×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
GeneticVariation
disease
CLINVAR
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
Biomarker
disease
HPO
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families.
7550356
1995
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.
7596406
1995
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Mutations of the presenilin I gene in families with early-onset Alzheimer's disease.
8634712
1995
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease.
8910898
1996
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
A novel presenilin-1 mutation: increased beta-amyloid and neurofibrillary changes.
9189043
1997
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Alzheimer's disease-associated presenilins 1 and 2: accelerated amyloid fibril formation of mutant 410 Cys-->Tyr and 141 Asn-->Ile peptides.
9196071
1997
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
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
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
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
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Presenilin mutations in Alzheimer's disease.
9521418
1998
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
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
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease. Mutation in brief no. 254. Online.
10447269
1999
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
The impact of different presenilin 1 andpresenilin 2 mutations on amyloid deposition, neurofibrillary changes and neuronal loss in the familial Alzheimer's disease brain: evidence for other phenotype-modifying factors.
10468510
1999
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
GeneticVariation
disease
UNIPROT
The authors conclude that PSEN1 mutations can be associated with clinical features of frontotemporal dementia .
11094121
2000
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
Biomarker
disease
CTD_human
The authors conclude that PSEN1 mutations can be associated with clinical features of frontotemporal dementia .
11094121
2000
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
GeneticVariation
disease
BEFREE
The authors conclude that PSEN1 mutations can be associated with clinical features of frontotemporal dementia .
11094121
2000
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations.
11524469
2001
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies.
11684347
2001
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families.
11710891
2001
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
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
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
AlteredExpression
disease
BEFREE
Our results suggest that alternative transcription of PS1 may be associated with FTD .
11973477
2002
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
AlteredExpression
disease
BEFREE
Our results suggest that alternative transcription of PS1 may be associated with FTD .
11997713
2002
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
GeneticVariation
disease
BEFREE
We conclude that the clinical features of the Kluver-Bucy syndrome and FTD can be associated with PSEN1 mutations.
12053127
2002