| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Shaopeng Wang, Malgorzata J Latallo, Zhe Zhang, Bo Huang, Dmitriy G Bobrovnikov, Daoyuan Dong, Nathan M Livingston, Wilson Tjoeng, Lindsey R Hayes, Jeffrey D Rothstein, Lyle W Ostrow, Bin Wu, Shuying Su. Nuclear export and translation of circular repeat-containing intronic RNA in C9ORF72-ALS/FTD. Nature communications. vol 12. issue 1. 2021-08-30. PMID:34389711. |
c9orf72 hexanucleotide ggggcc repeat expansion is the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2021-08-30 |
2023-08-13 |
Not clear |
| Maya Maor-Nof, Zohar Shipony, Rodrigo Lopez-Gonzalez, Lisa Nakayama, Yong-Jie Zhang, Julien Couthouis, Jacob A Blum, Patricia A Castruita, Gabriel R Linares, Kai Ruan, Gokul Ramaswami, David J Simon, Aviv Nof, Manuel Santana, Kyuho Han, Nasa Sinnott-Armstrong, Michael C Bassik, Daniel H Geschwind, Marc Tessier-Lavigne, Laura D Attardi, Thomas E Lloyd, Justin K Ichida, Fen-Biao Gao, William J Greenleaf, Jennifer S Yokoyama, Leonard Petrucelli, Aaron D Gitle. p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR). Cell. vol 184. issue 3. 2021-08-24. PMID:33482083. |
the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) is a ggggcc repeat expansion in the c9orf72 gene. |
2021-08-24 |
2023-08-13 |
mouse |
| Brigid K Jensen, Martin H Schuldi, Kevin McAvoy, Katelyn A Russell, Ashley Boehringer, Bridget M Curran, Karthik Krishnamurthy, Xinmei Wen, Thomas Westergard, Le Ma, Aaron R Haeusler, Dieter Edbauer, Piera Pasinelli, Davide Trott. Synaptic dysfunction induced by glycine-alanine dipeptides in C9orf72-ALS/FTD is rescued by SV2 replenishment. EMBO molecular medicine. vol 12. issue 5. 2021-08-18. PMID:32347002. |
the most common cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) is an intronic hexanucleotide repeat expansion in the c9orf72 gene. |
2021-08-18 |
2023-08-13 |
mouse |
| Sigrid Klotz, Theresa König, Marcus Erdler, Andreas Ulram, Anita Nguyen, Thomas Ströbel, Alexander Zimprich, Elisabeth Stögmann, Günther Regelsberger, Romana Höftberger, Herbert Budka, Gabor G Kovacs, Ellen Gelp. Co-incidental C9orf72 expansion mutation-related frontotemporal lobar degeneration pathology and sporadic Creutzfeldt-Jakob disease. European journal of neurology. vol 28. issue 3. 2021-08-12. PMID:33131137. |
the c9orf72 hexanucleotide expansion mutation is the most common cause of genetic frontotemporal dementia (ftd), amyotrophic lateral sclerosis (als) and combined ftd-als. |
2021-08-12 |
2023-08-13 |
Not clear |
| Priya Gami-Patel, Irene van Dijken, Lieke H Meeter, Shamiram Melhem, Tjado H J Morrema, Wiep Scheper, John C van Swieten, Annemieke J M Rozemuller, Anke A Dijkstra, Jeroen J M Hoozeman. Unfolded protein response activation in C9orf72 frontotemporal dementia is associated with dipeptide pathology and granulovacuolar degeneration in granule cells. Brain pathology (Zurich, Switzerland). vol 31. issue 1. 2021-08-11. PMID:32865835. |
unfolded protein response activation in c9orf72 frontotemporal dementia is associated with dipeptide pathology and granulovacuolar degeneration in granule cells. |
2021-08-11 |
2023-08-13 |
human |
| Priya Gami-Patel, Irene van Dijken, Lieke H Meeter, Shamiram Melhem, Tjado H J Morrema, Wiep Scheper, John C van Swieten, Annemieke J M Rozemuller, Anke A Dijkstra, Jeroen J M Hoozeman. Unfolded protein response activation in C9orf72 frontotemporal dementia is associated with dipeptide pathology and granulovacuolar degeneration in granule cells. Brain pathology (Zurich, Switzerland). vol 31. issue 1. 2021-08-11. PMID:32865835. |
a repeat expansion in the c9orf72 gene is the most prevalent genetic cause of frontotemporal dementia (c9-ftd). |
2021-08-11 |
2023-08-13 |
human |
