HAL Portal UDL Université de Lyon
Not a member yet
327890 research outputs found
Sort by
ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature
No full textInternational audienceBackground Pathogenic gain-of-function or dominant-negative effect missense variations in ACTB are associated with a neurodevelopmental disorder characterised by intellectual disability (ID), seizures, sensorineural hearing loss, cerebral, renal and ocular abnormalities and dysmorphic features (Baraitser-Winter cerebrofrontofacial syndrome). ACTB encodes beta-actin, a highly conserved protein involved in cell motility, structure and integrity. Deletions including ACTB, and, more rarely, single-nucleotide loss-of-function variants in ACTB have been described in patients with a distinct phenotype including developmental delay, ID, microcephaly, growth restriction, cardiac and renal abnormalities and dysmorphic features. Methods We collected 14 individuals and 1 fetus carrying a heterozygous deletion including ACTB , and 4 individuals with a heterozygous truncating variant. Genotypic and phenotypic data were analysed. Furthermore, a comprehensive review of all cases reported to date was also undertaken. Results Twelve out of 17 individuals presented with ID, and 3 out of 17 with learning disabilities. Speech delay and behavioural abnormalities were observed in 15 out of 17 and 12 out of 17 individuals, respectively, motor delay in 9 out of 17 and growth restriction in 9 out of 18. Most of the individuals (13/18) had recognisable dysmorphic features. 11 anomalies were de novo, except for 1 deletion inherited from the mother. The size of the deletion varied from 125 kb to 1.6 Mb and could result from a fork stalling and template switching. Conclusion This study allowed us to better characterise the phenotype associated with the haploinsufficiency of ACTB, underlying the high prevalence of neurodevelopmental disorders (ID, speech and motor delay, behavioural abnormalities) and growth restriction in this recognisable syndrome
Unveiling selectivity shift in CO2 methanation with TiO2 supported subnanometer Ru particles
No full textInternational audienceThe regulation of selectivity in CO2 hydrogenation is critically important for energy conversion and storage, and has therefore been widely studied. Several hypotheses have been proposed to explain the shift in selectivity from methane to CO, most commonly invoking particle size effects, metal-support interactions, or anion adsorption. However, the catalytic behavior of supported subnanometric metal particles remains poorly understood, limiting the rational design of efficient catalysts for CO2-emission mitigation. Here, we show that for ultradispersed Ru/TiO2 catalysts (Ru < 1 nm), product selectivity can be completely reversed simply by varying the temperature of the reductive pretreatment. A catalyst reduced at 140 °C yields CO at low reaction temperatures and methane above 160 °C, whereas a catalyst reduced at 260 °C produces methane exclusively over the entire 140–260 °C range. Combined ex situ and in situ characterization, supported by DFT calculations, reveals that the selectivity shift does not originate from strong metal-support interactions or particle size effects, but instead from changes in the oxidation state of ruthenium. When a sufficient fraction of metallic Ru is present, the catalyst becomes methane-selective, while a significant proportion of oxidized Ru favors CO formation. These findings provide a new strategy for tuning product selectivity in CO2 hydrogenation by controlling the oxidation state of Ru
Almost cohomology of finite-dimensional Lie rings
No full textWe introduce almost cohomology groups for Lie rings definable in finite-dimensional theory. In particular, we define the 0th and 1st almost cohomology groups of a Lie ring module. Moreover, we prove that the 1st almost cohomology group of a finite-dimensional definable Lie ring module is finite if the 0th almost cohomology group is finite
Écosystèmes, transformation numérique, entrepreneuriat et PME : une exploration bibliométrique.
