| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Esther N Bit-Ivan, Eunran Suh, Hyung-Sub Shim, Sandra Weintraub, Bradley T Hyman, Steven E Arnold, Elisabeth McCarty-Wood, Viviana M Van Deerlin, Julie A Schneider, John Q Trojanowski, Matthew P Frosch, Matt C Baker, Rosa Rademakers, Marsel Mesulam, Eileen H Bigi. A novel GRN mutation (GRN c.708+6_+9delTGAG) in frontotemporal lobar degeneration with TDP-43-positive inclusions: clinicopathologic report of 6 cases. Journal of neuropathology and experimental neurology. vol 73. issue 5. 2014-06-05. PMID:24709683. |
mutations in 7 known genes (mapt, grn, c9orf72, vcp, chmp2b, and, rarely, tardbp and fus) are associated with frontotemporal dementia, and the pathologic classification of frontotemporal lobar degeneration has recently been modified to reflect these discoveries. |
2014-06-05 |
2023-08-13 |
Not clear |
| Carolina Pires, Miguel Coelho, Anabela Valadas, Cândida Barroso, José Pimentel, Madalena Martins, Charles Duyckaerts, Alexandre de Mendonça, Ana Verdelho, Gabriel Miltenberger-Milteny. Phenotypic variability of familial and sporadic Progranulin p.Gln257Profs*27 mutation. Journal of Alzheimer's disease : JAD. vol 37. issue 2. 2014-04-15. PMID:23813535. |
the clinical phenotype of frontotemporal dementia patients carrying progranulin (grn) mutations is known to be heterogeneous. |
2014-04-15 |
2023-08-12 |
Not clear |
| Enrico Premi, Anna Formenti, Stefano Gazzina, Silvana Archetti, Roberto Gasparotti, Alessandro Padovani, Barbara Borron. Effect of TMEM106B polymorphism on functional network connectivity in asymptomatic GRN mutation carriers. JAMA neurology. vol 71. issue 2. 2014-04-08. PMID:24343233. |
granulin (grn) mutations represent one of the most frequent genetic causes of inherited frontotemporal dementia. |
2014-04-08 |
2023-08-12 |
Not clear |
| Enrico Premi, Anna Formenti, Stefano Gazzina, Silvana Archetti, Roberto Gasparotti, Alessandro Padovani, Barbara Borron. Effect of TMEM106B polymorphism on functional network connectivity in asymptomatic GRN mutation carriers. JAMA neurology. vol 71. issue 2. 2014-04-08. PMID:24343233. |
it has been demonstrated that the tmem106b polymorphism is associated with grn-related frontotemporal dementia and affects age at onset in grn mutation carriers. |
2014-04-08 |
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. |
a subset of frontotemporal dementia cases are neuropathologically defined by tau-negative, tar dna-binding protein-43, and ubiquitin-positive inclusions in the brain and are associated with mutations in the progranulin gene (grn). |
2014-03-05 |
2023-08-12 |
Not clear |
| Chiara Cerami, Alessandra Marcone, Daniela Galimberti, Chiara Villa, Chiara Fenoglio, Elio Scarpini, Stefano F Capp. Novel missense progranulin gene mutation associated with the semantic variant of primary progressive aphasia. Journal of Alzheimer's disease : JAD. vol 36. issue 3. 2014-02-17. PMID:23624518. |
progranulin (grn) mutations are typically associated with the behavioral variant of frontotemporal dementia and the non-fluent variant of primary progressive aphasia phenotypes. |
2014-02-17 |
2023-08-12 |
human |
| 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 |
| Claudia Jacova, Ging-Yuek R Hsiung, Itthipol Tawankanjanachot, Katie Dinelle, Siobhan McCormick, Marjorie Gonzalez, Hyunsoo Lee, Pheth Sengdy, Phoenix Bouchard-Kerr, Matthew Baker, Rosa Rademakers, Vesna Sossi, A Jon Stoessl, Howard H Feldman, Ian R Mackenzi. Anterior brain glucose hypometabolism predates dementia in progranulin mutation carriers. Neurology. vol 81. issue 15. 2013-11-27. PMID:24005336. |
in this prospective cohort study, we investigated cerebral glucose metabolism reductions on [(18)f]-fluorodeoxyglucose (fdg)-pet in progranulin (grn) mutation carriers prior to frontotemporal dementia (ftd) onset. |
2013-11-27 |
2023-08-12 |
Not clear |
| Andreas Puschman. Monogenic Parkinson's disease and parkinsonism: clinical phenotypes and frequencies of known mutations. Parkinsonism & related disorders. vol 19. issue 4. 2013-09-06. PMID:23462481. |
changes in a long list of additional genes have been suggested as causes for parkinsonism or pd, including genes for hereditary ataxias (atxn2, atxn3, fmr1), frontotemporal dementia (c9orf72, grn, mapt, tardbp), dyt5 (gch1, th, spr), and others (atp13a2, csf1r, dnajc6, fbxo, gigyf2, htra2, pla2g6, polg, spg11, uchl1). |
2013-09-06 |
2023-08-12 |
Not clear |
| Xi Chen, Jianjun Chang, Qiudong Deng, Jie Xu, Thi A Nguyen, Lauren H Martens, Basar Cenik, Georgia Taylor, Kathryn F Hudson, Jaegwon Chung, Kimberley Yu, Phillip Yu, Joachim Herz, Robert V Farese, Thomas Kukar, Malú G Tanse. Progranulin does not bind tumor necrosis factor (TNF) receptors and is not a direct regulator of TNF-dependent signaling or bioactivity in immune or neuronal cells. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 33. issue 21. 2013-08-09. PMID:23699531. |
