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Cette recherche s'applique aux témoins glaciaires des Chablais dans quatre de leurs dimensions : géopatrimoine, connaissance objective, inventaire de géosites et valorisation. Elle est organisée sur le canevas d'un processus de patrimonialisation auquel elle participe et qu'elle interroge à la fois. En 2009, débutait le projet 123 Chablais, pour une durée de quatre ans. Il concernait l'ensemble du territoire chablaisien, réparti sur deux pays (France et Suisse) et trois entités administratives (département de la Haute-Savoie, cantons de Vaud et du Valais). Ce projet, élaboré dans le cadre du programme Interreg IV France-Suisse, avait pour but de dynamiser le développement économique local en s'appuyant sur les patrimoines régionaux. Le géopatrimoine, identifié comme une de ces ressources, faisait donc l'objet de plusieurs actions, dont cette recherche. En parallèle, le Chablais haut-savoyard préparait sa candidature pour rejoindre l'European Geopark Network (EGN). Son intégration, effective dès 2012, a fait de ce territoire le cinquième géoparc français du réseau. Le Geopark du Chablais fonde son identité géologique sur l'eau et la glace, deux thématiques intimement liées aux témoins glaciaires. Dans ce contexte d'intérêt pour le géopatrimoine local et en particulier pour le patrimoine glaciaire, plusieurs missions ont été assignées à cette recherche qui devait à la fois améliorer la connaissance objective des témoins glaciaires, inventorier les géosites glaciaires et valoriser le patrimoine glaciaire. Le premier objectif de ce travail était d'acquérir une vision synthétique des témoins glaciaires. Il a nécessité une étape de synthèse bibliographique ainsi que sa spatialisation, afin d'identifier les lacunes de connaissance et la façon dont ce travail pouvait contribuer à les combler. Sur cette base, plusieurs méthodes ont été mises en oeuvre : cartographie géomorphologique, reconstitution des lignes d'équilibre glaciaires et datations de blocs erratiques à l'aide des isotopes cosmogéniques produits in situ. Les cartes géomorphologiques ont été élaborées en particulier dans les cirques et vallons glaciaires. Les datations cosmogéniques ont été concentrées sur deux stades du glacier du Rhône : le Last Local Glacial Maximum (LLGM) et le stade de Monthey. Au terme de cette étape, les spécificités du patrimoine glaciaire régional se sont révélées être 1) une grande diversité de formes et des liens étroits avec différents autres processus géomorphologiques ; 2) une appartenance des témoins glaciaires à dix grandes étapes de la déglaciation du bassin lémanique. Le second objectif était centré sur le processus d'inventaire des géosites glaciaires. Nous avons mis l'accent sur la sélection du géopatrimoine en développant une approche basée sur deux axes (temps et espace) identifiés dans le volet précédent et avons ainsi réalisé un inventaire à thèmes, composé de 32 géosites. La structure de l'inventaire a également été explorée de façon à intégrer des critères d'usage de ces géosites. Cette démarche, soutenue par une réflexion sur les valeurs attribuées au géopatrimoine et sur la façon d'évaluer ces valeurs, nous a permis de mettre en évidence le point de vue anthropo - et scientifico - centré qui prévaut nettement dans la recherche européenne sur le géopatrimoine. L'analyse des résultats de l'inventaire a fait apparaître quelques caractéristiques du patrimoine glaciaire chablaisien, discret, diversifié, et comportant deux spécificités exploitables dans le cadre d'une médiation scientifique : son statut de « berceau de la théorie glaciaire » et ses liens étroits avec des activités de la vie quotidienne, en tant que matière première, support de loisir ou facteur de risque. Cette recherche a débouché sur l'élaboration d'une exposition itinérante sur le patrimoine glaciaire des Chablais. Ce produit de valorisation géotouristique a été conçu pour sensibiliser la population locale à l'impact des glaciers sur son territoire. Il présente une série de sept cartes de stades glaciaires, encadrées par les deux mêmes thématiques, l'histoire de la connaissance glaciaire d'une part, les témoins glaciaires et la société, d'autre part. -- This research focuses on glacial witnesses in the Chablais area according to four dimensions : geoheritage, objective knowledge, inventory and promotion of geosites. It is organized on the model of an heritage's process which it participates and that it questions both. In 2009, the project 123 Chablais started for a period of four years. It covered the entire chablaisien territory spread over two countries and three administrative entities (département of Haute-Savoie, canton of Vaud, canton of Valais). This project, developed in the framework of the Interreg IV France-Switzerland program, aimed to boost the local development through regional heritage. The geoheritage identified as one of these resources, was therefore the subject of several actions, including this research. In parallel, the French Chablais was preparing its application to join the European Geopark Network (EGN). Its integration, effective since 2012, made of this area the fifth French Geopark of the network. The Chablais Geopark geological identity was based on water and ice, two themes closely linked to the glacial witnesses. In this context of interest for the regional geoheritage and especially for the glacial heritage, several missions have been assigned to this research which should improve objective knowledge of glacial witnesses, inventory and assess glacial geosites. The objective knowledge's component was to acquire a synthetic vision of the glacial witnesses. It required a first bibliography synthesis step in order to identify gaps in knowledge and how this work could help to fill them. On this basis, several methods have been implemented: geomorphological mapping, reconstruction of the equilibrium-line altitude and dating of glacial erratic blocks using cosmogenic isotopes produced in situ. Geomorphological maps have been developed especially in glacial cirques and valleys. Cosmogenic datings were concentrated on two stages of the Rhone glacier: the Last Local Glacial Maximum (LLGM) and « the stage of Monthey ». After this step, the specificities of the regional glacial heritage have emerged to us as 1) a wide variety of forms and links to various other geomorphological processes; 2) belonging of glacial witnesses to ten major glacial stages of Léman Lake's deglaciation. In the inventory of glacial geosites component we focused on the selection of geoheritage. We developed an approach based on two axes (time and space) identified in the preceding components. We obtained a thematic inventory, consisting of 32 geosites. The structure of the inventory was also explored in the aim to integrate use criteria of geosites. This approach, supported by a thought on the values attributed to the geoheritage and how to assess these values allowed us to highlight the point of view much anthropological - and scientific -centered prevailing in the European research on geoheritage. The analysis of the inventory's results revealed some characteristics of chablaisien glacial heritage, discrete, diverse, and with two features exploitable in the context of a scientific mediation: its status as « cradle of the glacial theory » and its close links with activities of daily life, as raw material, leisure support and risk factor. This research leads to the development of a traveling exhibition on the glacial heritage of the Chablais area. It presents a series of seven glacial stage's cards, framed by the two themes mentioned above: « history of glacial knowledge » and « glacial witnesses and society ».

