| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Eva C Schulte, Akio Fukumori, Brit Mollenhauer, Hyun Hor, Thomas Arzberger, Robert Perneczky, Alexander Kurz, Janine Diehl-Schmid, Michael Hüll, Peter Lichtner, Gertrud Eckstein, Alexander Zimprich, Dietrich Haubenberger, Walter Pirker, Thomas Brücke, Benjamin Bereznai, Maria J Molnar, Oswaldo Lorenzo-Betancor, Pau Pastor, Annette Peters, Christian Gieger, Xavier Estivill, Thomas Meitinger, Hans A Kretzschmar, Claudia Trenkwalder, Christian Haass, Juliane Winkelman. Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease. European journal of human genetics : EJHG. vol 23. issue 10. 2016-06-15. PMID:25604855. |
we investigated the contribution of rare variants in seven genes of known relevance to dementias (β-amyloid precursor protein (app), psen1/2, mapt (microtubule-associated protein tau), fused in sarcoma (fus), granulin (grn) and tar dna-binding protein 43 (tdp-43)) to pd and pd plus dementia (pd+d) in a discovery sample of 376 individuals with pd and followed by the genotyping of 25 out of the 27 identified variants with a minor allele frequency <5% in 975 individuals with pd, 93 cases with lewy body disease on neuropathological examination, 613 individuals with alzheimer's disease (ad), 182 cases with frontotemporal dementia and 1014 general population controls. |
2016-06-15 |
2023-08-13 |
Not clear |
| Maite Mendioroz Iriarte, Laura Pulido Fontes, Iván Méndez-Lópe. [Neuroepigenetics: Desoxyribonucleic acid methylation in Alzheimer's disease and other dementias]. Medicina clinica. vol 144. issue 10. 2016-02-04. PMID:24907105. |
in other degenerative dementias, methylation variants have also been described in key genes, such as hypomethylation of the snca gene in parkinson's disease and dementia with lewy bodies or hypermethylation of the grn gene promoter in frontotemporal dementia. |
2016-02-04 |
2023-08-13 |
human |
| Celeste Sassi, Rita Guerreiro, Raphael Gibbs, Jinhui Ding, Michelle K Lupton, Claire Troakes, Safa Al-Sarraj, Michael Niblock, Jean-Marc Gallo, Jihad Adnan, Richard Killick, Kristelle S Brown, Christopher Medway, Jenny Lord, James Turton, Jose Bras, Kevin Morgan, John F Powell, Andrew Singleton, John Hard. Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease. Neurobiology of aging. vol 35. issue 12. 2015-11-09. PMID:25104557. |
investigating the role of rare coding variability in mendelian dementia genes (app, psen1, psen2, grn, mapt, and prnp) in late-onset alzheimer's disease. |
2015-11-09 |
2023-08-13 |
Not clear |
| Celeste Sassi, Rita Guerreiro, Raphael Gibbs, Jinhui Ding, Michelle K Lupton, Claire Troakes, Safa Al-Sarraj, Michael Niblock, Jean-Marc Gallo, Jihad Adnan, Richard Killick, Kristelle S Brown, Christopher Medway, Jenny Lord, James Turton, Jose Bras, Kevin Morgan, John F Powell, Andrew Singleton, John Hard. Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease. Neurobiology of aging. vol 35. issue 12. 2015-11-09. PMID:25104557. |
to investigate this intriguing hypothesis, we analyzed rare coding variability in 6 mendelian dementia genes (app, psen1, psen2, grn, mapt, and prnp), in 141 load patients and 179 elderly controls, neuropathologically proven, from the uk. |
2015-11-09 |
2023-08-13 |
Not clear |
| Bradley J Hallam, Claudia Jacova, Ging-Yuek R Hsiung, Dana Wittenberg, Pheth Sengdy, Phoenix Bouchard-Kerr, Penny Slack, Rosa Rademakers, Matthew Baker, Tiffany W Chow, Brian Levine, Howard H Feldman, Ian R Mackenzi. Early neuropsychological characteristics of progranulin mutation carriers. Journal of the International Neuropsychological Society : JINS. vol 20. issue 7. 2015-04-06. PMID:24993774. |
we used a comprehensive neuropsychological battery to investigate whether early cognitive changes could be detected in grn mutation carriers before dementia onset. |
2015-04-06 |
2023-08-13 |
human |
