| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| b' Elka Stefanova, Ana Marjanovi\\xc4\\x87, Valerija Dobri\\xc4\\x8di\\xc4\\x87, Gorana Mandi\\xc4\\x87-Stojmenovi\\xc4\\x87, Tanja Stojkovi\\xc4\\x87, Marija Brankovi\\xc4\\x87, Maksim \\xc5\\xa0ar\\xc4\\x8devi\\xc4\\x87, Ivana Novakovi\\xc4\\x87, Vladimir S Kosti\\xc4\\x8. Frequency of C9orf72, GRN, and MAPT pathogenic variants in patients recruited at the Belgrade Memory Center. Neurogenetics. 2024-06-07. PMID:38847891.' |
most of the heritability in frontotemporal dementia (ftd) is accounted for by autosomal dominant hexanucleotide expansion in the chromosome 9 open reading frame 72 (c9orf72), pathogenic/likely pathogenic variants in progranulin (grn), and microtubule-associated protein tau (mapt) genes. |
2024-06-07 |
2024-06-10 |
human |
| Aurélie Bussy, Jake P Levy, Tristin Best, Raihaan Patel, Lani Cupo, Tim Van Langenhove, Jørgen E Nielsen, Yolande Pijnenburg, Maria Landqvist Waldö, Anne M Remes, Matthias L Schroeter, Isabel Santana, Florence Pasquier, Markus Otto, Adrian Danek, Johannes Levin, Isabelle Le Ber, Rik Vandenberghe, Matthis Synofzik, Fermin Moreno, Alexandre de Mendonça, Raquel Sanchez-Valle, Robert Laforce, Tobias Langheinrich, Alexander Gerhard, Caroline Graff, Chris R Butler, Sandro Sorbi, Lize Jiskoot, Harro Seelaar, John C van Swieten, Elizabeth Finger, Maria Carmela Tartaglia, Mario Masellis, Pietro Tiraboschi, Daniela Galimberti, Barbara Borroni, James B Rowe, Martina Bocchetta, Jonathan D Rohrer, Gabriel A Devenyi, M Mallar Chakravarty, Simon Ducharm. Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia. Human brain mapping. 2023-03-10. PMID:36895129. |
recent studies have reported early cerebellar and subcortical impact in the disease progression of genetic frontotemporal dementia (ftd) due to microtubule-associated protein tau (mapt), progranulin (grn) and chromosome 9 open reading frame 72 (c9orf72). |
2023-03-10 |
2023-08-14 |
human |
| Arabella Bouzigues, Lucy L Russell, Georgia Peakman, Martina Bocchetta, Caroline V Greaves, Rhian S Convery, Emily Todd, James B Rowe, Barbara Borroni, Daniela Galimberti, Pietro Tiraboschi, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, John C van Swieten, Harro Seelaar, Lize Jiskoot, Sandro Sorbi, Chris R Butler, Caroline Graff, Alexander Gerhard, Tobias Langheinrich, Robert Laforce, Raquel Sanchez-Valle, Alexandre de Mendonça, Fermin Moreno, Matthis Synofzik, Rik Vandenberghe, Simon Ducharme, Isabelle Le Ber, Johannes Levin, Adrian Danek, Markus Otto, Florence Pasquier, Isabel Santana, Jonathan D Rohre. Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations. Journal of neurology. 2022-03-29. PMID:35348856. |
a third of frontotemporal dementia (ftd) is caused by an autosomal-dominant genetic mutation in one of three genes: microtubule-associated protein tau (mapt), chromosome 9 open reading frame 72 (c9orf72) and progranulin (grn). |
2022-03-29 |
2023-08-13 |
Not clear |
| Nadine Huber, Sonja Korhonen, Dorit Hoffmann, Stina Leskelä, Hannah Rostalski, Anne M Remes, Paavo Honkakoski, Eino Solje, Annakaisa Haapasal. Deficient neurotransmitter systems and synaptic function in frontotemporal lobar degeneration-Insights into disease mechanisms and current therapeutic approaches. Molecular psychiatry. 2021-11-20. PMID:34799692. |
this review summarizes the present knowledge on neurotransmitter system deficits and synaptic dysfunction in model systems and patients harbouring the most common genetic causes of ftld, the hexanucleotide repeat expansion in c9orf72 and mutations in the granulin (grn) and microtubule-associated protein tau (mapt) genes. |
2021-11-20 |
2023-08-13 |
Not clear |
| Bradley F Boeve, Howard Rose. Clinical and Neuroimaging Aspects of Familial Frontotemporal Lobar Degeneration Associated with MAPT and GRN Mutations. Advances in experimental medicine and biology. vol 1281. 2021-02-15. PMID:33433870. |
numerous kindreds with familial frontotemporal lobar degeneration have been linked to mutations in microtubule-associated protein tau (mapt) or progranulin (grn) genes. |
2021-02-15 |
2023-08-13 |
Not clear |
