin-1 C410Y Alzheimer disease plaques contain synaptic proteins.
|
17545141 |
2007 |
rs661
|
|
Alzheimer disease, familial, type 3
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Familial Alzheimer's Disease Mutations in Presenilin Generate Amyloidogenic Aβ Peptide Seeds.
|
27100199 |
2016 |
rs661
|
|
Alzheimer disease, familial, type 3
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease.
|
24880964 |
2014 |
rs661
|
|
Alzheimer disease, familial, type 3
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Presenilin/γ-secretase regulates neurexin processing at synapses.
|
21559374 |
2011 |
rs661
|
|
Alzheimer disease, familial, type 3
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Alzheimer's disease-associated presenilins 1 and 2: accelerated amyloid fibril formation of mutant 410 Cys-->Tyr and 141 Asn-->Ile peptides.
|
9196071 |
1997 |
rs661
|
|
Alzheimer disease, familial, type 3
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Presenilin 1 mutants impair the self-renewal and differentiation of adult murine subventricular zone-neuronal progenitors via cell-autonomous mechanisms involving notch signaling.
|
20484632 |
2010 |