Repeat instability as the basis for human diseases and as a potential target for therapy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cell Biology,Molecular Biology
Link
http://www.nature.com/articles/nrm2854.pdf
Reference50 articles.
1. Pearson, C. E., Nichol Edamura, K. & Cleary, J. D. Repeat instability: mechanisms of dynamic mutations. Nature Rev. Genet. 6, 729–742 (2005).
2. Swami, M. et al. Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset. Hum. Mol. Genet. 18, 3039–3047 (2009).
3. Cleary, J. D. & Pearson, C. E. The contribution of cis-elements to disease-associated repeat instability: Clinical and experimental evidence. Cytogenet. Genome Res. 100, 25–55 (2003).
4. Gonitel, R. et al. DNA instability in postmitotic neurons. Proc. Natl Acad. Sci. USA 105, 3467–3472 (2008).
5. Entezam, A. et al. Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model. Gene 395, 125–134 (2007).
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