Calcium (Ca2+) acts as a ubiquitous second messenger, and normal cell and tissue physiology strictly depends on the precise regulation of Ca2+ entry, storage, and release. Store‐operated Ca2+ entry (SOCE) is a major mechanism controlling extracellular Ca2+ entry, and mainly relies on the accurate interplay between the Ca2+ sensor STIM1 and the Ca2+ channel ORAI1. Mutations in STIM1 or ORAI1 result in abnormal Ca2+ homeostasis and are associated with severe human disorders. Recessive loss‐of‐function mutations impair SOCE and cause combined immunodeficiency, while dominant gain‐of‐function mutations induce excessive extracellular Ca2+ entry and cause tubular aggregate myopathy (TAM) and Stormorken syndrome (STRMK). TAM and STRMK are spectra of the same multisystemic disease characterized by muscle weakness, miosis, thrombocytopenia, hyposplenism, ichthyosis, dyslexia, and short stature. To date, 42 TAM/STRMK families have been described, and here we report five additional families for which we provide clinical, histological, ultrastructural, and genetic data. In this study, we list and review all new and previously reported STIM1 and ORAI1 cases, discuss the pathomechanisms of the mutations based on the known functions and the protein structure of STIM1 and ORAI1, draw a genotype/phenotype correlation, and delineate an efficient screening strategy for the molecular diagnosis of TAM/STRMK.
This paper tries to evaluate morphological influence on the production of surface run-offs in natural ungauged catchments in the Mediterranean region. The goal is to analyse the type of relation between morphological descriptors of hydrological networks and catchments and their hydrological responses under rainfall episodes. Is the relation unique and stable in space and time? Is it scale dependent? Does it correspond to distinct hydrological functioning?
La circulation des grandes haches polies durant la seconde moitié du Ve millénaire avant J.-C. est un phénomène majeur du Néolithique en Europe occidentale. Trois découvertes récentes de haches en roches alpines sont intégrées à cette problématique. Les deux haches de Vendeuil, trouvées plantées dans le sol, tranchant vers le haut, illustrent le statut de ces outils sur-dimensionnés, que la valorisation sociale a porté en direction des rituels et du domaine du sacré; leur origine démontrée est le Monviso (Piémont, Italie), dans des carrières à 2400 m d'altitude. Quant aux deux autres haches, on peut proposer une origine du côté du Monviso ou de Voltri, bien que les analyses spectroradiométriques ne permettent pas encore de le démontrer.
Cet article présente plusieurs remarquables découvertes de vestiges archéobotaniques provenant d'un site gallo-romain de la moyenne vallée de l'Oise : Le Bois Harlé-La Queue de Rivecourt à Longueil-Sainte-Marie (Oise). Il s'agit notamment de restes de fruits de pin pignon (Pinus pinea) et de gourde calebasse (Lagenaria sicerariaj, ainsi que de graines de bette/betterave (Beta vulgaris) et de buis (Buxus sempervirens). Ces vestiges permettent de s'interroger sur les lieux de production et témoignent du dynamisme de l'arboriculture et de l'horticulture gallo-romaines.
Correlation between nine littoral dwelling sites of the lakes of Chalain and Clairvaux (Jura, France) has allowed to build an almost continuous chronology for the final Neolithic, covering the period from 3200 to 2600 BC. This sequence is checked through dendrochronology : it spans the succession of the Horgen, Clairvaux and Chalain cultures. For this sequence, the study of 484 objects of adornment out of wood, stone, bone, antler and shell was done, in connection with the ceramic evolution and the cultural stimuli formerly recognized.
This exceptional series of well dated ornaments allows to show the coming of outside populations in the Combe d'Ain, and in particular small groups coming from the Horgen of Western Switzerland and from the Ferrières of Ardèche, echoing what had been already perceived in the ceramic styles. This series allows also to distinguish phases of stylistical regionalization, as in the case of local manufactures of ornaments, and the reinterpretation of the Ferrières symbols. Further evidences are attained : the evolution of the symbolic of ornaments closely follows rapid changes of the environmental context and of the economy. To an ancient phase (Horgen 3200 BC) where hunting, trophy quest and the use of only slightly modified animal ornaments were prevalent, succeeds a recent one (Clairvaux, 2800 BC) where beads and pendants, made out of stone, were privileged whereas deforested landscape and husbandry take on importance.
This striking parallelism between the symbolic data and the environmental context could be explained by social determinisms of general value, those linked to variations in the density of the population and to the impact of man on the forest.
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