Regular ArticleGenomic Analysis of Human Chromosome 10q and 4q Telomeres Suggests a Common Origin
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The evolution of DUX4 gene regulation and its implication for facioscapulohumeral muscular dystrophy
2022, Biochimica et Biophysica Acta - Molecular Basis of DiseaseCitation Excerpt :Yet, the difficulty in detecting DUX4 expression in FSHD muscle caused much skepticism in the gain-of-function model of DUX4 causing FSHD. The presence of a nearly identical D4Z4 repeat array containing DUX4 on chromosome 10q [12], contractions in which do not cause FSHD, also contributed to this skepticism. Several genes in the vicinity of D4Z4 were considered as potential candidates, but none could be definitively linked to FSHD through biochemical or genetic studies [30].
Adenine base editing of the DUX4 polyadenylation signal for targeted genetic therapy in facioscapulohumeral muscular dystrophy
2021, Molecular Therapy Nucleic AcidsUpdate on Families of Round Cell Sarcomas Other than Classical Ewing Sarcomas
2017, Surgical Pathology ClinicsFlavones provide resistance to DUX4-induced toxicity via an mTor-independent mechanism
2023, Cell Death and Disease
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Present address: University Medical Center Nijmegen, Department of Dermatology, 6500 HB Nijmegen, The Netherlands
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Present address: Children's Hospital Oakland, Oakland, California 94609, USA
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