pinecone/core-2020-05-10-deduplication huggingface dataset:
Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.

International audienceCentral core disease is a myopathy often arising from mutations in the type 1 ryanodine receptor (RYR1) gene, encoding the sarcoplasmic reticulum calcium release channel RyR1. No treatment is currently available for this disease. We studied the pathological situation of a severely affected child with two recessive mutations, which resulted in a massive reduction in the amount of RyR1. The paternal mutation induced the inclusion of a new in-frame pseudo-exon in RyR1 mRNA that resulted in the insertion of additional amino acids leading to the instability of the protein. We hypothesized that skipping this additional exon would be sufficient to restore RyR1 expression and to normalize calcium releases. We therefore developed U7-AON lentiviral vectors to force exon skipping on affected primary muscle cells. The efficiency of the exon skipping was evaluated at the mRNA level, at the protein level, and at the functional level using calcium imaging. In these affected cells, we observed a decreased inclusion of the pseudo-exon, an increased RyR1 protein expression, and a restoration of calcium releases of normal amplitude either upon direct RyR1 stimulation or in response to membrane depolarization. This study is the first demonstration of the potential of exon-skipping strategy for the therapy of central core disease, from the molecular to the functional level
Analysis of PEM fuel cell experimental data using Principal Component Analysis and Multi linear regression

International audiencePolarisation curves performed at the Fuel Cell System Laboratory (FC LAB) at Belfort on a PEM fuel cell stack using a homemade fully instrumented test bench led to more than 100 variables depending on time. Visualising and analysing all the different test variables are complex. In this work, we show how the Principal Component Analysis (PCA) method helps to explore correlations between variables and similarities between measurements at a specific sampling time (individuals). To complete this method, an empirical model of the PEM fuel cell is proposed by linking the different input parameters to the cell voltage using Multiple Linear Regressions. Proton exchange membrane (PEM) fuel cell; Principal Component Analysis (PCA); Multiple Linear Regression; statistical analysis
The partitioning of transitional metals (Fe, Mn, Ni, Cr) in mangrove sediments downstream of a ferralitised ultramafic watershed (New Caledonia)

International audienceIn New Caledonia, one third of the Island is composed of ultramafic rocks, and lateritic soils enriched in Fe, Ni and Cr. Open-cast mining occurs all around the Island, and processes of erosion and sedimentation, which occur naturally along the coastline, are strongly amplified by mining activities. Due to their position, at the interface between land and sea, mangroves receive extensive amounts of particles emanating from rivers through estuaries. The purpose of this study is to understand the distribution and partitioning of some transitional metals (Fe, Mn, Ni, Cr) in sediments and pore-waters in a mangrove swamp, which is situated downstream of a catchment characterized by lateritic soils that were exploited a century ago. Quantitative analyses on bulk and after selective extraction, were carried out on cores collected along a transect within the intertidal zone, i.e. beneath a Rhizophora stylosa stand, an Avicennia marina stand, and within a salt flat. Mean metal concentrations were (μmol g-1): Fe (1997)>Ni (44.2)>Cr (31.9)>Mn (8.8). Thus, Ni, Cr and Fe concentrations in this study are substantially higher than mangrove world average. In addition, Ni concentrations are 10 to 100 times higher than in other New Caledonian mangrove developing downstream of a catchment not composed of ultramafic rocks. The studied mangrove is characterized by gradients of water and organic contents with depth and along the intertidal zone, which induced different redox conditions, and thus different metals partitioning. Transitional metals are deposited in the mangrove mainly as oxides and/or oxyhydroxydes, that are subsequently dissolved by bacteria for the decomposition of organic matter, and which leads to a strong increase of metals in the dissolved phase. Then, dissolved metals precipitated with organic and sulphide compounds. To conclude, organic diagenesis in mangrove sediments leads to the transfer of transitional metals from oxide form to organic and sulphide forms
Crystal bending, subgrain boundary development, and recrystallization in orthopyroxene during granulite-facies deformation

