5 research outputs found

    L’Architecture flamboyante en France

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    Au moment oĂč les historiens de l’art rĂ©habilitent l’architecture de la fin du Moyen Âge, nous avons souhaitĂ© rĂ©Ă©diter l’ouvrage pionnier consacrĂ© par Roland Sanfaçon en 1971 Ă  L’Architecture flamboyante en France. Notre motivation se fonde sur l’appel encore incontournable Ă  son contenu, sur l’absence d’une synthĂšse française Ă©quivalente et, enfin, sur la nĂ©cessitĂ© de faire de cet ouvrage un objet de rĂ©flexion historiographique et Ă©pistĂ©mologique. Plusieurs auteurs se sont ainsi rĂ©unis Autour de cette rĂ©Ă©dition pour Ă©valuer leur dette envers la rĂ©flexion prodromique engagĂ©e par l’historien quĂ©bĂ©cois sur l’architecture des xve et xvie siĂšcles. Tout en interrogeant la problĂ©matique Ă©laborĂ©e par l’auteur en son temps, forts d’un nouvel « outillage mental », ils Ă©crivent les premiĂšres lignes d’une rĂ©flexion critique sur une architecture encore mĂ©connue

    Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy

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    Clinical presentation of congenital heart disease is heterogeneous, making identification of the disease-causing genes and their genetic pathways and mechanisms of action challenging. By using in vivo electrocardiography, transthoracic echocardiography and microcomputed tomography imaging to screen 3,894 single-gene-null mouse lines for structural and functional cardiac abnormalities, here we identify 705 lines with cardiac arrhythmia, myocardial hypertrophy and/or ventricular dilation. Among these 705 genes, 486 have not been previously associated with cardiac dysfunction in humans, and some of them represent variants of unknown relevance (VUR). Mice with mutations in Casz1, Dnajc18, Pde4dip, Rnf38 or Tmem161b genes show developmental cardiac structural abnormalities, with their human orthologs being categorized as VUR. Using UK Biobank data, we validate the importance of the DNAJC18 gene for cardiac homeostasis by showing that its loss of function is associated with altered left ventricular systolic function. Our results identify hundreds of previously unappreciated genes with potential function in congenital heart disease and suggest causal function of five VUR in congenital heart disease

    The Galaxy platform for accessible, reproducible, and collaborative data analyses: 2024 update

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    International audienceAbstract Galaxy (https://galaxyproject.org) is deployed globally, predominantly through free-to-use services, supporting user-driven research that broadens in scope each year. Users are attracted to public Galaxy services by platform stability, tool and reference dataset diversity, training, support and integration, which enables complex, reproducible, shareable data analysis. Applying the principles of user experience design (UXD), has driven improvements in accessibility, tool discoverability through Galaxy Labs/subdomains, and a redesigned Galaxy ToolShed. Galaxy tool capabilities are progressing in two strategic directions: integrating general purpose graphical processing units (GPGPU) access for cutting-edge methods, and licensed tool support. Engagement with global research consortia is being increased by developing more workflows in Galaxy and by resourcing the public Galaxy services to run them. The Galaxy Training Network (GTN) portfolio has grown in both size, and accessibility, through learning paths and direct integration with Galaxy tools that feature in training courses. Code development continues in line with the Galaxy Project roadmap, with improvements to job scheduling and the user interface. Environmental impact assessment is also helping engage users and developers, reminding them of their role in sustainability, by displaying estimated CO2 emissions generated by each Galaxy job
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