Search Results
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Why is FSHD so variable?
Oct 30, 2014, 10:41 AM
Spoiler alert: it's because of epigenetics.
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FSHD Muscle Nuclei Poised for DUX4 Expression
Oct 29, 2010, 4:14 PM
An international research consortium shows that FSHD muscle nuclei are poised for expression of the toxic DUX4 protein.
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Identification of DNA Region Necessary for FSHD
Sep 20, 2010, 3:45 PM
An international collaboration identifies a region of DNA necessary for FSHD and focuses attention on DUX4 as the cause of muscle deterioration.
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Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD
Jun 2, 2009, 1:58 PM
Facioscapulohumeral muscular dystrophy (FSHD), caused by partial deletion of the D4Z4 macrosatellite repeat on chromosome 4q, has a complex genetic and epigenetic etiology. To develop FSHD, D4Z4 contraction needs to occur on a specific genetic background. Only contractions associated with the 4qA161 haplotype cause FSHD.
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RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of FSHD
Jun 1, 2009, 1:27 PM
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, or has the full extent of transcripts from the D4Z4 region been carefully characterized.