Institution
Aix-Marseille University
Education•Marseille, France•
About: Aix-Marseille University is a education organization based out in Marseille, France. It is known for research contribution in the topics: Population & Galaxy. The organization has 24326 authors who have published 54240 publications receiving 1455416 citations. The organization is also known as: University Aix-Marseille & université d'Aix-Marseille.
Topics: Population, Galaxy, Large Hadron Collider, Redshift, Star formation
Papers published on a yearly basis
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Boston Children's Hospital1, University of Southern Denmark2, University of Tübingen3, University of Pavia4, University of Copenhagen5, French Institute of Health and Medical Research6, Lyon College7, HCL Technologies8, Aix-Marseille University9, University of Paris10, Paris Diderot University11, University of Hamburg12, Utrecht University13, Erasmus University Medical Center14, Mayo Clinic15, University of Genoa16, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico17, University of Michigan18, Université libre de Bruxelles19, University of Kiel20, Detmold21, Aarhus University Hospital22, University Hospital Heidelberg23, University of Tartu24, University of Colorado Denver25, Centre Hospitalier de Luxembourg26, Cairo University27, Ghent University Hospital28, Katholieke Universiteit Leuven29, University of Antwerp30, Leipzig University31, Children's Hospital of Philadelphia32
TL;DR: Clinical and experimental data suggest a correlation between age at disease onset, response to sodium channel blockers and the functional properties of mutations in children with SCN2A-related epilepsy, and suggest that mutations associated with early infantile epilepsy result in increased sodium channel activity with gain-of-function.
Abstract: Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71 patients and review 130 previously reported patients. We found that (i) encephalopathies with infantile/childhood onset epilepsies (≥3 months of age) occur almost as often as those with an early infantile onset (<3 months), and are thus more frequent than previously reported; (ii) distinct phenotypes can be seen within the late onset group, including myoclonic-atonic epilepsy (two patients), Lennox-Gastaut not emerging from West syndrome (two patients), and focal epilepsies with an electrical status epilepticus during slow sleep-like EEG pattern (six patients); and (iii) West syndrome constitutes a common phenotype with a major recurring mutation (p.Arg853Gln: two new and four previously reported children). Other known phenotypes include Ohtahara syndrome, epilepsy of infancy with migrating focal seizures, and intellectual disability or autism without epilepsy. To assess the response to antiepileptic therapy, we retrospectively reviewed the treatment regimen and the course of the epilepsy in 66 patients for which well-documented medical information was available. We find that the use of sodium channel blockers was often associated with clinically relevant seizure reduction or seizure freedom in children with early infantile epilepsies (<3 months), whereas other antiepileptic drugs were less effective. In contrast, sodium channel blockers were rarely effective in epilepsies with later onset (≥3 months) and sometimes induced seizure worsening. Regarding the genetic findings, truncating mutations were exclusively seen in patients with late onset epilepsies and lack of response to sodium channel blockers. Functional characterization of four selected missense mutations using whole cell patch-clamping in tsA201 cells—together with data from the literature—suggest that mutations associated with early infantile epilepsy result in increased sodium channel activity with gain-of-function, characterized by slowing of fast inactivation, acceleration of its recovery or increased persistent sodium current. Further, a good response to sodium channel blockers clinically was found to be associated with a relatively small gain-of-function. In contrast, mutations in patients with late-onset forms and an insufficient response to sodium channel blockers were associated with loss-of-function effects, including a depolarizing shift of voltage-dependent activation or a hyperpolarizing shift of channel availability (steady-state inactivation). Our clinical and experimental data suggest a correlation between age at disease onset, response to sodium channel blockers and the functional properties of mutations in children with SCN2A-related epilepsy.
377 citations
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TL;DR: The sequencing and assembly of the 32-gigabase-pair axolotl genome is reported using an approach that combined long-read sequencing, optical mapping and development of a new genome assembler (MARVEL).
Abstract: Salamanders serve as important tetrapod models for developmental, regeneration and evolutionary studies. An extensive molecular toolkit makes the Mexican axolotl (Ambystoma mexicanum) a key representative salamander for molecular investigations. Here we report the sequencing and assembly of the 32-gigabase-pair axolotl genome using an approach that combined long-read sequencing, optical mapping and development of a new genome assembler (MARVEL). We observed a size expansion of introns and intergenic regions, largely attributable to multiplication of long terminal repeat retroelements. We provide evidence that intron size in developmental genes is under constraint and that species-restricted genes may contribute to limb regeneration. The axolotl genome assembly does not contain the essential developmental gene Pax3. However, mutation of the axolotl Pax3 paralogue Pax7 resulted in an axolotl phenotype that was similar to those seen in Pax3-/- and Pax7-/- mutant mice. The axolotl genome provides a rich biological resource for developmental and evolutionary studies.
376 citations
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TL;DR: CIGALE as discussed by the authors is a tool for modeling the FUV to radio spectrum of galaxies and estimating their physical properties such as star formation rate, attenuation, dust luminosity, stellar mass, and many other physical quantities.
