|
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 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the presenilin 1 and presenilin 2 genes have been identified that cause early onset familial Alzheimer's disease.
|
9700656 |
1998 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Many cases of early-onset familial Alzheimer's disease (FAD) are caused by mutations in the presenilin 1 (PS1) and PS2 genes.
|
10025714 |
1999 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the presenilin 1 (PSEN1) gene are more commonly identified as genetic causes of early-onset familial Alzheimer's disease than mutations in the amyloid precursor protein (APP) and the presenilin 2 (PSEN2) genes.
|
20213228 |
2010 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Early onset familial Alzheimer's disease (FAD) is linked to autosomal dominant mutations in the amyloid precursor protein (APP) and presenilin 1 and 2 (PS1 and PS2) genes.
|
16923170 |
2006 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Many cases of early-onset familial Alzheimer's disease have been linked to mutations within two genes encoding the proteins presenilin-1 and presenilin-2.
|
10098859 |
1999 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human presenilin genes (PSEN1 and PSEN2) are associated with early onset familial Alzheimer disease.
|
9073509 |
1997 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We are the first to demonstrate a novel PSEN2 N141Y mutation in a Chinese Han family with early-onset AD.
|
24838186 |
2014 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In early-onset familial Alzheimer's disease (AD) pathogenic mutations have been found in the amyloid precursor protein (APP) gene and in the presenilin (PS)-1 and PS-2 genes.
|
9851443 |
1998 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the presenilin 1 (PS1) and presenilin 2 genes cosegregate with the majority of early-onset familial Alzheimer's disease (FAD) pedigrees.
|
8938131 |
1996 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in presenilin 2 are rare causes of early onset familial Alzheimer's disease.
|
20375137 |
2010 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The majority of early-onset familial Alzheimer disease cases are caused by mutations in the genes encoding presenilin 1 (PS1) and presenilin 2 (PS2).
|
11746362 |
2001 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The large majority of early-onset familial Alzheimer's disease (FAD) cases are linked to mutations in the genes coding for presenilin 1 (PS1) and presenilin 2 (PS2).
|
10670705 |
2000 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the presenilin 2 (PSEN2) gene are less commonly identified as genetic causes of early-onset familial Alzheimer's disease than mutations in the amyloid precursor protein (APP) and the presenilin 1 (PSEN1) genes.
|
21544564 |
2011 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Three rare forms of autosomal-dominant early-onset familial Alzheimer disease have been identified and are associated with mutations in amyloid precursor protein, presenilin 1, and presenilin 2 genes.
|
18414205 |
2008 |
|
Familial Alzheimer's disease of early onset
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Because distinct mutations in presenilin 1 and presenilin 2 are a major cause of early-onset familial Alzheimer's disease, we generated four monoclonal antibodies for the identification, localization, and investigation of presenilins in various cell lines and tissues from patients and controls.
|
10340748 |
1999 |