rs63751273
|
|
|
0.050 |
GeneticVariation |
BEFREE |
In the present study, we report for the first time a significant upregulation of A2AR in patients suffering from frontotemporal lobar degeneration with the MAPT P301L mutation.
|
31599329 |
2019 |
rs63751273
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Frontotemporal lobar degeneration due to P301L tau mutation showing apathy and severe frontal atrophy but lacking other behavioral changes: A case report and literature review.
|
29105852 |
2018 |
rs63751273
|
|
|
0.050 |
GeneticVariation |
BEFREE |
We found reduced mRNA and protein expression of FOXP2 in frontal cortex area 8 in Pick's disease, and frontotemporal lobar degeneration-tau linked to P301L mutation presenting with language impairment in comparison with age-matched controls and cases with parkinsonian variant progressive supranuclear palsy.
|
27497476 |
2016 |
rs63751273
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Gene expression studies of cytokines and mediators of the immune response have been made in post-mortem human brain samples in AD, sPD, sporadic Creutzfeldt-Jakob disease (sCJD) subtypes MM1 and VV2, Pick's disease (PiD), progressive supranuclear palsy (PSP) and frontotemporal lobar degeneration linked to mutation P301L in MAPT Frontotemporal lobar degeneration-tau (FTLD-tau).
|
26861289 |
2016 |
rs63751273
|
|
|
0.050 |
GeneticVariation |
BEFREE |
We enrolled affected (n = 6) and unaffected at risk members (n = 73) of families carrying the FTLD associated progranulin Leu271LeufsX10 mutation; additionally, we included subjects affected by sporadic/familial FTLD (n = 65), controls (n = 75), and a family carrying the tau P301L mutation.
|
18768919 |
2008 |
rs1990622
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Transmembrane Protein 106B SNP rs1990622 was recently shown to modify the risk of frontotemporal lobar degeneration with TDP-43 inclusions (FTD-TDP).
|
25096617 |
2015 |
rs5848
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The purpose of this meta-analysis was to investigate the association between progranulin polymorphism rs5848 and risk of the neurodegenerative diseases frontotemporal lobar degeneration (FTLD), Alzheimer's disease (AD), Parkinson's disease (PD), and amyotrophic lateral sclerosis (ALS).
|
25578179 |
2015 |
rs1990622
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Recent large genome-wide association studies have found variants in TMEM106B (top SNP rs1990622) as a strong risk factor for frontotemporal lobar degeneration.
|
24166182 |
2014 |
rs1990622
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We investigated the rs1990622 polymorphism in relation to regional brain volumes to identify potential structures through which TMEM106B confers risk for frontotemporal lobar degeneration.
|
24731779 |
2014 |
rs5848
|
|
|
0.040 |
GeneticVariation |
BEFREE |
A single nucleotide polymorphism GRN rs5848 (3'UTR+78 C>T) was reported to alter the risk for frontotemporal lobar degeneration.
|
23342160 |
2013 |
rs1990622
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We further identified a significant association of TMEM106B SNPs with plasma GRN levels in controls (top SNP rs1990622, corrected p = 0.002) and in peripheral blood samples a highly significant correlation was observed between TMEM106B and GRN mRNA expression in patients with FTLD (r = -0.63, p = 7.7 × 10(-5)) and controls (r = -0.49, p = 2.2 × 10(-10)).
|
21178100 |
2011 |
rs5848
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We have attempted to rep</span>licate the association of rs5848</span> in three independent FTLD cohorts.
|
19446372 |
2011 |
rs5848
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The evidence presented here suggests that variation at rs5848 does not contribute to the etiology of FTLD in the Dutch population.
|
19847305 |
2009 |
rs143624519
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A novel variant in MAPT resulting in an alanine to threonine substitution at position 152 (A152T tau) has recently been described as a significant risk factor for both frontotemporal lobar degeneration and Alzheimer's disease.
|
30590647 |
2019 |
rs75932628
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our findings identified the rs75932628 and rs2234253 polymorphisms of the TREM2 gene as risk factors for FTLD in Caucasian populations.
|
29322490 |
2018 |
rs763841075
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Alzheimer neuropathology without frontotemporal lobar degeneration hallmarks (TAR DNA-binding protein 43 inclusions) in missense progranulin mutation Cys139Arg.
|
27997711 |
2018 |
rs143624519
|
|
|
0.020 |
GeneticVariation |
BEFREE |
All seven participants with available brain autopsies (6 GRN+/A152T+, 1 GRN+/A152T-) showed frontotemporal lobar degeneration with TDP-43 inclusions (type A classification), which is characteristic of GRN carriers.
|
28594853 |
2017 |
rs75932628
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A rare variant in TREM2 (p.R47H, rs75932628) was recently reported to increase the risk of Alzheimer's disease (AD) and, subsequently, other neurodegenerative diseases, i.e. frontotemporal lobar degeneration (FTLD), amyotrophic lateral sclerosis (ALS), and Parkinson's disease (PD).
|
25936935 |
2015 |
rs763841075
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We describe three new patients affected by neurological syndromes included in the clinical spectrum of FTLD carrying the Cys139Arg genetic variant, thus suggesting a possible implication in the pathogenesis of FTLD.
|
24503614 |
2014 |
rs76980269
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Neuronal nitric oxide synthase (NOS)1 C276T polymorphism was shown to increase the risk for frontotemporal lobar degeneration (FTLD).
|
19087148 |
2009 |
rs34637584
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Screening for the LRRK2 G2019S and codon-1441 mutations in a pathological series of parkinsonian syndromes and frontotemporal lobar degeneration.
|
18353371 |
2008 |
rs76980269
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The C276T SNP acts as risk factor for sporadic FTLD, possibly influencing NOS1 transcription.
|
18042235 |
2008 |
rs34637584
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We identified a LRRK2 mutation leading to the G2019S amino acid substitution in a 79-year-old woman with frontotemporal lobar degeneration with ubiquitinated neuronal intranuclear inclusions (FTLD-U/NII) and a possible family history of tremor.
|
17151837 |
2007 |
rs3173615
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This variant is in high LD with the TMEM106B non-synonymous variant p.T185S (rs3173615; r<sup>2</sup> = 0.98) which was previously identified as a protective variant for frontotemporal lobar degeneration (FTLD).
|
31456032 |
2020 |
rs63751180
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Induced pluripotent stem cells (iPSCs) were generated from peripheral blood-derived erythroid progenitor cells obtained from a presymptomatic female carrying the heterozygous R418X progranulin (GRN) nonsense mutation, known to cause autosomal dominant frontotemporal lobar degeneration.
|
31707213 |
2019 |