ALZHEIMER DISEASE 4
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutant presenilin 2 increases β-secretase activity through reactive oxygen species-dependent activation of extracellular signal-regulated kinase.
|
22249458 |
2012 |
ALZHEIMER DISEASE 4
|
|
0.800 |
CausalMutation
|
CLINVAR |
Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease.
|
26166204 |
2015 |
ALZHEIMER DISEASE 4
|
|
0.800 |
CausalMutation
|
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
|
|
0.800 |
CausalMutation
|
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
|
|
0.800 |
CausalMutation
|
CLINVAR |
Symptom onset in autosomal dominant Alzheimer disease: a systematic review and meta-analysis.
|
24928124 |
2014 |
ALZHEIMER DISEASE 4
|
|
0.800 |
CausalMutation
|
CLINVAR |
The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer disease.
|
20457965 |
2010 |
ALZHEIMER DISEASE 4
|
|
0.800 |
CausalMutation
|
CLINVAR |
Presenilins form ER Ca2+ leak channels, a function disrupted by familial Alzheimer's disease-linked mutations.
|
16959576 |
2006 |
ALZHEIMER DISEASE 4
|
|
0.800 |
CausalMutation
|
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
|
|
0.800 |
CausalMutation
|
CLINVAR |
Lewy body pathology in familial Alzheimer disease: evidence for disease- and mutation-specific pathologic phenotype.
|
16533963 |
2006 |
ALZHEIMER DISEASE 4
|
|
0.800 |
CausalMutation
|
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
|
|
0.800 |
CausalMutation
|
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
|
|
0.800 |
CausalMutation
|
CLINVAR |
Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.
|
20634584 |
2010 |
ALZHEIMER DISEASE 4
|
|
0.800 |
CausalMutation
|
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
|
|
0.800 |
CausalMutation
|
CLINVAR |
[Familial Alzheimer's disease with presenilin 2 N141I mutation. A case report].
|
18833506 |
2008 |
ALZHEIMER DISEASE 4
|
|
0.800 |
CausalMutation
|
CLINVAR |
Candidate gene for the chromosome 1 familial Alzheimer's disease locus.
|
7638622 |
1995 |
ALZHEIMER DISEASE 4
|
|
0.800 |
CausalMutation
|
CLINVAR |
MOCA is an integrator of the neuronal death signals that are activated by familial Alzheimer's disease-related mutants of amyloid β precursor protein and presenilins.
|
22115042 |
2012 |
ALZHEIMER DISEASE 4
|
|
0.800 |
GeneticVariation
|
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel mutation in the PSEN2 gene (N141Y) associated with early-onset autosomal dominant Alzheimer's disease in a Chinese Han family.
|
24838186 |
2014 |
ALZHEIMER DISEASE 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Presenilin 2 modulates endoplasmic reticulum (ER)-mitochondria interactions and Ca2+ cross-talk.
|
21285369 |
2011 |
ALZHEIMER DISEASE 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Presenilins form ER Ca2+ leak channels, a function disrupted by familial Alzheimer's disease-linked mutations.
|
16959576 |
2006 |
ALZHEIMER DISEASE 4
|
|
0.800 |
GeneticVariation
|
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Presenilin 2 mutation R71W in an Italian early-onset sporadic Alzheimer's disease case.
|
21544564 |
2011 |
ALZHEIMER DISEASE 4
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Previously unrecognized missense mutation E126K of PSEN2 segregates with early onset Alzheimer's disease in a family.
|
24844686 |
2014 |
ALZHEIMER DISEASE 4
|
|
0.800 |
GeneticVariation
|
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients.
|
22503161 |
2012 |