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https://www.readbyqxmd.com/read/27916992/gene-editing-for-duchenne-muscular-dystrophy-using-the-crispr-cas9-technology-the-importance-of-fine-tuning-the-approach
#1
Jacques P Tremblay, Jean-Paul Iyombe-Engembe, Benjamin Duchêne, Dominique L Ouellet
No abstract text is available yet for this article.
November 2016: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/27899576/the-nuclear-and-organellar-trna-derived-rna-fragment-population-in-arabidopsis-thaliana-is-highly-dynamic
#2
Valérie Cognat, Geoffrey Morelle, Cyrille Megel, Stéphanie Lalande, Jean Molinier, Timothée Vincent, Ian Small, Anne-Marie Duchêne, Laurence Maréchal-Drouard
In the expanding repertoire of small noncoding RNAs (ncRNAs), tRNA-derived RNA fragments (tRFs) have been identified in all domains of life. Their existence in plants has been already proven but no detailed analysis has been performed. Here, short tRFs of 19-26 nucleotides were retrieved from Arabidopsis thaliana small RNA libraries obtained from various tissues, plants submitted to abiotic stress or fractions immunoprecipitated with ARGONAUTE 1 (AGO1). Large differences in the tRF populations of each extract were observed...
November 28, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27886240/identification-of-er-000444793-a-cyclophilin-d-independent-inhibitor-of-mitochondrial-permeability-transition-using-a-high-throughput-screen-in-cryopreserved-mitochondria
#3
Thomas Briston, Sian Lewis, Mumta Koglin, Kavita Mistry, Yongchun Shen, Naomi Hartopp, Ryosuke Katsumata, Hironori Fukumoto, Michael R Duchen, Gyorgy Szabadkai, James M Staddon, Malcolm Roberts, Ben Powney
Growing evidence suggests persistent mitochondrial permeability transition pore (mPTP) opening is a key pathophysiological event in cell death underlying a variety of diseases. While it has long been clear the mPTP is a druggable target, current agents are limited by off-target effects and low therapeutic efficacy. Therefore identification and development of novel inhibitors is necessary. To rapidly screen large compound libraries for novel mPTP modulators, a method was exploited to cryopreserve large batches of functionally active mitochondria from cells and tissues...
November 25, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27870550/clinical-and-immunological-characteristics-of-autoimmune-addison-s-disease-a-nationwide-swedish-multicenter-study
#4
Frida Dalin, Gabriel Nordling Eriksson, Per Dahlqvist, Åsa Hallgren, Jeanette Wahlberg, Olov Ekwall, Stefan Söderberg, Johan Rönnelid, Per Olcén, Ola Winqvist, Sergiu-Bogdan Catrina, Berit Kriström, Maria Laudius, Magnus Isaksson, Maria Halldin Stenlid, Jan Gustafsson, Gennet Gebre-Medhin, Sigridur Björnsdottir, Annika Janson, Anna-Karin Åkerman, Jan Åman, Karel Duchen, Ragnhildur Bergthorsdottir, Gudmundur Johannsson, Emma Lindskog, Mona Landin-Olsson, Maria Elfving, Erik Waldenström, Anna-Lena Hulting, Olle Kämpe, Sophie Bensing
CONTEXT: Studies on clinical and immunological features of Autoimmune Addison's disease (AAD) are needed to understand the disease burden and increased mortality. OBJECTIVE: To provide upgraded data on autoimmune comorbidities, replacement therapy, autoantibody profiles and cardiovascular risk factors. DESIGN, SETTING AND PARTICIPANTS: Cross sectional, population-based study. 660 AAD patients were included utilizing the Swedish Addison Registry (SAR) 2008-2014...
November 21, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27869598/highly-divergent-dengue-virus-type-2-in-traveler-returning-from-borneo-to-australia
#5
Wenjun Liu, Paul Pickering, Sebastián Duchêne, Edward C Holmes, John G Aaskov
Dengue virus type 2 was isolated from a tourist who returned from Borneo to Australia. Phylogenetic analysis identified this virus as highly divergent and occupying a basal phylogenetic position relative to all known human and sylvatic dengue virus type 2 strains and the most divergent lineage not assigned to a new serotype.
