11 research outputs found

    Tendances actuelles dans la mesure de l'exposition professionnelle aux fibres

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    Long-term performance of the SwissQuantum quantum key distribution network in a field environment

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    In this paper, we report on the performance of the SwissQuantum quantum key distribution (QKD) network. The network was installed in the Geneva metropolitan area and ran for more than one-and-a-half years, from the end of March 2009 to the beginning of January 2011. The main goal of this experiment was to test the reliability of the quantum layer over a long period of time in a production environment. A key management layer has been developed to manage the key between the three nodes of the network. This QKD-secure network was utilized by end-users through an application layer

    Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility

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    Hereditary retinal degenerations encompass a group of genetic diseases characterized by extreme clinical variability. Following next-generation sequencing and autozygome-based screening of patients presenting with a peculiar, recessive form of cone-dominated retinopathy, we identified five homozygous variants [p.(Asp594fs), p.(Gln117*), p.(Met712fs), p.(Ile756Phe), and p.(Glu543Lys)] in the polyglutamylase-encoding gene TTLL5, in eight patients from six families. The two male patients carrying truncating TTLL5 variants also displayed a substantial reduction in sperm motility and infertility, whereas those carrying missense changes were fertile. Defects in this polyglutamylase in humans have recently been associated with cone photoreceptor dystrophy, while mouse models carrying truncating mutations in the same gene also display reduced fertility in male animals. We examined the expression levels of TTLL5 in various human tissues and determined that this gene has multiple viable isoforms, being highly expressed in testis and retina. In addition, antibodies against TTLL5 stained the basal body of photoreceptor cells in rat and the centrosome of the spermatozoon flagellum in humans, suggesting a common mechanism of action in these two cell types. Taken together, our data indicate that mutations in TTLL5 delineate a novel, allele-specific syndrome causing defects in two as yet pathogenically unrelated functions, reproduction and vision
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