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Flavones provide resistance to DUX4-induced toxicity via an mTor-independent mechanism
Facioscapulohumeral muscular dystrophy (FSHD) is among the most common of the muscular dystrophies, affecting nearly 1 in 8000 individuals, and is a...
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Homeotic DUX4 Genes Shape Dynamic Inter-Chromosomal Contacts with Nucleoli in Human Cells
AbstractNucleoli form interchromosomal contacts with genes controlling differentiation and carcinogenesis. DUX4 genes specify transcription factor...
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Hypoxia enhances human myoblast differentiation: involvement of HIF1α and impact of DUX4, the FSHD causal gene
BackgroundHypoxia is known to modify skeletal muscle biological functions and muscle regeneration. However, the mechanisms underlying the effects...
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Antiapoptotic Protein FAIM2 is targeted by miR-3202, and DUX4 via TRIM21, leading to cell death and defective myogenesis
Inappropriate expression of DUX4, a transcription factor that induces cell death at high levels of expression and impairs myoblast differentiation at...
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Dnmt3b regulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice
BackgroundFacioscapulohumeral muscular dystrophy (FSHD) is a skeletal muscle disorder that is caused by derepression of the transcription factor DUX4...
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DUX4, a Zygotic Genome Activator, Is Involved in Oncogenesis and Genetic Diseases
AbstractAfter fertilization, the genome is transcriptionally quiescent to allow zygote reprogramming that relies on the RNA and proteins accumulated...
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The double homeodomain protein DUX4c is associated with regenerating muscle fibers and RNA-binding proteins
BackgroundWe have previously demonstrated that double homeobox 4 centromeric ( DUX4C ) encoded for a functional DUX4c protein upregulated in...
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Transgenic mice expressing tunable levels of DUX4 develop characteristic facioscapulohumeral muscular dystrophy-like pathophysiology ranging in severity
BackgroundAll types of facioscapulohumeral muscular dystrophy (FSHD) are caused by the aberrant activation of the somatically silent DUX4 gene, the...
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Meta-analysis towards FSHD reveals misregulation of neuromuscular junction, nuclear envelope, and spliceosome
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common autosomal dominant muscle disorders, yet no cure or amelioration exists. The...
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SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action
Facioscapulohumeral muscular dystrophy (FSHD) is caused by the epigenetic derepression of the 4q-linked D4Z4 macrosatellite repeat resulting in...
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Establishment and characterization of NCC-CDS2-C1: a novel patient-derived cell line of CIC-DUX4 sarcoma
CIC - DUX4 sarcoma (CDS), an aggressive soft tissue sarcoma, is characterized by a CIC and DUX4 rearrangement. It has a dismal clinical course and high...
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Meeting report: the 2021 FSHD International Research Congress
Facioscapulohumeral muscular dystrophy (FSHD) is the second most common genetic myopathy, characterized by slowly progressing and highly...
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Subtype-selective induction of apoptosis in translocation-related sarcoma cells induced by PUMA and BIM upon treatment with pan-PI3K inhibitors
Translocation-related sarcomas (TRSs) harbor an oncogenic fusion gene generated by chromosome translocation and account for approximately one-third...
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Homeotic DUX4 Genes that Control Human Embryonic Development at the Two-Cell Stage Are Surrounded by Regions Contacting with rDNA Gene Clusters
AbstractMany human genes that control human embryonic development and differentiation of human cells form chromosomal contact with rRNA gene...
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Molecular mechanisms and therapeutic strategies for neuromuscular diseases
Neuromuscular diseases encompass a heterogeneous array of disorders characterized by varying onset ages, clinical presentations, severity, and...
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A non-viral genome editing platform for site-specific insertion of large transgenes
BackgroundThe precise, functional and safe insertion of large DNA payloads into host genomes offers versatility in downstream genetic...
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Sporadic DUX4 expression in FSHD myocytes is associated with incomplete repression by the PRC2 complex and gain of H3K9 acetylation on the contracted D4Z4 allele
BackgroundFacioscapulohumeral muscular dystrophy 1 (FSHD1) has an autosomal dominant pattern of inheritance and primarily affects skeletal muscle....
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Functional Genomics of Novel Rhabdomyosarcoma Fusion-Oncogenes Using Zebrafish
Clinical sequencing efforts continue to identify novel putative oncogenes with limited strategies to perform functional validation in vivo and study...
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Cas13b-mediated RNA targeted therapy alleviates genetic dilated cardiomyopathy in mice
BackgroundRecent advances in gene editing technology have opened up new avenues for in vivo gene therapy, which holds great promise as a potential...
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Human zygotic genome activation is initiated from paternal genome
Although parental genomes undergo extensive epigenetic reprogramming to be equalized after fertilization, whether they play different roles in human...
