rs1799945
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We have focused on the commonly occurring H63D variant of the HFE gene as a disease modifier in a number of neurodegenerative diseases.
|
29315562 |
2018 |
rs1799945
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The R<sub>2</sub> changes observed in both the human-H63D and mouse-H67D data suggest that modified white matter myelination is occurring in subjects with HFE mutations, potentially increasing vulnerability to neurodegenerative disorders.
|
26660104 |
2016 |
rs1799945
|
|
|
0.100 |
GeneticVariation |
BEFREE |
These results suggest okra may be beneficial in people expressing the H63D variant to reduce the risk of AD and other neurodegenerative diseases related to oxidative stress.
|
26170247 |
2015 |
rs1799945
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The H67D knock-in mouse can be used as a model to evaluate how the H63D HFE mutation contributes to neurodegenerative diseases.
|
23429074 |
2013 |
rs1799945
|
|
|
0.100 |
GeneticVariation |
BEFREE |
H63D HFE polymorphisms increase the risk of neurodegenerative disorders and, specifically, may increase amyotrophic lateral sclerosis (ALS) risk.
|
23813494 |
2013 |
rs1799945
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The H63D HFE genetic variant has been repeatedly associated with a number of neurodegenerative diseases.
|
19560233 |
2011 |
rs1799945
|
|
|
0.100 |
GeneticVariation |
BEFREE |
At the cellular level, the HFE mutant protein resulting from the H63D HFE gene variant is associated with iron dyshomeostasis, increased oxidative stress, glutamate release, tau phosphorylation, and alteration in inflammatory response, each of which is under investigation as a contributing factor to neurodegenerative diseases.
|
21346098 |
2011 |
rs1799945
|
|
|
0.100 |
GeneticVariation |
BEFREE |
These changes may explain why C282Y-HFE is a risk factor for colon and breast cancer and possibly protective against Alzheimer's disease while H63D-HFE is a risk factor for neurodegenerative diseases.
|
21243428 |
2011 |
rs1799945
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A specific polymorphism in the hemochromatosis (HFE) gene, H63D, is over-represented in neurodegenerative disorders such as amyotrophic lateral sclerosis and Alzheimer disease.
|
21349849 |
2011 |
rs1799945
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The C282Y mutation is more frequently associated with Hemochromatosis and the frequency of the H63D mutation is receiving increasing attention in neurodegenerative disorders.
|
17119292 |
2006 |
rs75932628
|
|
|
0.070 |
GeneticVariation |
BEFREE |
However, we did not find evidence for association of the R47H variant with other neurodegenerative diseases.
|
31513029 |
2020 |
rs75932628
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Recent genome-wide association studies revealed TREM2 rs75932628-T variant to be associated with Alzheimer's disease (AD) and other neurodegenerative diseases.
|
27051467 |
2016 |
rs75932628
|
|
|
0.070 |
GeneticVariation |
BEFREE |
A rare variant in TREM2 (p.R47H, rs75932628) was recently reported to increase the risk of Alzheimer's disease (AD) and, subsequently, other neurodegenerative diseases, i.e. frontotemporal lobar degeneration (FTLD), amyotrophic lateral sclerosis (ALS), and Parkinson's disease (PD).
|
25936935 |
2015 |
rs75932628
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The R47H variant in the triggering receptor expressed on myeloid cells 2 gene (TREM2), a modulator of the immune response of microglia, is a strong genetic risk factor for Alzheimer disease (AD) and possibly other neurodegenerative disorders.
|
26076170 |
2015 |
rs75932628
|
|
|
0.070 |
GeneticVariation |
BEFREE |
TREM2 rs75932628 is unlikely to play a major role in the pathogenesis of these neurodegenerative diseases.
|
26058955 |
2015 |
rs75932628
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Recently, a rare missense variant (p.R47H) in the microglial activating gene TREM2 was found to increase the risk of several neurodegenerative diseases, including Alzheimer disease.
|
24535663 |
2014 |
rs75932628
|
|
|
0.070 |
GeneticVariation |
BEFREE |
With this in mind we set out to assess the genetic association of the Alzheimer's disease-related risk variant in TREM2 (rs75932628, p.R47H) with other related neurodegenerative disorders.
|
23800361 |
2013 |
rs121912438
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Recently a tissue-specific and selective upregulation of the multidrug efflux transporter ABCB1 or P-glycoprotein (P-gp) in the spinal cord of both patients and the mutant SOD1-G93A mouse model of amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease that prevalently kills motor neurons has been reported.
|
27158936 |
2016 |
rs121912438
|
|
|
0.050 |
GeneticVariation |
BEFREE |
We used SOD1(G93A) mice as a model, which exhibit the motor neuron-specific neurodegenerative disease, amyotrophic lateral sclerosis.
|
23470532 |
2013 |
rs121912438
|
|
|
0.050 |
GeneticVariation |
BEFREE |
We then analyzed molecular changes in microglia during neurodegenerative disease activation using the SOD1(G93A) mouse model of amyotrophic lateral sclerosis (ALS).
|
23850290 |
2013 |
rs121912438
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Transgenic mice carrying the G93A mutation of the superoxide dismutase 1 (SOD1) gene develop a neurodegenerative disease closely mimicking human ALS.
|
20450936 |
2010 |
rs121912438
|
|
|
0.050 |
GeneticVariation |
BEFREE |
These results show that in the SOD1(G93A) model of neurodegenerative diseases, the concentration of brain glutamate (determined with (1)H-MRS) can be lowered by inhibiting in vivo the synthesis of glutamine with non-toxic doses of MSO.
|
20060132 |
2010 |
rs6265
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Our findings suggest that BDNF Val66Met and sex should be considered in future endeavors aimed at treating or preventing neurodegenerative disorders.
|
30448615 |
2019 |
rs759834365
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Our findings suggest that BDNF Val66Met and sex should be considered in future endeavors aimed at treating or preventing neurodegenerative disorders.
|
30448615 |
2019 |
rs6265
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The common human Val66Met polymorphism of BDNF has been implicated in the pathophysiology of neuropsychiatric and neurodegenerative disorders, and in the outcome of pro-adaptive and therapeutic treatments.
|
30067287 |
2018 |