rs63750264
|
|
|
0.900 |
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
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In this study, a novel mutation in APP gene, Val669Leu ("Seoul APP"), was reported in a Korean female patient with Alzheimer's disease.
|
31623876 |
2019 |
rs63750264
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In this study, we utilized two animal models of AD to examine and characterize the AD-associated pathology: the Tg2576 Swedish APP (KM670/671NL) and TgCRND8 Swedish plus Indiana APP (KM670/671NL + V717F) lines.
|
30189875 |
2018 |
rs63750264
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Clinical characterization of an APP mutation (V717I) in five Han Chinese families with early-onset Alzheimer's disease.
|
27838006 |
2017 |
rs63750264
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Alterations in endocytic protein expression with increasing age in the transgenic APP695 V717I London mouse model of amyloid pathology: implications for Alzheimer's disease.
|
28885485 |
2017 |
rs63750264
|
|
|
0.900 |
GeneticVariation |
BEFREE |
To probe for a function of ABCA7 in vivo, we crossed Abca7(-/-) mice with J20 mice, an amyloidogenic transgenic AD mouse model [B6.Cg-Tg(PDGFB-APPSwInd)20Lms/J] expressing a mutant form of human APP bearing both the Swedish (K670N/M671L) and Indiana (V717F) familial AD mutations.
|
26517904 |
2015 |
rs63750264
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia: recommendations for family physicians.
|
24829003 |
2014 |
rs63750264
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
The familial Alzheimer's disease APPV717I mutation alters APP processing and Tau expression in iPSC-derived neurons.
|
24524897 |
2014 |
rs63750264
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Mutational analysis in early-onset familial Alzheimer's disease in Mainland China.
|
24650794 |
2014 |
rs63750264
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Early-onset Alzheimer's disease in two Iranian families: a genetic study.
|
25138979 |
2014 |
rs63750264
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In this study, we report a 275341 G > C (Val717Leu) mutation in the APP gene in a Japanese family with early onset AD by genetic screening.
|
22702962 |
2012 |
rs63750264
|
|
|
0.900 |
GeneticVariation |
BEFREE |
An early-onset AD transgenic mouse model expressing the double-mutant form of human amyloid precursor protein (APP); Swedish (K670N/M671L) and Indiana (V717F), corroborated in vitro findings by showing lower levels of Aβ and amyloid plaques in the brain, when they were fed a low fat diet enriched in DHA.
|
20971855 |
2011 |
rs63750264
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
EFNS guidelines for the diagnosis and management of Alzheimer's disease.
|
20831773 |
2010 |
rs63750264
|
|
|
0.900 |
GeneticVariation |
BEFREE |
To investigate the regulatory genes responsible for the neuropathology in AD, we performed microarray analysis with APP(V717I)-CT100 transgenic mice, an animal model of AD, and isolated the S100a9 gene, which encodes an inflammation-associated calcium binding protein.
|
20098622 |
2010 |
rs63750264
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Preventing Alzheimer's disease and cognitive decline.
|
21500874 |
2010 |
rs63750264
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We recently demonstrated that overexpression of ADAM10 in mice transgenic for human AbetaPP (ADAM10 x APP[V717I]) alleviated functional deficits related to Alzheimer's disease.
|
19221420 |
2009 |
rs63750264
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Mutations in amyloid precursor protein affect its interactions with presenilin/gamma-secretase.
|
19281847 |
2009 |
rs63750264
|
|
|
0.900 |
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
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Levels of both APP-BP1 and Rab5 are elevated in early endosomes in cortical embryonic neurons expressing APP(V642I) or APP-BP1, in cultured skin fibroblast cells from Down syndrome subjects, and in postmortem hippocampal tissue of individuals with AD.
|
17611268 |
2007 |
rs63750264
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Novel mutations and repeated findings of mutations in familial Alzheimer disease.
|
15776278 |
2005 |
rs63750264
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We report the effects of amyloid precursor protein (APP) fragment 714-723 (APP(714-723); peptide P1) and its V717F and V717G mutants (peptides P2 and P3, respectively) on G-protein activity ([35S]GTPgammaS binding) in membranes from postmortem human control and Alzheimer's disease (AD) brains.
|
15614786 |
2005 |
rs63750264
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Novel mutations and repeated findings of mutations in familial Alzheimer disease.
|
15776278 |
2005 |
rs63750264
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In a "combined" model, expressing both tau(V337M) and the familial amyloid precursor protein AD mutation APP(V717I) in a CT100 fragment, age-dependent tau phosphorylation occurred at the same sites and was significantly augmented compared to "single" tau(V337M) mice.
|
15601849 |
2005 |
rs63750264
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Transgenic mice over-expressing a mutated form of the human amyloid precursor protein (APP, 695 isoform) bearing a mutation associated with Alzheimer's disease (V642I, so-called London mutation, hereafter APPLd2) and wild-type controls were studied at age periods (3 and 10 months) prior to the overt development of neuritic amyloid plaques.
|
15380017 |
2004 |
rs63750264
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Here we report on a transgenic mouse line, named Tg-APP (Sw, V717F)/B6, that expresses the human amyloid precursor protein (APP) containing the Swedish and the V717F Indiana mutations in the brains of inbred C57BL/6 mice, designed to eliminate the potential phenotypic variations attributed to the compound genetic backgrounds adopted in most AD mouse models.
|
15114629 |
2004 |