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Résumé :Une famille souffrant d'un nouveau syndrome oculo-auriculaire, appelé syndrome de Schorderet-Munier, a été identifiée. Ce syndrome est caractérisé par une déformation du lobe de l'oreille et des anomalies ophtalmiques, notamment une microphtalmie, une cataracte, un colobome et une dégénérescence rétinienne. Le gène impliqué dans ce syndrome est NKX5-3 codant un facteur de transcription contenant un homéodomaine. Chez les patient atteints, le gène comporte une délétion de 26 nucléotides provoquant probablement l'apparition d'un codon stop précoce. Ce gène n'est exprimé que dans certains organes dont les testicules et les ganglions cervicaux supérieurs, ainsi que dans les organes touchés par ce syndrome, à savoir le pavillon de l'oreille et l'oeil, surtout lors du développement embryonnaire. Au niveau de la rétine, NKX5-3 est présent dans la couche nucléaire interne et dans la couche dè cellules ganglionnaires et est exprimé de manière polarisée selon un axe temporal > nasal et ventral > dorsal. Son expression in vitro est régulée par Spl, un facteur de transcription exprimé durant le développement de l'oeil chez la souris. NKX5-3 semble lui-même provoquer une inhibition de l'expression de SHH et de EPHA6. Ces gènes sont tous les deux impliqués à leur manière dans le guidage des axones des cellules ganglionnaires de la rétine. Pris ensemble, ces résultats nous permettent donc d'émettre une hypothèse quant à un rôle potentiel de NKX5-3 dans ce processus.Abstract :A family with a new oculo-auricular syndrome, called syndrome of Schorderet-Munier, was identified. This disease is characterised by a deformation of the ear lobule and by several ophthalmic abnormalities, like microphthalmia, cataract, coloboma and a retinal degeneration. The gene, which causes this syndrome, is NKX5-3 coding for a transcription factor contaning a homeodomain. In the affectd patients, the defect consists of a deletion of 26 nucleotides probably producing a premature stop codon. This gene is only expressed in a few organs like testis and superior cervical ganglions, as well as in organs affected by this syndrome, namely the ear pinna and the eye, mainly during embryonic development. In the retina, NKX5-3 is present in the inner nuclear layer and in the ganglion cells layer. It is expressed along a gradient ranging from the temporal retina to nasal retina and from the ventral to the dorsal part. Its in vitro expression is regulated by Spl, a transcription factor expressed during the murine eye development. NKX5-3 seems to inhibit the expression of SHH and EPHA6. These genes are both implicated, in their own way, in the axon guidance of the retinal ganglion cells. Taken together, these results allow us to make an assumption about a potential role of NKX5-3 in this process.

