|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
BEFREE |
[<sup>11</sup> C]PBB3-PET can capture four-repeat tau pathologies characteristic of N279K mutant frontotemporal dementia and parkinsonism linked to chromosome 17/MAPT.
|
30773680 |
2019 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
BEFREE |
The N279K mutation is one of the three mutations more prevalent in FTDP-17 cases.
|
30050413 |
2018 |
|
Frontotemporal dementia
|
|
0.900 |
CausalMutation
|
CLINVAR |
GRN and MAPT Mutations in 2 Frontotemporal Dementia Research Centers in Brazil.
|
27082848 |
2017 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
BEFREE |
We utilized CRISPR/Cas9 genome editing in human induced pluripotent stem (iPS) cell-derived neural progenitor cells (NPCs) to repair the FTD-associated N279K MAPT mutation.
|
28256506 |
2017 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
BEFREE |
As a result, 2 novel mutations in MAPT (p.D177V and p.P513A) were identified in a sporadic and familial patient with PNFA respectively, and one known mutation in MAPT (p.N279K) was detected in an FTD-parkinsonism family.
|
27311648 |
2016 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
BEFREE |
We investigated the underlying disease mechanism associated with the N279K tau mutation using PPND/FTDP-17 patient-derived induced pluripotent stem cells (iPSCs) and autopsy brains.
|
26373282 |
2015 |
|
Frontotemporal dementia
|
|
0.900 |
CausalMutation
|
CLINVAR |
Early maturation and distinct tau pathology in induced pluripotent stem cell-derived neurons from patients with MAPT mutations.
|
26220942 |
2015 |
|
Frontotemporal dementia
|
|
0.900 |
CausalMutation
|
CLINVAR |
Consistently, the levels of intracellular/luminal vesicle and exosome marker flotillin-1 were significantly increased in frontal and temporal cortices of PPND/FTDP-17 patients with the N279K tau mutation, events that were not seen in the occipital cortex which is the most spared cortical region in the patients.
|
26373282 |
2015 |
|
Frontotemporal dementia
|
|
0.900 |
CausalMutation
|
CLINVAR |
Distinct Neurodegenerative Changes in an Induced Pluripotent Stem Cell Model of Frontotemporal Dementia Linked to Mutant TAU Protein.
|
26143746 |
2015 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Pallido-ponto-nigral degeneration (PPND), caused by an N279K mutation of the MAPT gene, is 1 of a family of disorders collectively referred to as frontotemporal dementia and parkinsonism linked to chromosome 17.
|
21681797 |
2011 |
|
Frontotemporal dementia
|
|
0.900 |
CausalMutation
|
CLINVAR |
Correction of tau mis-splicing caused by FTDP-17 MAPT mutations by spliceosome-mediated RNA trans-splicing.
|
19498037 |
2009 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
BEFREE |
The tau N279K exon 10 splicing mutation recapitulates frontotemporal dementia and parkinsonism linked to chromosome 17 tauopathy in a mouse model.
|
17715352 |
2007 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Here we show that Lrrk2 is closely associated with the tau-positive inclusions in eight members of a family with frontotemporal dementia of the pallido-ponto-nigral degeneration type linked to the chromosome 17 N279K tau mutation (N279K/FTDP-17/PPND).
|
17639429 |
2007 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
BEFREE |
The objective of this clinical-pathologic study was to identify biomarkers for a pallidopontonigral degeneration (PPND) kindred of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) harboring the N279K tau mutation.
|
17196872 |
2007 |
|
Frontotemporal dementia
|
|
0.900 |
CausalMutation
|
CLINVAR |
The tau N279K exon 10 splicing mutation recapitulates frontotemporal dementia and parkinsonism linked to chromosome 17 tauopathy in a mouse model.
|
17715352 |
2007 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Frontotemporal dementia and Parkinsonism linked to chromosome 17 with the N279K tau mutation.
|
17319286 |
2007 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease.
|
15883319 |
2005 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Phenotypic heterogeneity within a new family with the MAPT p301s mutation.
|
16240366 |
2005 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Increased exon 10 inclusion in FTDP mutant ENH (N279K) may arise from abolishing SRp30c binding.
|
15695522 |
2005 |
|
Frontotemporal dementia
|
|
0.900 |
CausalMutation
|
CLINVAR |
Transgenic mice expressing mutant (N279K) human tau show mutation dependent cognitive deficits without neurofibrillary tangle formation.
|
16219306 |
2005 |
|
Frontotemporal dementia
|
|
0.900 |
CausalMutation
|
CLINVAR |
A case of dementia parkinsonism resembling progressive supranuclear palsy due to mutation in the tau protein gene.
|
14568818 |
2003 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology.
|
12509859 |
2003 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe.
|
14517953 |
2003 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Clinical and genetic studies of families with the tau N279K mutation (FTDP-17).
|
12473774 |
2002 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Early-onset, rapidly progressive familial tauopathy with R406W mutation.
|
11889249 |
2002 |