December 2016: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/27863683/thirty-years-with-cyclodextrins
#6
Dominique Duchêne, Amélie Bochot
This paper reviews the work carried out on cyclodextrins during some thirty years at the Institut Galien Paris-Sud, UMR CNRS 8612, Université Paris-Sud. It represents the normal evolution of this domain of science and the numerous possibilities of cyclodextrins for being a tool adaptable to the most complex situations. The works which have been carried out concern: the investigation of general characteristics of cyclodextrins and derivatives, the preparation and evaluation of inclusion complexes, the use of cyclodextrins in the preparation of drug delivery systems, the various possibilities offered by cyclodextrins and their derivatives for nanoparticle preparation and finally the use of cyclodextrins for the preparation of biomaterials is evoked...
November 30, 2016: International Journal of Pharmaceutics
https://www.readbyqxmd.com/read/27854217/prevalence-and-genetic-profile-of-duchene-and-becker-muscular-dystrophy-in-puerto-rico
#7
Edwardo Ramos, José G Conde, Rafael Arias Berrios, Sherly Pardo, Omar Gómez, Manuel F Mas Rodríguez
BACKGROUND: Duchenne and Becker Muscular Dystrophy (DMD and BMD, respectively), are common forms of inherited muscle disease. Information regarding the epidemiology of these conditions, including genotype, is still sparse. OBJECTIVE: To establish the prevalence and genetic profile of DMD and BMD in Puerto Rico. METHODS: We collected data from medical records in all Muscular Dystrophy Association (MDA) clinics in Puerto Rico in order to estimate the prevalence of DMD and BMD and to describe the genotypic profile of these patients...
May 27, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27811056/cxcr4-identifies-transitional-bone-marrow-premonocytes-that-replenish-the-mature-monocyte-pool-for-peripheral-responses
#8
Shu Zhen Chong, Maximilien Evrard, Sapna Devi, Jinmiao Chen, Jyue Yuan Lim, Peter See, Yiru Zhang, José M Adrover, Bernett Lee, Leonard Tan, Jackson L Y Li, Ka Hang Liong, Cindy Phua, Akhila Balachander, Adrian Boey, David Liebl, Suet Mien Tan, Jerry K Y Chan, Karl Balabanian, John E Harris, Mariaelvy Bianchini, Christian Weber, Johan Duchene, Josephine Lum, Michael Poidinger, Qingfeng Chen, Laurent Rénia, Cheng-I Wang, Anis Larbi, Gwendalyn J Randolph, Wolfgang Weninger, Mark R Looney, Matthew F Krummel, Subhra K Biswas, Florent Ginhoux, Andrés Hidalgo, Françoise Bachelerie, Lai Guan Ng
It is well established that Ly6C(hi) monocytes develop from common monocyte progenitors (cMoPs) and reside in the bone marrow (BM) until they are mobilized into the circulation. In our study, we found that BM Ly6C(hi) monocytes are not a homogenous population, as current data would suggest. Using computational analysis approaches to interpret multidimensional datasets, we demonstrate that BM Ly6C(hi) monocytes consist of two distinct subpopulations (CXCR4(hi) and CXCR4(lo) subpopulations) in both mice and humans...
October 17, 2016: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/27798264/nad-repletion-improves-muscle-function-in-muscular-dystrophy-and-counters-global-parylation
#9
Dongryeol Ryu, Hongbo Zhang, Eduardo R Ropelle, Vincenzo Sorrentino, Davi A G Mázala, Laurent Mouchiroud, Philip L Marshall, Matthew D Campbell, Amir Safi Ali, Gary M Knowels, Stéphanie Bellemin, Shama R Iyer, Xu Wang, Karim Gariani, Anthony A Sauve, Carles Cantó, Kevin E Conley, Ludivine Walter, Richard M Lovering, Eva R Chin, Bernard J Jasmin, David J Marcinek, Keir J Menzies, Johan Auwerx
Neuromuscular diseases are often caused by inherited mutations that lead to progressive skeletal muscle weakness and degeneration. In diverse populations of normal healthy mice, we observed correlations between the abundance of mRNA transcripts related to mitochondrial biogenesis, the dystrophin-sarcoglycan complex, and nicotinamide adenine dinucleotide (NAD(+)) synthesis, consistent with a potential role for the essential cofactor NAD(+) in protecting muscle from metabolic and structural degeneration. Furthermore, the skeletal muscle transcriptomes of patients with Duchene's muscular dystrophy (DMD) and other muscle diseases were enriched for various poly[adenosine 5'-diphosphate (ADP)-ribose] polymerases (PARPs) and for nicotinamide N-methyltransferase (NNMT), enzymes that are major consumers of NAD(+) and are involved in pleiotropic events, including inflammation...
