|
Familial (FPAH)
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We injected fertilized zebrafish eggs with antisense morpholino oligonucleotides (MOs) that inhibit expression of zebrafish familial AD gene orthologues psen1 and psen2.
|
28636676 |
2017 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The novel mutation PSEN2 (p.His169Asn, c.505C>A) was identified in 1 patient with familial late-onset AD and in 1 sporadic FTD patient.
|
25323700 |
2015 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, an extended sequencing analysis of Auguste D's DNA revealed no indication of a nonsynonymous hetero- or homozygous mutation in the exons of APP, PSEN1, and PSEN2 genes comprising the already known familial AD mutations.
|
25130656 |
2014 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations of presenilin 1 (PS1) and presenilin 2 (PS2) are causative factors for autosomal-dominant early-onset familial AD (FAD).
|
21900357 |
2011 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
More than 200 fully penetrant mutations in the amyloid beta-protein precursor (APP), presenilin 1 (or PSEN1), and presenilin 2 (PSEN2) have been linked to early-onset familial AD (FAD).
|
20205669 |
2010 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A separate study, conducted at the University of Washington, assessed the impact of deterministic genetic testing by disclosing presenilin-1, presenilin-2, or TAU genotype to 22 individuals at risk for familial AD or frontotemporal dementia.
|
19012865 |
2008 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in presenilin 1 gene (PSEN1), located on chromosome 14, more rarely in amyloid-beta protein precursor (APP) on chromosome 21, and presenilin 2 genes (PSEN2) on chromosome 1, underlie the pathogenesis of most cases of familial early onset of AD (EOAD).
|
15190677 |
2004 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The total amount of hyperphosphorylated tau protein (p-tau load), present as neurofibrillary tangles (NFTs), neuropil threads or plaque neurites, was quantified in the frontal cortex of 109 cases of sporadic Alzheimer's disease (AD) and 35 cases of familial AD due to missense mutations in the presenilin-1, presenilin-2 and amyloid precursor protein genes. p-tau load was inversely correlated with age at onset of illness in both sporadic and familial AD but not with duration of disease.
|
12581338 |
2003 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Three genes (amyloid precursor protein, presenilin 1 and presenilin 2) have been described in the relatively rare, early-onset, autosomal dominant familial form of AD.
|
12053131 |
2002 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Linkage analysis of familial AD identified four responsible genes: three causative genes (beta-amyloid precursor protein, presenilin 1, and presenilin 2) and one susceptibility gene (apolipoprotein E epsilon 4).
|
12391602 |
2002 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the genes amyloid precursor protein (APP), presenilin 1(PS1) and presenilin 2(PS2) have been found in early-onset familial forms of Alzheimer disease
|
10867787 |
2000 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Alternative splicing forms of the PS-1 and PS-2 gene products have previously been reported in fibroblast and brain tissue from both familial and sporadic AD patients, as well as from normal tissues and cell lines.
|
10349860 |
1999 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in genes encoding presenilin-1 (PS1) and presenilin-2 (PS2) have been linked to familial forms of Alzheimer's disease (AD).
|
9639678 |
1998 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We analyzed the effect of the ApoE genotype in two distinct early-onset familial AD groups: families with a mutation in the presenilin-1 gene (PS-1) on chromosome 14, and families without a mutation detectable in the PS-1, presenilin-2 (PS-2), and the amyloid precursor protein (APP) gene (non-PS early-onset familial AD).
|
9514597 |
1998 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
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 |