progranulin (pgrn) is a secreted glycoprotein expressed in neurons and glia that is implicated in neuronal survival on the basis that mutations in the grn gene causing haploinsufficiency result in a familial form of frontotemporal dementia (ftd). |
2013-08-09 |
2023-08-12 |
mouse |
| Gernot Kleinberger, Anja Capell, Christian Haass, Christine Van Broeckhove. Mechanisms of granulin deficiency: lessons from cellular and animal models. Molecular neurobiology. vol 47. issue 1. 2013-06-04. PMID:23239020. |
the identification of causative mutations in the (pro)granulin gene (grn) has been a major breakthrough in the research on frontotemporal dementia (ftd). |
2013-06-04 |
2023-08-12 |
Not clear |
| Andrew D Nguyen, Thi A Nguyen, Basar Cenik, Gang Yu, Joachim Herz, Tobias C Walther, W Sean Davidson, Robert V Fares. Secreted progranulin is a homodimer and is not a component of high density lipoproteins (HDL). The Journal of biological chemistry. vol 288. issue 12. 2013-05-15. PMID:23364791. |
progranulin is a secreted glycoprotein, and the grn gene is mutated in some cases of frontotemporal dementia. |
2013-05-15 |
2023-08-12 |
mouse |
| Petra E Cohn-Hokke, Mariet W Elting, Yolande A L Pijnenburg, John C van Swiete. Genetics of dementia: update and guidelines for the clinician. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. vol 159B. issue 6. 2013-04-09. PMID:22815225. |
familial frontotemporal dementia may be associated with a mutation in the mapt or grn gene, or with a repeat expansion in the c9orf72 gene. |
2013-04-09 |
2023-08-12 |
Not clear |
| 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 |
| Sheng Chih Jin, Pau Pastor, Breanna Cooper, Sebastian Cervantes, Bruno A Benitez, Cristina Razquin, Alison Goate, Carlos Cruchag. Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort. Alzheimer's research & therapy. vol 4. issue 4. 2012-11-29. PMID:22906081. |
mutations in grn and mapt, two genes associated with frontotemporal dementia (ftd), have been found in clinically diagnosed ad cases. |
2012-11-29 |
2023-08-12 |
human |
| Francesca Caso, Chiara Villa, Chiara Fenoglio, Roberto Santangelo, Federica Agosta, Elisabetta Coppi, Monica Falautano, Giancarlo Comi, Massimo Filippi, Elio Scarpini, Giuseppe Magnani, Daniela Galimbert. The progranulin (GRN) Cys157LysfsX97 mutation is associated with nonfluent variant of primary progressive aphasia clinical phenotype. Journal of Alzheimer's disease : JAD. vol 28. issue 4. 2012-09-17. PMID:22072213. |
the progranulin gene (grn) g.10325_10331delctgctgt (relative to nt1 in ng_007886.1), alias cys157lysfsx97, has been so far reported only once in a patient with frontotemporal dementia. |
2012-09-17 |
2023-08-12 |
Not clear |
| Ricardo Taipa, Assunção Tuna, Joana Damásio, Pedro S Pinto, Sara Cavaco, Sonia Pereira, Gabriel Milterberger-Miltenyi, Daniela Galimberti, Manuel Melo-Pire. Clinical, neuropathological, and genetic characteristics of the novel IVS9+1delG GRN mutation in a patient with frontotemporal dementia. Journal of Alzheimer's disease : JAD. vol 30. issue 1. 2012-09-10. PMID:22366770. |
clinical, neuropathological, and genetic characteristics of the novel ivs9+1delg grn mutation in a patient with frontotemporal dementia. |
2012-09-10 |
2023-08-12 |
Not clear |
| Ricardo Taipa, Assunção Tuna, Joana Damásio, Pedro S Pinto, Sara Cavaco, Sonia Pereira, Gabriel Milterberger-Miltenyi, Daniela Galimberti, Manuel Melo-Pire. Clinical, neuropathological, and genetic characteristics of the novel IVS9+1delG GRN mutation in a patient with frontotemporal dementia. Journal of Alzheimer's disease : JAD. vol 30. issue 1. 2012-09-10. PMID:22366770. |
herein, we describe the clinical, neuropathological, and genetic findings in a case of autosomal dominant behavioral variant of frontotemporal dementia (bvftd) with asymmetrical parkinsonism and prominent visuospatial deficits that carries a novel grn mutation. |
2012-09-10 |
2023-08-12 |
Not clear |
| Eric M Wexler, Ezra Rosen, Daning Lu, Gregory E Osborn, Elizabeth Martin, Helen Raybould, Daniel H Geschwin. Genome-wide analysis of a Wnt1-regulated transcriptional network implicates neurodegenerative pathways. Science signaling. vol 4. issue 193. 2012-01-19. PMID:21971039. |
wnt effectors were tightly clustered with presenilin1 (psen1) and granulin (grn), which cause dominantly inherited forms of alzheimer's disease and frontotemporal dementia (ftd), respectively. |
2012-01-19 |
2023-08-12 |
human |