Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751438
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

dbSNP: rs63751438
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

dbSNP: rs63751438
rs63751438
0.900 GeneticVariation BEFREE The P301S mutation linked to frontotemporal dementia causes tau aggregation and rapidly progressing motor deficits. 29051562

2017

dbSNP: rs63751438
rs63751438
0.900 GeneticVariation BEFREE Taken together, neuropathological and behavioral changes in P301S tau transgenic mice resemble features of human FTD. 27521751

2016

dbSNP: rs63751438
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

dbSNP: rs63751438
rs63751438
0.900 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010

dbSNP: rs63751438
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

dbSNP: rs63751438
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

dbSNP: rs63751438
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

dbSNP: rs63751438
rs63751438
0.900 GeneticVariation BEFREE Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family. 12796837

2003

dbSNP: rs63751438
rs63751438
0.900 GeneticVariation BEFREE Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau. 10374757

1999

dbSNP: rs63751438
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

dbSNP: rs63751438
rs63751438
T 0.900 CausalMutation CLINVAR