| Michael E Ward, Alice Taubes, Robert Chen, Bruce L Miller, Chantelle F Sephton, Jeffrey M Gelfand, Sakura Minami, John Boscardin, Lauren Herl Martens, William W Seeley, Gang Yu, Joachim Herz, Anthony J Filiano, Andrew E Arrant, Erik D Roberson, Timothy W Kraft, Robert V Farese, Ari Green, Li Ga. Early retinal neurodegeneration and impaired Ran-mediated nuclear import of TDP-43 in progranulin-deficient FTLD. The Journal of experimental medicine. vol 211. issue 10. 2014-11-17. PMID:25155018. |
here, we report retinal thinning as an early disease phenotype in humans with grn mutations that precedes dementia onset and an age-dependent retinal neurodegenerative phenotype in grn-ko mice. |
2014-11-17 |
2023-08-13 |
mouse |
| Roberta Ghidoni, Rosa Flocco, Anna Paterlini, Michela Glionna, Loredana Caruana, Elisa Tonoli, Giuliano Binetti, Luisa Benuss. Secretory leukocyte protease inhibitor protein regulates the penetrance of frontotemporal lobar degeneration in progranulin mutation carriers. Journal of Alzheimer's disease : JAD. vol 38. issue 3. 2014-07-17. PMID:24018267. |
the discovery that mutations in the gene encoding for progranulin (grn) cause frontotemporal lobar degeneration (ftld) and other neurodegenerative diseases leading to dementia has brought renewed interest in progranulin and its functions in the central nervous system. |
2014-07-17 |
2023-08-12 |
human |
| Sarah Kittel-Schneider, Johannes Weigl, Julia Volkert, Alexandra Geßner, Brigitte Schmidt, Susanne Hempel, Tilman Kiel, David G Olmes, Jasmin Bartl, Heike Weber, Juliane Kopf, Andreas Rei. Further evidence for plasma progranulin as a biomarker in bipolar disorder. Journal of affective disorders. vol 157. 2014-04-25. PMID:24581833. |
a recent study suggested that progranulin (encoded by the fronto-temporal dementia risk gene grn) plasma levels are decreased in bipolar disorder (bd). |
2014-04-25 |
2023-08-12 |
Not clear |
| Clement T Loy, Peter R Schofield, Anne M Turner, John B J Kwo. Genetics of dementia. Lancet (London, England). vol 383. issue 9919. 2014-03-11. PMID:23927914. |
in this review, we focus on the evidence for, and the approach to, genetic testing in alzheimer's disease (app, psen1, and psen2 genes), frontotemporal dementia (mapt, grn, c9orf72, and other genes), and other familial dementias. |
2014-03-11 |
2023-08-12 |
Not clear |
| Celeste M Karch, Amanda T Jeng, Tara Skorupa, Carlos Cruchaga, Alison M Goat. Novel progranulin variants do not disrupt progranulin secretion and cleavage. Neurobiology of aging. vol 34. issue 11. 2014-03-05. PMID:23759146. |
deep sequencing of families exhibiting late-onset dementia revealed several novel variants in grn. |
2014-03-05 |
2023-08-12 |
Not clear |
| Beatrice Arosio, Carlo Abbate, Daniela Galimberti, Paolo Dionigi Rossi, Silvia Inglese, Chiara Fenoglio, Elisa Ridolfi, Cristina Gussago, Martina Casati, Enzo Tedone, Evelyn Ferri, Maria Serpente, Elio Scarpini, Daniela Mar. GRN Thr272fs clinical heterogeneity: a case with atypical late onset presenting with a dementia with Lewy bodies phenotype. Journal of Alzheimer's disease : JAD. vol 35. issue 4. 2013-12-10. PMID:23478307. |
grn thr272fs clinical heterogeneity: a case with atypical late onset presenting with a dementia with lewy bodies phenotype. |
2013-12-10 |
2023-08-12 |
Not clear |
| Beatrice Arosio, Carlo Abbate, Daniela Galimberti, Paolo Dionigi Rossi, Silvia Inglese, Chiara Fenoglio, Elisa Ridolfi, Cristina Gussago, Martina Casati, Enzo Tedone, Evelyn Ferri, Maria Serpente, Elio Scarpini, Daniela Mar. GRN Thr272fs clinical heterogeneity: a case with atypical late onset presenting with a dementia with Lewy bodies phenotype. Journal of Alzheimer's disease : JAD. vol 35. issue 4. 2013-12-10. PMID:23478307. |
we describe a case of late onset frontotemporal dementia carrying the g.1977_1980 delcact (thr272fs) mutation in progranulin (grn) gene, characterized by a positive family history for dementia and a clinical phenotype resembling dementia with lewy bodies. |
2013-12-10 |
