|
Familial Alzheimer's disease of early onset
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the amyloid precursor protein (APP), presenilin 1 (PSEN1) and presenilin 2 (PSEN2) genes are associated with early-onset familial Alzheimer's disease (EOAD).
|
16546171 |
2006 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the presenilin-1 (PS-1) and presenilin-2 (PS-2) genes account for the majority of cases of early-onset familial Alzheimer's disease (AD).
|
10349860 |
1999 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
Biomarker
|
disease |
BEFREE |
PSEN2 (presenilin 2) is one of the 3 proteins that, when mutated, causes early onset familial Alzheimer disease (FAD) cases.
|
30892128 |
2019 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
Biomarker
|
disease |
BEFREE |
The varied ways in which mutations in presenilins (PSEN1 and PSEN2) affect amyloid b precursor protein (APP) processing in causing early-onset familial Alzheimer disease (FAD) are complex and not yet properly understood.
|
16752394 |
2006 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
Biomarker
|
disease |
BEFREE |
The final identification of PS-2 as the causal gene for early-onset familial Alzheimer's disease in Voga-German pedigrees was concluded based on the point mutation found in the candidate cDNA isolated from this familial AD.
|
9121700 |
1997 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
Biomarker
|
disease |
BEFREE |
Missense substitutions in the presenilin 1 (PS1) and presenilin 2 (PS2) proteins are associated with early-onset familial Alzheimer's disease.
|
10037471 |
1999 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
Biomarker
|
disease |
BEFREE |
Genetic mutations in AβPP, PSEN1, and PSEN2 that alter amyloid-β precursor protein and Notch processing drive reactivation of the cell cycle in EOFAD, while age-related reproductive endocrine dyscrasia that upregulates mitogenic TNF signaling and AβPP processing toward the amyloidogenic pathway drives reactivation of the cell cycle in LOSAD.
|
26402752 |
2015 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the presenilin-1 (PS1) and presenilin-2 (PS2) genes account for the majority of early-onset familial Alzheimer's disease cases.
|
10658639 |
2000 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
Biomarker
|
disease |
BEFREE |
Over 200 rare and fully penetrant pathogenic mutations in amyloid precursor protein (APP), presenilin 1 and 2 (PSEN1 and PSEN2) cause a subset of early-onset familial Alzheimer's disease (EO-FAD).
|
23752245 |
2014 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
Biomarker
|
disease |
BEFREE |
Missense mutations in two related genes, termed presenilin 1 (PS1) and presenilin 2 (PS2), cause dementia in a subset of early-onset familial Alzheimer's disease (FAD) pedigrees.
|
9354339 |
1997 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
Biomarker
|
disease |
BEFREE |
Presenilin-1 (PS1) and presenilin-2 (PS2) are associated with a majority of early onset familial Alzheimer's disease (FAD).
|
9106743 |
1997 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in presenilin 1 (PS1) and presenilin 2 (PS2) are the most common genetic factors underlying the development of early-onset familial Alzheimer's disease (FAD).
|
10360683 |
1999 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the presenilin 1 (PS1) and presenilin 2 (PS2) genes can cause Alzheimer's disease in affected members of the majority of early-onset familial Alzheimer's disease (FAD) pedigrees.
|
9212102 |
1997 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in genes encoding presenilin 1 and presenilin 2 account for the majority of cases of early-onset familial Alzheimer's disease.
|
9115271 |
1997 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations of 3 causative genes, namely presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid precursor protein (APP), have been identified as the major causes of early-onset familial Alzheimer's disease (EOFAD).
|
24650794 |
2014 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Eleven early-onset dementia families, all with affected individuals who have either presented clinical symptoms of early onset familial Alzheimer's disease (EOFAD) or have been confirmed to have EOFAD by autopsy, and two early onset cases with biopsy-confirmed AD pathology, were screened for missense mutations in the entire coding region of presenilin-1 (PS-1) and -2 (PS-2) genes.
|
9172170 |
1997 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our contribution increases the total number of described families carrying this mutation and help to improve the characterization of clinical phenotype in EOFAD associated to PSEN2 mutations.
|
26166204 |
2015 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in two related genes, presenilin 1 and presenilin 2 (PS1 and PS2), cause a subset of early-onset familial Alzheimer's disease (FAD).
|
10078973 |
1999 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Acylphosphatase (AcPase), an enzyme that modulates the activity of Ca(2+)-ATPase by hydrolysing its phosphorylated moiety, has been found to be significantly higher in cultured skin fibroblasts from donors affected by early onset familial Alzheimer's disease (EOFAD) with PS-1 and PS-2 gene mutations.
|
8805118 |
1996 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Three major causative genes have been implicated as the cause of early-onset familial Alzheimer's disease (AD): the amyloid precursor protein gene (APP), presenilin-1 (PSEN1) and PSEN2.
|
18587238 |
2008 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Oral glucose tolerance tests on subjects with the presenilin 2 Met239Val mutation unaffected by early onset familial Alzheimer's disease (mean age 35 years) and on their first-degree relatives without the mutation demonstrated no evidence of glucose intolerance or increased proinsulin secretion.
|
10362543 |
1999 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Most cases of early onset familial Alzheimer's disease (FAD) involve mutations in presenilins (PS1 and PS2) genes.
|
10218912 |
1999 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These observations imply that the E5-1 gene on chromosome 1 and the S182 gene on chromosome 14q24.3 are members of a family of genes (presenilins) with related functions, and indicates that mutations in conserved residues of E5-1 could also play a role in the genesis of AD.
|
7651536 |
1995 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Most early-onset familial Alzheimer disease (AD) cases are caused by mutations in the highly related genes presenilin 1 (PS1) and presenilin 2 (PS2).
|
9771752 |
1998 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Of nearly 200 PRESENILIN mutations causing early onset, familial Alzheimer's disease (FAD) only the K115Efx10 mutation of PSEN2 causes truncation of the open reading frame.
|
25814654 |
2015 |