| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Cláudia Santos Silva, Marta Gormicho, Sara Simão, Ana Catarina Pronto-Laborinho, Inês Alves, Susana Pinto, Miguel Oliveira Santos, Mamede de Carvalh. C9orf72 gene repeat expansion phenotype profile of motor neurone disease in Portugal. Journal of the neurological sciences. vol 465. 2024-09-03. PMID:39226712. |
c9orf72 gene repeat expansion (c9re) is the most frequent gene variant associated with amyotrophic lateral sclerosis (als). |
2024-09-03 |
2024-09-06 |
Not clear |
| Serena Santangelo, Sabrina Invernizzi, Marta Nice Sorce, Valeria Casiraghi, Silvia Peverelli, Alberto Brusati, Claudia Colombrita, Nicola Ticozzi, Vincenzo Silani, Patrizia Bossolasco, Antonia Ratt. NEK1 haploinsufficiency worsens DNA damage, but not defective ciliogenesis, in C9ORF72 patient-derived iPSC-motoneurons. Human molecular genetics. 2024-09-02. PMID:39222049. |
the hexanucleotide g4c2 repeat expansion (hre) in c9orf72 gene is the major cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd), leading to both loss- and gain-of-function pathomechanisms. |
2024-09-02 |
2024-09-04 |
Not clear |
| David J Burrows, Alexander McGown, Olfat Abduljabbar, Lydia M Castelli, Pamela J Shaw, Guillaume M Hautbergue, Tennore M Rames. RAN Translation of C9orf72-Related Dipeptide Repeat Proteins in Zebrafish Recapitulates Hallmarks of Amyotrophic Lateral Sclerosis and Identifies Hypothermia as a Therapeutic Strategy. Annals of neurology. 2024-08-31. PMID:39215697. |
hexanucleotide repeat expansions in the c9orf72 gene are the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2024-08-31 |
2024-09-04 |
zebrafish |
| G Ruotolo, A D'Anzi, A M G Giovenale, C Giacometti, D Ferrari, E Vulcano, C D'Asdia, S Lattante, M Sabatelli, F Codazzi, G Consalez, M Marano, V Di Lazzaro, M Pennuto, A Vescovi, J Rosat. Induced pluripotent stem cell production (CSSi019-A)(14432) from an asymptomatic subject carrying a expansion of C9orf72 gene. Stem cell research. vol 81. 2024-08-27. PMID:39191178. |
one of the genetic mutations most associated with the onset of amyotrophic lateral sclerosis, both in sporadic and familial cases, is the expansion of the c9orf72 gene. |
2024-08-27 |
2024-08-30 |
human |
| Rong Wu, Yingzhi Ye, Daoyuan Dong, Zhe Zhang, Shaopeng Wang, Yini Li, Noelle Wright, Javier Redding-Ochoa, Koping Chang, Shaohai Xu, Xueting Tu, Chengzhang Zhu, Lyle W Ostrow, Xavier Roca, Juan C Troncoso, Bin Wu, Shuying Su. Disruption of nuclear speckle integrity dysregulates RNA splicing in C9ORF72-FTD/ALS. Neuron. 2024-08-24. PMID:39181135. |
expansion of an intronic (ggggcc)n repeat within the c9orf72 gene is the most common genetic cause of both frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als) (c9-ftd/als), characterized with aberrant repeat rna foci and noncanonical translation-produced dipeptide repeat (dpr) protein inclusions. |
2024-08-24 |
2024-08-28 |
mouse |
| Yachen Wu, Wenzhong Zheng, Guofeng Xu, Lijun Zhu, Zhiqiang Li, Jincao Chen, Lianrong Wang, Shi Che. C9orf72 controls hepatic lipid metabolism by regulating SREBP1 transport. Cell death and differentiation. vol 31. issue 8. 2024-08-06. PMID:38816580. |
the repetitive expansion of the hexanucleotide sequence ggggcc within the chromosome 9 open reading frame 72 (c9orf72) gene is a prevalent factor in the development of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2024-08-06 |
2024-08-09 |
Not clear |
| Ashlin R K Roy, Fate Noohi, Nathaniel A Morris, Peter Ljubenkov, Hilary Heuer, Jamie Fong, Matthew Hall, Argentina Lario Lago, Katherine P Rankin, Bruce L Miller, Adam L Boxer, Howard J Rosen, William W Seeley, David C Perry, Jennifer S Yokoyama, Suzee E Lee, Virginia E Stur. Basal parasympathetic deficits in C9orf72 hexanucleotide repeat expansion carriers relate to smaller frontoinsula and thalamus volume and lower empathy. NeuroImage. Clinical. vol 43. 2024-08-04. PMID:39098187. |
