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Rahimov, Fedik

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Rahimov

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Fedik

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Rahimov, Fedik

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Author's Publications: search.filters.isAuthorOfPublication.b84c11fd-c823-4242-9cd2-a4213be3f14c

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    Cellular and molecular mechanisms underlying muscular dystrophy
    (The Rockefeller University Press, 2013) Rahimov, Fedik; Kunkel, Louis
    The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have been identified that are involved in various muscle-wasting and neuromuscular disorders. Human genetic studies complemented by animal model systems have substantially contributed to our understanding of the molecular pathomechanisms underlying muscle degeneration. Moreover, these studies have revealed distinct molecular and cellular mechanisms that link genetic mutations to diverse muscle wasting phenotypes.
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    Telomere Position Effect (TPE) Regulates DUX4 in Human Facioscapulohumeral Muscular Dystrophy (FSHD)
    (2013) Stadler, Guido; Rahimov, Fedik; King, Oliver D.; Chen, Jennifer C. J.; Robin, Jerome D.; Wagner, Kathryn R.; Shay, Jerry W.; Emerson, Charles P.; Wright, Woodring E.
    Telomeres may regulate human disease by at least two independent mechanisms. 1) Replicative senescence occurs once short telomeres generate DNA damage signals that produce a barrier to tumor progression. 2) Telomere Position Effect (TPE) can change gene expression at intermediate telomere lengths in cultured human cells. We here report a human disease, facioscapulohumeral muscular dystrophy (FSHD) where telomere length may well contribute to its pathogenesis. FSHD is age-related and genetically only 25-60 kb from the end of chromosome 4q. We used a floxable telomerase to generate isogenic clones with different telomere lengths from patients and their unaffected siblings. DUX4, the primary candidate for FSHD pathogenesis, is upregulated >10-fold in FSHD myoblasts-myotubes with short versus long telomeres, and its expression is inversely proportional to telomere length. FSHD may represent a human disease in which TPE contributes to its age-related phenotype.