|
rs63750066
|
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
BEFREE |
According to the literature, the APP Ala713Thr mutation is associated with Alzheimer's disease and cerebral amyloid angiopathy.
|
28304299 |
2017 |
|
rs63750066
|
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
BEFREE |
Our findings, also supported by the β-amyloid plasma assay, confirm (1) the pathogenic role of the APP A713T mutation, (2) the specific phenotype (AD with cerebrovascular lesions) associated with this mutation, and (3) the large span of age at onset, not influenced by APOE, TOMM40, and TREM2 genes.
|
25948718 |
2015 |
|
rs63750066
|
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia: recommendations for family physicians.
|
24829003 |
2014 |
|
rs63750066
|
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
EFNS guidelines for the diagnosis and management of Alzheimer's disease.
|
20831773 |
2010 |
|
rs63750066
|
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
Preventing Alzheimer's disease and cognitive decline.
|
21500874 |
2010 |
|
rs63750066
|
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
Novel amyloid precursor protein gene missense mutation (D678N) in probable familial Alzheimer's disease.
|
15201367 |
2004 |
|
rs63750066
|
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
This indicates that the A713T mutation of the APP gene, lying at the gamma-secretase cleavage site, can be responsible for AD with symptomatic cerebral amyloid angiopathy.
|
15365148 |
2004 |
|
rs63750066
|
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
BEFREE |
This indicates that the A713T mutation of the APP gene, lying at the gamma-secretase cleavage site, can be responsible for AD with symptomatic cerebral amyloid angiopathy.
|
15365148 |
2004 |
|
rs63750066
|
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala).
|
12034808 |
2002 |
|
rs63750066
|
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
In vitro studies of amyloid beta-protein fibril assembly and toxicity provide clues to the aetiology of Flemish variant (Ala692-->Gly) Alzheimer's disease.
|
11311152 |
2001 |
|
rs63750066
|
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation.
|
11528419 |
2001 |
|
rs63750066
|
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
Human aspartic protease memapsin 2 cleaves the beta-secretase site of beta-amyloid precursor protein.
|
10677483 |
2000 |
|
rs63750066
|
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene.
|
10867787 |
2000 |
|
rs63750066
|
|
Alzheimer's Disease
|
|
0.730 |
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 |
|
rs63750066
|
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
Identification of a novel aspartic protease (Asp 2) as beta-secretase.
|
10656250 |
1999 |
|
rs63750066
|
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala-->Gly mutation.
|
9754958 |
1998 |
|
rs63750066
|
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43).
|
9328472 |
1997 |
|
rs63750066
|
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
A mutation in codon 717 of the amyloid precursor protein gene in an Australian family with Alzheimer's disease.
|
8577393 |
1995 |
|
rs63750066
|
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
Characterization of amyloid fibril beta-peptide in familial Alzheimer's disease with APP717 mutations.
|
8267572 |
1993 |
|
rs63750066
|
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production.
|
1465129 |
1992 |
|
rs63750066
|
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene.
|
1303239 |
1992 |
|
rs63750066
|
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
More missense in amyloid gene.
|
1303275 |
1992 |
|
rs63750066
|
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid.
|
1302033 |
1992 |
|
rs63750066
|
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region.
|
1415269 |
1992 |
|
rs63750066
|
|
Alzheimer's Disease
|
|
0.730 |
GeneticVariation
|
UNIPROT |
Mis-sense mutation Val----Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease.
|
1678058 |
1991 |