No full textInternational audienceCet article propose une analyse de la littérature académique à l’intersection des recherches sur les écosystèmes, la transformation numérique des PME ou de l’entrepreneuriat. Cette littérature semble marquée par une hétérogénéité terminologique et une instabilité conceptuelle. L’objectif est de comprendre la construction progressive de ces travaux, de cartographier les contributions existantes et d’orienter les recherches futures.Une approche bibliométrique combinant l’analyse de co-citations des références (ACCR) et l’analyse de couplage bibliographique des documents (ACBD) a été mise en œuvre. Les résultats montrent que les travaux sont largement concentrés sur l’influence du numérique dans la structuration des écosystèmes liés à l’entrepreneuriat, avec une focalisation dominante sur les start-ups, tandis que la manière dont ces écosystèmes façonnent, en retour, la transformation numérique des PME établies reste peu explorée.Par ailleurs, plusieurs défis persistent : l'absence d’un vocabulaire unifié, un manque de structuration des rôles et la nécessité d’appréhender la coordination des écosystèmes entre eux. En réponse, une définition de l'écosystème support à la transformation numérique des PME est proposée. Ce travail appelle à un programme de recherche structuré sur ce concept, de son rôle dans les trajectoires numériques des PME et de la conception de dispositifs adaptés à leurs contraintes
Review of Prognosis Approaches Applied to Power SiC MOSFETs for Health State and Remaining Useful Life Prediction
No full textInternational audienceThe use of Silicon Carbide (SiC) MOSFETs significantly improves converter performance by increasing efficiency and reducing costs, to the detriment of electro-magnetic emission and reliability. Implementing a predictive maintenance strategy based on a prognosis tool can mitigate this limitation. This literature review offers a methodological synthesis of prognosis design tools for SiC MOSFETs, while also encompassing studies on IGBTs and silicon-based power MOSFETs where these approaches are transferable. The analysis focuses on wear-out prognosis under nominal operating conditions of standard package device, excluding environmental constraints. Articles published up to 2025 were identified in the OpenAlex database using a keyword-based search and manually filtered according to the study scope. Most reviewed works rely on Data-Based prognosis methods, mostly based on neural networks, though out-of-sample validation remains uncommon. Our study also highlights the dependence of Data-Based prognosis performance on the shape of degradation indicator trends. Moreover, the estimation of prediction uncertainty is rarely addressed in the reviewed literature. Despite notable methodological advances, ensuring the reliability of prognosis tools for SiC MOSFETs remains an ongoing research challenge
A Comparative Optimal Control Study of Protecting Susceptibles and Isolating Infecteds in SIR Models
No full textThere are several approaches to controlling the spread of infectious diseases. Among the most widely used measures are the protection of susceptible individuals and the isolation of infected ones. This raises a critical question: which strategy — protecting susceptible individuals, isolating infected ones, or combining both — most effectively mitigates disease transmission? The work proposed here, address this question by analyzing protection and isolation strategies within the framework of the classical SIR (Susceptible-Infected-Recovered) epidemic model. Three scenarios are considered: (i) combined protection and isolation, (ii) protection alone, and (iii) isolation alone. Using Optimal Control Theory, we show that, in the short-term context of epidemic control, combining protection and isolation generally provides the most effective and robust strategy. However, when the combination is unavailable or unnecessary, isolation tends to outperform protection, particularly under challenging conditions such as high transmission rates or low recovery rates. Protection alone can still be effective, but primarily in settings where recovery rates are sufficiently high.These results contrast with those obtained from autonomous models, in which, in the long-term dynamics, protecting susceptible individuals proved to be more effective than isolating the infected
Global Hopf Bifurcation Analysis for a Delayed Nicholson's Blowflies Model with Constant Reproductive Supply
No full textWe investigate the dynamics of a delayed Nicholson's blowflies equation incorporating a constant reproductive supply that influences both density-dependent competition and egg production. The existence and local stability of the positive equilibrium are characterized via the analysis of the associated implicit and characteristic equations. Both local and global Hopf bifurcations are examined to establish conditions for the emergence of periodic solutions. Analytical and numerical results show that increasing the reproductive supply can restore the stability of the positive equilibrium by increasing the critical delay for the onset of Hopf bifurcation, in parameter regimes where sustained oscillations would otherwise occur
La infancia como cuna de la desigualdad de género en el deporte
No full textInternational audienceNuestras investigaciones constatan un aumento del deporte en Francia desde los años 60 impulsado por políticas públicas y cambios en representaciones de género.El análisis de los menores de cinco años revela una "pedagogización del ocio" que reproduce la estructura y las normas de la forma escolar.Aunque existe paridad inicial, el diferencial de género se construye precozmente entre los 5 y 9 años mediante la socialización infantil.Las instituciones suelen ofrecer una mixidad no reflexionada que permite la reproducción de los estereotipos de género vehiculados por las familias.Se concluye que existe un potencial educativo inexplorado que requiere integrar activamente la igualdad y el desarrollo motor desde la primera infancia
