The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographicaly diverse populations

Recently, a 6-kb duplication of exon 13, which creates a frameshift in the coding sequence of the BRCA1 gene, has been described in three unrelated U.S. families of European ancestry and in one Portuguese family. Here, our goal was to estimate the frequency and geographic diversity of carriers of this duplication. To do this, a collaborative screening study was set up that involved 39 institutions from 19 countries and included 3,580 unrelated individuals with a family history of the disease and 934 early-onset breast and/or ovarian cancer cases. A total of 11 additional families carrying this mutation were identified in Australia (1), Belgium (1), Canada (1), Great Britain (6), and the United States (2). Haplotyping showed that they are likely to derive from a common ancestor, possibly of northern British origin. Our results demonstrate that it is strongly advisable, for laboratories carrying out screening either in English-speaking countries or in countries with historical links with Britain, to include within their BRCA1 screening protocols the polymerase chain reaction-based assay described in this report

Étude analytique d'appréciations subjectives portées sur des traits de la personnalité humaine.

R. Bonnardel. Étude analytique d'appréciations subjectives portées sur des traits de la personnalité humaine. Année Psychologique, XLI et XLII, 1940-41

Thickness and vertical mixing in the bottom nepheloid layer in the Atlantic Ocean

International audienc

Establishment and maintenance of the macrophage niche

Self-maintaining resident macrophages populate all mammalian organs. In addition to their role as immune sentinels, macrophages perform day-to-day functions essential to tissue homeostasis. The homeostatic functions of macrophages are regulated by so-called tissular "niches'' that control the size of the macrophage population and imprint their tissue-specific identity. Here, we review the mechanisms underlying self-maintenance of distinct macrophage populations and outline the organizing principles of the macrophage niche. We examine recent studies that uncovered mutually beneficial cell-cell circuits established between macrophages and their niche and propose a modular view of tissues that integrates the resident macrophage as an essential component of each individual module. Manipulating macrophage niche cells to control the function of resident macrophages in vivo might have therapeutic value in various disease settings

Using Torrance Creative Thinking Criteria to Describe Complex Decision Making During an Outbreak Management by Public Health Experts

International audienc

Redesigning the Peer Review Process: A Developmental Theory-in-Action

Abstract. We are looking at how new forms of document interface can be used to support new forms of scholarly discourse, and ultimately, new models of scholarly publishing. Towards this end, we have been using specially designed computer-mediated conferencing technology to realize an innovative peer revie