|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Computer-assisted quantification revealed a significant increase in A beta 42, but not A beta 40, burden in the brains from 4 PS1-FAD patients compared with those from 12 sporadic AD patients.
|
8837617 |
1996 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease.
|
26194182 |
2015 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group.
|
9719376 |
1998 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
DGGE method for the mutational analysis of the coding and proximal promoter regions of the Alzheimer's disease presenilin-1 gene: two novel mutations.
|
10533070 |
1999 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Disease-related mutations among Caribbean Hispanics with familial dementia.
|
25333068 |
2014 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Distinct cerebrospinal fluid amyloid beta peptide signatures in sporadic and PSEN1 A431E-associated familial Alzheimer's disease.
|
20145736 |
2010 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Dual roles of the transmembrane protein p23/TMP21 in the modulation of amyloid precursor protein metabolism.
|
17288597 |
2007 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency.
|
26923592 |
2016 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles.
|
9298817 |
1997 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1.
|
18580586 |
2008 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Early onset familial Alzheimer's disease: Mutation frequency in 31 families.
|
12552037 |
2003 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Early-onset Alzheimer's disease caused by a novel mutation at codon 219 of the presenilin-1 gene.
|
10208579 |
1999 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation.
|
9225696 |
1997 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation.
|
9225696 |
1997 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum.
|
10441572 |
1999 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD.
|
27014058 |
2016 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
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 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Enzymatic characteristics of I213T mutant presenilin-1/gamma-secretase in cell models and knock-in mouse brains: familial Alzheimer disease-linked mutation impairs gamma-site cleavage of amyloid precursor protein C-terminal fragment beta.
|
18430735 |
2008 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.
|
9384602 |
1998 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.
|
9384602 |
1998 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease.
|
24880964 |
2014 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Extreme cerebrospinal fluid amyloid beta levels identify family with late-onset Alzheimer's disease presenilin 1 mutation.
|
17366635 |
2007 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Familial Alzheimer disease presenilin-1 mutations alter the active site conformation of γ-secretase.
|
22461631 |
2012 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Familial Alzheimer disease presenilin-1 mutations alter the active site conformation of γ-secretase.
|
22461631 |
2012 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Familial Alzheimer's disease coding mutations reduce Presenilin-1 expression in a novel genomic locus reporter model.
|
24011544 |
2014 |