rs63750231
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Homozygosity of the autosomal dominant Alzheimer disease presenilin 1 E280A mutation.
|
25471389 |
2015 |
rs63750450
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
APP metabolism regulates tau proteostasis in human cerebral cortex neurons.
|
25921538 |
2015 |
rs63750526
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutation analysis of patients with neurodegenerative disorders using NeuroX array.
|
25174650 |
2015 |
rs661
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Presenilin-1 knockin mice reveal loss-of-function mechanism for familial Alzheimer's disease.
|
25741723 |
2015 |
rs63750053
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
U1 small nuclear ribonucleoproteins (snRNPs) aggregate in Alzheimer's disease due to autosomal dominant genetic mutations and trisomy 21.
|
24773620 |
2014 |
rs63750082
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Disease-related mutations among Caribbean Hispanics with familial dementia.
|
25333068 |
2014 |
rs63750231
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
The E280A presenilin mutation reduces voltage-gated sodium channel levels in neuronal cells.
|
24217025 |
2014 |
rs63750526
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Lysosomal alkalization and dysfunction in human fibroblasts with the Alzheimer's disease-linked presenilin 1 A246E mutation can be reversed with cAMP.
|
24418614 |
2014 |
rs661
|
|
A |
0.700 |
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
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Familial Alzheimer's disease coding mutations reduce Presenilin-1 expression in a novel genomic locus reporter model.
|
24011544 |
2014 |
rs63750082
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Frequency and clinicopathological characteristics of presenilin 1 Gly206Ala mutation in Puerto Rican Hispanics with dementia.
|
23114514 |
2013 |
rs661
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production.
|
23843529 |
2013 |
rs63750082
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.
|
22312439 |
2012 |
rs63750231
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Phenotypic profile of early-onset familial Alzheimer's disease caused by presenilin-1 E280A mutation.
|
22766738 |
2012 |
rs63750231
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Familial Alzheimer disease presenilin-1 mutations alter the active site conformation of γ-secretase.
|
22461631 |
2012 |
rs661
|
|
A |
0.700 |
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 |
rs63750083
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Alzheimer disease-related presenilin-1 variants exert distinct effects on monoamine oxidase-A activity in vitro.
|
21373759 |
2011 |
rs661
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Presenilin/γ-secretase regulates neurexin processing at synapses.
|
21559374 |
2011 |
rs1566650594
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.
|
20634584 |
2010 |
rs63750083
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.
|
20634584 |
2010 |
rs63750083
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Distinct cerebrospinal fluid amyloid beta peptide signatures in sporadic and PSEN1 A431E-associated familial Alzheimer's disease.
|
20145736 |
2010 |
rs661
|
|
A |
0.700 |
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 |
rs63750082
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Prominent neuroleptic sensitivity in a case of early-onset Alzheimer disease due to presenilin-1 G206A mutation.
|
18797263 |
2008 |
rs63751278
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1.
|
18580586 |
2008 |
rs63750053
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism.
|
17197420 |
2007 |