480 research outputs found

    cis-regulatory circuits regulating NEK6 kinase overexpression in transformed B cells Are super-enhancer independent

    Get PDF
    Alterations in distal regulatory elements that control gene expression underlie many diseases, including cancer. Epigenomic analyses of normal and diseased cells have produced correlative predictions for connections between dysregulated enhancers and target genes involved in pathogenesis. However, with few exceptions, these predicted cis-regulatory circuits remain untested. Here, we dissect cis-regulatory circuits that lead to overexpression of NEK6, a mitosis-associated kinase, in human B cell lymphoma. We find that only a minor subset of predicted enhancers is required for NEK6 expression. Indeed, an annotated super-enhancer is dispensable for NEK6 overexpression and for maintaining the architecture of a B cell-specific regulatory hub. A CTCF cluster serves as a chromatin and architectural boundary to block communication of the NEK6 regulatory hub with neighboring genes. Our findings emphasize that validation of predicted cis-regulatory circuits and super-enhancers is needed to prioritize transcriptional control elements as therapeutic targets

    Can disorder induce a finite thermal conductivity in 1D lattices?

    Full text link
    We study heat conduction in one dimensional mass disordered harmonic and anharmonic lattices. It is found that the thermal conductivity Îș\kappa of the disordered anharmonic lattice is finite at low temperature, whereas it diverges as Îș∌N0.43\kappa \sim N^{0.43} at high temperature. Moreover, we demonstrate that a unique nonequilibrium stationary state in the disordered harmonic lattice does not exist at all.Comment: 4 pages with 4 eps figure

    Structural effects in UO2 thin films irradiated with U ions

    Get PDF
    This work presents the results of a detailed structural characterisation of irradiated and unirradiated single crystal thin films of UO2. Thin films of UO2 were produced by reactive magnetron sputtering onto (0 0 1), (1 1 0) and (1 1 1) single crystal yttria-stabilised zirconia (YSZ) substrates. Half of the samples were irradiated with 110 MeV 238U31+ ions to fluences of 5 × 1010, 5 × 1011 and 5 × 1012 ions/cm2 to induce radiation damage, with the remainder kept for reference measurements. It was observed that as-produced UO2 films adopted the crystallographic orientation of their YSZ substrates. The irradiation fluences used in this study however, were not sufficient to cause any permanent change in the crystalline nature of UO2. It has been demonstrated that the effect of epitaxial re-crystallisation of the induced radiation damage can be quantified in terms of kernel average misorientation (KAM) and different crystallographic orientations of UO2 respond differently to ion irradiation

    Morphological and mechanical properties of the human patella tendon in adult males with Achondroplasia - Supplementary Material

    Get PDF
    This supplementary material contains all inferential statistics for the published article " Morphological and mechanical properties of the human patella tendon in adult males with Achondroplasia"

    The effects of 12 weeks’ resistance training on psychological parameters and quality of life in adults with Facioscapulohumeral, Becker, and Limb–girdle dystrophies

    Get PDF
    Purpose Investigate the impact of 12-weeks’ moderate-intensity resistance training on psychological parameters in ambulatory adults with Facioscapulohumeral, Becker, and Limb–girdle muscular dystrophy. Methods Seventeen adults with Facioscapulohumeral (n = 6), Limb–girdle (n = 6; types 2A, 2B, 2L, and 2I), or Becker (n = 5) muscular dystrophy took part. Participants were tested at baseline (PRE), after a 12-week control period (PRE2), and after a 12-week supervised resistance training programme (POST). Training included multi-joint and single-joint resistance exercises. Outcomes from self-report questionnaires were health-related quality of life, depressive symptoms, trait anxiety, self-esteem, and physical self-worth. Results No difference in outcome measures, except depressive symptoms, was found in the control period (PRE to PRE2). Symptoms of depression were reduced by 9% from PRE to PRE2 (p < 0.05) and by a further 19% from PRE2 to POST (p < 0.05). Other changes from PRE2 to POST were that trait anxiety reduced by 10%, self-esteem increased by 10%, physical self-worth increased by 20%, and quality of life improved in 8 domains (p < 0.05). Conclusion These findings demonstrate the positive impact of moderate-intensity resistance training on psychological health and quality of life in adults with Facioscapulohumeral, Becker, and Limb–girdle muscular dystrophies. Implications for rehabilitation Resistance training can have a positive impact on psychological health and quality of life in adults with Facioscapulohumeral, Becker, and Limb–girdle muscular dystrophy. Healthcare professionals should consider including moderate-intensity resistance training within the management and treatment programmes of adults with Facioscapulohumeral, Becker, and Limb–girdle muscular dystrophy

    Pediatric patient with systemic lupus erythematosus & congenital acquired immunodeficiency syndrome: An unusual case and a review of the literature

    Get PDF
    The coexistence of systemic lupus erythematosus (SLE) in patients with congenital human immunodeficiency virus (HIV) infection is rare. This is a case report of a child diagnosed with SLE at nine years of age. She initially did well on non-steroidal anti-inflammatory agents, hydroxychloroquine, and steroids. She then discontinued her anti-lupus medications and was lost to follow-up. At 13 years of age, her lupus symptoms had resolved and she presented with intermittent fevers, cachexia, myalgias, arthralgias, and respiratory symptoms. Through subsequent investigations, the patient was ultimately diagnosed with congenitally acquired immunodeficiency syndrome (AIDS)
    • 

    corecore