|
| Entrez Id: |
23435 |
| Gene Symbol: |
TARDBP |
TARDBP
|
0.800 |
Biomarker
|
disease |
MGD |
TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD.
|
29556029 |
2018 |
|
| Entrez Id: |
23435 |
| Gene Symbol: |
TARDBP |
TARDBP
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.
|
28430856 |
2017 |
|
| Entrez Id: |
23435 |
| Gene Symbol: |
TARDBP |
TARDBP
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Burden of rare variants in ALS genes influences survival in familial and sporadic ALS.
|
28709720 |
2017 |
|
| Entrez Id: |
23435 |
| Gene Symbol: |
TARDBP |
TARDBP
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Burden of rare variants in ALS genes influences survival in familial and sporadic ALS.
|
28709720 |
2017 |
|
| Entrez Id: |
23435 |
| Gene Symbol: |
TARDBP |
TARDBP
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Functional complementation in Drosophila to predict the pathogenicity of TARDBP variants: evidence for a loss-of-function mechanism.
|
25442115 |
2015 |
|
| Entrez Id: |
23435 |
| Gene Symbol: |
TARDBP |
TARDBP
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Disease-associated mutations of TDP-43 promote turnover of the protein through the proteasomal pathway.
|
24477737 |
2014 |
|
| Entrez Id: |
23435 |
| Gene Symbol: |
TARDBP |
TARDBP
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations.
|
24507191 |
2014 |
|
| Entrez Id: |
23435 |
| Gene Symbol: |
TARDBP |
TARDBP
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations.
|
24507191 |
2014 |
|
| Entrez Id: |
23435 |
| Gene Symbol: |
TARDBP |
TARDBP
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Astrocyte pathology and the absence of non-cell autonomy in an induced pluripotent stem cell model of TDP-43 proteinopathy.
|
23401527 |
2013 |
|
| Entrez Id: |
23435 |
| Gene Symbol: |
TARDBP |
TARDBP
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The ALS disease-associated mutant TDP-43 impairs mitochondrial dynamics and function in motor neurons.
|
23827948 |
2013 |
|
| Entrez Id: |
23435 |
| Gene Symbol: |
TARDBP |
TARDBP
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Accelerated disease onset with stabilized familial amyotrophic lateral sclerosis (ALS)-linked mutant TDP-43 proteins.
|
23235148 |
2013 |
|
| Entrez Id: |
23435 |
| Gene Symbol: |
TARDBP |
TARDBP
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
|
23881933 |
2013 |
|
| Entrez Id: |
23435 |
| Gene Symbol: |
TARDBP |
TARDBP
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Downregulation of microRNA-9 in iPSC-derived neurons of FTD/ALS patients with TDP-43 mutations.
|
24143176 |
2013 |
|
| Entrez Id: |
23435 |
| Gene Symbol: |
TARDBP |
TARDBP
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Novel TARDBP mutations in Nordic ALS patients.
|
22456481 |
2012 |
|
| Entrez Id: |
23435 |
| Gene Symbol: |
TARDBP |
TARDBP
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis.
|
21418058 |
2012 |
|
| Entrez Id: |
23435 |
| Gene Symbol: |
TARDBP |
TARDBP
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations.
|
22539580 |
2012 |
|
| Entrez Id: |
23435 |
| Gene Symbol: |
TARDBP |
TARDBP
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene.
|
21220647 |
2011 |
|
| Entrez Id: |
23435 |
| Gene Symbol: |
TARDBP |
TARDBP
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutant TAR DNA-binding protein-43 induces oxidative injury in motor neuron-like cell.
|
20600671 |
2010 |
|
| Entrez Id: |
23435 |
| Gene Symbol: |
TARDBP |
TARDBP
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS.
|
20624952 |
2010 |
|
| Entrez Id: |
23435 |
| Gene Symbol: |
TARDBP |
TARDBP
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
TDP-43 M337V mutation in familial amyotrophic lateral sclerosis in Japan.
|
20154440 |
2010 |
|
| Entrez Id: |
23435 |
| Gene Symbol: |
TARDBP |
TARDBP
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis.
|
19760257 |
2010 |
|
| Entrez Id: |
23435 |
| Gene Symbol: |
TARDBP |
TARDBP
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS.
|
20740007 |
2010 |
|
| Entrez Id: |
23435 |
| Gene Symbol: |
TARDBP |
TARDBP
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration.
|
19350673 |
2009 |
|
| Entrez Id: |
23435 |
| Gene Symbol: |
TARDBP |
TARDBP
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease.
|
19655382 |
2009 |
|
| Entrez Id: |
23435 |
| Gene Symbol: |
TARDBP |
TARDBP
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
TDP-43 is intrinsically aggregation-prone, and amyotrophic lateral sclerosis-linked mutations accelerate aggregation and increase toxicity.
|
19465477 |
2009 |