| Estrella Gómez-Tortosa, Yalda Baradaran-Heravi, Valentina González Alvarez, María José Sainz, Cristina Prieto-Jurczynska, Rosa Guerrero-López, Pablo Agüero Rabes, Christine Van Broeckhoven, Julie van der Zee, Alberto Rábano Gutiérre. Presence of tau astrogliopathy in frontotemporal dementia caused by a novel Grn nonsense (Trp2*) mutation. Neurobiology of aging. vol 76. 2019-12-06. PMID:30545478. |
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. |
2019-12-06 |
2023-08-13 |
Not clear |
| Estrella Gómez-Tortosa, Yalda Baradaran-Heravi, Valentina González Alvarez, María José Sainz, Cristina Prieto-Jurczynska, Rosa Guerrero-López, Pablo Agüero Rabes, Christine Van Broeckhoven, Julie van der Zee, Alberto Rábano Gutiérre. Presence of tau astrogliopathy in frontotemporal dementia caused by a novel Grn nonsense (Trp2*) mutation. Neurobiology of aging. vol 76. 2019-12-06. PMID:30545478. |
presence of tau astrogliopathy in frontotemporal dementia caused by a novel grn nonsense (trp2*) mutation. |
2019-12-06 |
2023-08-13 |
Not clear |
| Lize C Jiskoot, Jessica L Panman, Lieke H Meeter, Elise G P Dopper, Laura Donker Kaat, Sanne Franzen, Emma L van der Ende, Rick van Minkelen, Serge A R B Rombouts, Janne M Papma, John C van Swiete. Longitudinal multimodal MRI as prognostic and diagnostic biomarker in presymptomatic familial frontotemporal dementia. Brain : a journal of neurology. vol 142. issue 1. 2019-08-20. PMID:30508042. |
in the longitudinal frontotemporal dementia risk cohort, presymptomatic mutation carriers and non-carriers from families with familial frontotemporal dementia due to microtubule-associated protein tau (mapt) and progranulin (grn) mutations underwent a clinical assessment and multimodal mri at baseline, 2-, and 4-year follow-up. |
2019-08-20 |
2023-08-13 |
human |
| Masato Hosokawa, Yoshinori Tanaka, Tetsuaki Arai, Hiromi Kondo, Haruhiko Akiyama, Masato Hasegaw. Progranulin haploinsufficiency reduces amyloid beta deposition in Alzheimer's disease model mice. Experimental animals. vol 67. issue 1. 2018-06-22. PMID:28845019. |
moreover, recent findings indicate that grn mutations are associated with other neurodegenerative disorders with tau pathology, including alzheimer's disease. |
2018-06-22 |
2023-08-13 |
mouse |
| Xiang-Qian Che, Qian-Hua Zhao, Yue Huang, Xia Li, Ru-Jing Ren, Sheng-Di Chen, Gang Wang, Qi-Hao Gu. Genetic Features of MAPT, GRN, C9orf72 and CHCHD10 Gene Mutations in Chinese Patients with Frontotemporal Dementia. Current Alzheimer research. vol 14. issue 10. 2018-05-29. PMID:28462717. |
mutations in microtubule associated protein tau (mapt), progranulin (grn), chromosome 9 open-reading frame 72 (c9orf72) and chchd10 genes have been reported causing frontotemporal dementia (ftd) in different populations. |
2018-05-29 |
2023-08-13 |
Not clear |
| David M A Mann, Julie S Snowde. Frontotemporal lobar degeneration: Pathogenesis, pathology and pathways to phenotype. Brain pathology (Zurich, Switzerland). vol 27. issue 6. 2018-01-26. PMID:28100023. |
there are three major associated clinical syndromes, behavioral variant frontotemporal dementia (bvftd), semantic dementia (sd) and progressive non-fluent aphasia (pnfa); three principal histologies, involving tau, tdp-43 and fus proteins; and mutations in three major genes, mapt, grn and c9orf72, along with several other less common gene mutations. |
2018-01-26 |
2023-08-13 |
Not clear |
| Leonel T Takada, Valeria S Bahia, Henrique C Guimarães, Thais V M M Costa, Thiago C Vale, Roberta D Rodriguez, Fabio H G Porto, João C B Machado, Rogério G Beato, Karolina G Cesar, Jerusa Smid, Camila F Nascimento, Lea T Grinberg, Sonia M D Brucki, Jessica R Maximino, Sarah T Camargos, Gerson Chadi, Paulo Caramelli, Ricardo Nitrin. GRN and MAPT Mutations in 2 Frontotemporal Dementia Research Centers in Brazil. Alzheimer disease and associated disorders. vol 30. issue 4. 2017-11-16. PMID:27082848. |
mutations in grn (progranulin) and mapt (microtubule-associated protein tau) are among the most frequent causes of monogenic frontotemporal dementia (ftd), but data on the frequency of these mutations in regions such as latin america are still lacking. |
2017-11-16 |
2023-08-13 |
Not clear |
