| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Xiujuan Fu, Zhe Zhang, Lindsey R Hayes, Noelle Wright, Julie Asbury, Shelley Li, Yingzhi Ye, Shuying Su. DDX3X overexpression decreases dipeptide repeat proteins in a mouse model of C9ORF72-ALS/FTD. Experimental neurology. 2024-03-31. PMID:38556190. |
hexanucleotide repeat expansion in c9orf72 (c9) is the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2024-03-31 |
2024-04-03 |
mouse |
| Junhao Li, Manoj K Jaiswal, Jo-Fan Chien, Alexey Kozlenkov, Jinyoung Jung, Ping Zhou, Mahammad Gardashli, Luc J Pregent, Erica Engelberg-Cook, Dennis W Dickson, Veronique V Belzil, Eran A Mukamel, Stella Drachev. Divergent single cell transcriptome and epigenome alterations in ALS and FTD patients with C9orf72 mutation. Nature communications. vol 14. issue 1. 2023-09-15. PMID:37714849. |
a repeat expansion in the c9orf72 (c9) gene is the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2023-09-15 |
2023-10-07 |
Not clear |
| Yi-Ju Tseng, Peter K Tod. Ribosomal quality control in repeat-associated non-AUG translation of GC rich repeats. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. vol 36 Suppl 1. 2022-05-13. PMID:35552311. |
nucleotide repeat expansions cause multiple neurodegenerative disorders including c9orf72-associated amyotrophic lateral sclerosis and frontotemporal dementia (c9 als/ftd) and fragile x-associated tremor/ataxia syndrome (fxtas). |
2022-05-13 |
2023-08-13 |
Not clear |
| M Rebecca Glineburg, Yuan Zhang, Amy Krans, Elizabeth M Tank, Sami J Barmada, Peter K Tod. Enhanced detection of expanded repeat mRNA foci with hybridization chain reaction. Acta neuropathologica communications. vol 9. issue 1. 2021-11-02. PMID:33892814. |
here we developed a repeat-specific form of hybridization chain reaction (r-hcr) as an alternative method for detection of repeat rna foci in two neurodegenerative disorders: c9orf72 associated als and frontotemporal dementia (c9 als/ftd) and fragile x-associated tremor/ataxia syndrome. |
2021-11-02 |
2023-08-13 |
Not clear |
| Stella A Glasmacher, Charis Wong, Iona E Pearson, Suvankar Pa. Survival and Prognostic Factors in C9orf72 Repeat Expansion Carriers: A Systematic Review and Meta-analysis. JAMA neurology. vol 77. issue 3. 2021-02-12. PMID:31738367. |
the c9orf72 repeat expansion (c9 or c9orf72re) confers a survival disadvantage in amyotrophic lateral sclerosis (als); its effect on prognosis in frontotemporal dementia (ftd) remains uncertain. |
2021-02-12 |
2023-08-13 |
Not clear |
| Shira Yanovsky-Dagan, Hagar Mor-Shaked, Rachel Eige. Modeling diseases of noncoding unstable repeat expansions using mutant pluripotent stem cells. World journal of stem cells. vol 7. issue 5. 2015-07-01. PMID:26131313. |
among this class of disorders are fragile x syndrome and fragile x-associated tremor/ataxia syndrome, myotonic dystrophy type 1 and myotonic dystrophy type 2, friedreich ataxia and c9 related amyotrophic lateral sclerosis and/or frontotemporal dementia, facioscapulohumeral muscular dystrophy and potentially more. |
2015-07-01 |
2023-08-13 |
human |
| Sheng Chen, Zhiying W. [Advances in repeat-primed PCR assay for the genetic diagnosis of dynamic mutation diseases with large pathogenic expansions]. Yi chuan = Hereditas. vol 36. issue 11. 2015-03-04. PMID:25567872. |
here, we reviewed the advances in repeat-primed pcr assay for the genetic diagnoses of myotonic dystrophy, friedreich's ataxia, sca10, and amyotrophic lateral sclerosis or frontotemporal dementia caused by c9 or f72 mutations. |
2015-03-04 |
2023-08-13 |
Not clear |