Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Pick Disease of the Brain
|
0.800 | GeneticVariation | BEFREE | A unique common ancestor introduced P301L mutation in MAPT gene in frontotemporal dementia patients from Barcelona (Baix Llobregat, Spain). | 31537395 | 2019 | |||||
Pick Disease of the Brain
|
0.800 | GeneticVariation | BEFREE | Remarkably, the P301L mutation, related to frontotemporal dementia FTDP-17, impairs this mechanism leading to a loss of function. | 30664870 | 2019 | |||||
Pick Disease of the Brain
|
0.800 | GeneticVariation | BEFREE | Clinicopathologic heterogeneity in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) due to microtubule-associated protein tau (MAPT) p.P301L mutation, including a patient with globular glial tauopathy. | 27859539 | 2017 | |||||
Pick Disease of the Brain
|
0.800 | GeneticVariation | BEFREE | Gene expression studies of cytokines and mediators of the immune response have been made in post-mortem human brain samples in AD, sPD, sporadic Creutzfeldt-Jakob disease (sCJD) subtypes MM1 and VV2, Pick's disease (PiD), progressive supranuclear palsy (PSP) and frontotemporal lobar degeneration linked to mutation P301L in MAPT Frontotemporal lobar degeneration-tau (FTLD-tau). | 26861289 | 2016 | |||||
Pick Disease of the Brain
|
0.800 | GeneticVariation | BEFREE | The soluble fractalkine overexpression with adenoviral vectors reduced tau pathology and prevented neurodegeneration in a Tg4510 model of taupathy Finally, animals with Aβ (1-42) infused by lentivirus (cortex) or mice with the P301L mutation (frontotemporal dementia) had caspase-3 activation (8-fold) and higher proinflammatory TNF alpha levels and p-Tau deposits at 4 weeks postinfusion. | 26567742 | 2016 | |||||
Pick Disease of the Brain
|
0.800 | GeneticVariation | BEFREE | Then, we investigated if an altered tau, such as the P301L mutated protein associated with frontotemporal dementia, could produce nuclear pathology. | 18583940 | 2008 | |||||
Pick Disease of the Brain
|
0.800 | GeneticVariation | BEFREE | Frontotemporal dementia: impact of P301L tau mutation on a healthy carrier. | 15489396 | 2004 | |||||
Pick Disease of the Brain
|
0.800 | GeneticVariation | BEFREE | Total tau and phosphorylated tau 181 levels in the cerebrospinal fluid of patients with frontotemporal dementia due to P301L and G272V tau mutations. | 12975285 | 2003 | |||||
Pick Disease of the Brain
|
0.800 | GeneticVariation | BEFREE | Contrasting genotypes of the tau gene in two phenotypically distinct patients with P301L mutation of frontotemporal dementia and parkinsonism linked to chromosome 17. | 12111297 | 2002 | |||||
Pick Disease of the Brain
|
0.800 | GeneticVariation | BEFREE | A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L) | 10219785 | 1999 | |||||
Pick Disease of the Brain
|
0.800 | GeneticVariation | BEFREE | The Pro301Leu mutation was not observed in either 50 unrelated French controls or in 11 patients with sporadic frontotemporal dementia. | 9736786 | 1998 | |||||
Pick Disease of the Brain
|
0.800 | CausalMutation | CLINVAR |