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81.
Xavier Vanhoye Alexandre Janin Amandine Caillaud Antoine Rimbert Fabienne Venet Morgane Gossez Wieneke Dijk Oriane Marmontel Sverine Nony Charlotte Chatelain Christine Durand Pierre Lindenbaum Jennifer Rieusset Bertrand Cariou Philippe Moulin Mathilde Di Filippo 《International journal of molecular sciences》2022,23(8)
Hypobetalipoproteinemia is characterized by LDL-cholesterol and apolipoprotein B (apoB) plasma levels below the fifth percentile for age and sex. Familial hypobetalipoproteinemia (FHBL) is mostly caused by premature termination codons in the APOB gene, a condition associated with fatty liver and steatohepatitis. Nevertheless, many families with a FHBL phenotype carry APOB missense variants of uncertain significance (VUS). We here aimed to develop a proof-of-principle experiment to assess the pathogenicity of VUS using the genome editing of human liver cells. We identified a novel heterozygous APOB-VUS (p.Leu351Arg), in a FHBL family. We generated APOB knock-out (KO) and APOB-p.Leu351Arg knock-in Huh7 cells using CRISPR-Cas9 technology and studied the APOB expression, synthesis and secretion by digital droplet PCR and ELISA quantification. The APOB expression was decreased by 70% in the heterozygous APOB-KO cells and almost abolished in the homozygous-KO cells, with a consistent decrease in apoB production and secretion. The APOB-p.Leu351Arg homozygous cells presented with a 40% decreased APOB expression and undetectable apoB levels in cellular extracts and supernatant. Thus, the p.Leu351Arg affected the apoB secretion, which led us to classify this new variant as likely pathogenic and to set up a hepatic follow-up in this family. Therefore, the functional assessment of APOB-missense variants, using gene-editing technologies, will lead to improvements in the molecular diagnosis of FHBL and the personalized follow-up of these patients. 相似文献
82.
Stella Vallejos Polona Umek Toni Stoycheva Fatima Annanouch Eduard Llobet Xavier Correig Patrizia De Marco Carla Bittencourt Chris Blackman 《Advanced functional materials》2013,23(10):1313-1322
Tungsten oxide nanostructures functionalized with gold or platinum NPs are synthesized and integrated, using a single‐step method via aerosol‐assisted chemical vapour deposition, onto micro‐electromechanical system (MEMS)‐based gas‐sensor platforms. This co‐deposition method is demonstrated to be an effective route to incorporate metal nanoparticles (NP) or combinations of metal NPs into nanostructured materials, resulting in an attractive way of tuning functionality in metal oxides (MOX). The results show variations in electronic and sensing properties of tungsten oxide according to the metal NPs introduced, which are used to discriminate effectively analytes (C2H5OH, H2, and CO) that are present in proton‐exchange fuel cells. Improved sensing characteristics, in particular to H2, are observed at 250 °C with Pt‐functionalized tungsten oxide films, whereas non‐functionalized tungsten oxide films show responses to low concentrations of CO at low temperatures. Differences in the sensing characteristics of these films are attributed to the different reactivities of metal NPs (Au and Pt), and to the degree of electronic interaction at the MOX/metal NP interface. The method presented in this work has advantages over other methods of integrating nanomaterials and devices, of having fewer processing steps, relatively low processing temperature, and no requirement for substrate pre‐treatment. 相似文献
83.
Jari Rosti Juha Koivisto Paola Traversa Xavier Illa Jean-Robert Grasso Mikko J. Alava 《International Journal of Fracture》2008,151(2):281-297
The dynamics of a “peeling front” or an elastic line is studied under creep (constant load) conditions. Our experiments show
in most cases an exponential dependence of the creep velocity on the inverse force (mass) applied. In particular, the dynamical
correlations of the avalanche activity are discussed here. We compare various avalanche statistics to those of a line with
non-local elasticity, and study various measures of the experimental avalanche-avalanche and temporal correlations such as
the autocorrelation function of the released energy and aftershock activity. From all these we conclude, that internal avalanche
dynamics seems to follow “line depinning”-like behavior, in rough agreement with the depinning model. Meanwhile, the correlations
reveal subtle complications not implied by depinning theory. Moreover, we also show how these results can be understood from
a geophysical point of view. 相似文献
84.
