Institution
University of Lorraine
Education•Nancy, France•
About: University of Lorraine is a education organization based out in Nancy, France. It is known for research contribution in the topics: Population & Nonlinear system. The organization has 11942 authors who have published 25010 publications receiving 425227 citations. The organization is also known as: Lorraine University.
Papers published on a yearly basis
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TL;DR: Five individuals with coloboma, microcephaly, developmental delay, short stature, and craniofacial, cardiac, and renal defects who harbor overlapping microdeletions on 8q24.3 are reported on to demonstrate how CNVs can exhibit complex genetic architecture.
Abstract: Copy-number variants (CNVs) represent a significant interpretative challenge, given that each CNV typically affects the dosage of multiple genes. Here we report on five individuals with coloboma, microcephaly, developmental delay, short stature, and craniofacial, cardiac, and renal defects who harbor overlapping microdeletions on 8q24.3. Fine mapping localized a commonly deleted 78 kb region that contains three genes: SCRIB, NRBP2, and PUF60. In vivo dissection of the CNV showed discrete contributions of the planar cell polarity effector SCRIB and the splicing factor PUF60 to the syndromic phenotype, and the combinatorial suppression of both genes exacerbated some, but not all, phenotypic components. Consistent with these findings, we identified an individual with microcephaly, short stature, intellectual disability, and heart defects with a de novo c.505C>T variant leading to a p.His169Tyr change in PUF60. Functional testing of this allele in vivo and in vitro showed that the mutation perturbs the relative dosage of two PUF60 isoforms and, subsequently, the splicing efficiency of downstream PUF60 targets. These data inform the functions of two genes not associated previously with human genetic disease and demonstrate how CNVs can exhibit complex genetic architecture, with the phenotype being the amalgam of both discrete dosage dysfunction of single transcripts and also of binary genetic interactions.
80 citations
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Iran University of Medical Sciences1, University of Washington2, Norwegian Institute of Public Health3, University of Bergen4, Japan International Cooperation Agency5, Aswan University6, Lund University7, University of Sydney8, University of Melbourne9, University of Toronto10, University of Oxford11, Jordan University of Science and Technology12, Charité13, King Saud University14, Taipei Medical University15, Public Health Agency of Canada16, Pontifical Xavierian University17, Charles R. Drew University of Medicine and Science18, University of California, Los Angeles19, University of São Paulo20, Monash University21, Walden University22, University of Peradeniya23, University of Lorraine24, Harvard University25, Karolinska Institutet26, Tehran University of Medical Sciences27, Bielefeld University28, West Virginia University29, Arabian Gulf University30, Hamdan bin Mohammed e-University31, Secretariat of the Pacific Community32, Tunis University33, Birzeit University34, University of Aberdeen35, Heidelberg University36, Health Services Academy37, Ball State University38, University of British Columbia39, National Health Service40, University of Liverpool41, Mansoura University42, Imperial College London43, McGill University44, Howard University45, Thomas Jefferson University46, Alfaisal University47, Ahmadu Bello University48, International Centre for Diarrhoeal Disease Research, Bangladesh49, American University of Beirut50, Kyung Hee University51, Kosin University52, National Institutes of Health53, Finnish Institute of Occupational Health54, Northumbria University55, University of Edinburgh56, Universidade Federal de Santa Catarina57, University of Alabama at Birmingham58, Stavanger University Hospital59, Cleveland Clinic60, University of Virginia61, Kyoto University62, Korea University63, Jackson State University64
TL;DR: This study shows a high burden of musculoskeletal disorders, with a faster increase in EMR compared with the rest of the world, and calls for incorporating prevention and control programmes that should include improving health data, addressing risk factors, providing evidence-based care and community programmes to increase awareness.
Abstract: Objectives We used findings from the Global Burden of Disease Study 2013 to report the burden of musculoskeletal disorders in the Eastern Mediterranean Region (EMR). Methods The burden of musculoskeletal disorders was calculated for the EMR's 22 countries between 1990 and 2013. A systematic analysis was performed on mortality and morbidity data to estimate prevalence, death, years of live lost, years lived with disability and disability-adjusted life years (DALYs). Results For musculoskeletal disorders, the crude DALYs rate per 100 000 increased from 1297.1 (95% uncertainty interval (UI) 924.3-1703.4) in 1990 to 1606.0 (95% UI 1141.2-2130.4) in 2013. During 1990-2013, the total DALYs of musculoskeletal disorders increased by 105.2% in the EMR compared with a 58.0% increase in the rest of the world. The burden of musculoskeletal disorders as a proportion of total DALYs increased from 2.4% (95% UI 1.7-3.0) in 1990 to 4.7% (95% UI 3.6-5.8) in 2013. The range of point prevalence (per 1000) among the EMR countries was 28.2-136.0 for low back pain, 27.3-49.7 for neck pain, 9.7-37.3 for osteoarthritis (OA), 0.6-2.2 for rheumatoid arthritis and 0.1-0.8 for gout. Low back pain and neck pain had the highest burden in EMR countries. Conclusions This study shows a high burden of musculoskeletal disorders, with a faster increase in EMR compared with the rest of the world. The reasons for this faster increase need to be explored. Our findings call for incorporating prevention and control programmes that should include improving health data, addressing risk factors, providing evidence-based care and community programmes to increase awareness.
