Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our results, suggest that a p.(Gly145Trp)-induced structural disturbance and functional impairment of TREM2 may contribute to the pathogenesis of an AD-like form of dementia.
|
31464095 |
2020 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel homozygous mutation in TREM2 found in a Chinese early-onset dementia family with mild bone involvement.
|
30797549 |
2020 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recently, soluble fragments of the triggering receptor expressed on myeloid cells 2 (sTREM2) protein in CSF have been reported to be increased in prodromal AD and also in individuals with TREM2 rare genetic variants that increase the likelihood of developing dementia.
|
31779670 |
2019 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
TREM2 variant carriers showed a 23% faster rate of dementia compared with non-variant carriers.
|
29480181 |
2018 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
BEFREE |
We reveal an unexpected potential role of Trem2 in the homeostasis of endothelial cells that goes beyond its known functions as a microglial receptor and signaling hub, suggesting an underlying link between immune response and vascular disease in dementia.
|
29906661 |
2018 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Plasma membrane receptors play primary roles as activators of microglia and in this review, we focus on a receptor complex involving triggering receptor expressed on myeloid cells 2 (TREM2) and DNAX-activating protein of 12 kDa (DAP12), both of which are causative genes for Nasu-Hakola disease, a dementia with bone cysts.
|
30127720 |
2018 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Triggering receptor expressed on myeloid cells 2 (TREM2) is linked to dementia and neurodegenerative disease.
|
30390679 |
2018 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in TREM2 cause Nasu-Hakola disease (NHD), a rare genetic disease characterized by early-onset dementia with leukoencephalopathy and bone cysts.
|
29720600 |
2018 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
CTD_human |
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
|
28714976 |
2017 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Low frequency coding variants in TREM2 are associated with increased Alzheimer disease (AD) risk, while loss of functions mutations in the gene lead to an autosomal recessive early-onset dementia, named Nasu-Hakola disease (NHD).
|
26754641 |
2016 |
Presenile dementia
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The selective expression of TREM2 on immune cells and its association with different forms of dementia indicate a contribution of this receptor in common pathways of neurodegeneration.
|
26694609 |
2016 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Individuals homozygous for inactivating mutations in TREM2 exhibit demyelination of subcortical white matter and a lethal early onset dementia known as Nasu-Hakola disease.
|
25893602 |
2015 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
CTD_human |
Evidence of trem2 variant associated with triple risk of Alzheimer's disease.
|
24663666 |
2014 |
Presenile dementia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our results show that TREM2 is responsible for an unexpectedly high number of dementia cases in our cohort, suggesting that this gene should be taken into account when mutations in other dementia genes are excluded.
|
23318515 |
2013 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Homozygous loss-of-function mutations in TREM2, encoding the triggering receptor expressed on myeloid cells 2 protein, have previously been associated with an autosomal recessive form of early-onset dementia.
|
23150934 |
2013 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These data suggest that a mutational burden in TREM2 may serve as a risk factor for neurodegenerative disease in general, and that potentially this class of TREM2 variant carriers with dementia should be considered as having a molecularly distinct form of neurodegenerative disease.
|
23582655 |
2013 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in TREM2 lead to pure early-onset dementia without bone cysts.
|
18546367 |
2008 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In this paper, we have studied polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), an early onset dementia with bone fractures caused by mutations in TYROBP (DAP12) and TREM2 genes, which encode important signaling molecules in human dendritic cells (DCs).
|
17530208 |
2007 |
Presenile dementia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recently, it has been shown that genetic defects of human DAP12/KARAP and TREM-2 result in a rare syndrome characterized by bone cysts and presenile dementia called Nasu-Hakola disease.
|
12913093 |
2003 |