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.
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TL;DR: In vitro wound healing assay revealed a significant delay in fibroblasts from two index individuals, pointing to a role for glycosaminoglycan defect in impaired wound repair in vivo, and a crucial role for β3GalT6 in multiple major developmental and pathophysiological processes.
Abstract: Proteoglycans are important components of cell plasma membranes and extracellular matrices of connective tissues. They consist of glycosaminoglycan chains attached to a core protein via a tetrasaccharide linkage, whereby the addition of the third residue is catalyzed by galactosyltransferase II (β3GalT6), encoded by B3GALT6. Homozygosity mapping and candidate gene sequence analysis in three independent families, presenting a severe autosomal-recessive connective tissue disorder characterized by skin fragility, delayed wound healing, joint hyperlaxity and contractures, muscle hypotonia, intellectual disability, and a spondyloepimetaphyseal dysplasia with bone fragility and severe kyphoscoliosis, identified biallelic B3GALT6 mutations, including homozygous missense mutations in family 1 (c.619G>C [p.Asp207His]) and family 3 (c.649G>A [p.Gly217Ser]) and compound heterozygous mutations in family 2 (c.323_344del [p.Ala108Glyfs(∗)163], c.619G>C [p.Asp207His]). The phenotype overlaps with several recessive Ehlers-Danlos variants and spondyloepimetaphyseal dysplasia with joint hyperlaxity. Affected individuals' fibroblasts exhibited a large decrease in ability to prime glycosaminoglycan synthesis together with impaired glycanation of the small chondroitin/dermatan sulfate proteoglycan decorin, confirming β3GalT6 loss of function. Dermal electron microcopy disclosed abnormalities in collagen fibril organization, in line with the important regulatory role of decorin in this process. A strong reduction in heparan sulfate level was also observed, indicating that β3GalT6 deficiency alters synthesis of both main types of glycosaminoglycans. In vitro wound healing assay revealed a significant delay in fibroblasts from two index individuals, pointing to a role for glycosaminoglycan defect in impaired wound repair in vivo. Our study emphasizes a crucial role for β3GalT6 in multiple major developmental and pathophysiological processes.
112 citations
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TL;DR: The ability of the 16S ribosomal DNA gene as an alternative metabarcoding marker for species level assessments was explored and variation in read abundances of two orders of magnitudes is still observed.
Abstract: Cytochrome c oxidase I (COI) is a powerful marker for DNA barcoding of animals, with good taxonomic resolution and a large reference database. However, when used for DNA metabarcoding, estimation of taxa abundances and species detection are limited due to primer bias caused by highly variable primer binding sites across the COI gene. Therefore, we explored the ability of the 16S ribosomal DNA gene as an alternative metabarcoding marker for species level assessments. Ten bulk samples, each containing equal amounts of tissue from 52 freshwater invertebrate taxa, were sequenced with the Illumina NextSeq 500 system. The 16S primers amplified three more insect species than the Folmer COI primers and amplified more equally, probably due to decreased primer bias. Estimation of biomass might be less biased with 16S than with COI, although variation in read abundances of two orders of magnitudes is still observed. According to these results, the marker choice depends on the scientific question. If the goal is to obtain a taxonomic identification at the species level, then COI is more appropriate due to established reference databases and known taxonomic resolution of this marker, knowing that a greater proportion of insects will be missed using COI Folmer primers. If the goal is to obtain a more comprehensive survey the 16S marker, which requires building a local reference database, or optimised degenerated COI primers could be more appropriate.
112 citations
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University of Lorraine1, University of Milan2, Center for Disease Dynamics, Economics & Policy3, Imperial College London4, The Ohio State University Wexner Medical Center5, Geneva College6, Federal University of Pernambuco7, University of Cape Town8, Ninewells Hospital9, The Aga Khan University Hospital10, Amrita Institute of Medical Sciences and Research Centre11, Centers for Disease Control and Prevention12, Mahidol University13, Royal Melbourne Hospital14, University of Antwerp15, Boston Children's Hospital16, Princeton University17
TL;DR: This consensus on core elements for hospital AMS programmes is relevant to both high- and low-to-middle-income countries and could facilitate the development of national AMS stewardship guidelines and adoption by healthcare settings worldwide.
111 citations
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Harvard University1, Novartis2, University of Melbourne3, University of Göttingen4, Charité5, University of Oslo6, Rabin Medical Center7, National Yang-Ming University8, National Institutes of Health9, University of Barcelona10, Robertson Centre for Biostatistics11, National and Kapodistrian University of Athens12, University of Cyprus13, University of Zurich14, National University of San Marcos15, Cardiovascular Institute of the South16, Katholieke Universiteit Leuven17, Copenhagen University Hospital18, Medical University of Łódź19, Karolinska University Hospital20, Montreal Heart Institute21, Semmelweis University22, University Hospital Centre Zagreb23, Seoul National University Hospital24, Nara Medical University25, Pontifícia Universidade Católica de Campinas26, Northwestern University27, University of Belgrade28, University of Arizona29, Carol Davila University of Medicine and Pharmacy30, Ljubljana University Medical Centre31, First Faculty of Medicine, Charles University in Prague32, Cumhuriyet University33, Tongji University34, University of Graz35, University of Minnesota36, Fudan University37, National University of Singapore38, Baylor University Medical Center39, Brigham and Women's Hospital40, Mayo Clinic41, University Medical Center Groningen42, University of Lorraine43, Medical University of South Carolina44, British Heart Foundation45
TL;DR: PARAGON-HF represents a contemporary group of patients with HFpEF with similar age and sex distribution compared with priorHFpEF trials but higher prevalence of comorbidities, and insights into the impact of inclusion criteria on, and regional variation in, HFp EF patient characteristics are provided.
Abstract: Background: To describe the baseline characteristics of patients with heart failure and preserved left ventricular ejection fraction enrolled in the PARAGON-HF trial (Prospective Comparison of Angi...
111 citations
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TL;DR: It is postulated that these rapidly evolving multigenic families could reflect the adaptation of these fungi to the diversity of their substrate and provide keys to understand their ecology.
Abstract: Fungal degradation of wood is mainly restricted to basidiomycetes, these organisms having developed complex oxidative and hydrolytic enzymatic systems. Besides these systems, wood-decaying fungi possess intracellular networks allowing them to deal with the myriad of potential toxic compounds resulting at least in part from wood degradation but also more generally from recalcitrant organic matter degradation. The members of the detoxification pathways constitute the xenome. Generally, they belong to multigenic families such as the cytochrome P450 monooxygenases and the glutathione transferases. Taking advantage of the recent release of numerous genomes of basidiomycetes, we show here that these multigenic families are extended and functionally related in wood-decaying fungi. Furthermore, we postulate that these rapidly evolving multigenic families could reflect the adaptation of these fungi to the diversity of their substrate and provide keys to understand their ecology. This is of particular importance for white biotechnology, this xenome being a putative target for improving degradation properties of these fungi in biomass valorization purposes.
111 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 |