×
Entrez Id: 2896
Gene Symbol: GRN
GRN
Frontotemporal dementia
0.900
Biomarker
CTD_human
Suberoylanilide hydroxamic acid (vorinostat) up-regulates progranulin transcription: rational therapeutic approach to frontotemporal dementia .
21454553 2011
×
Entrez Id: 2896
Gene Symbol: GRN
GRN
Frontotemporal dementia
0.900
Biomarker
CTD_human
Progranulin , a glycoprotein deficient in frontotemporal dementia , is a novel substrate of several protein disulfide isomerase family proteins.22028881 2011
×
Entrez Id: 2896
Gene Symbol: GRN
GRN
Frontotemporal dementia
0.900
Biomarker
GENOMICS_ENGLAND
Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family.
17923627 2007
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
Biomarker
GENOMICS_ENGLAND
Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation.
28664294 2017
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
GeneticVariation
UNIPROT
An autosomal-dominantly form of frontotemporal dementia and parkinsonism linked to chromosome 17q21.2 (FTDP-17 ) was defined in 1996.
26086902 2015
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
Biomarker
GENOMICS_ENGLAND
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
26539891 2015
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
Biomarker
GENOMICS_ENGLAND
Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients.
22503161 2012
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
Biomarker
GENOMICS_ENGLAND
The genetics of Alzheimer disease.
23028126 2012
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
Biomarker
CTD_human
Mutations in microtubule associated protein tau (MAPT ) are detected in approximately 30% of familial FTD kindreds.
16495328 2006
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
GeneticVariation
UNIPROT
Frontotemporal dementia with parkinsonism is often linked to chromosome 17 and is related to mutations in the MAPT gene.15883319 2005
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
GeneticVariation
UNIPROT
Mutations in the gene encoding the microtubule-associated protein tau (MAPT ) cause frontotemporal dementia and parkinsonism linked to chromosome 17.
16240366 2005
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
GeneticVariation
UNIPROT
Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe.
14517953 2003
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
GeneticVariation
UNIPROT
A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology.
12509859 2003
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
Biomarker
CTD_human
Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene.
11912108 2002
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
GeneticVariation
UNIPROT
Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation.
11921059 2002
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
GeneticVariation
UNIPROT
Early-onset, rapidly progressive familial tauopathy with R406W mutation.
11889249 2002
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
GeneticVariation
UNIPROT
Mutations in the tau gene cause frontotemporal dementia and parkinsonism linked to chromosome-17 (FTDP-17 ).
11906000 2002
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
GeneticVariation
UNIPROT
Clinical and genetic studies of families with the tau N279K mutation (FTDP-17).
12473774 2002
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
GeneticVariation
UNIPROT
Effects of FTDP-17 mutations on the in vitro phosphorylation of tau by glycogen synthase kinase 3beta identified by mass spectrometry demonstrate certain mutations exert long-range conformational changes.
11278002 2001
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
GeneticVariation
UNIPROT
These findings suggest that tau proteins are not always assembled in abnormal filaments such as twisted ribbons, paired helical filaments and straight tubules in neurons and glial cells, which have been shown in previous cases with frontotemporal dementia and parkinsonism linked to chromosome 17.
11585254 2001
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
Biomarker
CTD_human
Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene.
10802785 2000
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
GeneticVariation
UNIPROT
A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation.
11071507 2000
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
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
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
GeneticVariation
UNIPROT
The authors conclude that PSEN1 mutations can be associated with clinical features of frontotemporal dementia .
11094121 2000
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
Biomarker
CTD_human
The authors conclude that PSEN1 mutations can be associated with clinical features of frontotemporal dementia .
11094121 2000