October 19, 2016: Science Translational Medicine
https://www.readbyqxmd.com/read/27640799/-comparison-analysis-of-muscle-enzymes-in-children-with-myocarditis-and-duchene-becker-muscular-dystrophy
#10
Yali Zhang, Hong Wang, Xuexin Yu, Yanlin Xing, Ce Wang, Rong He
OBJECTIVE: To compare the changes in muscle enzyme between children with myocarditis and Duchene/Becker muscular dystrophy (DMD/BMD), and to seek the explanations for variation.
 METHODS: The retrospective analysis for 83 myocarditis children (myocarditis group) and 69 DMD/BMD children (DMD/BMD group), who were collected from Department of Pediatric of Shengjing Hospital affiliated to China Medical University since January 2008 to May 2015, was carried out. At the same time, 24 healthy children from the Department of Pediatric Development served as a control group...
September 28, 2016: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://www.readbyqxmd.com/read/27624721/mitochondrial-dysfunction-is-an-important-cause-of-neurological-deficits-in-an-inflammatory-model-of-multiple-sclerosis
#11
Mona Sadeghian, Vincenzo Mastrolia, Ali Rezaei Haddad, Angelina Mosley, Gizem Mullali, Dimitra Schiza, Marija Sajic, Iain Hargreaves, Simon Heales, Michael R Duchen, Kenneth J Smith
Neuroinflammation can cause major neurological dysfunction, without demyelination, in both multiple sclerosis (MS) and a mouse model of the disease (experimental autoimmune encephalomyelitis; EAE), but the mechanisms remain obscure. Confocal in vivo imaging of the mouse EAE spinal cord reveals that impaired neurological function correlates with the depolarisation of both the axonal mitochondria and the axons themselves. Indeed, the depolarisation parallels the expression of neurological deficit at the onset of disease, and during relapse, improving during remission in conjunction with the deficit...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27604881/the-genome-as-an-evolutionary-timepiece
#12
Simon Y W Ho, Amanda X Y Chen, Luana S F Lins, David A Duchêne, Nathan Lo
The molecular clock is a valuable and widely used tool for estimating evolutionary rates and timescales in biological research. There has been considerable progress in the theory and practice of molecular clocks over the past five decades. Although the idea of a molecular clock was originally put forward in the context of protein evolution and advanced using various biochemical techniques, it is now primarily applied to analyses of DNA sequences. An interesting but very underappreciated aspect of molecular clocks is that they can be based on genetic data other than DNA or protein sequences...
October 5, 2016: Genome Biology and Evolution
https://www.readbyqxmd.com/read/27595391/-malignant-rhabdoid-tumor-of-the-lung
#13
M Zysman, C Clement-Duchene, C Bastien, P Vaillant, Y Martinet
INTRODUCTION: Rhabdoid tumours usually develop in brain and spinal cord or kidney; they are highly malignant neoplasms that typically arise in infancy and early childhood. However, rare cases of pulmonary localization have been described, particularly among young adults. CASE REPORT: A 26-year-old man, smoker, had a right apical lung mass associated with a Pancoast syndrome leading to haemoptysis. There was also a tumour of the left thigh and scalp. Histological samples taken at these three locations were in favour of an undifferentiated carcinoma...
August 29, 2016: Revue des Maladies Respiratoires
https://www.readbyqxmd.com/read/27579443/inferior-vena-cava-filter-erosion-causing-symptomatic-obstructive-hydronephrosis
#14
Nathan Locke, David Duchene, Priya Padmanabhan
BACKGROUND: Transcaval inferior vena cava (IVC) filter penetration involving the urinary tract is rare, but has been previously reported. We herein present unique management of symptomatic hydronephrosis secondary to erosion of an IVC filter limb into the lumen of the proximal right ureter. CASE PRESENTATION: A 59-year-old woman presented with abdominal and right flank pain in October 2015 and was found to have right hydronephrosis, apparently secondary to obstruction from erosion of an IVC filter limb into the proximal right ureter...
2016: Journal of Endourology Case Reports
https://www.readbyqxmd.com/read/27576369/regulation-of-monocyte-cell-fate-by-blood-vessels-mediated-by-notch-signalling
#15
Jaba Gamrekelashvili, Roberto Giagnorio, Jasmin Jussofie, Oliver Soehnlein, Johan Duchene, Carlos G Briseño, Saravana K Ramasamy, Kashyap Krishnasamy, Anne Limbourg, Tamar Kapanadze, Chieko Ishifune, Rabea Hinkel, Freddy Radtke, Lothar J Strobl, Ursula Zimber-Strobl, L Christian Napp, Johann Bauersachs, Hermann Haller, Koji Yasutomo, Christian Kupatt, Kenneth M Murphy, Ralf H Adams, Christian Weber, Florian P Limbourg
A population of monocytes, known as Ly6C(lo) monocytes, patrol blood vessels by crawling along the vascular endothelium. Here we show that endothelial cells control their origin through Notch signalling. Using combinations of conditional genetic deletion strategies and cell-fate tracking experiments we show that Notch2 regulates conversion of Ly6C(hi) monocytes into Ly6C(lo) monocytes in vivo and in vitro, thereby regulating monocyte cell fate under steady-state conditions. This process is controlled by Notch ligand delta-like 1 (Dll1) expressed by a population of endothelial cells that constitute distinct vascular niches in the bone marrow and spleen in vivo, while culture on recombinant DLL1 induces monocyte conversion in vitro...