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The recently discovered epithelial sodium channel (ENaC)/degenerin (DEG) gene family encodes sodium channels involved in various cell functions in metazoans. Subfamilies found in invertebrates or mammals are functionally distinct. The degenerins in Caenorhabditis elegans participate in mechanotransduction in neuronal cells, FaNaC in snails is a ligand-gated channel activated by neuropeptides, and the Drosophila subfamily is expressed in gonads and neurons. In mammals, ENaC mediates Na+ transport in epithelia and is essential for sodium homeostasis. The ASIC genes encode proton-gated cation channels in both the central and peripheral nervous system that could be involved in pain transduction. This review summarizes the physiological roles of the different channels belonging to this family, their biophysical and pharmacological characteristics, and the emerging knowledge of their molecular structure. Although functionally different, the ENaC/DEG family members share functional domains that are involved in the control of channel activity and in the formation of the pore. The functional heterogeneity among the members of the ENaC/DEG channel family provides a unique opportunity to address the molecular basis of basic channel functions such as activation by ligands, mechanotransduction, ionic selectivity, or block by pharmacological ligands.

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The purpose of this work was to evaluate the ability of 80 MHz ultrasonography to differentiate intra-retinal layers and quantitatively assess photoreceptor dystrophy in small animal models. Four groups of 10 RCS rats each (five dystrophic and five controls) were explored at 25, 35, 45 and 55 days post-natal (PN). A series of retina cross-sections were obtained ex vivo from outside intact eyes using an 80 MHz three-dimensional ultrasound backscatter microscope (20-microm-axial resolution). Ultrasound features of normal retina were correlated to those of corresponding histology and thickness measurements of photoreceptor segment and nuclear layers were performed on all groups. To show the ability of 80 MHz ultrasonography to distinguish the retinal degeneration in vivo, one RCS rat was explored at 25 and 55 days post-natal. Ultrasound image of normal retina displayed four distinct layers marked by reflections at neurites/nuclei interfaces and permitted to differentiate the photoreceptor segment and nuclear layers. The backscatter level from the retina was shown to be related to the size, density and organization of the intra-layer structure. Ultrasound thickness measurements highly correlated with histologic measurements. A thinning (p<0.05) of outer nuclear layer (ONL) was detected over time for controls and was thought to be assigned to retina maturation. Retinal degeneration started at PN35 and resulted in a more pronounced ONL thinning (p<0.05) over time. ONL degeneration was accompanied by segment layer thickening (p<0.05) at PN35 and thinning thereafter. These changes may indicate accumulation of outer segment debris at PN35 then progressive destruction. In vivo images of rat intra-retinal structure showed the ability of the method to distinguish the photoreceptor layer changes. Our results indicate that 80 MHz ultrasonography reveals intra-retinal layers and is sensitive to age and degenerative changes of photoreceptors. This technique has great potential to follow-up retinal dystrophy and therapeutic effects in vivo.

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Information about the population genetic structures of parasites is important for an understanding of parasite transmission pathways and ultimately the co-evolution with their hosts. If parasites cannot disperse independently of their hosts, a parasite's population structure will depend upon the host's spatial distribution. Geographical barriers affecting host dispersal can therefore lead to structured parasite populations. However, how the host's social system affects the genetic structure of parasite populations is largely unknown. We used mitochondrial DNA (mtDNA) to describe the spatio-temporal population structure of a contact-transmitted parasitic wing mite (Spinturnix bechsteini) and compared it to that of its social host, the Bechstein's bat (Myotis bechsteinii). We observed no genetic differentiation between mites living on different bats within a colony. This suggests that mites can move freely among bats of the same colony. As expected in case of restricted inter-colony dispersal, we observed a strong genetic differentiation of mites among demographically isolated bat colonies. In contrast, we found a strong genetic turnover between years when we investigated the temporal variation of mite haplotypes within colonies. This can be explained with mite dispersal occuring between colonies and bottlenecks of mite populations within colonies. The observed absence of isolation by distance could be the result from genetic drift and/or from mites dispersing even between remote bat colonies, whose members may meet at mating sites in autumn or in hibernacula in winter. Our data show that the population structure of this parasitic wing mite is influenced by its own demography and the peculiar social system of its bat host.

