|
rs1015909000
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Influence of the familial Alzheimer's disease-associated T43I mutation on the transmembrane structure and γ-secretase processing of the C99 peptide.
|
30755484 |
2019 |
|
rs10524523
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We investigated the association between TOMM40 rs10524523, age of onset, and memory performance in patients with the PSEN1 M146L mutation in a large familial Alzheimer's disease Calabrian kindred, with a wide variability of onset not attributable to APOE.
|
23792692 |
2013 |
|
rs115865530
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The K311R mutation might contribute to AD pathogenesis by overproducing toxic Aβ species and enhancing tau phosphorylation.
|
28269784 |
2017 |
|
rs1179768627
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The L235R mutation had not been previously reported, although other mutations in the same residue have also been associated with familial early-onset AD, providing support for the importance of this residue for the presenilin-1 function.
|
21501661 |
2011 |
|
rs1215971988
|
|
|
0.010 |
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 |
|
rs121917808
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We discovered that L166P, A246E, E273A, G384A, and P436Q FAD mutations in PS1 abolished ER Ca(2+) leak function of PS1.
|
17431506 |
2007 |
|
rs1220355764
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report the generation and characterization of an iPSC line derived from a FAD patient carrying the PSEN1-G206D mutation.
|
31627126 |
2019 |
|
rs1223904774
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To investigate the factors that drive the Abeta42/Abeta40 ratio and amyloid pathogenesis and to investigate the possible interactions between wild-type and FAD mutant PS1, which are co-expressed in transgenic animals, we expressed the PS1 M146V knock-in allele either on wild-type PS1 (PS1M146V/+) or PS1 null (PS1M146V/-) background and crossed these alleles with the Tg2576 APP transgenic mice.
|
16574645 |
2006 |
|
rs1231783932
|
|
|
0.050 |
GeneticVariation |
BEFREE |
These in vitro results were confirmed by in vivo experiments in transgenic mice expressing the PS2 N141I FAD mutant.
|
17962197 |
2008 |
|
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 |
|
rs1231783932
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Functional analysis of such cleavage defective PS2 carrying the FAD mutation Asn-141 --> Ile showed that its Abeta42 producing activity was strongly reduced compared with cleavage-competent FAD PS2.
|
10575009 |
1999 |
|
rs1231783932
|
|
|
0.050 |
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 |
|
rs1231783932
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The present study investigated the influence of two familial Alzheimer's-disease-linked presenilin2 variants (N141I and M239V) and a loss-of-function presenilin2 mutant (D263A) on the activity of the transient receptor potential canonical (TRPC)6 Ca(2+) entry channel.
|
15601622 |
2005 |
|
rs1281129992
|
|
|
0.010 |
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 |
|
rs1302192564
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Cosegregegation analysis and the structural as well as the presumed functional role of the mutated and highly conserved residue suggest FAD causing characteristics of the novel PSEN1 mutation Ala275Val.
|
24582897 |
2014 |
|
rs1307925400
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the presence of PS1-FAD mutations, the effects of G33A were attenuated, apparently attributable to a different mechanism of PS1-FAD mutants compared with APP-FAD mutants.
|
20452985 |
2010 |
|
rs1347585131
|
|
|
0.010 |
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 |
|
rs1348800465
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Novel PSEN1 mutations (H214N and R220P) associated with familial Alzheimer's disease identified by targeted exome sequencing.
|
26925509 |
2016 |
|
rs139155954
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genetic Modifiers of Age at Onset in Carriers of the G206A Mutation in PSEN1 With Familial Alzheimer Disease Among Caribbean Hispanics.
|
26214276 |
2015 |
|
rs1393704451
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genetic Modifiers of Age at Onset in Carriers of the G206A Mutation in PSEN1 With Familial Alzheimer Disease Among Caribbean Hispanics.
|
26214276 |
2015 |
|
rs1396086494
|
|
|
0.010 |
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 |
|
rs140501902
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified in breast cancer cases two germline alterations, R62H and R71W, in presenilin-2 (PS-2), a gene involved in familial Alzheimer's disease (FAD).
|
16474849 |
2006 |
|
rs1451944248
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Cosegregegation analysis and the structural as well as the presumed functional role of the mutated and highly conserved residue suggest FAD causing characteristics of the novel PSEN1 mutation Ala275Val.
|
24582897 |
2014 |
|
rs1459435816
|
|
|
0.010 |
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 |
|
rs1482790603
|
|
|
0.010 |
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 |