Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751438
rs63751438
0.080 GeneticVariation BEFREE The P301S mutation linked to frontotemporal dementia causes tau aggregation and rapidly progressing motor deficits. 29051562

2017

dbSNP: rs63751438
rs63751438
0.080 GeneticVariation BEFREE Disinhibition-like behavior in a P301S mutant tau transgenic mouse model of frontotemporal dementia. 27521751

2016

dbSNP: rs63751438
rs63751438
0.080 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
0.080 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
0.080 GeneticVariation BEFREE Here we show that (trans,trans)-1-fluoro-2,5-bis(3-hydroxycarbonyl-4-hydroxy)styrylbenzene (FSB), a fluorescent Congo red derivative, labels tau inclusions in tissue sections from a mouse line transgenic for human P301S tau and in cases of familial frontotemporal dementia and sporadic Pick's disease. 18291106

2008

dbSNP: rs63751438
rs63751438
0.080 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
0.080 GeneticVariation BEFREE Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family. 12796837

2003

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

1999