rs1566630910
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1566638673
|
|
CTTA |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1566656702
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1566657804
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs63750009
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs63750219
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs63750391
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Here we describe a new substitution of methionine 146 for isoleucine that co-segregates with Alzheimer's disease with age of the onset in the early forties.
|
9007311 |
1996 |
rs63750590
|
|
|
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 |
rs63750231
|
|
|
0.100 |
GeneticVariation |
BEFREE |
E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles.
|
9298817 |
1997 |
rs765670175
|
|
|
0.060 |
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 |
rs765670175
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Increased apoptosis arising from increased expression of the Alzheimer's disease-associated presenilin-2 mutation (N141I).
|
9334350 |
1997 |
rs63750353
|
|
|
0.010 |
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 |
rs17125721
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease.
|
9851443 |
1998 |
rs63749805
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The presenilin-1 (PS1) gene mutation (Pro117Leu), recently identified in a Polish family is characterized by the earliest reported onset (from 24-31 years) of Alzheimer disease (AD) and a very short duration of disease (4-6 years).
|
9737546 |
1998 |
rs63751163
|
|
|
0.020 |
GeneticVariation |
BEFREE |
PS1 L250S familial Alzheimer's disease is an early onset form of Alzheimer's disease with clinical features similar to other reported familial Alzheimer's disease pedigrees, except that seizures were absent.
|
9436726 |
1998 |
rs63749885
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The large range in age at onset in this family with a uniform genetic basis for the disease, a His163Tyr mutation in PS1, supports the existence of other unknown genetic or environmental factors of importance for the expression of the AD phenotype.
|
9605727 |
1998 |
rs63750050
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Identification of a novel mutation (Leu282Arg) of the human presenilin 1 gene in Alzheimer's disease.
|
9502232 |
1998 |
rs765670175
|
|
|
0.060 |
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 |
rs63750004
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Both families segregate a different missense mutation in PSEN1 located in different parts of the protein: I143T in family AD/A and G384A in family AD/B.
|
10448055 |
1999 |
rs63750004
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Presenilin-1 (PSEN1) mutations I143T and G384A give rise to severe early onset Alzheimers's disease in two extensively studied Belgian families, AD/A and AD/B.
|
10548420 |
1999 |
rs63750646
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Both families segregate a different missense mutation in PSEN1 located in different parts of the protein: I143T in family AD/A and G384A in family AD/B.
|
10448055 |
1999 |
rs63750646
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Presenilin-1 (PSEN1) mutations I143T and G384A give rise to severe early onset Alzheimers's disease in two extensively studied Belgian families, AD/A and AD/B.
|
10548420 |
1999 |
rs17125721
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Is the presenilin-1 E318G missense mutation a risk factor for Alzheimer's disease?
|
10643802 |
2000 |
rs63750526
|
|
|
0.070 |
GeneticVariation |
BEFREE |
To test whether oxidative stress is an inherent property of AD tissues, the ability of cultured fibroblasts bearing the AD Presenilin-1 246 Ala-->Glu mutation to handle reactive oxygen species (ROS) was compared to controls.
|
11068175 |
2000 |
rs63751163
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Alzheimer's disease presenilin-1 exon 9 deletion and L250S mutations sensitize SH-SY5Y neuroblastoma cells to hyperosmotic stress-induced apoptosis.
|
10658639 |
2000 |