|
Alzheimer Disease, Early Onset
|
|
0.010 |
GeneticVariation
|
BEFREE |
The Swedish mutation (K595N/M596L) of amyloid precursor protein (APP-swe) has been known to increase abnormal cleavage of cellular APP by Beta-secretase (BACE), which causes tau protein hyperphosphorylation and early-onset Alzheimer's disease (AD).
|
21034535 |
2010 |
|
Autonomic nervous system disorders
|
|
0.010 |
GeneticVariation
|
BEFREE |
Physiologic assessment of autonomic dysfunction in pallidopontonigral degeneration with N279K mutation in the tau gene on chromosome 17.
|
12492138 |
2002 |
|
Cognition Disorders
|
|
0.010 |
GeneticVariation
|
BEFREE |
The behavioral phenotype of N279K mice mimics features of human FTDP-17 and provides a basic model for elucidating mechanisms underlying cognitive deficits in not only FTDP-17, but also diverse tauopathies.
|
16219306 |
2005 |
|
Dementia
|
|
0.030 |
GeneticVariation
|
BEFREE |
However, exome sequencing identified a missense mutation, N279K, in exon 10 of MAPT gene, verifying that the early parkinsonian symptoms in this family are caused by the genetic mutation for hereditary frontotemporal lobar dementia.
|
26295349 |
2015 |
|
Dementia
|
|
0.030 |
GeneticVariation
|
BEFREE |
A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy.
|
10412802 |
1999 |
|
Dementia
|
|
0.030 |
GeneticVariation
|
BEFREE |
An N279K missense mutation in exon 10 of the tau gene reported in an American family with pallidopontonigral degeneration (PPND family) was recently found in members of a French kindred with dementia and supranuclear palsy.
|
12056930 |
2002 |
|
Dysautonomia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Physiologic assessment of autonomic dysfunction in pallidopontonigral degeneration with N279K mutation in the tau gene on chromosome 17.
|
12492138 |
2002 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
UNIPROT |
A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation.
|
11071507 |
2000 |
|
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
|
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
|
UNIPROT |
Early-onset, rapidly progressive familial tauopathy with R406W mutation.
|
11889249 |
2002 |
|
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 |
Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.
|
9736786 |
1998 |
|
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 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 |
GeneticVariation
|
UNIPROT |
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17.
|
9641683 |
1998 |
|
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
|
UNIPROT |
Functional effects of tau gene mutations deltaN296 and N296H.
|
11906000 |
2002 |
|
Frontotemporal dementia
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau.
|
10374757 |
1999 |
|
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 |
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
|
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
|
UNIPROT |
A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration.
|
10489057 |
1999 |
|
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 |