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We have explored the possibility of obtaining first-order permeability estimates for saturated alluvial sediments based on the poro-elastic interpretation of the P-wave velocity dispersion inferred from sonic logs. Modern sonic logging tools designed for environmental and engineering applications allow one for P-wave velocity measurements at multiple emitter frequencies over a bandwidth covering 5 to 10 octaves. Methodological considerations indicate that, for saturated unconsolidated sediments in the silt to sand range and typical emitter frequencies ranging from approximately 1 to 30 kHz, the observable velocity dispersion should be sufficiently pronounced to allow one for reliable first-order estimations of the permeability structure. The corresponding predictions have been tested on and verified for a borehole penetrating a typical surficial alluvial aquifer. In addition to multifrequency sonic logs, a comprehensive suite of nuclear and electrical logs, an S-wave log, a litholog, and a limited number laboratory measurements of the permeability from retrieved core material were also available. This complementary information was found to be essential for parameterizing the poro-elastic inversion procedure and for assessing the uncertainty and internal consistency of corresponding permeability estimates. Our results indicate that the thus obtained permeability estimates are largely consistent with those expected based on the corresponding granulometric characteristics, as well as with the available evidence form laboratory measurements. These findings are also consistent with evidence from ocean acoustics, which indicate that, over a frequency range of several orders-of-magnitude, the classical theory of poro-elasticity is generally capable of explaining the observed P-wave velocity dispersion in medium- to fine-grained seabed sediments

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Animal societies vary in the number of breeders per group, which affects many socially and ecologically relevant traits. In several social insect species, including our study species Formica selysi, the presence of either one or multiple reproducing females per colony is generally associated with differences in a suite of traits such as the body size of individuals. However, the proximate mechanisms and ontogenetic processes generating such differences between social structures are poorly known. Here, we cross-fostered eggs originating from single-queen (= monogynous) or multiple-queen (= polygynous) colonies into experimental groups of workers from each social structure to investigate whether differences in offspring survival, development time and body size are shaped by the genotype and/or prefoster maternal effects present in the eggs, or by the social origin of the rearing workers. Eggs produced by polygynous queens were more likely to survive to adulthood than eggs from monogynous queens, regardless of the social origin of the rearing workers. However, brood from monogynous queens grew faster than brood from polygynous queens. The social origin of the rearing workers influenced the probability of brood survival, with workers from monogynous colonies rearing more brood to adulthood than workers from polygynous colonies. The social origin of eggs or rearing workers had no significant effect on the head size of the resulting workers in our standardized laboratory conditions. Overall, the social backgrounds of the parents and of the rearing workers appear to shape distinct survival and developmental traits of ant brood.

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Exploratory and confirmatory factor analyses reported in the French technical manual of the WISC-IV provides evidence supporting a structure with four indices: Verbal Comprehension (VCI), Perceptual Reasoning (PRI), Working Memory (WMI), and Processing Speed (PSI). Although the WISC-IV is more attuned to contemporary theory, it is still not in total accordance with the dominant theory: the Cattell-Horn-Carroll (CHC) theory of cognitive ability. This study was designed to determine whether the French WISC-IV is better described with the four-factor solution or whether an alternative model based on the CHC theory is more appropriate. The intercorrelations matrix reported in the French technical manual was submitted to confirmatory factor analysis. A comparison of competing models suggests that a model based on the CHC theory fits the data better than the current WISC-IV structure. It appears that the French WISC-IV in fact measures six factors: crystallized intelligence (Gc), fluid intelligence (Gf), short-term memory (Gsm), processing speed (Gs), quantitative knowledge (Gq), and visual processing (Gv). We recommend that clinicians interpret the subtests of the French WISC-IV in relation to this CHC model in addition to the four indices.

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Human immunodeficiency virus type 1 uses ribosomal frameshifting for translation of the Gag-Pol polyprotein. Frameshift activities are thought to be tightly regulated. Analysis of gag p1 sequences from 270 plasma virions identified in 64% of the samples the occurrence of polymorphism that could lead to changes in thermodynamic stability of the stem-loop. Expression in Saccharomyces cerevisiae of p1-beta-galactosidase fusion proteins from 10 representative natural stem-loop variants and three laboratory mutant constructs (predicted the thermodynamic stability [Delta G degrees] ranging from -23.0 to -4.3 kcal/mol) identified a reduction in frameshift activity of 13 to 67% compared with constructs with the wild-type stem-loop (Delta G degrees, -23.5 kcal/mol). Viruses carrying stem-loops associated with greater than 60% reductions in frameshift activity presented profound defects in viral replication. In contrast, viruses with stem-loop structures associated with 16 to 42% reductions in frameshift efficiency displayed no significant viral replication deficit.