19 research outputs found

    Between norms, facts and stereotypes : the place of culture and ethnicity in Belgian and French family justice

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    International audienceBased on extensive empirical fieldworks conducted in Belgian and French family justice courtrooms in order to explain how culture and ethnicity are processed and understood in the daily reasoning and assumptions of legal professionals, this chapter analyzes different forms in which culture and ethnicity are framed in family law cases. Understanding how and along which dimensions these elements do vary in judicial reasoning constitutes the preliminary but necessary step before assessing the need of cultural expertise as such. In this attempt, we shed light on a scope of variations between complex and non-deterministic models of culture-consistent with contemporary anthropology literature-and more simplistic ones, in which culture and identity are conceived as fixed realities. Throughout this path between norms, facts and stereotypes, we illustrate not only the multiplicity and complexity of forms which cultural elements can take in the exercise of family justice, but also the risks that some significances may carry with them and the urgent need to improve more fluid and dispassionate conceptions of cultural diversity before developing "cultural expertise" as such, an expertise that could otherwise reinforce stereotypical and fixed views of "cultures"

    Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion

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    Mutations in genes encoding components of the intraflagellar transport (IFT) complexes have previously been associated with a spectrum of diseases collectively termed ciliopathies. Ciliopathies relate to defects in the formation or function of the cilium, a sensory or motile organelle present on the surface of most cell types. IFT52 is a key component of the IFT-B complex and ensures the interaction of the two subcomplexes, IFT-B1 and IFT-B2. Here, we report novel IFT52 biallelic mutations in cases with a short-rib thoracic dysplasia (SRTD) or a congenital anomaly of kidney and urinary tract (CAKUT). Combining in vitro and in vivo studies in zebrafish, we showed that SRTD-associated missense mutation impairs IFT-B complex assembly and IFT-B2 ciliary localization, resulting in decreased cilia length. In comparison, CAKUT-associated missense mutation has a mild pathogenicity, thus explaining the lack of skeletal defects in CAKUT case. In parallel, we demonstrated that the previously reported homozygous nonsense IFT52 mutation associated with Sensenbrenner syndrome [Girisha et al. (2016) A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy. Clin. Genet., 90, 536-539] leads to exon skipping and results in a partially functional protein. Finally, our work uncovered a novel role for IFT52 in microtubule network regulation. We showed that IFT52 interacts and partially co-localized with centrin at the distal end of centrioles where it is involved in its recruitment and/or maintenance. Alteration of this function likely contributes to centriole splitting observed in Ift52(-/-) cells. Altogether, our findings allow a better comprehensive genotype-phenotype correlation among IFT52-related cases and revealed a novel, extra-ciliary role for IFT52, i.e. disruption may contribute to pathophysiological mechanisms
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