rs63751438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In the present study, we used mice transgenic for human tau with the frontotemporal dementia with parkinsonism-associated P301S mutation.
|
30847469 |
2019 |
rs63751438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We have previously recapitulated aspects of human FTD in mouse models by overexpressing mutant human tau in CNS neurons, including a P301S tau variant in TAU58/2 mice, characterized by early-onset and progressive behavioral deficits and FTD-like neuropathology.
|
31366728 |
2019 |
rs63751438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The P301S mutation linked to frontotemporal dementia causes tau aggregation and rapidly progressing motor deficits.
|
29051562 |
2017 |
rs63751438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Taken together, neuropathological and behavioral changes in P301S tau transgenic mice resemble features of human FTD.
|
27521751 |
2016 |
rs63751438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
To investigate the occurrence of neuroinflammatory changes in the brain of a patient affected by FTDP-17T associated with the P301S mutation and showing a frontotemporal dementia phenotype as well as in the brain of a patient affected by another FTDP-17T phenotype: multiple system tauopathy with presenile dementia.
|
21212632 |
2011 |
rs63751438
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
|
20298421 |
2010 |
rs63751438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Here we show that a previously described mouse line transgenic for human P301S tau exhibits an age-related, layer-specific loss of superficial cortical neurons, similar to what has been observed in human frontotemporal dementias.
|
20668182 |
2010 |
rs63751438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Our strategy was to use the natural tau promoter for expressing the human-tau (htau) gene with two mutations K257T/P301S (double mutant, DM) associated with severe phenotypes of frontotemporal-dementia in humans.
|
18490011 |
2008 |
rs63751438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation.
|
17318302 |
2007 |
rs63751438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family.
|
12796837 |
2003 |
rs63751438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau.
|
10374757 |
1999 |
rs63751438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The association of this early-onset phenotype with P301S mutation is not entirely consistent with current criteria for the diagnosis of frontotemporal dementias and may encourage the search for tau mutations in diseases similar but not identical to FTDP-17.
|
10553987 |
1999 |
rs63751438
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
|
|
|