| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Zhongbo Chen, Kuang Lin, Jeffrey D Macklis, Ammar Al-Chalab. Proposed association between the hexanucleotide repeat of C9orf72 and opposability index of the thumb. Amyotrophic lateral sclerosis & frontotemporal degeneration. vol 18. issue 3-4. 2018-02-26. PMID:28010125. |
the pathophysiology of the c9orf72 repeat is not yet understood, despite its role as a common cause of als and frontotemporal dementia. |
2018-02-26 |
2023-08-13 |
human |
| Hasan Alniss, Bita Zamiri, Melisa Khalaj, Christopher E Pearson, Robert B Macgrego. Thermodynamic and spectroscopic investigations of TMPyP4 association with guanine- and cytosine-rich DNA and RNA repeats of C9orf72. Biochemical and biophysical research communications. vol 495. issue 4. 2018-02-22. PMID:29274339. |
an expansion of the hexanucleotide repeat (ggggcc)n·(ggcccc)n in the c9orf72 promoter has been shown to be the cause of amyotrophic lateral sclerosis and frontotemporal dementia (als-ftd). |
2018-02-22 |
2023-08-13 |
Not clear |
| M Fernández Suarez, Ezequiel Surace, P Harris, F Tapajoz, G Sevlever, R Allegri, G N Russ. C9ORF72 G4C2-repeat expansion and frontotemporal dementia first reported case in Argentina. Neurocase. vol 22. issue 3. 2018-02-01. PMID:27327087. |
c9orf72 g4c2-repeat expansion and frontotemporal dementia first reported case in argentina. |
2018-02-01 |
2023-08-13 |
Not clear |
| Vijay Kumar, Tara Kashav, Asimul Islam, Faizan Ahmad, Md Imtaiyaz Hassa. Structural insight into C9orf72 hexanucleotide repeat expansions: Towards new therapeutic targets in FTD-ALS. Neurochemistry international. vol 100. 2018-01-31. PMID:27539655. |
hexanucleotide repeat expansions, (g4c2) in the c9orf72 gene are considered as the single most common genetic cause of both frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als). |
2018-01-31 |
2023-08-13 |
Not clear |
| Kathryn Volkening, Wendy L Strong, Shauntel Seaton, Wencheng Yang, Michael J Stron. C9orf72 mutations do not influence the tau signature of amyotrophic lateral sclerosis with cognitive impairment (ALSci). Amyotrophic lateral sclerosis & frontotemporal degeneration. vol 18. issue 7-8. 2018-01-29. PMID:28562075. |
c9orf72 mutations are associated with amyotrophic lateral sclerosis (als), frontotemporal dementia (ftd) and als-ftd. |
2018-01-29 |
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 |
| Mei Yang, Chen Liang, Kunchithapadam Swaminathan, Stephanie Herrlinger, Fan Lai, Ramin Shiekhattar, Jian-Fu Che. A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy. Science advances. vol 2. issue 9. 2018-01-25. PMID:27617292. |
the intronic ggggcc hexanucleotide repeat expansion in chromosome 9 open reading frame 72 (c9orf72) is a prevalent genetic abnormality identified in both frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als). |
2018-01-25 |
2023-08-13 |
mouse |
| João Massano, Miguel Leão, Carolina Garret. [Investigation of Genetic Etiology in Neurodegenerative Dementias: Recommendations from the Centro Hospitalar São João Neurogenetics Group]. Acta medica portuguesa. vol 29. issue 10. 2018-01-23. PMID:28103467. |
frontotemporal dementia may be caused by mutations in several genes such as c9orf72, pgrn, mapt, tbk1, vcp, sqstm1, and ubqln2. |
2018-01-23 |
2023-08-13 |
Not clear |
| Tom Shani, Moshe Levy, Adrian Israelso. Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells. Journal of visualized experiments : JoVE. issue 123. 2018-01-15. PMID:28570551. |