individuals with a pathogenic expansion of the hexanucleotide repeat in chromosome 9 open reading frame 72 (c9orf72), the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis, provide a unique opportunity to examine whether parasympathetic activity is disrupted in genetic forms of frontotemporal dementia and to investigate when parasympathetic deficits manifest in the pathophysiological cascade. |
2024-08-04 |
2024-08-07 |
human |
| Leonard H van den Berg, Jeffrey D Rothstein, Pamela J Shaw, Suma Babu, Michael Benatar, Robert C Bucelli, Angela Genge, Jonathan D Glass, Orla Hardiman, Vincenzo Libri, Theodore Mobach, Björn Oskarsson, Gary L Pattee, John Ravits, Christopher E Shaw, Markus Weber, Lorne Zinman, Paymaan Jafar-Nejad, Frank Rigo, Luan Lin, Toby A Ferguson, Anthony L Gotter, Danielle Graham, Michael Monine, Jennifer Inra, Susie Sinks, Satish Eraly, Steve Garafalo, Stephanie Fradett. Safety, tolerability, and pharmacokinetics of antisense oligonucleotide BIIB078 in adults with C9orf72-associated amyotrophic lateral sclerosis: a phase 1, randomised, double blinded, placebo-controlled, multiple ascending dose study. The Lancet. Neurology. 2024-07-26. PMID:39059407. |
hexanucleotide repeat expansion of c9orf72 is a common genetic cause of amyotrophic lateral sclerosis (als). |
2024-07-26 |
2024-07-29 |
human |
| Hsiao-Lin V Wang, Jian-Feng Xiang, Chenyang Yuan, Austin M Veire, Tania F Gendron, Melissa E Murray, Malu G Tansey, Jian Hu, Marla Gearing, Jonathan D Glass, Peng Jin, Victor G Corces, Zachary T McEachi. pTDP-43 levels correlate with cell type specific molecular alterations in the prefrontal cortex of bioRxiv : the preprint server for biology. 2024-06-18. PMID:36711601. |
ptdp-43 levels correlate with cell type specific molecular alterations in the prefrontal cortex of repeat expansions in the c9orf72 gene are the most common genetic cause of amyotrophic lateral sclerosis and familial frontotemporal dementia (als/ftd). |
2024-06-18 |
2024-06-21 |
Not clear |
| Jakub Scaber, Iona Thomas-Wright, Alex J Clark, Yinyan Xu, Björn F Vahsen, Mireia Carcolé, Ruxandra Dafinca, Lucy Farrimond, Adrian M Isaacs, David L Bennett, Kevin Talbo. Cellular and axonal transport phenotypes due to the C9ORF72 HRE in iPSC motor and sensory neurons. Stem cell reports. 2024-06-14. PMID:38876108. |
induced pluripotent stem cell (ipsc)-derived motor neurons (mns) from patients with amyotrophic lateral sclerosis (als) and the c9orf72 hexanucleotide repeat expansion (hre) have multiple cellular phenotypes, but which of these accurately reflect the biology underlying the cell-specific vulnerability of als is uncertain. |
2024-06-14 |
2024-06-17 |
Not clear |
| Yanyan Geng, Changdong Liu, Naining Xu, Monica Ching Suen, Haitao Miao, Yuanyuan Xie, Bingchang Zhang, Xueqin Chen, Yuanjian Song, Zhanxiang Wang, Qixu Cai, Guang Zh. Crystal structure of a tetrameric RNA G-quadruplex formed by hexanucleotide repeat expansions of C9orf72 in ALS/FTD. Nucleic acids research. 2024-06-11. PMID:38860430. |
the abnormal ggggcc hexanucleotide repeat expansions (hres) in c9orf72 cause the fatal neurodegenerative diseases including amyotrophic lateral sclerosis and frontotemporal dementia. |
2024-06-11 |
2024-06-14 |
Not clear |
| Leanne Jiang, Timothy J Tracey, Melinder K Gill, Stephanie L Howe, Dominique T Power, Vanda Bharti, Pamela A McCombe, Robert D Henderson, Frederik J Steyn, Shyuan T Ng. Generation of human induced pluripotent stem cell lines from sporadic, sporadic frontotemporal dementia, familial SOD1, and familial C9orf72 amyotrophic lateral sclerosis (ALS) patients. Stem cell research. vol 78. 2024-05-26. PMID:38796984. |
generation of human induced pluripotent stem cell lines from sporadic, sporadic frontotemporal dementia, familial sod1, and familial c9orf72 amyotrophic lateral sclerosis (als) patients. |
2024-05-26 |
2024-05-31 |
human |
| Barbara E Spencer, Sharon X Xie, Lauren B Elman, Colin C Quinn, Defne Amado, Michael Baer, Edward B Lee, Vivianna Van Deerlin, Laynie Dratch, Lauren Massimo, David J Irwin, Corey T McMilla. C9orf72 repeat expansions modify risk for secondary motor and cognitive-behavioral symptoms in behavioral-variant frontotemporal degeneration and amyotrophic lateral sclerosis. medRxiv : the preprint server for health sciences. 2024-05-15. PMID:38746326. |
