|
rs761592007
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We reported a patient with early-onset FAD and the PSEN2 p.Met239Ile mutation, presenting with severe executive dysfunction and myoclonic tremor, associated with memory loss.
|
22531416 |
2012 |
|
rs761592007
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Variable expression of familial Alzheimer disease associated with presenilin 2 mutation M239I.
|
10822446 |
2000 |
|
rs779569800
|
|
|
0.010 |
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 |
|
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 |
|
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 |
|
rs63750264
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In familial Alzheimer's disease (FAD), three missense mutations, V642I, V642F and V642G, that co-segregate with the disease phenotype have been discovered in the 695 amino acid form of the amyloid precursor protein APP.
|
9305632 |
1997 |
|
rs63750264
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Dermal fibroblasts were obtained from a 55 year old male Сaucasian familial Alzheimer's disease (AD) patient carrying heterozygous V717I mutation in the APP gene.
|
30851551 |
2019 |
|
rs63750264
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A novel factor, termed Humanin (HN), antagonizes against neurotoxicity by various types of familial Alzheimer's disease (AD) genes [V642I and K595N/M596L (NL) mutants of amyloid precursor protein (APP), M146L-presenilin (PS) 1, and N141I-PS2] and by Abeta1-43 with clear action specificity ineffective on neurotoxicity by polyglutamine repeat Q79 or superoxide dismutase 1 mutants.
|
11717357 |
2001 |
|
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 |
|
rs63750264
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Two novel variants (APP: p.D244G, p.K687Q), 3 variants not previously associated with FAD (APP: p.T297M, p.D332G; PSEN1: p.R157S), and 7 previously reported pathogenic variants (APP: p.V717I; PSEN1: p.M139I, p.T147I, p.L173W, p.F177S, p.R269H; PSEN2: p.V139M) were identified.
|
30598257 |
2019 |
|
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 |
|
rs63750264
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Further, overexpression of the SUMO E2 enzyme ubc9 along with SUMO-1 results in decreased levels of Abeta aggregates in cells transfected with the familial Alzheimer's disease-associated V642F mutant APP, indicating the potential of up-regulating activity of the cellular sumoylation machinery as an approach against Alzheimer's disease.
|
18675254 |
2008 |
|
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 |
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 |
|
rs572842823
|
|
|
0.070 |
GeneticVariation |
BEFREE |
We report a novel gene, designated Humanin (HN) cDNA, that suppresses neuronal cell death by K595N/M596L-APP (NL-APP), a mutant causing familial Alzheimer's disease (FAD), termed Swedish mutant.
|
11327724 |
2001 |
|
rs572842823
|
|
|
0.070 |
GeneticVariation |
BEFREE |
These over-express human beta APP(swe), beta-amyloid precursor protein (beta-APP) containing the K670N/M671L 'Swedish' familial Alzheimer's disease (FAD) mutation.
|
15312963 |
2004 |
|
rs572842823
|
|
|
0.070 |
GeneticVariation |
BEFREE |
In familial Alzheimer's disease (FAD), the APP gene harbors pathogenic variations such as the Swedish (K670N/M671L), Leuven (E682K), and A673V mutations, all of which decrease Aβ(11-40) generation, whereas the protective Icelandic mutation (A673T) increases generation of Aβ(11-40).
|
27687728 |
2016 |
|
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 |
To accurately examine the effect of missense mutations on APP metabolism and A beta production in vivo, we have introduced yeast artificial chromosomes (YACs) containing the entire approximately 400 kbp human APP gene encoding APP harboring either the asparagine for lysine and leucine for methionine FAD substitution at codons 670 and 671 (APP(K670N/M671L)), the isoleucine for valine FAD substitution at codon 717 (APP(V7171)) or a combination of both substitutions into transgenic mice.
|
9285791 |
1997 |
|
rs572842823
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Only the Swedish familial Alzheimer's disease mutation (K595N/M596L) strongly increases A beta production.
|
7695913 |
1995 |
|
rs572842823
|
|
|
0.070 |
GeneticVariation |
BEFREE |
A novel factor, termed Humanin (HN), antagonizes against neurotoxicity by various types of familial Alzheimer's disease (AD) genes [V642I and K595N/M596L (NL) mutants of amyloid precursor protein (APP), M146L-presenilin (PS) 1, and N141I-PS2] and by Abeta1-43 with clear action specificity ineffective on neurotoxicity by polyglutamine repeat Q79 or superoxide dismutase 1 mutants.
|
11717357 |
2001 |
|
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 |
|
rs371425292
|
|
|
0.060 |
GeneticVariation |
BEFREE |
To accurately examine the effect of missense mutations on APP metabolism and A beta production in vivo, we have introduced yeast artificial chromosomes (YACs) containing the entire approximately 400 kbp human APP gene encoding APP harboring either the asparagine for lysine and leucine for methionine FAD substitution at codons 670 and 671 (APP(K670N/M671L)), the isoleucine for valine FAD substitution at codon 717 (APP(V7171)) or a combination of both substitutions into transgenic mice.
|
9285791 |
1997 |
|
rs371425292
|
|
|
0.060 |
GeneticVariation |
BEFREE |
These over-express human beta APP(swe), beta-amyloid precursor protein (beta-APP) containing the K670N/M671L 'Swedish' familial Alzheimer's disease (FAD) mutation.
|
15312963 |
2004 |
|
rs371425292
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Only the Swedish familial Alzheimer's disease mutation (K595N/M596L) strongly increases A beta production.
|
7695913 |
1995 |