|
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 |
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 |
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 |
Suppression of Progranulin Expression Leads to Formation of Intranuclear TDP-43 Inclusions In Vitro: A Cell Model of Frontotemporal Lobar Degeneration.
|
31626287 |
2019 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Microglia in frontotemporal lobar degeneration with progranulin or C9ORF72 mutations.
|
31448566 |
2019 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We present a family with autosomal dominant frontotemporal lobar degeneration caused by a novel GRN nonsense mutation (c.5G>A: p.Trp2*) in which the proband's brain also showed prominent glial tauopathy consistent with an aging-related tau astrogliopathy.
|
30545478 |
2019 |
|
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in progranulin (GRN) and a non-coding (GGGGCC)<sub>n</sub> hexanucleotide repeat expansions in C9ORF72 are the two most common genetic causes of frontotemporal lobar degeneration with aggregates of TAR DNA binding protein 43 (FTLD-TDP).
|
29855382 |
2018 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Novel GRN Mutations in Alzheimer's Disease and Frontotemporal Lobar Degeneration.
|
29614680 |
2018 |
|
GRN-related frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Diagnostic value of cerebrospinal fluid tau, neurofilament, and progranulin in definite frontotemporal lobar degeneration.
|
29559004 |
2018 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.
|
29724592 |
2018 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in progranulin (PGRN) gene cause frontotemporal lobar degeneration.
|
30057241 |
2018 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the progranulin (PGRN) gene cause a tau pathology-negative and TDP43 pathology-positive form of frontotemporal lobar degeneration (FTLD-TDP).
|
29382817 |
2018 |
|
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
However, how progranulin and TMEM106B interact to regulate lysosomal function and frontotemporal lobar degeneration (FTLD) disease progression is still unclear.
|
28126008 |
2017 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations resulting in progranulin (PGRN) haploinsufficiency cause frontotemporal lobar degeneration with TDP-43-positive inclusions (FTLD-TDP), a devastating neurodegenerative disease.
|
28835281 |
2017 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous loss-of-function mutations in GRN, the progranulin gene, which result in progranulin (PGRN) protein haploinsufficiency, are a major cause of frontotemporal lobar degeneration with TDP-43 proteinopathy (FTLD-TDP).
|
29044416 |
2017 |
|
GRN-related frontotemporal dementia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Modifiers of GRN-Associated Frontotemporal Lobar Degeneration.
|
28890134 |
2017 |
|
GRN-related frontotemporal dementia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Missense mutation in GRN gene affecting RNA splicing and plasma progranulin level in a family affected by frontotemporal lobar degeneration.
|
28285794 |
2017 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here, we present a novel GRN mutation resulting in frontotemporal lobar degeneration with a distinct clinical phenotype, and we review reports of GRN mutations associated with familial phenotypic heterogeneity.
|
28915852 |
2017 |
|
GRN-related frontotemporal dementia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Progranulin (PGRN) haploinsufficiency resulting from loss-of-function mutations in the PGRN gene causes frontotemporal lobar degeneration accompanied by TDP-43 accumulation, and patients with homozygous mutations in the PGRN gene present with neuronal ceroid lipofuscinosis.
|
28073925 |
2017 |