|
rs63750264
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease.
|
1925564 |
1991 |
|
rs63750264
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Comparison of neurodegenerative pathology in transgenic mice overexpressing V717F beta-amyloid precursor protein and Alzheimer's disease.
|
8795633 |
1996 |
|
rs63750264
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
EFNS guidelines for the diagnosis and management of Alzheimer's disease.
|
20831773 |
2010 |
|
rs63750264
|
|
|
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
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production.
|
1465129 |
1992 |
|
rs63750264
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Novel mutations and repeated findings of mutations in familial Alzheimer disease.
|
15776278 |
2005 |
|
rs63750264
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
BEFREE |
To investigate the regulatory genes responsible for the neuropathology in AD, we performed microarray analysis with APP(V717I)-CT100 transgenic mice, an animal model of AD, and isolated the S100a9 gene, which encodes an inflammation-associated calcium binding protein.
|
20098622 |
2010 |
|
rs63750264
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We report the effects of amyloid precursor protein (APP) fragment 714-723 (APP(714-723); peptide P1) and its V717F and V717G mutants (peptides P2 and P3, respectively) on G-protein activity ([35S]GTPgammaS binding) in membranes from postmortem human control and Alzheimer's disease (AD) brains.
|
15614786 |
2005 |
|
rs63750264
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Levels of both APP-BP1 and Rab5 are elevated in early endosomes in cortical embryonic neurons expressing APP(V642I) or APP-BP1, in cultured skin fibroblast cells from Down syndrome subjects, and in postmortem hippocampal tissue of individuals with AD.
|
17611268 |
2007 |
|
rs63750264
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia: recommendations for family physicians.
|
24829003 |
2014 |
|
rs63750264
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Human aspartic protease memapsin 2 cleaves the beta-secretase site of beta-amyloid precursor protein.
|
10677483 |
2000 |
|
rs63750264
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene.
|
10867787 |
2000 |
|
rs63750264
|
|
|
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
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Transgenic mice over-expressing a mutated form of the human amyloid precursor protein (APP, 695 isoform) bearing a mutation associated with Alzheimer's disease (V642I, so-called London mutation, hereafter APPLd2) and wild-type controls were studied at age periods (3 and 10 months) prior to the overt development of neuritic amyloid plaques.
|
15380017 |
2004 |
|
rs63750264
|
|
|
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
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Novel mutations and repeated findings of mutations in familial Alzheimer disease.
|
15776278 |
2005 |
|
rs63750264
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease.
|
1925564 |
1991 |
|
rs63750264
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We recently demonstrated that overexpression of ADAM10 in mice transgenic for human AbetaPP (ADAM10 x APP[V717I]) alleviated functional deficits related to Alzheimer's disease.
|
19221420 |
2009 |
|
rs63750264
|
|
|
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
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Nonfibrillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for N-truncated A beta(42) in Alzheimer's disease.
|
11063718 |
2000 |
|
rs63750264
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region.
|
1415269 |
1992 |