|
LEUKODYSTROPHY, HYPOMYELINATING, 16
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.
|
29186371 |
2017 |
|
LEUKODYSTROPHY, HYPOMYELINATING, 16
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.
|
29186371 |
2017 |
|
LEUKODYSTROPHY, HYPOMYELINATING, 16
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
LEUKODYSTROPHY, HYPOMYELINATING, 16
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot.
|
29444210 |
2018 |
|
LEUKODYSTROPHY, HYPOMYELINATING, 16
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
LEUKODYSTROPHY, HYPOMYELINATING, 16
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot.
|
29444210 |
2018 |
|
LEUKODYSTROPHY, HYPOMYELINATING, 16
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.
|
29186371 |
2017 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Common variants in TMEM106B serve as a distinct risk factor for TDP-43 pathology in older persons without FTLD.
|
25653292 |
2015 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
These findings suggest that the up-regulation of TMEM106B may increase the risk of FTLD by directly causing neurotoxicity and a pathological phenotype linked to FTLD-TDP.
|
27563066 |
2016 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In contrast, the HpScl groups (HpScl and HpScl-AD) were more likely to exhibit genetic variants in GRN and TMEM106B that are associated with frontotemporal lobar degeneration.
|
24899141 |
2014 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recent large genome-wide association studies have found variants in TMEM106B (top SNP rs1990622) as a strong risk factor for frontotemporal lobar degeneration.
|
24166182 |
2014 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Transmembrane Protein 106B SNP rs1990622 was recently shown to modify the risk of frontotemporal lobar degeneration with TDP-43 inclusions (FTD-TDP).
|
25096617 |
2015 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
TMEM106B-related and GFRA2-related pathways might be future targets for treatments for FTLD, but the biological interaction between progranulin and these potential disease modifiers requires further study.
|
29724592 |
2018 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Remarkably, Tmem106b deletion from Grn<sup>-/-</sup> mice normalizes lysosomal protein levels and rescues FTLD-related behavioral abnormalities and retinal degeneration without improving lipofuscin, C1q, and microglial accumulation.
|
28728022 |
2017 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations and C9orf72 repeat expansions.
|
25085782 |
2014 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Membrane orientation and subcellular localization of transmembrane protein 106B (TMEM106B), a major risk factor for frontotemporal lobar degeneration.
|
22511793 |
2012 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
Biomarker
|
disease |
CTD_human |
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.
|
20154673 |
2010 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
In line with a potential pathological overlap of FTLD and NCL, Ctsd(-/-) mice, a model for NCL, show elevated levels of the FTLD-associated proteins GRN and TMEM106B.
|
24619111 |
2014 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
TMEM106B has recently been identified as a genetic risk factor for frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP).
|
21104415 |
2011 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We investigated the rs1990622 polymorphism in relation to regional brain volumes to identify potential structures through which TMEM106B confers risk for frontotemporal lobar degeneration.
|
24731779 |
2014 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
Biomarker
|
disease |
BEFREE |
Thus, TMEM106B is a genetic modifier of FTLD with C9orf72 expansions.
|
24442578 |
2014 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
To mimic elevated levels of TMEM106B in frontotemporal lobar degeneration (FTLD) cases, we generated transgenic mice expressing TMEM106B under the neuronal specific promoter, CamKII.
|
28126008 |
2017 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Expression of TMEM106B, the frontotemporal lobar degeneration-associated protein, in normal and diseased human brain.
|
24252750 |
2013 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This variant is in high LD with the TMEM106B non-synonymous variant p.T185S (rs3173615; r<sup>2</sup> = 0.98) which was previously identified as a protective variant for frontotemporal lobar degeneration (FTLD).
|
31456032 |
2020 |
|
Frontotemporal Lobar Degeneration
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We further identified a significant association of TMEM106B SNPs with plasma GRN levels in controls (top SNP rs1990622, corrected p = 0.002) and in peripheral blood samples a highly significant correlation was observed between TMEM106B and GRN mRNA expression in patients with FTLD (r = -0.63, p = 7.7 × 10(-5)) and controls (r = -0.49, p = 2.2 × 10(-10)).
|
21178100 |
2011 |