Abstract: Context. Measuring how the physical properties of galaxies change across cosmic times is essential to understand galaxy formation and evolution. With the advent of numerous ground-based and space-borne instruments launched over the past few decades we now have exquisite multi-wavelength observations of galaxies from the FUV to the radio domain. To tap into this mine of data and obtain new insight into the formation and evolution of galaxies, it is essential that we are able to extract information from their SED. Aims. We present a completely new implementation of CIGALE. Written in python, its main aims are to easily and efficiently model the FUV to radio spectrum of galaxies and estimate their physical properties such as star formation rate, attenuation, dust luminosity, stellar mass, and many other physical quantities. Methods. To compute the spectral models, CIGALE builds composite stellar populations from simple stellar populations combined with highly flexible star formation histories, calculates the emission from gas ionised by massive stars, and attenuates both the stars and the ionised gas with a highly flexible attenuation curve. Based on an energy balance principle, the absorbed energy is then re-emitted by the dust in the mid- and far-infrared domains while thermal and non-thermal components are also included, extending the spectrum far into the radio range. A large grid of models is then fitted to the data and the physical properties are estimated through the analysis of the likelihood distribution. Results. CIGALE is a versatile and easy-to-use tool that makes full use of the architecture of multi-core computers, building grids of millions of models and analysing samples of thousands of galaxies, both at high speed. Beyond fitting the SEDs of galaxies and parameter estimations, it can also be used as a model-generation tool or serve as a library to build new applications.
376 citations
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TL;DR: It is suggested that even partial sulfidation of AgNP will decrease the toxicity of AgNPs relative to their pristine counterparts, and the presence of chloride in the exposure media strongly affects the toxicity results by affecting Ag speciation.
Abstract: Nanomaterials are highly dynamic in biological and environmental media. A critical need for advancing environmental health and safety research for nanomaterials is to identify physical and chemical transformations that affect the nanomaterial properties and their toxicity. Silver nanoparticles, one of the most toxic and well-studied nanomaterials, readily react with sulfide to form Ag(0)/Ag2S core–shell particles. Here, we show that sulfidation decreased silver nanoparticle toxicity to four diverse types of aquatic and terrestrial eukaryotic organisms (Danio rerio (zebrafish), Fundulus heteroclitus (killifish), Caenorhabditis elegans (nematode worm), and the aquatic plant Lemna minuta (least duckweed)). Toxicity reduction, which was dramatic in killifish and duckweed even for low extents of sulfidation (about 2 mol % S), is primarily associated with a decrease in Ag+ concentration after sulfidation due to the lower solubility of Ag2S relative to elemental Ag (Ag0). These results suggest that even partial ...
376 citations
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University of Arizona1, Harvard University2, Duke University3, United States Department of Energy4, Stanford University5, Okayama University6, University of Wisconsin-Madison7, Oregon State University8, Broad Institute9, University of Provence10, Institut national de la recherche agronomique11, Aix-Marseille University12, University of Tennessee Health Science Center13, University of Maryland, College Park14, Purdue University15, University of Amsterdam16, Saint Louis University17, University of Kentucky18, University of Oregon19, Pennsylvania State University20, University of Georgia21
TL;DR: Although the origin(s) of the extra genes and the supernumerary chromosomes is not known, the gene expansion and its large genome size are consistent with this species' diverse range of habitats.
Abstract: The ascomycetous fungus Nectria haematococca, (asexual name Fusarium solani), is a member of a group of .50 species known as the ‘‘Fusarium solani species complex’’. Members of this complex have diverse biological properties including the ability to cause disease on .100 genera of plants and opportunistic infections in humans. The current research analyzed the most extensively studied member of this complex, N. haematococca mating population VI (MPVI). Several genes controlling the ability of individual isolates of this species to colonize specific habitats are located on supernumerary chromosomes. Optical mapping revealed that the sequenced isolate has 17 chromosomes ranging from 530 kb to 6.52 Mb and that the physical size of the genome, 54.43 Mb, and the number of predicted genes, 15,707, are among the largest reported for ascomycetes. Two classes of genes have contributed to gene expansion: specific genes that are not found in other fungi including its closest sequenced relative, Fusarium graminearum; and genes that commonly occur as single copies in other fungi but are present as multiple copies in N. haematococca MPVI. Some of these additional genes appear to have resulted from gene duplication events, while others may have been acquired through horizontal gene transfer. The supernumerary nature of three chromosomes, 14, 15, and 17, was confirmed by their absence in pulsed field gel electrophoresis experiments of some isolates and by demonstrating that these isolates lacked chromosome-specific sequences found on the ends of these chromosomes. These supernumerary chromosomes contain more repeat sequences, are enriched in unique and duplicated genes, and have a lower G+C content in comparison to the other chromosomes. Although the origin(s) of the extra genes and the supernumerary chromosomes is not known, the gene expansion and its large genome size are consistent with this species’ diverse range of habitats. Furthermore, the presence of unique genes on supernumerary chromosomes might account for individual isolates having different environmental niches.
376 citations
Authors
Showing all 24784 results
Name | H-index | Papers | Citations |
---|---|---|---|
Didier Raoult | 173 | 3267 | 153016 |
Andrea Bocci | 172 | 2402 | 176461 |
Marc Humbert | 149 | 1184 | 100577 |
Carlo Rovelli | 146 | 1502 | 103550 |
Marc Besancon | 143 | 1799 | 106869 |
Jian Yang | 142 | 1818 | 111166 |
Josh Moss | 139 | 1019 | 89255 |
Maksym Titov | 139 | 1573 | 128335 |
Bernard Henrissat | 139 | 593 | 100002 |
R. D. Kass | 138 | 1920 | 107907 |
Stylianos E. Antonarakis | 138 | 746 | 93605 |
Jean-Paul Kneib | 138 | 805 | 89287 |
Brad Abbott | 137 | 1566 | 98604 |
Shu Li | 136 | 1001 | 78390 |
Georges Aad | 135 | 1121 | 88811 |