Search Results
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Update: Understanding Global Genetic Diversity in FSHD and Building International Trial Readiness
Mar 17, 2024, 11:20 AM
Dr. Bugiardini provides the first update to comprehensively understanding global genetic diversity in FSHD.
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One million Euro for FSHD Research Pioneer
Sep 13, 2014, 8:45 AM
Silvère van der Maarel of Leiden University was awarded €1 million from the Princess Beatrix Fund for his pioneering work in FSHD research.
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Parallels Between SMCHD1 and X Chromosome
Jan 16, 2014, 6:06 PM
Human inactive X chromosome is compacted through a PRC2-independent SMCHD1-HBiX1 pathway.
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In-situ Muscle Test System FLEX Grant
Apr 10, 2013, 4:50 PM
Friends of FSH Research announced a $7,500 FLEX Fund Grant awarded to Silvère van der Maarel, PhD in order to help fund the purchase of an in-situ muscle testing system.
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Intrinsic Epigenetic Regulation of the D4Z4 in a Transgenic Mouse Model
Apr 4, 2013, 4:47 PM
New mouse models which recapitulate several important aspects of FSHD are discussed.
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Progress Update: Mutations in genes that modify DNA packaging result in FSHD type 2
Nov 11, 2012, 1:03 PM
Friends of FSH Research has helped fund another ground breaking project that has shed new light on the mechanism of muscle damage in Facioscapulohumeral Muscular Dystrophy, and suggests new targets for treatment.
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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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Stephen Tapscott comments on DUX4 collaboration
Sep 20, 2010, 3:52 PM
An international research collaboration that includes research groups funded by the Friends of FSH Research has made a critical advance in determining the cause of FSHD.
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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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September 2010 FSH Research Meeting
Sep 16, 2010, 3:08 PM
This brought together the various labs which have been collaborating in an effort to push ahead on FSH research through an open exchange of unpublished research.
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$6.3 Million Dollar Grant for FSH Research — The Pathogenesis of FSHD
Jun 26, 2010, 2:46 PM
Five-year NIH grant to a consortium of FSHD research labs.
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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.
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Five-Year NIH Grant for FSH Research
Apr 15, 2008, 11:46 AM
$6.3 Million Dollar Grant for FSH Research — The Pathogenesis of FSHD.