recently, hexanucleotide repeat expansions (hres) in the chromosome 9 open reading frame 72 (c9orf72) gene were identified as a genetic cause of als and frontotemporal dementia (ftd). |
2018-01-15 |
2023-08-13 |
Not clear |
| Thomas G Moens, Linda Partridge, Adrian M Isaac. Genetic models of C9orf72: what is toxic? Current opinion in genetics & development. vol 44. 2018-01-11. PMID:28364657. |
a hexanucleotide repeat expansion in the gene c9orf72 is the most common genetic cause of both amyotrophic lateral sclerosis and frontotemporal dementia. |
2018-01-11 |
2023-08-13 |
mouse |
| Manal A Farg, Anna Konopka, Kai Ying Soo, Daisuke Ito, Julie D Atki. The DNA damage response (DDR) is induced by the C9orf72 repeat expansion in amyotrophic lateral sclerosis. Human molecular genetics. vol 26. issue 15. 2018-01-08. PMID:28481984. |
hexanucleotide (ggggcc) repeat expansions in a non-coding region of c9orf72 are the major cause of familial als and frontotemporal dementia (ftd) worldwide. |
2018-01-08 |
2023-08-13 |
Not clear |
| Sorana Ciura, Chantal Sellier, Maria-Letizia Campanari, Nicolas Charlet-Berguerand, Edor Kabash. The most prevalent genetic cause of ALS-FTD, C9orf72 synergizes the toxicity of ATXN2 intermediate polyglutamine repeats through the autophagy pathway. Autophagy. vol 12. issue 8. 2018-01-01. PMID:27245636. |
the most common genetic cause for amyotrophic lateral sclerosis and frontotemporal dementia (als-ftd) is repeat expansion of a hexanucleotide sequence (ggggcc) within the c9orf72 genomic sequence. |
2018-01-01 |
2023-08-13 |
zebrafish |
| Marcelo Miranda C, M Leonor Bustamante C, Luisa Herrera . [Abnormal expansion of C9orf72 gene in familial frontotemporal dementia]. Revista medica de Chile. vol 145. issue 7. 2017-12-14. PMID:29182198. |
[abnormal expansion of c9orf72 gene in familial frontotemporal dementia]. |
2017-12-14 |
2023-08-13 |
Not clear |
| Ruxandra Dafinca, Jakub Scaber, Nida'a Ababneh, Tatjana Lalic, Gregory Weir, Helen Christian, Jane Vowles, Andrew G L Douglas, Alexandra Fletcher-Jones, Cathy Browne, Mahito Nakanishi, Martin R Turner, Richard Wade-Martins, Sally A Cowley, Kevin Talbo. C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Stem cells (Dayton, Ohio). vol 34. issue 8. 2017-12-12. PMID:27097283. |
c9orf72 hexanucleotide expansions are associated with altered endoplasmic reticulum calcium homeostasis and stress granule formation in induced pluripotent stem cell-derived neurons from patients with amyotrophic lateral sclerosis and frontotemporal dementia. |
2017-12-12 |
2023-08-13 |
Not clear |
| Ruxandra Dafinca, Jakub Scaber, Nida'a Ababneh, Tatjana Lalic, Gregory Weir, Helen Christian, Jane Vowles, Andrew G L Douglas, Alexandra Fletcher-Jones, Cathy Browne, Mahito Nakanishi, Martin R Turner, Richard Wade-Martins, Sally A Cowley, Kevin Talbo. C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Stem cells (Dayton, Ohio). vol 34. issue 8. 2017-12-12. PMID:27097283. |
this study is an extensive characterization of ipsc-derived motor neurons as cellular models of als carrying c9orf72 hexanucleotide repeats, which describes a novel pathogenic link between c9orf72 mutations, dysregulation of calcium signaling, and altered proteostasis and provides a potential pharmacological target for the treatment of als and the related neurodegenerative disease frontotemporal dementia. |
2017-12-12 |
2023-08-13 |
Not clear |
