Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.900 GeneticVariation disease BEFREE In this international, retrospective cohort study, we collected data on age at symptom onset, age at death, and disease duration for patients with pathogenic mutations in the GRN and MAPT genes and pathological expansions in the C9orf72 gene through the Frontotemporal Dementia Prevention Initiative and from published papers. 31810826 2020
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.900 GeneticVariation disease BEFREE Importantly, this effect on GCase activity was rescued by treatment with saposin C. Together, these findings suggested that reduced GCase activity due to impaired processing of prosaposin may contribute to pathogenesis of FTD resulting from PGRN mutations. 31600775 2020
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.900 Biomarker disease BEFREE GRN null mutations are among the main genetic causes of frontotemporal dementia through progranulin haploinsufficiency. 31262553 2020
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.900 GeneticVariation disease BEFREE We identified 9 potentially pathogenic mutations in the AD-causal genes APP, PSEN1, PSEN2, and 6 mutations in a group of non-AD dementia-causal genes including the FTD-causal gene GRN and the VaD-causal gene NOTCH3. 30954774 2019
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.900 Biomarker disease BEFREE We identified and validated five novel CSF biomarkers in <i>GRN-</i>associated FTD. 31019994 2019
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.900 Biomarker disease BEFREE Our findings indicate that murine progranulin deficiency causes age-dependent neurophysiological and behavioral abnormalities thereby indicating their validity in modeling aspects of human frontotemporal dementia. 31639062 2019
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.900 Biomarker disease BEFREE Among the seven GRNs, GRN-3 is well characterized and is implicated within the context of FTD. 30782973 2019
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.900 Biomarker disease BEFREE This cell model can be valuable for the study of the role of PGRN in the pathogenesis in FTLD-TDP. 31626287 2019
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.900 GeneticVariation disease BEFREE Eligible participants (aged ≥18 years) either had frontotemporal dementia due to a pathogenic mutation in GRN, C9orf72, or MAPT (symptomatic mutation carriers) or were healthy at-risk first-degree relatives (either presymptomatic mutation carriers or non-carriers), and had at least two serum samples with a time interval of 6 months or more. 31701893 2019
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.900 GeneticVariation disease BEFREE We performed <sup>18</sup>F-flortaucipir imaging in patients with the FTD syndromes (n = 45): nonfluent variant primary progressive aphasia (nfvPPA) (n = 11), corticobasal syndrome (CBS) (n = 10), behavioral variant frontotemporal dementia (bvFTD) (n = 10), semantic variant primary progressive aphasia (svPPA) (n = 2) and FTD associated pathogenic genetic mutations microtubule-associated protein tau (MAPT) (n = 6), chromosome 9 open reading frame 72 (C9ORF72) (n = 5), and progranulin (GRN) (n = 1). 30704514 2019
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.900 GeneticVariation disease BEFREE The generation of in vivo models of FTD involves either targeting genes with known disease-causative mutations such as GRN and C9orf72 or genes encoding proteins that form the inclusions that characterize the disease pathologically, such as TDP-43 and FUS. 30582188 2019
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.900 Biomarker disease BEFREE In this study, we used mouse models to investigate the role of neuronal and microglial progranulin insufficiency in the development of FTD-like pathology and behavioral deficits. 30448285 2019
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.900 GeneticVariation disease BEFREE These disorders include progranulin (PGRN)-deficient forms of frontotemporal dementia caused by mutations in the <i>GRN</i> gene that lead to haploinsufficiency. 31330099 2019
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.900 Biomarker disease BEFREE Progranulin (PGRN) is best known as a glial protein for which deficiency leads to the most common inherited form of frontotemporal dementia. 31237618 2019
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.900 GeneticVariation disease BEFREE Through the study of 1131 unrelated Caucasian patients, we estimated that C9orf72 repeat expansions and GRN loss-of-function mutations account for 25.5% and 13.9% of FTLD-TDP patients, respectively. 30739198 2019
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.900 AlteredExpression disease BEFREE These findings suggest that the profile of TDP-43 inclusions, neuronal number, and microgliosis in the CA1 sector of FTLD-TDP type A cases may be influenced by GRN gene expression status. 31361008 2019
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.900 GeneticVariation disease BEFREE Age at symptom onset in genetic FTD is variable with recently identified genetic modifiers including TMEM106B (in GRN carriers particularly) and a polymorphism at a locus containing two overlapping genes LOC101929163 and C6orf10 (in C9orf72 carriers). 31119452 2019
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.900 Biomarker disease BEFREE AAV-mediated progranulin gene (GRN) delivery has been proposed as a treatment for GRN-deficient frontotemporal dementia and neuronal ceroid lipofuscinosis, and recent studies using intraparenchymal AAV-Grn delivery to brain have shown moderate success in histopathologic and behavioral rescue in mouse models. 30559071 2019
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.900 Biomarker disease BEFREE Both inferences suggest a potential use of peripheral GRN mRNA or serum PGRN levels as biomarkers for families with FTD. 30475763 2019
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.900 GeneticVariation disease BEFREE Mutations in the progranulin (GRN) gene are a major cause of familial frontotemporal dementia. 30630176 2019
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.900 GeneticVariation disease BEFREE Presence on T2-weighted images of white matter hyperintensities (WMH) has been previously shown to be more commonly associated with GRN mutations rather than other forms of FTD. 31835286 2019
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.900 GeneticVariation disease BEFREE Of the cohort of 73 participants, eight mutation carriers (three GRN, five MAPT) developed clinical features of frontotemporal dementia ('converters'). 30508042 2019
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.900 GeneticVariation disease BEFREE Multiple genome-wide association studies have shown that risk of FTD in GRN mutation carriers is modified by polymorphisms in TMEM106B, which encodes a lysosomal membrane protein. 29929528 2018
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.900 Biomarker disease BEFREE Here, we address these issues using an AAV vector (AAV-<i>Grn</i>) to deliver progranulin in <i>Grn</i><sup>-/-</sup> mice (both male and female), which model aspects of NCL and FTD pathology, developing lysosomal dysfunction, lipofuscinosis, and microgliosis. 29378861 2018
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.900 Biomarker disease BEFREE In the case of frontotemporal dementia (FTD), the ability to measure PGRN/GP88/GEP levels in plasma and cerebrospinal fluid may be useful in distinguishing PGRN mutation carriers among FTD populations at large. 29956271 2018