|
rs63751011
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
[18F]AV-1451 PET in behavioral variant frontotemporal dementia due to MAPT mutation.
|
28097206 |
2016 |
|
rs63750756
|
|
|
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 |
|
rs63750756
|
|
|
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 |
|
rs4878104
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We showed a positive association between rs4878104 and FTD, s</span>uggesting a possible implication of the DAPK1 genetic variant in the susceptibility to FTD.
|
22785394 |
2012 |
|
rs1417373701
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We reported a Chinese FTD patient carrying TBK1 p.Ile334Thr variant detected by target sequencing and Sanger sequencing.
|
30672142 |
2019 |
|
rs767076633
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We reported a Chinese FTD patient carrying TBK1 p.Ile334Thr variant detected by target sequencing and Sanger sequencing.
|
30672142 |
2019 |
|
rs773403329
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We reported a Chinese FTD patient carrying TBK1 p.Ile334Thr variant detected by target sequencing and Sanger sequencing.
|
30672142 |
2019 |
|
rs63750711
|
|
|
0.810 |
GeneticVariation |
BEFREE |
We report on a 55-year old woman with frontotemporal dementia and a family history of FTDP-17 in whom we found a novel E12 (Glu342Val) tau gene mutation, prominent frontotemporal neuron loss, intracytoplasmic tau aggregates, paired helical tau filaments, increased 4R tau messenger RNA, increased 4R tau without E2 or E3 inserts, decreased 4R tau with these inserts, and a 4R:3R tau ratio greater than 1 in gray and white matter.
|
11117541 |
2000 |
|
rs63750711
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
We report on a 55-year old woman with frontotemporal dementia and a family history of FTDP-17 in whom we found a novel E12 (Glu342Val) tau gene mutation, prominent frontotemporal neuron loss, intracytoplasmic tau aggregates, paired helical tau filaments, increased 4R tau messenger RNA, increased 4R tau without E2 or E3 inserts, decreased 4R tau with these inserts, and a 4R:3R tau ratio greater than 1 in gray and white matter.
|
11117541 |
2000 |
|
rs63750349
|
|
|
0.830 |
GeneticVariation |
BEFREE |
We report here on the clinical, neuroimaging, cerebral spinal fluid biomarker, genetic, biochemical and postmortem neuropathological analyses of a case of familial FTD with a Leu266Val MAPT mutation which results in a very early age of onset and a rapid course of disease.
|
17072625 |
2007 |
|
rs760049824
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report a novel exon 12 mutation in MAPT (S356T), in a family with an exceptionally early age at onset (27 and 29 years), causing familial behavioural variant frontotemporal dementia.
|
20708332 |
2010 |
|
rs63751165
|
|
|
0.830 |
GeneticVariation |
BEFREE |
We report a Japanese family with early onset hereditary frontotemporal dementia and a novel missense mutation (Ser305Asn) in the tau gene.
|
10208578 |
1999 |
|
rs72824905
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We replicated the association of rs72824905-G with reduced AD risk and we found an association with reduced risk of dementia with Lewy bodies (DLB) and frontotemporal dementia (FTD).
|
31131421 |
2019 |
|
rs63750756
|
|
|
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 |
|
rs1038579230
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a known mutation of MAPT (p.Pro301Leu, c.902C>T) in four patients from an autosomal dominant FTD family with behavioral variant FTD (bvFTD) and progressive nonfluent aphasia (PNFA) phenotypes, and a novel mutation in MAPT (p.Leu48Val, c.142 G>C) in a sporadic progressive supranuclear palsy patient.
|
27439681 |
2016 |
|
rs762046989
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a known mutation of MAPT (p.Pro301Leu, c.902C>T) in four patients from an autosomal dominant FTD family with behavioral variant FTD (bvFTD) and progressive nonfluent aphasia (PNFA) phenotypes, and a novel mutation in MAPT (p.Leu48Val, c.142 G>C) in a sporadic progressive supranuclear palsy patient.
|
27439681 |
2016 |
|
rs63751273
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We identified a known mutation of MAPT (p.Pro301Leu, c.902C>T) in four patients from an autosomal dominant FTD family with behavioral variant FTD (bvFTD) and progressive nonfluent aphasia (PNFA) phenotypes, and a novel mutation in MAPT (p.Leu48Val, c.142 G>C) in a sporadic progressive supranuclear palsy patient.
|
27439681 |
2016 |
|
rs1026683055
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a known mutation of MAPT (p.Pro301Leu, c.902C>T) in four patients from an autosomal dominant FTD family with behavioral variant FTD (bvFTD) and progressive nonfluent aphasia (PNFA) phenotypes, and a novel mutation in MAPT (p.Leu48Val, c.142 G>C) in a sporadic progressive supranuclear palsy patient.
|
27439681 |
2016 |
|
rs762104961
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a known mutation of MAPT (p.Pro301Leu, c.902C>T) in four patients from an autosomal dominant FTD family with behavioral variant FTD (bvFTD) and progressive nonfluent aphasia (PNFA) phenotypes, and a novel mutation in MAPT (p.Leu48Val, c.142 G>C) in a sporadic progressive supranuclear palsy patient.
|
27439681 |
2016 |
|
rs63751273
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
We identified a known mutation of MAPT (p.Pro301Leu, c.902C>T) in four patients from an autosomal dominant FTD family with behavioral variant FTD (bvFTD) and progressive nonfluent aphasia (PNFA) phenotypes, and a novel mutation in MAPT (p.Leu48Val, c.142 G>C) in a sporadic progressive supranuclear palsy patient.
|
27439681 |
2016 |
|
rs63751273
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We identified 2 missense mutations in exon 10: N279K and P301L in 2 Japanese patients with familial FTD.
|
11598310 |
2001 |
|
rs758576072
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have used a combined structural and cell biological approach to study if two frontotemporal dementia (FTD)-associated pathologic mutations, V337M and N279K, affect the aggregation, conformation and cellular internalization of the tau four-repeat domain (K18) fragment.
|
31338022 |
2019 |
|
rs377163259
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have used a combined structural and cell biological approach to study if two frontotemporal dementia (FTD)-associated pathologic mutations, V337M and N279K, affect the aggregation, conformation and cellular internalization of the tau four-repeat domain (K18) fragment.
|
31338022 |
2019 |
|
rs63750424
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We have studied biochemical and structural parameters of several missense and deletion mutants of tau protein (G272V, N279K, DeltaK280, P301L, V337M, R406W) found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17).
|
10995239 |
2000 |
|
rs63751438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We have previously recapitulated aspects of human FTD in mouse models by overexpressing mutant human tau in CNS neurons, including a P301S tau variant in TAU58/2 mice, characterized by early-onset and progressive behavioral deficits and FTD-like neuropathology.
|
31366728 |
2019 |