2023-08-12 |
Not clear |
| Roberta Ghidoni, Anna Paterlini, Valentina Albertini, Giuliano Binetti, Luisa Benuss. Losing protein in the brain: the case of progranulin. Brain research. vol 1476. 2013-03-08. PMID:22348647. |
the wedding between progranulin and brain was celebrated in 2006 with the involvement of progranulin gene (grn) in frontotemporal lobar degeneration (ftld), the most common form of early-onset dementia: up to date, 75 mutations have been detected in ftld patients as well as in patients with widely variable clinical phenotypes. |
2013-03-08 |
2023-08-12 |
mouse |
| A J Larne. Intrafamilial clinical phenotypic heterogeneity with progranulin gene p.Glu498fs mutation. Journal of the neurological sciences. vol 316. issue 1-2. 2013-01-22. PMID:22280948. |
a patient with a progressive aphasia syndrome underwent progranulin gene (grn) testing in light of a family history of early-onset dementia in two of her brothers, one of whom had been previously examined and had the phenotype of frontal variant frontotemporal dementia. |
2013-01-22 |
2023-08-12 |
Not clear |
| Katherine R Smith, John Damiano, Silvana Franceschetti, Stirling Carpenter, Laura Canafoglia, Michela Morbin, Giacomina Rossi, Davide Pareyson, Sara E Mole, John F Staropoli, Katherine B Sims, Jada Lewis, Wen-Lang Lin, Dennis W Dickson, Hans-Henrik Dahl, Melanie Bahlo, Samuel F Berkovi. Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. American journal of human genetics. vol 90. issue 6. 2012-08-23. PMID:22608501. |
heterozygous mutations in grn are a major cause of frontotemporal lobar degeneration with tdp-43 inclusions (ftld-tdp), the second most common early-onset dementia. |
2012-08-23 |
2023-08-12 |
mouse |
| Hyeon-Sook Suh, Namjong Choi, Leonid Tarassishin, Sunhee C Le. Regulation of progranulin expression in human microglia and proteolysis of progranulin by matrix metalloproteinase-12 (MMP-12). PloS one. vol 7. issue 4. 2012-08-07. PMID:22509390. |
the essential role of progranulin (pgrn) as a neurotrophic factor has been demonstrated by the discovery that haploinsufficiency due to grn gene mutations causes frontotemporal lobar dementia. |
2012-08-07 |
2023-08-12 |
human |
| Carlos Cruchaga, Gabe Haller, Sumitra Chakraverty, Kevin Mayo, Francesco L M Vallania, Robi D Mitra, Kelley Faber, Jennifer Williamson, Tom Bird, Ramon Diaz-Arrastia, Tatiana M Foroud, Bradley F Boeve, Neill R Graff-Radford, Pamela St Jean, Michael Lawson, Margaret G Ehm, Richard Mayeux, Alison M Goat. Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families. PloS one. vol 7. issue 2. 2012-06-14. PMID:22312439. |
pathogenic mutations in app, psen1, psen2, mapt and grn have previously been linked to familial early onset forms of dementia. |
2012-06-14 |
2023-08-12 |
Not clear |
| Gabriella Marcon, Giacomina Rossi, Giorgio Giaccone, Anna Rita Giovagnoli, Elena Piccoli, Sergio Zanini, Onelio Geatti, Vito Toso, Marina Grisoli, Fabrizio Tagliavin. Variability of the clinical phenotype in an Italian family with dementia associated with an intronic deletion in the GRN gene. Journal of Alzheimer's disease : JAD. vol 26. issue 3. 2012-01-11. PMID:21677378. |
variability of the clinical phenotype in an italian family with dementia associated with an intronic deletion in the grn gene. |
2012-01-11 |
2023-08-12 |
Not clear |
| Giacomina Rossi, Elena Piccoli, Luisa Benussi, Francesca Caso, Veronica Redaelli, Giuseppe Magnani, Giuliano Binetti, Roberta Ghidoni, Daniela Perani, Giorgio Giaccone, Fabrizio Tagliavin. A novel progranulin mutation causing frontotemporal lobar degeneration with heterogeneous phenotypic expression. Journal of Alzheimer's disease : JAD. vol 23. issue 1. 2011-05-05. PMID:20930271. |
being predictive for grn null mutations, plasma progranulin dosage should be included in diagnostic work-up of dementia. |
2011-05-05 |
2023-08-12 |
Not clear |
| 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 |