c9orf72 repeat expansions modify risk for secondary motor and cognitive-behavioral symptoms in behavioral-variant frontotemporal degeneration and amyotrophic lateral sclerosis. |
2024-05-15 |
2024-05-27 |
Not clear |
| Leszek Błaszczyk, Marcin Ryczek, Bimolendu Das, Martyna Mateja-Pluta, Magdalena Bejger, Joanna Śliwiak, Kazuhiko Nakatani, Agnieszka Kilisze. Antisense RNA C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms a triplex-like structure and binds small synthetic ligand. Nucleic acids research. 2024-05-13. PMID:38738637. |
antisense rna c9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms a triplex-like structure and binds small synthetic ligand. |
2024-05-13 |
2024-05-27 |
Not clear |
| Leszek Błaszczyk, Marcin Ryczek, Bimolendu Das, Martyna Mateja-Pluta, Magdalena Bejger, Joanna Śliwiak, Kazuhiko Nakatani, Agnieszka Kilisze. Antisense RNA C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms a triplex-like structure and binds small synthetic ligand. Nucleic acids research. 2024-05-13. PMID:38738637. |
the abnormal expansion of ggggcc/ggcccc hexanucleotide repeats (hr) in c9orf72 is associated with amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2024-05-13 |
2024-05-27 |
Not clear |
| Jessica Sultana, Audrey M G Ragagnin, Sonam Parakh, Sayanthooran Saravanabavan, Kai Ying Soo, Marta Vidal, Cyril Jones Jagaraj, Kunjie Ding, Sharlynn Wu, Sina Shadfar, Emily K Don, Anand Deva, Garth Nicholson, Dominic B Rowe, Ian Blair, Shu Yang, Julie D Atki. C9orf72-Associated Dipeptide Repeat Expansions Perturb ER-Golgi Vesicular Trafficking, Inducing Golgi Fragmentation and ER Stress, in ALS/FTD. Molecular neurobiology. 2024-05-09. PMID:38722513. |
hexanucleotide repeat expansions (hres) in the chromosome 9 open reading frame 72 (c9orf72) gene are the most frequent genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2024-05-09 |
2024-05-27 |
Not clear |
| Evan Udine, Mariely DeJesus-Hernandez, Shulan Tian, Sofia Pereira das Neves, Richard Crook, NiCole A Finch, Matthew C Baker, Cyril Pottier, Neill R Graff-Radford, Bradley F Boeve, Ronald C Petersen, David S Knopman, Keith A Josephs, Björn Oskarsson, Sandro Da Mesquita, Leonard Petrucelli, Tania F Gendron, Dennis W Dickson, Rosa Rademakers, Marka van Blitterswij. Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion. Acta neuropathologica. vol 147. issue 1. 2024-04-19. PMID:38641715. |
the most prominent genetic cause of both amyotrophic lateral sclerosis (als) and frontotemporal lobar degeneration (ftld) is a repeat expansion in the gene c9orf72. |
2024-04-19 |
2024-04-22 |
human |
| Dalit Barel, Daphna Marom, Penina Ponger, Alina Kurolap, Anat Bar-Shira, Idit Kaplan-Ber, Adi Mory, Beatrice Abramovich, Yuval Yaron, Vivian Drory, Hagit Baris Feldma. Genetic diagnosis and detection rates using C9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosis. Journal of neurology. 2024-04-16. PMID:38625400. |
genetic diagnosis and detection rates using c9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosis. |
2024-04-16 |
2024-04-18 |
Not clear |
| Zhiyuan Huang, Yixin Zhou, Yang Liu, Jiou Wan. Protocol to identify DNA-binding proteins recognizing nucleotide repeat dsDNAs. STAR protocols. vol 5. issue 2. 2024-04-13. PMID:38613779. |
here, we present a protocol to discover proteins specifically interacting with a hexanucleotide repeat dna, the expansion of which is known as the most frequent genetic cause of familial c9orf72 amyotrophic lateral sclerosis and frontotemporal dementia. |
2024-04-13 |
2024-04-16 |
Not clear |
| C Sellier, P Corcia, P Vourc'h, L Dupui. C9ORF72 hexanucleotide repeat expansion: From ALS and FTD to a broader pathogenic role? Revue neurologique. 2024-04-12. PMID:38609750. |
the major gene underlying monogenic forms of amyotrophic lateral sclerosis (als) and fronto-temporal dementia (ftd) is c9orf72. |
2024-04-12 |
2024-04-15 |
Not clear |