80 citations
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TL;DR: An overview of wood formation processes up to tree-ring development, bearing in mind that the combined action of intrinsic factors and environmental drivers determines the anatomical traits of a tree ring formed at a specific time and position within the tree’s architecture is provided.
Abstract: It is noteworthy that the largest part of global vegetation biomass depends on a thin layer of cells: the vascular cambium. Understanding the wood formation processes and relationships with environmental factors is a crucial and timely research question requiring interdisciplinary efforts, also to upscale the information gained and to evaluate implications for tree growth and forest productivity. We provide an overview of wood formation processes up to tree-ring development, bearing in mind that the combined action of intrinsic factors and environmental drivers determines the anatomical traits of a tree ring formed at a specific time and position within the tree’s architecture. After briefly reviewing intrinsic factors, we focus attention on environmental drivers highlighting how a correct interpretation of environmental signals in tree rings must be grounded in a deep knowledge of xylogenesis and consequent wood anatomical traits. We provide guidelines on novel methods and approaches recently developed to study xylem formation. We refer to existing literature on established techniques for retrospective analyses in tree-ring series of anatomical and isotopic traits, to assess long-term ecophysiological responses to environmental variations, also giving advice on possible bias because of interand within-tree variability. Finally, we highlight that, once the temporal axis of intra-annual tree-ring variability of xylem traits is established by xylogenesis analysis, a multidisciplinary approach linking classical dendro-ecology, wood functional traits (dendro-anatomy) and eco-physiology (here focusing on dendro-isotopes) allows a better interpretation of past environmental events hidden in tree rings, and more reliable forecasts of wood growth in response to climate change.
80 citations
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TL;DR: In this article, heat conduction of nanoporous silicon and germanium thin films is studied thanks to a statistical approach and the resolution of phonon Boltzmann transport equation is performed with a Monte Carlo technique in order to assess thermal conductivity.
Abstract: Heat conduction of nanoporous silicon and germanium thin films is studied thanks to a statistical approach. Resolution of phonon Boltzmann transport equation is performed with a Monte Carlo technique in order to assess thermal conductivity. Sensitivity of this latter property with respect to parameters such as phonon mean free path and characteristics of the pores ( distribution, size, porosity) is discussed and compared to predictions from analytical models. Results point out that thermal properties might be tailored through the design of the porosity and more specifically by the adjustment of the phonon-pore mean free path. Finally, an effective medium technique is used to extend our work to multilayered crystalline-nanoporous structures. Results show that ought to pore scattering, a diffusive Fourier regime can be recovered even when the film thickness is below the bulk limit.
80 citations
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TL;DR: The aim of this second paper, which follows, is to present the various pseudospectral schemes available in GPELab for computing the deterministic and stochastic nonlinear dynamics of Gross–Pitaevskii equations.
80 citations
Authors
Showing all 12161 results
Name | H-index | Papers | Citations |
---|---|---|---|
Jonathan I. Epstein | 138 | 1121 | 80975 |
Peter Tugwell | 129 | 948 | 125480 |
David Brown | 105 | 1257 | 46827 |
Faiez Zannad | 103 | 839 | 90737 |
Sabu Thomas | 102 | 1554 | 51366 |
Francis Martin | 98 | 733 | 43991 |
João F. Mano | 97 | 822 | 36401 |
Jonathan A. Epstein | 94 | 299 | 27492 |
Muhammad Imran | 94 | 3053 | 51728 |
Laurent Peyrin-Biroulet | 90 | 901 | 34120 |
Athanase Benetos | 83 | 391 | 31718 |
Michel Marre | 82 | 444 | 39052 |
Bruno Rossion | 80 | 337 | 21902 |
Lyn March | 78 | 367 | 62536 |
Alan J. M. Baker | 76 | 234 | 26080 |