rs63750083
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.800
GeneticVariation
UNIPROT
Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.
29175279
2018
rs63750083
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.800
GeneticVariation
UNIPROT
Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.
27930341
2017
rs63750083
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
A
0.800
CausalMutation
CLINVAR
Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.
27930341
2017
rs63750083
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.800
GeneticVariation
UNIPROT
G206D Mutation of Presenilin-1 Reduces Pen2 Interaction, Increases Aβ42/Aβ40 Ratio and Elevates ER Ca(2+) Accumulation.
25394380
2015
rs63750083
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.800
GeneticVariation
UNIPROT
An atomic structure of human γ-secretase.
26280335
2015
rs63750083
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.800
GeneticVariation
UNIPROT
Novel presenilin 1 mutation (p.I83T) in Tunisian family with early-onset Alzheimer's disease.
26145164
2015
rs63750083
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.800
GeneticVariation
UNIPROT
A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.
24121961
2014
rs63750083
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.800
GeneticVariation
UNIPROT
A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease.
24582897
2014
rs63750083
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.800
GeneticVariation
UNIPROT
Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia: recommendations for family physicians.
24829003
2014
rs63750083
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.800
GeneticVariation
UNIPROT
Alzheimer's disease-linked mutations in presenilin-1 result in a drastic loss of activity in purified γ-secretase complexes.
22529981
2012
rs63750083
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.800
GeneticVariation
UNIPROT
A novel PSEN1 gene mutation (L235R) associated with familial early-onset Alzheimer's disease.
21501661
2011
rs63750083
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
A
0.800
CausalMutation
CLINVAR
Alzheimer disease-related presenilin-1 variants exert distinct effects on monoamine oxidase-A activity in vitro.
21373759
2011
rs63750083
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
A
0.800
CausalMutation
CLINVAR
Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.
20634584
2010
rs63750083
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.800
GeneticVariation
UNIPROT
EFNS guidelines for the diagnosis and management of Alzheimer's disease.
20831773
2010
rs63750083
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.800
GeneticVariation
UNIPROT
Preventing Alzheimer's disease and cognitive decline.
21500874
2010
rs63750083
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.800
GeneticVariation
UNIPROT
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
20298421
2010
rs63750083
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
A
0.800
CausalMutation
CLINVAR
Distinct cerebrospinal fluid amyloid beta peptide signatures in sporadic and PSEN1 A431E-associated familial Alzheimer's disease.
20145736
2010
rs63750083
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.800
GeneticVariation
UNIPROT
Presenilin1 G217R mutation linked to Alzheimer disease with cotton wool plaques.
19667325
2009
rs63750083
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
A
0.800
CausalMutation
CLINVAR
The A431E mutation in PSEN1 causing familial Alzheimer's disease originating in Jalisco State, Mexico: an additional fifteen families.
16897084
2006
rs63750083
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.800
GeneticVariation
UNIPROT
C-terminal PAL motif of presenilin and presenilin homologues required for normal active site conformation.
16305624
2006
rs63750083
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
A
0.800
CausalMutation
CLINVAR
Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families.
16628450
2006
rs63750083
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.800
GeneticVariation
UNIPROT
A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis.
15364419
2004
rs63750083
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.800
GeneticVariation
UNIPROT
A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances.
11796781
2002
rs63750083
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.800
GeneticVariation
UNIPROT
Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities.
12370477
2002
rs63750083
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.800
GeneticVariation
UNIPROT
Very early onset Alzheimer's disease with spastic paraparesis associated with a novel presenilin 1 mutation (Phe237Ile).
11561050
2001