| Melanie T Gentry, Maria I Lapid, Jeremy Syrjanen, Kendrick Calvert, Samantha Hughes, Danielle Brushaber, Walter Kremers, Jessica Bove, Patrick Brannelly, Giovanni Coppola, Christina Dheel, Bradley Dickerson, Susan Dickinson, Kelley Faber, Julie Fields, Jamie Fong, Tatiana Foroud, Leah Forsberg, Ralitza Gavrilova, Deb Gearhart, Nupur Ghoshal, Jill Goldman, Jonathan Graff-Radford, Neill Graff-Radford, Murray Grossman, Dana Haley, Hilary Heuer, Ging-Yuek Hsiung, Edward Huey, David Irwin, David Jones, Lynne Jones, Kejal Kantarci, Anna Karydas, David Knopman, John Kornak, Joel Kramer, Walter Kukull, Diane Lucente, Codrin Lungu, Ian Mackenzie, Masood Manoochehri, Scott McGinnis, Bruce Miller, Rodney Pearlman, Len Petrucelli, Madeline Potter, Rosa Rademakers, Eliana Marisa Ramos, Katherine Rankin, Katya Rascovsky, Pheth Sengdy, Leslie Shaw, Nadine Tatton, Joanne Taylor, Arthur Toga, John Trojanowski, Sandra Weintraub, Bonnie Wong, Zbigniew Wszolek, Bradley F Boeve, Adam Boxer, Howard Rose. Quality of life and caregiver burden in familial frontotemporal lobar degeneration: Analyses of symptomatic and asymptomatic individuals within the LEFFTDS cohort. Alzheimer's & dementia : the journal of the Alzheimer's Association. vol 16. issue 8. 2021-08-09. PMID:32656921. |
the longitudinal evaluation of familial frontotemporal dementia subjects evaluates familial frontotemporal lobar degeneration (ftld) kindreds with mapt, grn, or c9orf72 mutations. |
2021-08-09 |
2023-08-13 |
human |
| Yu A Shpilyukova, E Yu Fedotova, N Yu Abramycheva, I A Kochergin, I V Zakroyshchikova, M N Zakharova, S N Illarioshki. C9orf72 Gene Expression in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. Bulletin of experimental biology and medicine. vol 169. issue 5. 2021-08-09. PMID:32990847. |
c9orf72 gene expression in frontotemporal dementia and amyotrophic lateral sclerosis. |
2021-08-09 |
2023-08-13 |
Not clear |
| Yu A Shpilyukova, E Yu Fedotova, N Yu Abramycheva, I A Kochergin, I V Zakroyshchikova, M N Zakharova, S N Illarioshki. C9orf72 Gene Expression in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. Bulletin of experimental biology and medicine. vol 169. issue 5. 2021-08-09. PMID:32990847. |
we studied the expression of c9orf72 gene in pathologies associated with hexanucleotide repeats expansion in this gene: frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als). |
2021-08-09 |
2023-08-13 |
Not clear |
| Israel Ben-Dor, Crystal Pacut, Yuval Nevo, Eva L Feldman, Benjamin E Reubinof. Characterization of C9orf72 haplotypes to evaluate the effects of normal and pathological variations on its expression and splicing. PLoS genetics. vol 17. issue 3. 2021-08-02. PMID:33780440. |
expansion of the hexanucleotide repeat (hr) in the first intron of the c9orf72 gene is the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) in caucasians. |
2021-08-02 |
2023-08-13 |
Not clear |
| Alice S Chen-Plotki. Of mice and men: What a mouse model of microglial C9ORF72 deficiency does-and does not-tell us about human neurodegenerative diseases. Neuron. vol 109. issue 14. 2021-07-28. PMID:34293287. |
expansions in c9orf72, which cause frontotemporal dementia and amyotrophic lateral sclerosis, result in formation of aberrant peptide and rna species and decreased expression of the normal gene. |
2021-07-28 |
2023-08-13 |
mouse |
| Qihui Zhou, Nikola Mareljic, Meike Michaelsen, Samira Parhizkar, Steffanie Heindl, Brigitte Nuscher, Daniel Farny, Mareike Czuppa, Carina Schludi, Alexander Graf, Stefan Krebs, Helmut Blum, Regina Feederle, Stefan Roth, Christian Haass, Thomas Arzberger, Arthur Liesz, Dieter Edbaue. Active poly-GA vaccination prevents microglia activation and motor deficits in a C9orf72 mouse model. EMBO molecular medicine. vol 12. issue 2. 2021-07-27. PMID:31858749. |
the c9orf72 repeat expansion is the most common genetic cause of amyotrophic lateral sclerosis (als) and/or frontotemporal dementia (ftd). |
2021-07-27 |
2023-08-13 |
mouse |
| Joana Prota, Liara Rizzi, Luciana Bonadia, Leonardo Cruz de Souza, Paulo Caramelli, Rodrigo Secolin, Iscia Lopes-Cendes, Marcio L F Balthaza. Slowly progressive behavioral frontotemporal dementia syndrome in a family co-segregating the C9orf72 expansion and a Synaptophysin mutation. Alzheimer's & dementia : the journal of the Alzheimer's Association. 2021-07-26. PMID:34310040. |