Camilo Castro López Xavier Lefebvre Nadège Brusselle-Dupend Marie-Hélène Klopffer Laurent Cangémi Sylvie Castagnet Jean-Claude Grandidier 《Journal of Materials Science》2016,51(8):3750-3761
This paper discusses the effect of porosity and hydrostatic pressure on diffusion kinetics and equilibrium water uptake in a semicrystalline fluoropolymer. Water sorption experiments at atmospheric pressure and under water pressures up to 250 MPa were carried out during 18 months at 40 °C on reference and porous samples. Porosity of samples was induced due to a cavitation process occurring at the highest triaxiality area of waisted and notched specimens during tensile tests. Water uptake was found to be very sensitive to porosity, showing an increase in samples with a high void fraction. On the other hand, water content decreased with increasing pressure suggesting a compaction of the porous space in which water can be stored. Two models describing this water uptake behaviour were considered. The first is a classical model which assumes that sorption occurs only by diffusion following Fick’s law. Fick’s model was found to be in agreement with the experimental results. A “Langmuir-type” sorption model was also proposed to describe water uptake in porous samples, considering a two-phase water transport mechanism: one portion of the absorbed water diffuses through the polymer matrix and the other portion is stored in voids. This model was implemented in a user subroutine using ABAQUS? software and simulations were confronted to experimental sorption curves showing satisfactory agreements. The potential of the Langmuir-type sorption model resides on its availability to be coupled to a poro-mechanical model, in order to improve the understanding of coupling between the mechanical behaviour and water sorption mechanism in a porous polymer. 相似文献
85.
Hamidreza Mahdavi Huacheng Zhang Lauren K.Macreadie Cara M.Doherty Durga Acharya Stefan J.D.Smith Xavier Mulet Matthew R.Hill 《Nano Research》2022,(4):3533-3538
Porous liquids(PLs)offer the potential to combine the ready handling and mature industry status of liquid absorbents,with the high permanent porosity of metal o... 相似文献
86.
Joachim J. Schouteten Hans De Steur Benedikt Sas Ilse De Bourdeaudhuij Xavier Gellynck 《Journal of dairy science》2017,100(1):169-186
Although sensory and emotional evaluation of food products mostly occurs in a controlled laboratory environment, it is often criticized as it may not reflect a realistic situation for consumers. Moreover, products are mainly blind evaluated by participants, whereas external factors such as brand are often considered as key drivers of food choice. This study aims to examine the role of research setting (central location test versus home-use test) and brand information on the overall acceptance, and sensory and emotional profiling of 5 strawberry-flavored yogurts. Thereby, private label and premium brands are compared under 3 conditions: blind, expected, and informed (brand information). A total of 99 adult subjects participated in 3 sessions over 3 consecutive weeks. Results showed that overall liking for 2 yogurt samples was higher in the laboratory environment under the informed evaluation condition, whereas no effect of research setting was found under the blind and expected conditions. Although emotional profiles of the products differed depending on the research setting, this was less the case for the sensory profiles. Furthermore, brand information clearly affected the sensory perception of certain attributes but had less influence on overall liking and emotional profiling. These results indicate that both scientists and food companies should consider the effect of the chosen methodology on ecological validity when conducting sensory research with consumers because the laboratory context could lead to a more positive evaluation compared with a home-use test. 相似文献
87.
Zeeshan Hafeez Céline Cakir-Kiefer Xavier Lecomte Laurent Miclo Annie Dary-Mourot 《Journal of dairy science》2019,102(1):113-123
This study addresses the hypothesis that the extracellular cell-associated X-prolyl dipeptidyl-peptidase activity initially described in Streptococcus thermophilus could be attributable to the intracellular X-prolyl dipeptidyl-peptidase PepX. For this purpose, a PepX-negative mutant of S. thermophilus LMD-9 was constructed by interrupting the pepX gene and named LMD-9-ΔpepX. When cultivated, the S. thermophilus LMD-9 wild type strain grew more rapidly than its ΔpepX mutant counterpart. Thus, the growth rate of the LMD-9-ΔpepX strain was reduced by a factor of 1.5 and 1.6 in milk and LM17 medium (M17 medium supplemented with 2% lactose), respectively. The negative effect of the PepX inactivation on the hydrolysis of β-casomorphin-7 was also observed. Indeed, when incubated with this peptide, the LMD-9-ΔpepX mutant cells were unable to hydrolyze it, whereas this peptide was completely degraded by the S. thermophilus LMD-9 wild type cells. This hydrolysis was not due to leakage of intracellular PepX, as no peptide hydrolysis was highlighted in cell-free filtrate of wild type strain. Therefore, based on these results, it can be presumed that though lacking an export signal, the intracellular PepX might have accessed the β-casomorphin-7 externally, perhaps via its galactose-binding domain-like fold, this domain being known to help enzymes bind to several proteins and substrates. Therefore, the identification of novel distinctive features of the proteolytic system of S. thermophilus will further enhance its credibility as a starter in milk fermentation. 相似文献
88.
lvaro Hernez Albert Sanllorente Olga Castaer Miguel . Martínez‐Gonzlez Emilio Ros Xavier Pint Ramn Estruch Jordi Salas‐Salvad Dolores Corella ngel M. Alonso‐Gmez Lluis Serra‐Majem Miquel Fiol Jos Lapetra Enrique Gmez‐Gracia Rafael de la Torre Rosa‐María Lamuela‐Ravents Montserrat Fit 《Molecular nutrition & food research》2019,63(6)
89.
90.