International audienceA prominent feature of a granulite-facies shear zone from the Hidaka Main Zone (Japan) is the folding of orthopyroxene (opx) porphyroclasts. Dislocation density estimated by transmission electron microscope (TEM) and chemical etching in homogeneously folded domains is too low to account for the amplitude of crystallographic bending, leading us to propose a model similar to "flexural slip" folding, where folded layers are micrometer-wide opx layers between thin planar clinopyroxene (cpx) exsolutions. Extension (compression) in the extrados (intrados) of the folded layer is accommodated by dislocations at the cpx-opx interfaces. Alternatively to distributed deformation, crystal bending also localizes in grain boundaries (GBs), mostly oriented close to the (001) plane and with various misorientation angles but misorientation axes consistently close to the b-axis. For misorientation up to a few degrees, GBs were imaged as tilt walls composed of regularly spaced (100)[001] dislocations. For misorientation angles of 7°, individual dislocations are no longer visible, but high-resolution TEM (HRTEM) observation showed the partial continuity of opx tetrahedral chains through the boundary. For 21° misorientation, the two adjacent crystals are completely separated by an incoherent boundary. In spite of these atomic-scale variations, all GBs share orientation and rotation axis, suggesting a continuous process of misorientation by symmetric incorporation of (100)[001] dislocations. In addition to the dominant GBs perpendicular to the (100) plane, boundaries at low angle with (100) planes are also present, incorporating dislocations with a component of Burgers vector along the a-axis. The two kinds of boundaries combine to delimit subgrains, which progressively rotate with respect to host grains around the b-axis, eventually leading to recrystallization of large porphyroclasts
Digital Circles, Spheres and Hyperspheres: From Morphological Models to Analytical Characterizations and Topological Properties

International audienceIn this paper we provide an analytical description of various classes of digital circles, spheres and in some cases hyperspheres, defined in a morphological framework. The topological properties of these objects, especially the separation of the digital space, are discussed according to the shape of the structuring element. The proposed framework is generic enough so that it encompasses most of the digital circle definitions that appear in the literature and extends them to dimension 3 and sometimes dimension n
Reverse polarized inductive coupling to transmit and receive radiofrequency coil arrays

Cataloged from PDF version of article.In this study, the reverse polarization method is implemented using transmit and receive arrays to improve the visibility of the interventional devices. Linearly polarized signal sourcesinductively and receptively coupled radiofrequency coilsare used in the experimental setups to demonstrate the ability of the method to separate these sources from a forward polarized anatomy signal. Two different applications of the reverse polarization method are presented here: (a) catheter tracking and (b) fiducial marker visualization, in both of which transmit and receive arrays are used. The performance of the reverse polarization method was further tested with phantom and volunteer studies, and the results proved the feasibility of this method with transmit and receive arrays. Magn Reson Med, 2012. (C) 2011 Wiley Periodicals, In
A Stochastic Version of the Dynamic Linear Programming Model MESSAGE III

This paper introduces an approach to modeling the uncertainties concerning future characteristics of energy technologies within the framework of long-term dynamic linear programming models. The approach chosen explicitly incorporates the uncertainties in the model, endogenizing interaction between decision structure and uncertainties involved. The use of this approach for future investment costs of electricity generation technologies in the framework of very long-term energy scenarios shows improvement in model behavior and more robust solutions with respect to technology choices made
A new monthly chronology of the US industrial cycles in the prewar economy

International audienceThis article extends earlier efforts at redating the US industrial cycles for the prewar period (1890-1938) using the methodologies proposed by Bry and Boschan (1971) and Hamilton (1989) and based on the monthly industrial production index constructed by Miron and Romer (1990) and modified by Romer (1994). The alternative chronology detects 90% of the peaks and troughs identified by the NBER and Romer (1994), but the new dates are consistently dated earlier for more than 50% of them, especially as regards the NBER troughs. The new dates affect the comparison of the average duration of recessions and expansions in both pre-WWI and interwar eras. Whereas the NBER reference dates show an increase in average duration of the expansions between the pre-WWI and interwar periods, the new dates show evidence of shortened length of expansions. However, the new dates confirm the traditional finding that contractions lasted longer in the postwar period than during the prewar period
Symbolic Unfolding of Parametric Stopwatch Petri Nets