| Gamze Guven, Ebba Lohmann, Jose Bras, J Raphael Gibbs, Hakan Gurvit, Basar Bilgic, Hasmet Hanagasi, Patrizia Rizzu, Peter Heutink, Murat Emre, Nihan Erginel-Unaltuna, Walter Just, John Hardy, Andrew Singleton, Rita Guerreir. Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients. PloS one. vol 11. issue 9. 2017-08-02. PMID:27632209. |
'microtubule-associated protein tau' (mapt), 'granulin' (grn) and 'chromosome 9 open reading frame72' (c9orf72) gene mutations are the major known genetic causes of frontotemporal dementia (ftd). |
2017-08-02 |
2023-08-13 |
Not clear |
| Hideyuki Takahashi, Zoe A Klein, Sarah M Bhagat, Adam C Kaufman, Mikhail A Kostylev, Tsuneya Ikezu, Stephen M Strittmatte. Opposing effects of progranulin deficiency on amyloid and tau pathologies via microglial TYROBP network. Acta neuropathologica. vol 133. issue 5. 2017-04-20. PMID:28070672. |
here, we show that the grn ad risk variant has no significant effects on florbetapir positron emission tomographic amyloid imaging and cerebrospinal fluid (csf) aβ levels, whereas it is associated with increased csf tau levels in human subjects of the alzheimer's disease neuroimaging initiative studies. |
2017-04-20 |
2023-08-13 |
mouse |
| 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 |
| J L Whitwell, B F Boeve, S D Weigand, M L Senjem, J L Gunter, M C Baker, M DeJesus-Hernandez, D S Knopman, Z K Wszolek, R C Petersen, R Rademakers, C R Jack, K A Joseph. Brain atrophy over time in genetic and sporadic frontotemporal dementia: a study of 198 serial magnetic resonance images. European journal of neurology. vol 22. issue 5. 2015-12-03. PMID:25683866. |
the aim of our study was to determine the utility of longitudinal magnetic resonance imaging (mri) measurements as potential biomarkers in the main genetic variants of frontotemporal dementia (ftd), including microtubule-associated protein tau (mapt) and progranulin (grn) mutations and c9orf72 repeat expansions, as well as sporadic ftd. |
2015-12-03 |
2023-08-13 |
Not clear |
| Eoin P Flanagan, Matthew C Baker, Ralph B Perkerson, Joseph R Duffy, Edythe A Strand, Jennifer L Whitwell, Mary M Machulda, Rosa Rademakers, Keith A Joseph. Dominant frontotemporal dementia mutations in 140 cases of primary progressive aphasia and speech apraxia. Dementia and geriatric cognitive disorders. vol 39. issue 5-6. 2015-10-22. PMID:25765123. |
mutations in three genes [chromosome 9 open-reading-frame 72 (c9orf72); microtubule-associated protein tau (mapt) and progranulin (grn)] account for the vast majority of familial, and a proportion of sporadic, frontotemporal dementia (ftd) cases. |
2015-10-22 |
2023-08-13 |
Not clear |
| Masato Hosokawa, Tetsuaki Arai, Masami Masuda-Suzukake, Hiromi Kondo, Takashi Matsuwaki, Masugi Nishihara, Masato Hasegawa, Haruhiko Akiyam. Progranulin reduction is associated with increased tau phosphorylation in P301L tau transgenic mice. Journal of neuropathology and experimental neurology. vol 74. issue 2. 2015-03-17. PMID:25575133. |
to investigate the potential influence of a decline in pgrn protein on tau accumulation, p301l tau transgenic mice were interbred with grn-deficient mice, producing p301l tau transgenic mice harboring the grn hemizygote. |
2015-03-17 |
2023-08-13 |
mouse |
| Masato Hosokawa, Tetsuaki Arai, Masami Masuda-Suzukake, Hiromi Kondo, Takashi Matsuwaki, Masugi Nishihara, Masato Hasegawa, Haruhiko Akiyam. Progranulin reduction is associated with increased tau phosphorylation in P301L tau transgenic mice. Journal of neuropathology and experimental neurology. vol 74. issue 2. 2015-03-17. PMID:25575133. |
moreover, recent findings indicate that grn mutations are associated with other neurodegenerative disorders with tau pathology, including alzheimer disease and corticobasal degeneration. |
2015-03-17 |
2023-08-13 |
mouse |
| Joseph H Lee, Amanda Kahn, Rong Cheng, Christiane Reitz, Badri Vardarajan, Rafael Lantigua, Martin Medrano, Ivonne Z Jiménez-Velázquez, Jennifer Williamson, Peter Nagy, Richard Mayeu. Disease-related mutations among Caribbean Hispanics with familial dementia. Molecular genetics & genomic medicine. vol 2. issue 5. 2014-10-21. PMID:25333068. |
in addition, mutations in the frontotemporal lobar degeneration (ftld) genes - the microtubule-associated protein tau (mapt), granulin (grn) - have also been found to be associated with clinical ad. |
2014-10-21 |
2023-08-13 |
Not clear |