|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Screening of the mis-sense mutation producing the 717Val-->Ile substitution in the amyloid precursor protein in Japanese familial and sporadic Alzheimer's disease.
|
8410047 |
1993 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
A second member of the original family with the valine to isoleucine substitution at codon 717 of the amyloid precursor protein died after the clinical diagnosis of Alzheimer's disease had been made in life.
|
8084541 |
1994 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
We present the clinical features and limited neuropathology of AD in these families with the APP 717 Val-->Ile mutation.
|
8247223 |
1994 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
No founder effect in three novel Alzheimer's disease families with APP 717 Val-->Ile mutation. Clerget-darpoux. French Alzheimer's Disease Study Group.
|
8863158 |
1996 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
We conclude that this familial AD may originate from the missense mutation 717Val --> Ile in the amyloid precursor protein gene and that the clinical picture is typical of AD, except for normal-pressure hydrocephalus and psychiatric phenomena.
|
8649577 |
1996 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
Comparison of neurodegenerative pathology in transgenic mice overexpressing V717F beta-amyloid precursor protein and Alzheimer's disease.
|
8795633 |
1996 |
|
rs63750391
|
|
Alzheimer's Disease
|
|
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 |
|
rs778936527
|
|
Alzheimer's Disease
|
|
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 |
|
rs63750590
|
|
Alzheimer's Disease
|
|
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 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
The PDAPP transgenic mouse overexpresses human amyloid precursor protein V717F (PDAPP minigene) and develops age-related cerebral amyloid-beta protein (Abeta) deposits similar to senile plaques in Alzheimer's disease.
|
9278541 |
1997 |
|
rs63750231
|
|
Alzheimer's Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles.
|
9298817 |
1997 |
|
rs63750215
|
|
Alzheimer's Disease
|
|
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 |
|
rs63750215
|
|
Alzheimer's Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Increased apoptosis arising from increased expression of the Alzheimer's disease-associated presenilin-2 mutation (N141I).
|
9334350 |
1997 |
|
rs765670175
|
|
Alzheimer's Disease
|
|
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
|
|
Alzheimer's Disease
|
|
0.060 |
GeneticVariation
|
BEFREE |
Increased apoptosis arising from increased expression of the Alzheimer's disease-associated presenilin-2 mutation (N141I).
|
9334350 |
1997 |
|
rs1223904774
|
|
Alzheimer's Disease
|
|
0.060 |
GeneticVariation
|
BEFREE |
beta-Adrenoceptor- and forskolin-stimulated adenylyl cyclase activities were determined in primary skin fibroblasts established from patients with sporadic Alzheimer's disease (AD) and from individuals with familial APP KM670/671NL, PS1 M146V and PS1 H163Y mutations.
|
9223097 |
1997 |
|
rs63750353
|
|
Alzheimer's Disease
|
|
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 |
|
rs63750215
|
|
Alzheimer's Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Amyloid angiopathy in a Volga German family with Alzheimer's disease and a presenilin-2 mutation (N141I).
|
9450781 |
1998 |
|
rs63750215
|
|
Alzheimer's Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Alzheimer's disease-linked mutation of presenilin 2 (N141I-PS2) drastically lowers APPalpha secretion: control by the proteasome.
|
9813158 |
1998 |
|
rs572842823
|
|
Alzheimer's Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The mutant APP(K670N,M671L) transgenic line, Tg2576, shows markedly elevated amyloid beta-protein (A beta) levels at an early age and, by 9-12 months, develops extracellular AD-type A beta deposits in the cortex and hippocampus.
|
9427614 |
1998 |
|
rs17125721
|
|
Alzheimer's Disease
|
|
0.090 |
GeneticVariation
|
BEFREE |
The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease.
|
9851443 |
1998 |
|
rs371425292
|
|
Alzheimer's Disease
|
|
0.080 |
GeneticVariation
|
BEFREE |
The mutant APP(K670N,M671L) transgenic line, Tg2576, shows markedly elevated amyloid beta-protein (A beta) levels at an early age and, by 9-12 months, develops extracellular AD-type A beta deposits in the cortex and hippocampus.
|
9427614 |
1998 |
|
rs747760223
|
|
Alzheimer's Disease
|
|
0.060 |
GeneticVariation
|
BEFREE |
The LRP C766T polymorphism is protective against Alzheimer's disease, perhaps through alteration of LRP expression.
|
9832203 |
1998 |
|
rs1035071612
|
|
Alzheimer's Disease
|
|
0.060 |
GeneticVariation
|
BEFREE |
The LRP C766T polymorphism is protective against Alzheimer's disease, perhaps through alteration of LRP expression.
|
9832203 |
1998 |
|
rs63750570
|
|
Alzheimer's Disease
|
|
0.040 |
GeneticVariation
|
BEFREE |
The conclusion is that the type and distribution of tau deposits in HFTD1 and HFTD2, the physical structure of filaments, and tau isoform composition in HFTD1 differ from Alzheimer's disease and an FTDP-17 family with a V337M mutation in the tau gene.
|
9811325 |
1998 |