|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid.
|
1302033 |
1992 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene.
|
1303239 |
1992 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
More missense in amyloid gene.
|
1303275 |
1992 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region.
|
1415269 |
1992 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production.
|
1465129 |
1992 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease.
|
1671712 |
1991 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mis-sense mutation Val----Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease.
|
1678058 |
1991 |
|
rs63750264
|
|
Alzheimer's Disease
|
A |
0.900 |
CausalMutation
|
CLINVAR |
A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease.
|
1925564 |
1991 |
|
rs63750264
|
|
Alzheimer's Disease
|
T |
0.900 |
CausalMutation
|
CLINVAR |
A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease.
|
1925564 |
1991 |
|
rs63750264
|
|
Alzheimer's Disease
|
A |
0.900 |
CausalMutation
|
CLINVAR |
APP717 missense mutation affects the ratio of amyloid beta protein species (A beta 1-42/43 and a beta 1-40) in familial Alzheimer's disease brain.
|
7806491 |
1994 |
|
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
|
UNIPROT |
Characterization of amyloid fibril beta-peptide in familial Alzheimer's disease with APP717 mutations.
|
8267572 |
1993 |
|
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
|
UNIPROT |
A mutation in codon 717 of the amyloid precursor protein gene in an Australian family with Alzheimer's disease.
|
8577393 |
1995 |
|
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 |
|
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 |
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 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43).
|
9328472 |
1997 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala-->Gly mutation.
|
9754958 |
1998 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Identification of a novel aspartic protease (Asp 2) as beta-secretase.
|
10656250 |
1999 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Human aspartic protease memapsin 2 cleaves the beta-secretase site of beta-amyloid precursor protein.
|
10677483 |
2000 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
BEFREE |
To determine the effect of apoE on Abeta deposition and AD pathology, we compared APP(V717F) transgenic (TG) mice expressing mouse, human, or no apoE (apoE(-/-)).
|
10694577 |
2000 |
|
rs63750264
|
|
Alzheimer's Disease
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene.
|
10867787 |
2000 |