| Aaron Burberry, Naoki Suzuki, Jin-Yuan Wang, Rob Moccia, Daniel A Mordes, Morag H Stewart, Satomi Suzuki-Uematsu, Sulagna Ghosh, Ajay Singh, Florian T Merkle, Kathryn Koszka, Quan-Zhen Li, Leonard Zon, Derrick J Rossi, Jennifer J Trowbridge, Luigi D Notarangelo, Kevin Egga. Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease. Science translational medicine. vol 8. issue 347. 2017-12-07. PMID:27412785. |
c9orf72 mutations are found in a significant fraction of patients suffering from amyotrophic lateral sclerosis and frontotemporal dementia, yet the function of the c9orf72 gene product remains poorly understood. |
2017-12-07 |
2023-08-13 |
mouse |
| Thomas Westergard, Brigid K Jensen, Xinmei Wen, Jingli Cai, Elizabeth Kropf, Lorraine Iacovitti, Piera Pasinelli, Davide Trott. Cell-to-Cell Transmission of Dipeptide Repeat Proteins Linked to C9orf72-ALS/FTD. Cell reports. vol 17. issue 3. 2017-11-21. PMID:27732842. |
aberrant hexanucleotide repeat expansions in c9orf72 are the most common genetic change underlying amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2017-11-21 |
2023-08-13 |
Not clear |
| Celia Kun-Rodrigues, Owen A Ross, Tatiana Orme, Claire Shepherd, Laura Parkkinen, Lee Darwent, Dena Hernandez, Olaf Ansorge, Lorraine N Clark, Lawrence S Honig, Karen Marder, Afina Lemstra, Philippe Scheltens, Wiesje van der Flier, Eva Louwersheimer, Henne Holstege, Ekaterina Rogaeva, Peter St George-Hyslop, Elisabet Londos, Henrik Zetterberg, Imelda Barber, Anne Braae, Kristelle Brown, Kevin Morgan, Walter Maetzler, Daniela Berg, Claire Troakes, Safa Al-Sarraj, Tammaryn Lashley, Janice Holton, Yaroslau Compta, Vivianna Van Deerlin, John Q Trojanowski, Geidy E Serrano, Thomas G Beach, Jordi Clarimon, Alberto Lleó, Estrella Morenas-Rodríguez, Suzanne Lesage, Douglas Galasko, Eliezer Masliah, Isabel Santana, Monica Diez, Pau Pastor, Pentti J Tienari, Liisa Myllykangas, Minna Oinas, Tamas Revesz, Andrew Lees, Brad F Boeve, Ronald C Petersen, Tanis J Ferman, Valentina Escott-Price, Neill Graff-Radford, Nigel J Cairns, John C Morris, David J Stone, Stuart Pickering-Brown, David Mann, Dennis W Dickson, Glenda M Halliday, Andrew Singleton, Rita Guerreiro, Jose Bra. Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies. Neurobiology of aging. vol 49. 2017-11-16. PMID:27666590. |
c9orf72 repeat expansions are a common cause of amyotrophic lateral sclerosis and frontotemporal dementia. |
2017-11-16 |
2023-08-13 |
Not clear |
| Jing Liu, Jiaxin Hu, Andrew T Ludlow, Jacqueline T Pham, Jerry W Shay, Jeffrey D Rothstein, David R Core. c9orf72 Disease-Related Foci Are Each Composed of One Mutant Expanded Repeat RNA. Cell chemical biology. vol 24. issue 2. 2017-11-16. PMID:28132891. |
the chromosome 9 open reading frame 72 (c9orf72) gene contains a hexanucleotide (ggggcc) repeat expansion responsible for many cases of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2017-11-16 |
2023-08-13 |
Not clear |
| Priyam Narain, James Gomes, Rohit Bhatia, Inder Singh, Perumal Vivekananda. C9orf72 hexanucleotide repeat expansions and Ataxin 2 intermediate length repeat expansions in Indian patients with amyotrophic lateral sclerosis. Neurobiology of aging. vol 56. 2017-11-16. PMID:28527524. |
repeat expansions in the chromosome 9 open reading frame 72 (c9orf72) gene have been recognized as a major contributor to amyotrophic lateral sclerosis (als) and frontotemporal dementia in the caucasian population. |
2017-11-16 |
2023-08-13 |
Not clear |