Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
Minerva M Carrasquillo, Alexandra M Nicholson, NiCole Finch, J Raphael Gibbs, Matt Baker, Nicola J Rutherford, Talisha A Hunter, Mariely DeJesus-Hernandez, Gina D Bisceglio, Ian R Mackenzie, Andrew Singleton, Mark R Cookson, Julia E Crook, Allissa Dillman, Dena Hernandez, Ronald C Petersen, Neill R Graff-Radford, Steven G Younkin, Rosa Rademaker. Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma. American journal of human genetics. vol 87. issue 6. 2011-01-18. PMID:21087763. |
loss-of-function mutations in the progranulin gene (grn) cause frontotemporal lobar degeneration (ftld), a progressive neurodegenerative disease affecting ∼10% of early-onset dementia patients. |
2011-01-18 |
2023-08-12 |
human |
Kristel Sleegers, Nathalie Brouwers, Christine Van Broeckhove. Role of progranulin as a biomarker for Alzheimer's disease. Biomarkers in medicine. vol 4. issue 1. 2010-05-03. PMID:20387302. |
we conclude that circulating grn is a promising, nonintrusive biomarker that warrants screening in both patients with dementia of the alzheimer type and people with mild cognitive impairment; specifically for, but not limited to, those that have a positive family history of neurodegenerative disease. |
2010-05-03 |
2023-08-12 |
Not clear |
Miryam Carecchio, Chiara Fenoglio, Milena De Riz, Ilaria Guidi, Cristoforo Comi, Francesca Cortini, Eliana Venturelli, Ilaria Restelli, Claudia Cantoni, Nereo Bresolin, Francesco Monaco, Elio Scarpini, Daniela Galimbert. Progranulin plasma levels as potential biomarker for the identification of GRN deletion carriers. A case with atypical onset as clinical amnestic Mild Cognitive Impairment converted to Alzheimer's disease. Journal of the neurological sciences. vol 287. issue 1-2. 2010-02-12. PMID:19683260. |
this case confirms progranulin plasma levels as a reliable biomarker to identify grn deletion carriers and discriminate between ftld and other dementias which may mimic it. |
2010-02-12 |
2023-08-12 |
Not clear |
Andrew Bateman, Hugh P J Bennet. The granulin gene family: from cancer to dementia. BioEssays : news and reviews in molecular, cellular and developmental biology. vol 31. issue 11. 2010-01-12. PMID:19795409. |
an autosomal dominant mutation in grn, the gene for pgrn, leads to neuronal atrophy in the frontal and temporal lobes, resulting in the disease frontotemporal lobar dementia. |
2010-01-12 |
2023-08-12 |
mouse |
NiCole Finch, Matt Baker, Richard Crook, Katie Swanson, Karen Kuntz, Rebecca Surtees, Gina Bisceglio, Anne Rovelet-Lecrux, Bradley Boeve, Ronald C Petersen, Dennis W Dickson, Steven G Younkin, Vincent Deramecourt, Julia Crook, Neill R Graff-Radford, Rosa Rademaker. Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members. Brain : a journal of neurology. vol 132. issue Pt 3. 2009-05-27. PMID:19158106. |
we propose that plasma grn levels could be used as a reliable and inexpensive tool to identify all grn mutation carriers in early-onset dementia populations and asymptomatic at-risk individuals. |
2009-05-27 |
2023-08-12 |
Not clear |
Rosa Rademakers, Jason L Eriksen, Matt Baker, Todd Robinson, Zeshan Ahmed, Sarah J Lincoln, Nicole Finch, Nicola J Rutherford, Richard J Crook, Keith A Josephs, Bradley F Boeve, David S Knopman, Ronald C Petersen, Joseph E Parisi, Richard J Caselli, Zbigniew K Wszolek, Ryan J Uitti, Howard Feldman, Michael L Hutton, Ian R Mackenzie, Neill R Graff-Radford, Dennis W Dickso. Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia. Human molecular genetics. vol 17. issue 23. 2008-12-29. PMID:18723524. |
loss-of-function mutations in progranulin (grn) cause ubiquitin- and tar dna-binding protein 43 (tdp-43)-positive frontotemporal dementia (ftld-u), a progressive neurodegenerative disease affecting approximately 10% of early-onset dementia patients. |
2008-12-29 |
2023-08-12 |
Not clear |
Isabelle Le Ber, Agnès Camuzat, Didier Hannequin, Florence Pasquier, Eric Guedj, Anne Rovelet-Lecrux, Valérie Hahn-Barma, Julie van der Zee, Fabienne Clot, Serge Bakchine, Michèle Puel, Mustapha Ghanim, Lucette Lacomblez, Jacqueline Mikol, Vincent Deramecourt, Pascal Lejeune, Vincent de la Sayette, Serge Belliard, Martine Vercelletto, Christian Meyrignac, Christine Van Broeckhoven, Jean-Charles Lambert, Patrice Verpillat, Dominique Campion, Marie-Odile Habert, Bruno Dubois, Alexis Bric. Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. Brain : a journal of neurology. vol 131. issue Pt 3. 2008-05-01. PMID:18245784. |
the phenotypes associated with grn mutations vary greatly: 20/32 (63%) carriers had fvftd, the other (12/32, 37%) had clinical diagnoses of ppa, cbds, lewy body dementia or alzheimer's disease. |
2008-05-01 |
2023-08-12 |
Not clear |