×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
Mutations of the presenilin I gene in families with early-onset Alzheimer's disease.
8634712
1995
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.
7596406
1995
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
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
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
As families AD/A and AD/B have very similar AD phenotype our observation of two mutations in functionally different domains suggest that onset age and severity of AD may not be very helpful predictors of the location of putative S182 mutations.
8634711
1995
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
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
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
Three different mutations of presenilin 1 gene in early-onset Alzheimer's disease families.
8733303
1996
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
Computer-assisted quantification revealed a significant increase in A beta 42, but not A beta 40, burden in the brains from 4 PS1 -FAD patients compared with those from 12 sporadic AD patients.
8837617
1996
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
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
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE alleles.
9298817
1997
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
Eleven early-onset dementia families, all with affected individuals who have either presented clinical symptoms of early onset familial Alzheimer's disease (EOFAD) or have been confirmed to have EOFAD by autopsy, and two early onset cases with biopsy-confirmed AD pathology, were screened for missense mutations in the entire coding region of presenilin-1 (PS-1 ) and -2 (PS-2) genes.
9172170
1997
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease.
9833068
1998
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group.
9719376
1998
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
Two novel presenilin-1 mutations (Ser169Leu and Pro436Gln) associated with very early onset Alzheimer's disease.
9831473
1998
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene.
9521423
1998
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
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
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
A novel Polish presenilin-1 mutation (P117L) is associated with familial Alzheimer's disease and leads to death as early as the age of 28 years.
9507958
1998
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
Missense mutation in exon 11 (Codon 378) of the presenilin-1 gene in a French family with early-onset Alzheimer's disease and transmission study by mismatch enhanced allele specific amplification. Mutations in brief no. 141. Online. besancon@rockefeller1.univ.lyon1.fr.
10200054
1998
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
Pathogenic presenilin 1 mutations (P436S & I143F) in early-onset Alzheimer's disease in the UK. Mutations in brief no. 223. Online.
10090481
1999
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
A presenilin-1 Thr116Asn substitution in a family with early-onset Alzheimer's disease.
10439444
1999
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
Early-onset Alzheimer's disease caused by a novel mutation at codon 219 of the presenilin-1 gene.
10208579
1999
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
DGGE method for the mutational analysis of the coding and proximal promoter regions of the Alzheimer's disease presenilin-1 gene: two novel mutations.
10533070
1999
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
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
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures.
10025789
1999
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum.
10441572
1999