13 research outputs found

    Artificial synthesis of covalent triazine frameworks for local structure and property determination

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    An ‘artificial synthesis’ method for covalent triazine framework (CTF) materials, enabling localised structural features to be incorporated that result directly from the acid-catalysed synthetic protocol that would otherwise not be captured

    Little monsters: gothic children and contemporary theatrical performance

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    The Gothic, in literature, in film, and on the stage, seems to possess a particular fascination with children. This chapter, in the first instance, introduces an exploration of the representations of children in the post-war British theatre, as both objects and agents of horror, from Kane’s Blasted to McPherson’s The Weir. Secondly, the chapter will examine the emerging appeal of plays such as Jack Thorne’s adaptation of John Lindqviste’s Let the Right One In, and Phillip Pullman’s Grimm Tales which use the tropes, aesthetics and properties of the Gothic as fertile ground for making theatre for young audiences

    Rare missense functional variants at COL4A1 and COL4A2 in sporadic intracerebral hemorrhage

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    Objective To test the genetic contribution of rare missense variants in COL4A1 and COL4A2 in which common variants are genetically associated with sporadic intracerebral hemorrhage (ICH), we performed rare variant analysis in multiple sequencing data for the risk for sporadic ICH. Methods We performed sequencing across 559Kbp at 13q34 including COL4A1 and COL4A2 among 2,133 individuals (1,055 ICH cases; 1,078 controls) in US-based and 1,492 individuals (192 ICH cases; 1,300 controls) from Scotland-based cohorts, followed by sequence annotation, functional impact prediction, genetic association testing, and in silico thermodynamic modeling. Results We identified 107 rare nonsynonymous variants in sporadic ICH, of which 2 two missense variants, rs138269346 (COL4A1I110T) and rs201716258 (COL4A2H203L), were predicted to be highly functional and occurred in multiple ICH cases but not in controls from the US-based cohort. The minor allele of rs201716258 was also present in Scottish ICH patients, and rs138269346 was observed in two ICH-free controls with a history of hypertension and myocardial infarction. Rs138269346 was nominally associated with non-lobar ICH risk (P=0.05), but not with lobar ICH (P=0.08), while associations between rs201716258 and ICH subtypes were non-significant (P>0.12). Both variants were considered pathogenic based on minor allele frequency (Chung, Jaeyoon; Hamilton, Graham; Kim, Minsup et al. (2021). Rare missense functional variants at COL4A1 and COL4A2 in sporadic intracerebral hemorrhage [Dataset]. Dryad. https://doi.org/10.5061/dryad.z34tmpgc
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