International audienceWe address the problem of unfolding safe parametric stopwatch time Petri nets (PSwPNs), i.e., safe time Petri nets (TPNs) possibly extended with time parameters and stopwatches. We extend the notion of branching process to account for the dates of the occurrences of events and thus defi ne a symbolic unfolding for PSwPNs. In the case of TPNs we also propose a method based on our so-called time branching processes to compute a fi nite complete pre fix of the symbolic unfolding. The originality of our work relies on a precise handling of direct conflicts between events, and the analysis of their eff ects on the constraints between the fi ring dates of those events
Dinkelbach Approach to Solving a Class of Fractional Optimal Control Problems

We consider optimal control problems with functional given by the ratio of
two integrals (fractional optimal control problems). In particular, we focus on a special
case with affine integrands and linear dynamics with respect to state and control.
Since the standard optimal control theory cannot be used directly to solve a problem
of this kind, we apply Dinkelbach’s approach to linearize it. Indeed, the fractional optimal
control problem can be transformed into an equivalent monoparametric family
{ P q } of linear optimal control problems. The special structure of the class of problems
considered allows solving the fractional problem either explicitly or requiring
straightforward classical numerical techniques to solve a single equation. An application
to advertising efficiency maximization is presented
A Scale Independent Selection Process for 3D Object Recognition in Cluttered Scenes

During the last years a wide range of algorithms\ud
and devices have been made available to easily acquire range\ud
images. The increasing abundance of depth data boosts\ud
the need for reliable and unsupervised analysis techniques,\ud
spanning from part registration to automated segmentation.\ud
In this context, we focus on the recognition of known objects\ud
in cluttered and incomplete 3D scans. Locating and fitting a\ud
model to a scene are very important tasks in many scenarios \ud
such as industrial inspection, scene understanding, medical \ud
imaging and even gaming. For this reason, these problems \ud
have been addressed extensively in the literature. Several \ud
of the proposed methods adopt local descriptor-based\ud
approaches, while a number of hurdles still hinder the use\ud
of global techniques. In this paper we offer a different \ud
perspective on the topic: We adopt an evolutionary selection \ud
algorithm that seeks global agreement among surface points,\ud
while operating at a local level. The approach effectively\ud
extends the scope of local descriptors by actively selecting\ud
correspondences that satisfy global consistency constraints,\ud
allowing us to attack a more challenging scenario where\ud
model and scene have different, unknown scales. This leads\ud
to a novel and very effective pipeline for 3D object recognition, \ud
which is validated with an extensive set of experiment
The Levallois Mousterian assemblages of Sindh (Pakistan) and their relations with the Middle Palaeolithic of the Indian Subcontinent

The research carried out in the Indian Subcontinent, Central Asia, Iran, and the Arabian Peninsula has improved
our knowledge of the Middle Paleolithic in the regions. However, the southeasternmost distribution of the Levallois
Mousterian is still poorly defined. Although typical Levallois industries are known from Iran, Afghanistan, and
Uzbekistan, they are almost unknown in the Indian Subcontinent, except for Lower Sindh and the Indus Valley. The
evidence from Ongar and other sites in Sindh has shed some light on the possible southeasternmost distribution routes
of the Neanderthals that are considered the probable creators of the assemblages included in this study
Non-speech Voice for Sonic Interaction: A Catalogue

This paper surveys the uses of non-speech voice as an interaction modality within sonic applications. Three main contexts of use have been identified: sound retrieval, sound synthesis and control, and sound design. An overview of different choices and techniques regarding the style of interaction, the selection of vocal features and their mapping to sound features or controls is here displayed. A comprehensive collection of examples instantiates the use of non-speech voice in actual tools for sonic interaction. It is pointed out that while voice-based techniques are already being used proficiently in sound retrieval and sound synthesis, their use in sound design is still at an exploratory phase. An example of creation of a voice-driven sound design tool is here illustrated
Gene expression profiles of 1-(4-amino-2-methyl-5-pyrimidinyl)-methyl-3-(2-chloroethyl)-3-nitrosourea (ACNU)-resistant C6 rat glioma cells

