Cardiomyopathy, Dilated, 1V
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations of presenilin genes in dilated cardiomyopathy and heart failure.
|
17186461 |
2006 |
Cardiomyopathy, Dilated, 1V
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Cardiomyopathy, Dilated, 1V
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Cardiomyopathy, Dilated, 1V
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
ALZHEIMER DISEASE 4
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease.
|
26166204 |
2015 |
ALZHEIMER DISEASE 4
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Previously unrecognized missense mutation E126K of PSEN2 segregates with early onset Alzheimer's disease in a family.
|
24844686 |
2014 |
ALZHEIMER DISEASE 4
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Novel presenilin mutations within Moroccan patients with Early-Onset Alzheimer's Disease.
|
24704512 |
2014 |
ALZHEIMER DISEASE 4
|
0.600 |
GeneticVariation
|
disease |
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
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Symptom onset in autosomal dominant Alzheimer disease: a systematic review and meta-analysis.
|
24928124 |
2014 |
ALZHEIMER DISEASE 4
|
0.600 |
CausalMutation
|
disease |
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
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients.
|
22503161 |
2012 |
ALZHEIMER DISEASE 4
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Mutant presenilin 2 increases β-secretase activity through reactive oxygen species-dependent activation of extracellular signal-regulated kinase.
|
22249458 |
2012 |
ALZHEIMER DISEASE 4
|
0.600 |
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 |
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 |
The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer disease.
|
20457965 |
2010 |
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 |
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 |
Molecular signatures of neurodegeneration in the cortex of PS1/PS2 double knockout mice.
|
18834536 |
2008 |
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 |
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 |
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 |
GeneticVariation
|
disease |
UNIPROT |
Presenilins form ER Ca2+ leak channels, a function disrupted by familial Alzheimer's disease-linked mutations.
|
16959576 |
2006 |