RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.

@article{Snider2009RNATM,
  title={RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.},
  author={Lauren C Snider and Amy Asawachaicharn and Ashlee E Tyler and Linda N. Geng and Lisa M. Petek and Lisa Maves and Daniel G. Miller and Richard J. L. F. Lemmers and Sara Winokur and Rabi Tawil and Silv{\'e}re M. van der Maarel and Galina N. Filippova and Stephen J. Tapscott},
  journal={Human molecular genetics},
  year={2009},
  volume={18 13},
  pages={2414-30}
}
Deletion of a subset of the D4Z4 macrosatellite repeats in the subtelomeric region of chromosome 4q causes facioscapulohumeral muscular dystrophy (FSHD) when occurring on a specific haplotype of 4qter (4qA161). Several genes have been examined as candidates for causing FSHD, including the DUX4 homeobox gene in the D4Z4 repeat, but none have been definitively shown to cause the disease, nor has the full extent of transcripts from the D4Z4 region been carefully characterized. Using strand… CONTINUE READING
Highly Influential
This paper has highly influenced 12 other papers. REVIEW HIGHLY INFLUENTIAL CITATIONS

Citations

Publications citing this paper.
Showing 1-10 of 94 extracted citations

Cis-ruption mechanisms: disruption of cis-regulatory control as a cause of human genetic disease.

Briefings in functional genomics & proteomics • 2009
View 8 Excerpts
Highly Influenced

References

Publications referenced by this paper.
Showing 1-10 of 33 references

DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1.

Proceedings of the National Academy of Sciences of the United States of America • 2007

Similar Papers

Loading similar papers…