|
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
|
0.980 |
Biomarker
|
disease |
MGD |
Murine knockin model for progranulin-deficient frontotemporal dementia with nonsense-mediated mRNA decay.
|
29511098 |
2018 |
|
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
|
0.980 |
Biomarker
|
disease |
MGD |
Targeting Tyro3 ameliorates a model of PGRN-mutant FTLD-TDP via tau-mediated synaptic pathology.
|
29382817 |
2018 |
|
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Clinical and genetic analyses of familial and sporadic frontotemporal dementia patients in Southern Italy.
|
28264768 |
2017 |
|
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
A Novel Splice-Acceptor Site Mutation in GRN (c.709-2 A>T) Causes Frontotemporal Dementia Spectrum in a Large Family from Southern Italy.
|
27258413 |
2016 |
|
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
|
0.980 |
Biomarker
|
disease |
MGD |
Early retinal neurodegeneration and impaired Ran-mediated nuclear import of TDP-43 in progranulin-deficient FTLD.
|
25155018 |
2014 |
|
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort.
|
23338682 |
2013 |
|
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.
|
22608501 |
2012 |
|
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
|
0.980 |
Biomarker
|
disease |
MGD |
Progranulin deficiency promotes neuroinflammation and neuron loss following toxin-induced injury.
|
23041626 |
2012 |
|
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Serum progranulin levels in patients with frontotemporal lobar degeneration and Alzheimer's disease: detection of GRN mutations in a Spanish cohort.
|
22647257 |
2012 |
|
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
|
0.980 |
GeneticVariation
|
disease |
CLINVAR |
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.
|
22608501 |
2012 |
|
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration.
|
21482928 |
2011 |
|
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
The frequency of GRN mutations was 6.9% (30 of 434) of all FTD-spectrum cases, 21.4% (9 of 42) of cases with a pathological diagnosis of FTLD-U, 16.0% (28 of 175) of FTD-spectrum cases with a family history of a similar neurodegenerative disease, and 56.2% (9 of 16) of cases of FTLD-U with a family history.
|
20142524 |
2010 |
|
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration.
|
20142524 |
2010 |
|
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
A single nucleotide polymorphism in the 3'-untranslated region of the progranulin gene (GRN; 3'UTR+78C>T; rs5848) was reported to alter the risk for frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U). rs5848 is located within a micro-RNA binding site and affects the expression of GRN.
|
19473366 |
2009 |
|
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
|
0.980 |
GeneticVariation
|
disease |
UNIPROT |
Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia.
|
18183624 |
2008 |
|
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
Progranulin gene (PGRN) mutations cause frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U).
|
18442119 |
2008 |
|
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia.
|
18183624 |
2008 |
|
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
|
0.980 |
Biomarker
|
disease |
BEFREE |
Mutations in the gene encoding granulin (HUGO gene symbol GRN, also referred to as progranulin, PGRN), located at chromosome 17q21, were recently linked to tau-negative ubiquitin-positive frontotemporal lobar degeneration (FTLDU).
|
18543312 |
2008 |
|
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
Loss of function mutations in progranulin cause tau-negative frontotemporal lobar degeneration with ubiquitin-positive inclusions.
|
17984093 |
2008 |
|
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Neuropathologic heterogeneity in HDDD1: a familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation.
|
17334266 |
2007 |
|
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
Clinicopathologic features of frontotemporal dementia with progranulin sequence variation.
|
17202431 |
2007 |
|
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
Neuropathologic heterogeneity in HDDD1: a familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation.
|
17334266 |
2007 |
|
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations.
|
17278999 |
2007 |
|
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
|
0.980 |
CausalMutation
|
disease |
CLINVAR |
A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology.
|
17439980 |
2007 |
|
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
|
0.980 |
GeneticVariation
|
disease |
BEFREE |
Voxel-based morphometry in frontotemporal lobar degeneration with ubiquitin-positive inclusions with and without progranulin mutations.
|
17353379 |
2007 |