|
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A guanine-to-adenine transition in exon 17 of the APP gene resulting in a valine-to-isoleucine substitution at codon 717 was detected in 14 subjects including 6 patients with EOAD.
|
25138979 |
2014 |
|
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.
|
28350801 |
2017 |
|
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
More missense in amyloid gene.
|
1303275 |
1992 |
|
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This result strongly suggests that the missense mutations at codon 717 produce AD by altering the amino acid sequence of APP rather than the IRE.
|
1619445 |
1992 |
|
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Direct sequencing of exons 16 and 17 of the beta-amyloid precursor protein gene in 14 families with familial early onset Alzheimer's disease without the known pathogenic mutation (APP717) failed to reveal other mutations within the beta-amyloid sequence in this form of the disorder.
|
1791986 |
1991 |
|
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Screening exons 16 and 17 of the amyloid precursor protein gene in sporadic early-onset Alzheimer's disease.
|
26803359 |
2016 |
|
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Screening for the beta-amyloid precursor protein mutation (APP717: Val----Ile) in extended pedigrees with early onset Alzheimer's disease.
|
1922963 |
1991 |
|
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Clinical characterization of an APP mutation (V717I) in five Han Chinese families with early-onset Alzheimer's disease.
|
27838006 |
2017 |
|
Alzheimer Disease, Early Onset
|
0.500 |
Biomarker
|
disease |
CTD_human |
Aβ40 oligomers identified as a potential biomarker for the diagnosis of Alzheimer's disease.
|
21209907 |
2010 |
|
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
AbetaPP A713T mutation in late onset Alzheimer's disease with cerebrovascular lesions.
|
19363265 |
2009 |
|
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The three proteins identified to have mutations in their corresponding genes leading to presenile Alzheimer dementia (AD)-the amyloid precursor protein (APP) and presenilin 1 and 2-all interact with other proteins.
|
10860781 |
2000 |
|
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene.
|
15365148 |
2004 |
|
Alzheimer Disease, Early Onset
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
These include the possibilities that mice are incapable of developing AD for reasons dependent on their APP sequence; and that appropriate regulation of APP gene is required for pathology to develop.
|
8117426 |
1993 |
|
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in three genes (PSEN1, PSEN2, and APP) have been identified in autosomal dominant forms of EOAD.
|
18387709 |
2009 |
|
Alzheimer Disease, Early Onset
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations in presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid precursor protein (APP) are major genetic causes of early-onset Alzheimer's disease (EOAD).
|
30797548 |
2020 |
|
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the PSEN1, PSEN2, and APP genes seem to be rare in this population, as these genes exhibited no pathogenic mutations in our cohort of eoAD and FTLD patients even though about 40% of the cases were familial ones.
|
21959359 |
2013 |
|
Alzheimer Disease, Early Onset
|
0.500 |
Biomarker
|
disease |
CTD_human |
On the metal ion (Zn(2+), Cu(2+)) coordination with beta-amyloid peptide: DFT computational study.
|
20640797 |
2010 |
|
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The beta-amyloid precursor protein (APP) gene (on chromosome 21), Presenilin 1 (PS1) gene (on chromosome 14) and Presenilin 2 (PS2) gene (on chromosome 1) are responsible for autosomal dominant early-onset Alzheimer's disease (EOAD).
|
15119738 |
2004 |
|
Alzheimer Disease, Early Onset
|
0.500 |
Biomarker
|
disease |
CTD_human |
Amyloid-beta peptide binds with heme to form a peroxidase: relationship to the cytopathologies of Alzheimer's disease.
|
16492752 |
2006 |
|
Alzheimer Disease, Early Onset
|
0.500 |
Biomarker
|
disease |
BEFREE |
CRISPR/Cas9 Mediated Disruption of the Swedish APP Allele as a Therapeutic Approach for Early-Onset Alzheimer's Disease.
|
29858078 |
2018 |
|
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant early-onset Alzheimer's disease (EOAD) is genetically heterogeneous and has been associated with mutations in 3 different genes, coding for amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2).
|
30104866 |
2018 |
|
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These data suggest that mutations in APP are a rare cause of familial early onset AD (3/21 families tested) and that within APP most, possibly all, mutations which cause AD are in exon 17.
|
1303172 |
1992 |
|
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Early-onset Alzheimer disease in this family was associated with a V717G mutation in the amyloid precursor protein gene (APP).
|
19950418 |
2010 |
|
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease.
|
23224319 |
2013 |
|
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To identify potential intracellular compartments involved in Abeta production, we expressed human APP-695 (APPwt) and APP-695 harboring the Swedish double mutation (APPswe) associated with familial early-onset Alzheimer's disease, in mouse N2a cells.
|
8621605 |
1996 |