2016: Nature Communications
https://www.readbyqxmd.com/read/27560385/a-grapevine-cytochrome-p450-generates-the-precursor-of-wine-lactone-a-key-odorant-in-wine
#16
Tina Ilc, David Halter, Laurence Miesch, Florian Lauvoisard, Lucie Kriegshauser, Andrea Ilg, Raymonde Baltenweck, Philippe Hugueney, Danièle Werck-Reichhart, Eric Duchêne, Nicolas Navrot
Monoterpenes are important constituents of the aromas of food and beverages, including wine. Among monoterpenes in wines, wine lactone has the most potent odor. It was proposed to form via acid-catalyzed cyclization of (E)-8-carboxylinalool during wine maturation. It only reaches very low concentrations in wine but its extremely low odor detection threshold makes it an important aroma compound. Using LC-MS/MS, we show here that the (E)-8-carboxylinalool content in wines correlates with their wine lactone content and estimate the kinetic constant for the very slow formation of wine lactone from (E)-8-carboxylinalool...
August 25, 2016: New Phytologist
https://www.readbyqxmd.com/read/27519271/investigating-mitochondrial-redox-state-using-nadh-and-nadph-autofluorescence
#17
Thomas S Blacker, Michael R Duchen
The redox states of the NAD and NADP pyridine nucleotide pools play critical roles in defining the activity of energy producing pathways, in driving oxidative stress and in maintaining antioxidant defences. Broadly speaking, NAD is primarily engaged in regulating energy-producing catabolic processes, whilst NADP may be involved in both antioxidant defence and free radical generation. Defects in the balance of these pathways are associated with numerous diseases, from diabetes and neurodegenerative disease to heart disease and cancer...
August 9, 2016: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/27512059/benign-rabbit-caliciviruses-exhibit-evolutionary-dynamics-similar-to-those-of-their-virulent-relatives
#18
Jackie E Mahar, Leila Nicholson, John-Sebastian Eden, Sebastián Duchêne, Peter J Kerr, Janine Duckworth, Vernon K Ward, Edward C Holmes, Tanja Strive
UNLABELLED: Two closely related caliciviruses cocirculate in Australia: rabbit hemorrhagic disease virus (RHDV) and rabbit calicivirus Australia 1 (RCV-A1). RCV-A1 causes benign enteric infections in the European rabbit (Oryctolagus cuniculus) in Australia and New Zealand, while its close relative RHDV causes a highly pathogenic infection of the liver in the same host. The comparison of these viruses provides important information on the nature and trajectory of virulence evolution, particularly as highly virulent strains of RHDV may have evolved from nonpathogenic ancestors such as RCV-A1...
October 15, 2016: Journal of Virology
https://www.readbyqxmd.com/read/27502830/introduction-to-special-issue-on-mitochondrial-redox-signaling-in-health-and-disease
#19
Juan P Bolaños, Enrique Cadenas, Michael R Duchen, Mark B Hampton, Giovanni E Mann, Michael P Murphy
No abstract text is available yet for this article.
August 5, 2016: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/27469265/dose-rate-dependent-damage-of-cerium-dioxide-in-the-scanning-transmission-electron-microscope
#20
Aaron C Johnston-Peck, Joseph S DuChene, Alan D Roberts, Wei David Wei, Andrew A Herzing
Beam damage caused by energetic electrons in the transmission electron microscope is a fundamental constraint limiting the collection of artifact-free information. Through understanding the influence of the electron beam, experimental routines may be adjusted to improve the data collection process. Investigations of CeO2 indicate that there is not a critical dose required for the accumulation of electron beam damage. Instead, measurements using annular dark field scanning transmission electron microscopy and electron energy loss spectroscopy demonstrate that the onset of measurable damage occurs when a critical dose rate is exceeded...
November 2016: Ultramicroscopy
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