ALZHEIMER DISEASE 4
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
ALZHEIMER DISEASE 4
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Candidate gene for the chromosome 1 familial Alzheimer's disease locus.
|
7638622 |
1995 |
ALZHEIMER DISEASE 4
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Candidate gene for the chromosome 1 familial Alzheimer's disease locus.
|
7638622 |
1995 |
ALZHEIMER DISEASE 4
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.
|
7651536 |
1995 |
ALZHEIMER DISEASE 4
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.
|
7651536 |
1995 |
ALZHEIMER DISEASE 4
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice.
|
8986743 |
1997 |
ALZHEIMER DISEASE 4
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid beta protein ending at the 42nd (or 43rd) residue.
|
9050898 |
1997 |
ALZHEIMER DISEASE 4
|
0.600 |
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 4
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.
|
10631141 |
2000 |
ALZHEIMER DISEASE 4
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation in the predicted TM2 domain of the presenilin 2 gene in a Spanish patient with late-onset Alzheimer's disease.
|
10732806 |
1998 |
ALZHEIMER DISEASE 4
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Atypical dementia associated with a novel presenilin-2 mutation.
|
14681895 |
2003 |
ALZHEIMER DISEASE 4
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in Abeta 42/40 ratios.
|
15663477 |
2005 |
ALZHEIMER DISEASE 4
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Lewy body pathology in familial Alzheimer disease: evidence for disease- and mutation-specific pathologic phenotype.
|
16533963 |
2006 |
ALZHEIMER DISEASE 4
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40.
|
16752394 |
2006 |
ALZHEIMER DISEASE 4
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Presenilins form ER Ca2+ leak channels, a function disrupted by familial Alzheimer's disease-linked mutations.
|
16959576 |
2006 |
ALZHEIMER DISEASE 4
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Presenilins form ER Ca2+ leak channels, a function disrupted by familial Alzheimer's disease-linked mutations.
|
16959576 |
2006 |
ALZHEIMER DISEASE 4
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
[Familial Alzheimer's disease with presenilin 2 N141I mutation. A case report].
|
18833506 |
2008 |
ALZHEIMER DISEASE 4
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Molecular signatures of neurodegeneration in the cortex of PS1/PS2 double knockout mice.
|
18834536 |
2008 |
ALZHEIMER DISEASE 4
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Three-year follow-up of a patient with early-onset Alzheimer's disease with presenilin-2 N141I mutation - case report and review of the literature.
|
19073399 |
2008 |
ALZHEIMER DISEASE 4
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2.
|
20375137 |
2010 |
ALZHEIMER DISEASE 4
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer disease.
|
20457965 |
2010 |
ALZHEIMER DISEASE 4
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.
|
20634584 |
2010 |
ALZHEIMER DISEASE 4
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Presenilin-2 mutation causes early amyloid accumulation and memory impairment in a transgenic mouse model of Alzheimer's disease.
|
21234330 |
2011 |
ALZHEIMER DISEASE 4
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Presenilin 2 modulates endoplasmic reticulum (ER)-mitochondria interactions and Ca2+ cross-talk.
|
21285369 |
2011 |
ALZHEIMER DISEASE 4
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Presenilin 2 mutation R71W in an Italian early-onset sporadic Alzheimer's disease case.
|
21544564 |
2011 |