rs63750671
×
Entrez Id:
351
Gene Symbol:
APP
APP
Alzheimer's Disease
0.760
GeneticVariation
BEFREE
Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction.
27206484
2016
rs63750671
×
Entrez Id:
351
Gene Symbol:
APP
APP
Alzheimer's Disease
0.760
GeneticVariation
BEFREE
Studying more than 6000 amyloid plaques immunostained for total Aβ (Aβt), Aβ40 or Aβ42, we show here that Aβ40 FD could efficiently differentiate between (i) AD patients and aged-control individuals (P<0.001); (ii) sporadic and familial AD due to presenilin-1 or APP (A692G ) mutations (P<0.001); and (iii) three transgenic mouse models of different genotypes (P<0.001).
20015575
2011
rs63750671
×
Entrez Id:
351
Gene Symbol:
APP
APP
Alzheimer's Disease
0.760
GeneticVariation
UNIPROT
A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene.
15365148
2004
rs63750671
×
Entrez Id:
351
Gene Symbol:
APP
APP
Alzheimer's Disease
0.760
GeneticVariation
UNIPROT
Novel amyloid precursor protein gene missense mutation (D678N) in probable familial Alzheimer's disease.
15201367
2004
rs63750671
×
Entrez Id:
351
Gene Symbol:
APP
APP
Alzheimer's Disease
0.760
GeneticVariation
UNIPROT
An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala).
12034808
2002
rs63750671
×
Entrez Id:
351
Gene Symbol:
APP
APP
Alzheimer's Disease
0.760
GeneticVariation
BEFREE
While patients with the Dutch APP mutation (E693Q) have predominantly hemorrhagic strokes, Flemish APP (A692G ) patients develop both strokes and Alzheimer's disease (AD ).
12505425
2002
rs63750671
×
Entrez Id:
351
Gene Symbol:
APP
APP
Alzheimer's Disease
0.760
GeneticVariation
BEFREE
We earlier described a Flemish APP (A692G ) mutation causing a form of early-onset AD with a prominent cerebral amyloid angiopathy and unusually large senile plaque cores.
12163376
2002
rs63750671
×
Entrez Id:
351
Gene Symbol:
APP
APP
Alzheimer's Disease
0.760
GeneticVariation
BEFREE
This was unusually severe CAA reminiscent of the Flemish amyloid precursor protein (A692G ) mutation we reported previously, which causes Alzheimer's disease and/or cerebral haemorrhages.
11701593
2001
rs63750671
×
Entrez Id:
351
Gene Symbol:
APP
APP
Alzheimer's Disease
0.760
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
rs63750671
×
Entrez Id:
351
Gene Symbol:
APP
APP
Alzheimer's Disease
0.760
GeneticVariation
UNIPROT
The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation.
11528419
2001
rs63750671
×
Entrez Id:
351
Gene Symbol:
APP
APP
Alzheimer's Disease
0.760
GeneticVariation
UNIPROT
Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene.
10867787
2000
rs63750671
×
Entrez Id:
351
Gene Symbol:
APP
APP
Alzheimer's Disease
0.760
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
rs63750671
×
Entrez Id:
351
Gene Symbol:
APP
APP
Alzheimer's Disease
0.760
GeneticVariation
UNIPROT
Human aspartic protease memapsin 2 cleaves the beta-secretase site of beta-amyloid precursor protein.
10677483
2000
rs63750671
×
Entrez Id:
351
Gene Symbol:
APP
APP
Alzheimer's Disease
0.760
GeneticVariation
BEFREE
The contribution of mutations in the amyloid precursor protein (APP) gene known as Flemish (APP/A692G ) and Dutch (APP/E693Q) to the pathogenesis of Alzheimer's disease and hereditary cerebral hemorrhage with amyloidosis of the Dutch type, respectively, was studied in transgenic mice that overexpress the mutant APP in brain.
10671319
2000
rs63750671
×
Entrez Id:
351
Gene Symbol:
APP
APP
Alzheimer's Disease
0.760
GeneticVariation
UNIPROT
Identification of a novel aspartic protease (Asp 2) as beta-secretase.
10656250
1999
rs63750671
×
Entrez Id:
351
Gene Symbol:
APP
APP
Alzheimer's Disease
0.760
GeneticVariation
UNIPROT
Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala-->Gly mutation.
9754958
1998
rs63750671
×
Entrez Id:
351
Gene Symbol:
APP
APP
Alzheimer's Disease
0.760
GeneticVariation
UNIPROT
A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43).
9328472
1997
rs63750671
×
Entrez Id:
351
Gene Symbol:
APP
APP
Alzheimer's Disease
0.760
GeneticVariation
UNIPROT
A mutation in codon 717 of the amyloid precursor protein gene in an Australian family with Alzheimer's disease.
8577393
1995
rs63750671
×
Entrez Id:
351
Gene Symbol:
APP
APP
Alzheimer's Disease
0.760
GeneticVariation
UNIPROT
Characterization of amyloid fibril beta-peptide in familial Alzheimer's disease with APP717 mutations.
8267572
1993
rs63750671
×
Entrez Id:
351
Gene Symbol:
APP
APP
Alzheimer's Disease
0.760
GeneticVariation
UNIPROT
Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region.
1415269
1992
rs63750671
×
Entrez Id:
351
Gene Symbol:
APP
APP
Alzheimer's Disease
0.760
GeneticVariation
UNIPROT
Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene.
1303239
1992
rs63750671
×
Entrez Id:
351
Gene Symbol:
APP
APP
Alzheimer's Disease
0.760
GeneticVariation
UNIPROT
Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production.
1465129
1992
rs63750671
×
Entrez Id:
351
Gene Symbol:
APP
APP
Alzheimer's Disease
0.760
GeneticVariation
UNIPROT
More missense in amyloid gene.
1303275
1992
rs63750671
×
Entrez Id:
351
Gene Symbol:
APP
APP
Alzheimer's Disease
0.760
GeneticVariation
UNIPROT
A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid.
1302033
1992
rs63750671
×
Entrez Id:
351
Gene Symbol:
APP
APP
Alzheimer's Disease
0.760
GeneticVariation
UNIPROT
Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease.
1671712
1991