The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Promoter-Bound Trinucleotide Repeat mRNA Drives Epigenetic Silencing in Fragile X Syndrome
Open accessAbstract
Repeat Silencing: Fragile X syndrome, a genetic cause of many cases of autism and mental retardation, involves expansion of a trinucleotide repeat in the fragile X mental retardation 1 (FMR1) gene. Working with human embryonic stem cells, Colak et al. (p. 1002 ) found that the expanded repeat region was transcribed into the untranslated region of FMR1 messenger RNA, which then bound to the DNA repeat region in the FMR1 gene, inactivating the gene. The findings explain how the trinucleotide repeat expansion causes RNA-directed gene silencing during development in fragile X syndrome.
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Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling
Chambers, S. M., Fasano, C. A., Papapetrou, E. P., Tomishima, M., Sadelain, M., & Studer, L. (2009) · Nature Biotechnology · doi:10.1038/nbt.1529 · Cited by 3,620
Verkerk, A. J. M. H., Pieretti, M., Sutcliffe, J. S., Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M. F., Zhang, F., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90397-h · Cited by 3,481
Wu, J. Q., Habegger, L., Noisa, P., Szekely, A., Qiu, C., Hutchison, S., Raha, D., Egholm, M., Lin, H., Weissman, S., et al. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0914114107 · Cited by 189
Cited by
Hagerman, R. J., Berry-Kravis, E., Hazlett, H. C., Bailey, D. B., Moine, H., Kooy, R. F., Tassone, F., Gantois, I., Sonenberg, N., Mandel, J. L., et al. (2017) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2017.65 · Cited by 838
R-Loops as Cellular Regulators and Genomic Threats
Crossley, M. P., Bocek, M., & Cimprich, K. A. (2019) · Molecular Cell · doi:10.1016/j.molcel.2019.01.024 · Cited by 746
Skourti-Stathaki, K., & Proudfoot, N. J. (2014) · Genes & Development · doi:10.1101/gad.242990.114 · Cited by 532
Tandem repeats mediating genetic plasticity in health and disease
Hannan, A. J. (2018) · Nature Reviews Genetics · doi:10.1038/nrg.2017.115 · Cited by 446
30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?
Depienne, C., & Mandel, J.-L. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.03.011 · Cited by 429
Metadata
- Authors
- Colak, D., Zaninovic, N., Cohen, M. S., Rosenwaks, Z., Yang, W.-Y., Gerhardt, J., Disney, M. D., & Jaffrey, S. R.
- Venue
- Science
- Published
- 2014-02-28
- Volume
- 343
- Issue
- 6174
- Pages
- 1002-1005
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2012974517
- Cited by
- 294
- References
- 3
- FWCI
- 24.37
- Type
- journal article
- Language
- en
- Open access
- green
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- Colak, D., Zaninovic, N., Cohen, M. S., Rosenwaks, Z., Yang, W.-Y., Gerhardt, J., Disney, M. D., & Jaffrey, S. R. (2014). Promoter-Bound Trinucleotide Repeat mRNA Drives Epigenetic Silencing in Fragile X Syndrome. Science. https://doi.org/10.1126/science.1245831
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