Article
Dominant lethal pathologies in male mice engineered to contain an X-linked DUX4 transgene.
Cell reports - 11 Sept 2014
Dandapat Abhijit, Bosnakovski Darko, Hartweck Lynn M, Arpke Robert W, Baltgalvis Kristen A, Vang Derek, Baik June, Darabi Radbod, Perlingeiro Rita C R, Hamra F Kent, Gupta Kalpna, Lowe Dawn A, Kyba Michael
Abstract excerpt
Facioscapulohumeral muscular dystrophy (FSHD) is an enigmatic disease associated with epigenetic alterations in the subtelomeric heterochromatin of the D4Z4 macrosatellite repeat. Each repeat unit encodes DUX4, a gene that is normally silent in most tissues. Besides muscular loss, most patients suffer retinal vascular telangiectasias. To generate an animal model, we introduced a doxycycline-inducible transgene...
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