Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Distinct cerebrospinal fluid amyloid beta peptide signatures in sporadic and PSEN1 A431E-associated familial Alzheimer's disease.
|
20145736 |
2010 |
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Familial Alzheimer disease presenilin-1 mutations alter the active site conformation of γ-secretase.
|
22461631 |
2012 |
Frontotemporal dementia
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients.
|
22503161 |
2012 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Presenilin 1 mutants impair the self-renewal and differentiation of adult murine subventricular zone-neuronal progenitors via cell-autonomous mechanisms involving notch signaling.
|
20484632 |
2010 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Presenilin-1 C410Y Alzheimer disease plaques contain synaptic proteins.
|
17545141 |
2007 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction.
|
27206484 |
2016 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis of patients with neurodegenerative disorders using NeuroX array.
|
25174650 |
2015 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida.
|
27073747 |
2016 |
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
PSEN1 and PRNP gene mutations: co-occurrence makes onset very early in a family with FTD phenotype.
|
21297264 |
2011 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Presenilin/γ-secretase regulates neurexin processing at synapses.
|
21559374 |
2011 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Novel mutations and repeated findings of mutations in familial Alzheimer disease.
|
15776278 |
2005 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutations of the presenilin I gene in families with early-onset Alzheimer's disease.
|
8634712 |
1995 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Disease-related mutations among Caribbean Hispanics with familial dementia.
|
25333068 |
2014 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Alzheimer disease-related presenilin-1 variants exert distinct effects on monoamine oxidase-A activity in vitro.
|
21373759 |
2011 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease.
|
26194182 |
2015 |
Frontotemporal dementia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations of three different genes-amyloid precursor protein (APP), presenilin 1 (PS-1), presenilin 2 (PS-2)-have been found in early-onset autosomal dominant forms of AD, of the human microtubule associated-protein tau gene (MAPT) in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), of the BRI gene in familial British dementia, of the PI12 gene in familial encephalopathy with neuroserpin inclusion bodies.
|
11914409 |
2002 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
U1 small nuclear ribonucleoproteins (snRNPs) aggregate in Alzheimer's disease due to autosomal dominant genetic mutations and trisomy 21.
|
24773620 |
2014 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production.
|
23843529 |
2013 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Human presenilin-1, but not familial Alzheimer's disease (FAD) mutants, facilitate Caenorhabditis elegans Notch signalling independently of proteolytic processing.
|
9680315 |
1997 |
Frontotemporal dementia
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
|
26539891 |
2015 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Phenotypic profile of early-onset familial Alzheimer's disease caused by presenilin-1 E280A mutation.
|
22766738 |
2012 |
Frontotemporal dementia
|
0.800 |
Biomarker
|
disease |
BEFREE |
We screened 37 AD, 8 mild cognitive impairment (MCI), 3 AD and CVD (cerebrovascular disease), 3 MCI and CVD, 8 frontotemporal dementia (FTD) and 2 progressive supranuclear palsy (PSP) patients, and 28 normal controls (NCs).We sequenced PSEN1, PSEN2 and APP (EOAD risk factors), as well as MAPT, GRN and TARDBP for all cases and NCs, and analysed the APOE, CLU, CR1 and PICALM genotypes as well as the MAPT and ACE haplotypes (LOAD risk factors) for the AD (n = 37) and AD + MCI (n = 45) cases and NCs (n = 28).We identified variants in PSEN1, PSEN2 and TARDBP across a range of phenotypes (AD, AD and CVD, FTD and PSP), suggesting that screening of all known candidate genes of Alzheimer's and non-Alzheimer's forms of dementias in all dementia cases might be warranted.
|
26159191 |
2015 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Lysosomal alkalization and dysfunction in human fibroblasts with the Alzheimer's disease-linked presenilin 1 A246E mutation can be reversed with cAMP.
|
24418614 |
2014 |
Frontotemporal dementia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees.
|
17553989 |
2007 |