|
rs63750756
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy.
|
10412802 |
1999 |
|
rs63750512
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Tau gene mutation G389R causes a tauopathy with abundant pick body-like inclusions and axonal deposits.
|
10604746 |
1999 |
|
rs63750512
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Progress in hereditary tauopathies: a mutation in the Tau gene (G389R) causes a Pick disease-like syndrome.
|
11193177 |
2000 |
|
rs63750129
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Tau gene mutation K257T causes a tauopathy similar to Pick's disease.
|
11089577 |
2000 |
|
rs63751273
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Because the mutations (V337M, P301L) are associated with genetic tauopathies, these results suggest that a factor in disease etiology of genetic tauopathies and other dementias with altered tau is a greater abundance of tau in the cytoplasm due to decreased binding to microtubules.
|
11170176 |
2001 |
|
rs63751273
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Together, our results show that expression of the P301L mutation in mice causes neuronal lesions that are similar to those seen in human tauopathies.
|
11013246 |
2001 |
|
rs63750570
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Because the mutations (V337M, P301L) are associated with genetic tauopathies, these results suggest that a factor in disease etiology of genetic tauopathies and other dementias with altered tau is a greater abundance of tau in the cytoplasm due to decreased binding to microtubules.
|
11170176 |
2001 |
|
rs63751273
|
|
|
0.100 |
GeneticVariation |
BEFREE |
P301L tauopathy: confocal immunofluorescence study of perinuclear aggregation of the mutated protein.
|
12127682 |
2002 |
|
rs63750424
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The R406W tau mutation found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) causes a hereditary tauopathy clinically resembling Alzheimer's disease.
|
12368474 |
2002 |
|
rs63750635
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease.
|
11891833 |
2002 |
|
rs760073870
|
|
|
0.010 |
GeneticVariation |
BEFREE |
P301L tauopathy: confocal immunofluorescence study of perinuclear aggregation of the mutated protein.
|
12127682 |
2002 |
|
rs63751273
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The tauopathy in P301L and G272V does not appear to be associated with an evident increase in CSF levels of Ptau-181 in FTD patients with these tau mutations, in contrast with findings in patients with AD.
|
12975285 |
2003 |
|
rs1189501362
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These findings indicate that the major sites of tau phosphorylation, and the expression of kinases involved in tau phosphorylation are active in P310L mutation as in AD and other tauopathies.
|
14757934 |
2003 |
|
rs1205185774
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These findings indicate that the major sites of tau phosphorylation, and the expression of kinases involved in tau phosphorylation are active in P310L mutation as in AD and other tauopathies.
|
14757934 |
2003 |
|
rs1235948930
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These findings indicate that the major sites of tau phosphorylation, and the expression of kinases involved in tau phosphorylation are active in P310L mutation as in AD and other tauopathies.
|
14757934 |
2003 |
|
rs63750349
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The L266V tau mutation is associated with frontotemporal dementia and Pick-like 3R and 4R tauopathy.
|
12883828 |
2003 |
|
rs63750376
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The tauopathy in P301L and G272V does not appear to be associated with an evident increase in CSF levels of Ptau-181 in FTD patients with these tau mutations, in contrast with findings in patients with AD.
|
12975285 |
2003 |
|
rs866604606
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These findings indicate that the major sites of tau phosphorylation, and the expression of kinases involved in tau phosphorylation are active in P310L mutation as in AD and other tauopathies.
|
14757934 |
2003 |
|
rs63750424
|
|
|
0.070 |
GeneticVariation |
BEFREE |
To examine the effects of tau gene mutations and the role of tau abnormalities in neurodegenerative tauopathies, transgenic (Tg) mice were engineered to express the longest human tau isoform (T40) with or without the R406W mutation (RW and hWT Tg mice, respectively) that is pathogenic for FTDP-17 in several kindreds.
|
15140937 |
2004 |
|
rs63751273
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Lastly, we have demonstrated that tau is phosphorylated on Tyr-18 in the tau P301L mouse model for tauopathy (JNPL3).
|
16115884 |
2005 |
|
rs63750424
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Mutant R406W human tau was originally identified in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) and causes a hereditary tauopathy that clinically resembles Alzheimer's disease (AD).
|
16182262 |
2005 |
|
rs63750756
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The behavioral phenotype of N279K mice mimics features of human FTDP-17 and provides a basic model for elucidating mechanisms underlying cognitive deficits in not only FTDP-17, but also diverse tauopathies.
|
16219306 |
2005 |
|
rs1386984902
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Remarkably, while Tau-P301L mice die before age 1 year, the APP-V717IxTau-P301L double tg mice survive much longer, which correlates with alleviation of tauopathy in hindbrain, despite aggravation in forebrain.
|
17028556 |
2006 |
|
rs63750756
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The tau N279K exon 10 splicing mutation recapitulates frontotemporal dementia and parkinsonism linked to chromosome 17 tauopathy in a mouse model.
|
17715352 |
2007 |
|
rs63751273
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Thus, Pin1 has opposite effects on the tauopathy</span> p</span>henotype depending on whether the tau is WT or a P301L mu</span>tant, indicating the need for disease-specific therapies for tauopathies.
|
18431510 |
2008 |