|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Alzheimer neuropathology without frontotemporal lobar degeneration hallmarks (TAR DNA-binding protein 43 inclusions) in missense progranulin mutation Cys139Arg.
|
27997711 |
2018 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The underlying pathology varies between corticobasal degeneration, progressive supranuclear palsy, Alzheimer's disease, Creutzfeldt-Jakob disease and frontotemporal lobar degeneration sometimes in association with GRN mutations.
|
21863316 |
2011 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Haploinsufficiency caused by autosomal dominant mutations within the GRN gene leads to frontotemporal lobar degeneration, a progressive neuronal atrophy that presents in patients as frontotemporal dementia.
|
29053785 |
2017 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion.
|
17984093 |
2008 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
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 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
No evidence of PGRN or MAPT gene dosage alterations in a collection of patients with frontotemporal lobar degeneration.
|
19940479 |
2009 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recently, the heterogeneous pathologic substrate of corticobasal syndrome has been further expanded to include cases with pathologic diagnosis of frontotemporal lobar degeneration with ubiquitin/TDP-43 (TAR DNA binding protein 43)-positive inclusions associated with progranulin (PGRN) mutations.
|
17917583 |
2007 |
|
GRN-related frontotemporal dementia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Brain progranulin expression in GRN-associated frontotemporal lobar degeneration.
|
19649643 |
2010 |
|
GRN-related frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Progranulin (PGRN) is implicated in Alzheimer's disease (AD) as well as frontotemporal lobar degeneration.
|
28070672 |
2017 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Progranulin (GRN) mutations causing haploinsufficiency are a major cause of frontotemporal lobar degeneration (FTLD-TDP).
|
24163244 |
2014 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Progranulin gene (PGRN) haploinsufficiency was recently associated with ubiquitin-positive frontotemporal lobar degeneration linked to chromosome 17q21 (FTLDU-17).
|
17923627 |
2007 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Progranulin gene (GRN) mutations are among the leading causes of frontotemporal lobar degeneration, a group of neurodegenerative diseases characterized by remarkable clinical heterogeneity.
|
31837909 |
2020 |
|
GRN-related frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Serum C-Peptide, Visfatin, Resistin, and Ghrelin are Altered in Sporadic and GRN-Associated Frontotemporal Lobar Degeneration.
|
29226876 |
2018 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in progranulin gene (GRN) are a common cause of autosomal dominant frontotemporal lobar degeneration and are associated with a wide phenotypic heterogeneity.
|
25261445 |
2015 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the progranulin gene are known to cause diverse clinical syndromes, all attributed to frontotemporal lobar degeneration.
|
23609919 |
2013 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous loss-of-function mutations in the GRN gene lead to progranulin (PGRN) haploinsufficiency and cause frontotemporal lobar degeneration with TDP-43 pathology type A (FTLD-TDP type A).
|
31361008 |
2019 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
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 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the progranulin gene lead to progranulin haploinsufficiency and to frontotemporal lobar degeneration (FTD) with TDP-43 positive inclusions.
|
19618231 |
2009 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Founder effect and estimation of the age of the Progranulin Thr272fs mutation in 14 Italian pedigrees with frontotemporal lobar degeneration.
|
20947212 |
2011 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the progranulin gene (GRN) are a major cause of frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions (FTLD-U) but the distinguishing clinical and anatomical features of this subgroup remain unclear.
|
18234697 |
2008 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutation of human GRN, the gene encoding the secreted glycoprotein progranulin, results in a form of frontotemporal lobar degeneration that is characterized by the presence of ubiquitinated inclusions containing phosphorylated and cleaved fragments of the transactivation response element DNA-binding protein-43.
|
21691802 |
2011 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the progranulin gene (GRN) are the most common cause of frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP).
|
27138926 |
2016 |
|
GRN-related frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our results indicate that the serum PGRN level is a reliable biomarker for diagnosing and early detection of frontotemporal lobar degeneration caused by PGRN null mutations, and provided the first in vivo evidence that at least some missense mutations in PGRN may lead to a (partial) loss of PGRN.
|
19288468 |
2009 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In several types of cancers, progranulin expression is upregulated, whereas function-interfering mutations in the granulin gene in humans have been linked to a subset of heritable cases of frontotemporal lobar degeneration.
|
29956283 |
2018 |
|
GRN-related frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Common pathobiochemical hallmarks of progranulin-associated frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis.
|
24619111 |
2014 |