rs63751273, MAPT

N. diseases: 42
Disease: Impaired cognition ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
0.040 GeneticVariation BEFREE Unexpectedly, we found that 4R NM human tau (hTau) exhibited abnormal dynamics in young mice that were lost with the P301L mutation, including elevated protein stability and hyperphosphorylation, which were associated with cognitive impairment in 5-month old rT1 mice. 31685653 2020
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
0.040 GeneticVariation BEFREE Longitudinal evaluation of Tau-P301L transgenic mice reveals no cognitive impairments at 17 months of age. 29568692 2018
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
0.040 GeneticVariation BEFREE Altogether, these results suggest a sex dependent neuroprotective effect of LFPD in P301L-tg mice, suggesting that lifestyle intervention strategies may be clinically relevant for delaying the onset of cognitive impairment and dementia, especially in females. 28456717 2017
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
0.040 GeneticVariation BEFREE Here, we studied the effects of P301L hTau transduction in the medial EC (MEC) of mice on tau phosphorylation and accumulation, and cognitive deficit. 28634382 2017