Search results for "European research"
showing 10 items of 50 documents
Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: An international consensus statement
2018
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region can predict familial recurrence risks and the risk (and type) of embryonal tumour. Despite recent advances in knowledge, there is marked heterogeneity in clinical diagnostic criteria and care. As detailed in this Consensus Statement, an international consensus group agreed upon 72 recommendations for the clinical and molecular diagnosis and management …
Simultaneous Boron Ion‐Channel/Growth Factor Receptor Activation for Enhanced Vascularization
2018
[EN] Boron ion is essential in metabolism and its concentration is regulated by ion-channel NaBC1. NaBC1 mutations cause corneal dystrophies such as Harboyan syndrome. Here we propose a 3D molecular model for NaBC1 and show that simultaneous stimulation of NaBC1 and vascular growth factor receptors (VEGFR) promote angiogenesis in vitro and in vivo with ultra-low concentrations of VEGF. We show Human Umbilical Vein Endothelial Cells (HUVEC) organization into tubular structures indicative of vascularization potential. Enhanced cell sprouting was found only in the presence of VEGF and boron, effect abrogated after blocking NaBC1. We demonstrate that stimulated NaBC1 promotes angiogenesis via P…
Seafood Consumption, Omega-3 Fatty Acids Intake, and Life-Time Prevalence of Depression in the PREDIMED-Plus Trial.
2018
Background: The aim of this analysis was to ascertain the type of relationship between fish and seafood consumption, omega-3 polyunsaturated fatty acids (&omega
Assessing statistical significance in multivariable genome wide association analysis
2016
Motivation: Although Genome Wide Association Studies (GWAS) genotype a very large number of single nucleotide polymorphisms (SNPs), the data are often analyzed one SNP at a time. The low predictive power of single SNPs, coupled with the high significance threshold needed to correct for multiple testing, greatly decreases the power of GWAS. Results: We propose a procedure in which all the SNPs are analyzed in a multiple generalized linear model, and we show its use for extremely high-dimensional datasets. Our method yields P-values for assessing significance of single SNPs or groups of SNPs while controlling for all other SNPs and the family wise error rate (FWER). Thus, our method tests whe…
Blue Optical Observations of Narrow Bipolar Events by ASIM Suggest Corona Streamer Activity in Thunderstorms
2020
While narrow bipolar events (NBEs) could be related with lightning initiation, their intrinsic physics remains in question. Here we report on optical measurements by the Atmosphere-Space Interactions Monitor (ASIM) on the International Space Station (ISS) of blue flashes associated with NBEs. They are observed in a narrow blue band centered at 337 nm, with no simultaneous activity at 777.4 nm, considered a strong lightning emission line. From radio waves measured from the ground, we find that 7 of 10 single-pulse blue events can be identified as positive NBEs. The source altitudes estimated from optical and radio signals agree and indicate that the sources of the blue flashes are located be…
Bibliometric analysis of European publications between 2001 and 2016 on concentrations of selected elements in mushrooms.
2020
This article presents a bibliometric study of 200 European publications released between 2001 and 2016, about the contamination of mushrooms by selected elements. The analysis includes figures on the type of analyte, its concentration, the species of fungi, and its country of origin. In the literature review, 492 species of mushrooms (wild-growing and cultured) found in 26 European countries and their concentration of 74 associated elements were analysed. The papers, which dealt mainly with the heavy metal (Cd, Cu, Fe, Pb, and Zn) concentrations of mushrooms, primarily came from Turkey, Poland, Spain, and the Czech Republic. More than 50% of the publications provided data about edible mushr…
Effects of seniority, gender and geography on the bibliometric output and collaboration networks of European Research Council (ERC) grant recipients.
2019
Assessing the success and performance of researchers is a difficult task, as their grant output is influenced by a series of factors, including seniority, gender and geographical location of their host institution. In order to assess the effects of these factors, we analysed the publication and citation outputs, using Scopus and Web of Science, and the collaboration networks of European Research Council (ERC) starting (junior) and advanced (senior) grantees. For this study, we used a cohort of 355 grantees from the Life Sciences domain of years 2007-09. While senior grantees had overall greater publication output, junior grantees had a significantly greater pre-post grant award increase in …
Pre-conceptual design of EU DEMO balance of plant systems: Objectives and challenges
2021
Abstract The European Research Roadmap to the Realisation of Fusion Energy foresees that the DEMO reactor is going to succeed ITER in the pathway towards the exploitation of nuclear fusion, achieving long plasma operation time, demonstrating tritium self-sufficiency and producing net electric output on an industrial scale. Therefore, its design must be more oriented towards the Balance of Plant (BoP) than it is in ITER. Since the early pre-conceptual phase of the DEMO project, emphasis has been laid on identifying the main requirements affecting the overall architecture of the BoP. For instance, specific efforts and proper solutions have been envisaged to cope with the pulsed nature of the …
Using Y-chromosome capture enrichment to resolve haplogroup H2 shows new evidence for a two-path Neolithic expansion to Western Europe
2021
Uniparentally-inherited markers on mitochondrial DNA (mtDNA) and the non-recombining regions of the Y chromosome (NRY), have been used for the past 30 years to investigate the history of humans from a maternal and paternal perspective. Researchers have preferred mtDNA due to its abundance in the cells, and comparatively high substitution rate. Conversely, the NRY is less susceptible to back mutations and saturation, and is potentially more informative than mtDNA owing to its longer sequence length. However, due to comparatively poor NRY coverage via shotgun sequencing, and the relatively low and biased representation of Y-chromosome variants on capture assays such as the 1240 k, ancient DNA…
How Circular Dichroism in Time- and Angle-Resolved Photoemission Can Be Used to Spectroscopically Detect Transient Topological States in Graphene
2020
Pumping graphene with circularly polarized light is the archetype of light-tailoring topological bands. Realizing the induced Floquet-Chern-insulator state and demonstrating clear experimental evidence for its topological nature has been a challenge, and it has become clear that scattering effects play a crucial role. We tackle this gap between theory and experiment by employing microscopic quantum kinetic calculations including realistic electron-electron and electron-phonon scattering. Our theory provides a direct link to the build up of the Floquet-Chern-insulator state in light-driven graphene and its detection in time- and angle-resolved photoemission spectroscopy (ARPES). This approac…