rs63749964
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Tau pathology in a case of familial Alzheimer's disease with a valine to glycine mutation at position 717 in the amyloid precursor protein.
|
1465214 |
1992 |
rs63750264
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This mutation, which is predicted to cause the missense substitution of isoleucine for valine at codon 717 of APP, cosegregated perfectly with the FAD trait (lod score = 3.49 at theta = 0.00).
|
1520398 |
1992 |
rs63750264
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The cytoskeletal pathology of a patient with familial Alzheimer's disease (AD) associated with the probably causal amyloid precursor protein (APP) codon 717 Val----Ile mutation is described.
|
1584463 |
1992 |
rs63750264
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The 717Val----Ile substitution in amyloid precursor protein is associated with familial Alzheimer's disease regardless of ethnic groups.
|
1908231 |
1991 |
rs572842823
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The Lys595-->Asn and Met596-->Leu substitutions found in a pedigree of familial Alzheimer's disease, increased the cathepsin D-catalyzed rate of accumulation of 5.5 kDa and 10-12 kDa C286.8a-reactive fragments 5-10fold.
|
7523115 |
1994 |
rs572842823
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Only the Swedish familial Alzheimer's disease mutation (K595N/M596L) strongly increases A beta production.
|
7695913 |
1995 |
rs371425292
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Only the Swedish familial Alzheimer's disease mutation (K595N/M596L) strongly increases A beta production.
|
7695913 |
1995 |
rs63750264
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Absence of linkage disequilibrium at amyloid precursor protein gene locus in Japanese familial Alzheimer's disease with 717Val-->Ile mutation.
|
8121639 |
1993 |
rs63749964
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Familial Alzheimer's disease. A pedigree with a mis-sense mutation in the amyloid precursor protein gene (amyloid precursor protein 717 valine-->glycine).
|
8461968 |
1993 |
rs63750264
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In dominantly inherited familial Alzheimer's disease (FAD), point mutations V6421, V642F and V642G have been discovered in APP695.
|
8599933 |
1996 |
rs63749964
|
|
|
0.060 |
GeneticVariation |
BEFREE |
In dominantly inherited familial Alzheimer's disease (FAD), point mutations V6421, V642F and V642G have been discovered in APP695.
|
8599933 |
1996 |
rs63751309
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Presenilin-1 (PS-1) gene of three Japanese pedigrees with early-onset familial Alzheimer's disease (FAD) disclosed two novel missense mutations resulting in Val96Phe and Ile213Thr, and one mutation resulting in His163Arg.
|
8733303 |
1996 |
rs63750601
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Presenilin-1 (PS-1) gene of three Japanese pedigrees with early-onset familial Alzheimer's disease (FAD) disclosed two novel missense mutations resulting in Val96Phe and Ile213Thr, and one mutation resulting in His163Arg.
|
8733303 |
1996 |
rs63751420
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Fragmentation of cellular PS-1 was not affected by the missense point mutation of Ala260Val on PS-1 which was identified in a pedigree with familial Alzheimer's disease.
|
8806669 |
1996 |
rs63750264
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In this study, we screened for the amyloid beta precursor protein (APP) 665 (glutamic acid to aspartic acid), 670/671 (lysine to asparagine and methionine to leucine) and 717 (valine to isoleucine) mutations in 34 persons affected with familial Alzheimer's disease (AD) and 139 with sporadic AD, originating from eastern Finland, using polymerase chain reaction amplification and restriction enzyme digestion.
|
8867023 |
1996 |
rs371425292
|
|
|
0.060 |
GeneticVariation |
BEFREE |
In this study, we screened for the amyloid beta precursor protein (APP) 665 (glutamic acid to aspartic acid), 670/671 (lysine to asparagine and methionine to leucine) and 717 (valine to isoleucine) mutations in 34 persons affected with familial Alzheimer's disease (AD) and 139 with sporadic AD, originating from eastern Finland, using polymerase chain reaction amplification and restriction enzyme digestion.
|
8867023 |
1996 |
rs63750363
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we screened for the amyloid beta precursor protein (APP) 665 (glutamic acid to aspartic acid), 670/671 (lysine to asparagine and methionine to leucine) and 717 (valine to isoleucine) mutations in 34 persons affected with familial Alzheimer's disease (AD) and 139 with sporadic AD, originating from eastern Finland, using polymerase chain reaction amplification and restriction enzyme digestion.
|
8867023 |
1996 |
rs63750231
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We found the mutations, G384A, E280A in two FAD and H163R in one sporadic AD patient, and no N1411 or M239V mutation in PS-2 gene, and no mutation in exons 16 and 17 in amyloid precursor protein (APP) gene.
|
8945747 |
1996 |
rs63750590
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We found the mutations, G384A, E280A in two FAD and H163R in one sporadic AD patient, and no N1411 or M239V mutation in PS-2 gene, and no mutation in exons 16 and 17 in amyloid precursor protein (APP) gene.
|
8945747 |
1996 |
rs762508225
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We found the mutations, G384A, E280A in two FAD and H163R in one sporadic AD patient, and no N1411 or M239V mutation in PS-2 gene, and no mutation in exons 16 and 17 in amyloid precursor protein (APP) gene.
|
8945747 |
1996 |
rs778936527
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found the mutations, G384A, E280A in two FAD and H163R in one sporadic AD patient, and no N1411 or M239V mutation in PS-2 gene, and no mutation in exons 16 and 17 in amyloid precursor protein (APP) gene.
|
8945747 |
1996 |
rs63749964
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Seven at risk members of a familial Alzheimer's disease pedigree associated with the amyloid precursor protein 717 valine to glycine mutation underwent serial MR scanning and neuropsychological assessments over 3 years.
|
9010004 |
1996 |
rs1231783932
|
|
|
0.050 |
GeneticVariation |
BEFREE |
These results strongly suggest that the PS2 mutation (N141I) linked to FAD alters the metabolism of A beta/betaAPP to foster the production of the form of A beta that most readily deposits in amyloid plaques.
|
9050898 |
1997 |
rs63750215
|
|
|
0.050 |
GeneticVariation |
BEFREE |
These results strongly suggest that the PS2 mutation (N141I) linked to FAD alters the metabolism of A beta/betaAPP to foster the production of the form of A beta that most readily deposits in amyloid plaques.
|
9050898 |
1997 |
rs63751037
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Clinicopathological features of familial Alzheimer's disease associated with the M139V mutation in the presenilin 1 gene. Pedigree but not mutation specific age at onset provides evidence for a further genetic factor.
|
9126060 |
1997 |