slowly progressive behavioral frontotemporal dementia syndrome in a family co-segregating the c9orf72 expansion and a synaptophysin mutation. |
2021-07-26 |
2023-08-13 |
Not clear |
| Joana Prota, Liara Rizzi, Luciana Bonadia, Leonardo Cruz de Souza, Paulo Caramelli, Rodrigo Secolin, Iscia Lopes-Cendes, Marcio L F Balthaza. Slowly progressive behavioral frontotemporal dementia syndrome in a family co-segregating the C9orf72 expansion and a Synaptophysin mutation. Alzheimer's & dementia : the journal of the Alzheimer's Association. 2021-07-26. PMID:34310040. |
our study presents the first familial case of behavioral variant frontotemporal dementia associated with the co-occurrence of the repeat expansion in c9orf72 and a pathogenic variant in the syp gene. |
2021-07-26 |
2023-08-13 |
Not clear |
| Martina Bocchetta, Juan E Iglesias, Mollie Neason, David M Cash, Jason D Warren, Jonathan D Rohre. Thalamic nuclei in frontotemporal dementia: Mediodorsal nucleus involvement is universal but pulvinar atrophy is unique to C9orf72. Human brain mapping. vol 41. issue 4. 2021-07-23. PMID:31696638. |
thalamic nuclei in frontotemporal dementia: mediodorsal nucleus involvement is universal but pulvinar atrophy is unique to c9orf72. |
2021-07-23 |
2023-08-13 |
Not clear |
| Kejing Zhang, Ailian Wang, Keke Zhong, Shuyuan Qi, Chen Wei, Xiaoqiu Shu, Wen-Yo Tu, Wentao Xu, Congcong Xia, Yatao Xiao, Aizhong Chen, Lei Bai, Jianmin Zhang, Benyan Luo, Wenyuan Wang, Chengyong She. UBQLN2-HSP70 axis reduces poly-Gly-Ala aggregates and alleviates behavioral defects in the C9ORF72 animal model. Neuron. vol 109. issue 12. 2021-07-20. PMID:33991504. |
expansion of a hexanucleotide repeat ggggcc (g4c2) in the intron of the c9orf72 gene is the most common cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) (c9-als/ftd). |
2021-07-20 |
2023-08-13 |
Not clear |
| Zongbing Hao, Rui Wang, Haigang Ren, Guanghui Wan. Role of the C9ORF72 Gene in the Pathogenesis of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Neuroscience bulletin. vol 36. issue 9. 2021-07-19. PMID:32860626. |
role of the c9orf72 gene in the pathogenesis of amyotrophic lateral sclerosis and frontotemporal dementia. |
2021-07-19 |
2023-08-13 |
mouse |
| Zongbing Hao, Rui Wang, Haigang Ren, Guanghui Wan. Role of the C9ORF72 Gene in the Pathogenesis of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Neuroscience bulletin. vol 36. issue 9. 2021-07-19. PMID:32860626. |
since the discovery of the c9orf72 gene in 2011, great advances have been achieved in its genetics and in identifying its role in disease models and pathological mechanisms; it is the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2021-07-19 |
2023-08-13 |
mouse |
| Xiaoqiang Tang, Arturo Toro, Sahana T G, Junli Gao, Jessica Chalk, Björn Oskarsson, Ke Zhan. Divergence, Convergence, and Therapeutic Implications: A Cell Biology Perspective of C9ORF72-ALS/FTD. Molecular neurodegeneration. vol 15. issue 1. 2021-07-01. PMID:32513219. |
ever since a ggggcc hexanucleotide repeat expansion mutation in c9orf72 was identified as the most common cause of familial amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd), three competing but nonexclusive hypotheses to explain how this mutation causes diseases have been proposed and are still under debate. |
2021-07-01 |
2023-08-13 |
Not clear |
| Yanyan Geng, Changdong Liu, Qixu Cai, Zhipu Luo, Haitao Miao, Xiao Shi, Naining Xu, Chun Po Fung, To To Choy, Bing Yan, Ning Li, Peiyuan Qian, Bo Zhou, Guang Zh. Crystal structure of parallel G-quadruplex formed by the two-repeat ALS- and FTD-related GGGGCC sequence. Nucleic acids research. vol 49. issue 10. 2021-06-25. PMID:34048588. |
the hexanucleotide repeat expansion, ggggcc (g4c2), within the first intron of the c9orf72 gene is known to be the most common genetic cause of both amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2021-06-25 |
2023-08-13 |
Not clear |