Chemotherapy in itself is suspected to cause the development or selection of drug-resistant tumor cells, which have more aggressive phenotypes. The authors investigated the differential changes of gene expression in the 1 -(4-amino-2-methyl-5-pyrimidinyl)-methyl-3-(2-chloroethyl)-3-nitrosourea (ACNU)-resistant subline of the C6 rat glioma (C6AR2), which was established from C6 rat glioma cells by exposure to ACNU in vitro. The resistance to ACNU of C6AR2 was confirmed by MTS assay. The increased expression of O^6-methylguanine-DNA methyl-transferase in C6AR2 cells was shown using RT-PCR. C6AR2 cells displayed a higher proliferative activity relative to C6 cells. Analysis with cDNA array showed that 19 genes were transcriptionally up-regulated and 16 genes down-regulated in C6AR2 cells compared to C6 cells. They belonged to various functional classes of genes beside the drug-resistant system. Among them, the down-regulation of several genes in C6AR2 cells, including c-kit, pleiotrophin, platelet-derived growth factor receptor-a, peripheral myelin protein-22 and NG2 chondroitin sulfate proteoglycan, which are expressed originally in developmental glial linages, were verified using semi-quantitative RT-PCR. In addition, the gene expression of astroglial intermediate filament proteins, including GFAP, vimentin and nestin, were decreased in C6AR2 cells relative to C6 cells in semi-quantitative RT-PCR and immunocytochemistry. These findings may represent an undifferentiated state of ACNU-resistant glioma cells and a more aggressive phenotype in recurrent tumors following chemotherapy
Neural substrates participating in acquisition of facial familiarity: an fMRI study

The amygdala is related to recognition of faces and emotions, and functional magnetic resonance imaging (fMRI) studies have reported that the amygdala is habituated over time with repetition of facial stimuli. When subjects are presented repeatedly with unfamiliar faces, they come to gradually recognize the unfamiliar faces as familiar. To investigate the brain areas participating in the acquisition of familiarity to repeatedly presented unfamiliar faces, we conducted an fMRI study in 16 healthy subjects. During the task periods, the subjects were instructed to see presented unfamiliar faces repeatedly and to judge whether the face was male or female or whether the face had emotional valences. The experiment consisted of nine sessions. To clarify the brain areas that showed increasing or decreasing activation as the experimental session proceeded, we analyzed the fMRI data using specified linear covariates in the face recognition task from the first session to the ninth session. Imaging data were investigated on a voxel-by-voxel basis for single-group analysis according to the random effect model using Statistical Parametric Mapping. The bilateral posterior cingulate cortices showed significant increases in activity as the experimental sessions proceeded, while the activation in the right amygdala and the left medial fusiform gyrus decreased. Thus, the posterior cingulate cortex may play an important role in the acquisition of facial familiarity
Analysis of the Demagnetization Process of Nd-Fe-B Sintered Magnets at Elevated Temperatures by Magnetic Domain Observation Using a Kerr Microscope

Magnetization reversal and its propagation in sintered Nd–Fe–B magnets were clearly observed at elevated temperatures up to 150 °C using a Kerr microscope, image processing, and photo editing. Simultaneous magnetization reversal in several grains along the easy axis direction occurred at elevated temperature, and the extent of simultaneous magnetization reversal increased with temperature. This indicates that reduction in the coercivity of Nd–Fe–B sintered magnets at elevated temperatures is attributable to decrease in anisotropy and insufficient pinning of domain walls at grain boundaries
NMR Investigation of Structures of G-Protein Coupled Receptor Folding Intermediates

Folding of G-protein coupled receptors (GPCRs) according to the two-stage model (Popot et al., Biochemistry 29(1990), 4031) is postulated to proceed in 2 steps: Partitioning of the polypeptide into the membrane followed by diffusion until native contacts are formed. Herein we investigate conformational preferences of fragments of the yeast Ste2p receptor using NMR. Constructs comprising the first, the first two and the first three transmembrane (TM) segments, as well as a construct comprising TM1-TM2 covalently linked to TM7 were examined. We observed that the isolated TM1 does not form a stable helix nor does it integrate well into the micelle. TM1 is significantly stabilized upon interaction with TM2, forming a helical hairpin reported previously (Neumoin et al., Biophys. J. 96(2009), 3187), and in this case the protein integrates into the hydrophobic interior of the micelle. TM123 displays a strong tendency to oligomerize, but hydrogen exchange data reveal that the center of TM3 is solvent exposed. In all GPCRs so-far structurally characterized TM7 forms many contacts with TM1 and TM2. In our study TM127 integrates well into the hydrophobic environment, but TM7 does not stably pack against the remaining helices. Topology mapping in microsomal membranes also indicates that TM1 does not integrate in a membrane-spanning fashion, but that TM12, TM123 and TM127 adopt predominantly native-like topologies. The data from our study would be consistent with the retention of individual helices of incompletely synthesized GPCRs in the vicinity of the translocon until the complete receptor is released into the membrane interior
How to incorporate urban complexity, diversity and intelligence into smart cities initiatives

Under the term “Smart City”, numerous technology-based initiatives are emerging to help cities face contemporary challenges while the concept itself is evolving towards a more holistic approach. Nevertheless, the capability of smart initiatives to provide an integrated vision of our cities is still very limited. Eventually, many of these initiatives fail to understand the complexity, diversity and intelligence that characterize contemporary cities. The purpose of this paper is to display an urban functional system, capable of interpreting the city in a more holistic way and of facilitating effective involvement of local stakeholders in the planning process of SCs initiatives
Optimized performance map of an EAM for pulse generation and demultiplexing via FROG characterization

We demonstrate the complete characterization of a sinusoidally driven electro-absorption modulator (EAM) over a range of RF drive voltages and reverse bias conditions. An accurate performance map for the EAM, to be employed as a pulse generator and demultiplexer in an optical time division multiplexed (OTDM) system, can be realized by employing the Frequency Resolved Optical Gating technique. The generated pulses were characterized for chirp, extinction ratio (ER) and pulse width (<4 ps). The optimization of the EAM’s drive conditions is important to ensure that the generated pulses have the required spectral and temporal characteristics to be used in high-speed systems. The ER and pulse width also influence the demultiplexing performance of an EAM in an OTDM system. This is confirmed by utilizing the EAM as a demultiplexer in an 80 Gb/s OTDM system and measuring the BER as a function of the received optical power for various values of the ER and pulse width. It is of paramount importance to accurately characterize the performance of each individual EAM as the modulators characteristics are device dependant, thus optimum performance can be achieved with slight variations to the device’s drive conditions. By employing FROG, an optimum performance map of each specific device can be deduced. Simulations carried out verified the experimental results achieved
Stoichiometry control of sputtered CuCl thin films: Influence on ultraviolet emission properties

We demonstrate that the chemical composition of the sputtered CuCl thin films could be finely controlled by adjusting the bias to the substrate. The films deposited without any intentional bias were Cl rich (CuCl1+x), a bias of −22  V yielded stoichiometric CuCl, and a further increase in the negative bias resulted in Cl deficient films (CuCl1−x). The crystalline and optical properties were found to be associated with the chemical composition. Cl rich films showed a deep level green emission at around 515  nm in addition to ultraviolet (UV) excitonic emission. The stoichiometric films have higher optical quality, exhibiting a sharp UV emission at around 385  nm at room temperature, compared to nonstoichiometric samples. Visible luminescence related to deep level defects was not observed in the stoichiometric films. Changes in energy of the flux from the target and the subsequent ion bombardment on the substrate surface are correlated with the variations in chemical composition and their impact on the film microstructure and UV emission