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Vincent Le Coz, Chaobin Zhu, Aurore Devocelle, Aimé Vazquez, Claude Boucheix, Sandy Azzi, Cindy Gallerne, Pierre Eid, Séverine Lecourt, Julien Giron-Michel
Melanoma is a particularly virulent human cancer, due to its resistance to conventional treatments and high frequency of metastasis. Melanomas contain a fraction of cells, the melanoma-initiating cells (MICs), responsible for tumor propagation and relapse. Identification of the molecular pathways supporting MICs is, therefore, vital for the development of targeted treatments. One factor produced by melanoma cells and their microenvironment, insulin-like growth factor-1 (IGF- 1), is linked to epithelial-mesenchymal transition (EMT) and stemness features in several cancers...
October 18, 2016: Oncotarget
Salima El Chehadeh, Renaud Touraine, Fabienne Prieur, Willie Reardon, Thierry Bienvenu, Sandrine Chantot-Bastaraud, Martine Doco-Fenzy, Emilie Landais, Christophe Philippe, Nathalie Marle, Patrick Callier, Anne-Laure Mosca-Boidron, Francine Mugneret, Nathalie Le Meur, Alice Goldenberg, Anne-Marie Guerrot, Pascal Chambon, Véronique Satre, Charles Coutton, Pierre-Simon Jouk, Françoise Devillard, Klaus Dieterich, Alexandra Afenjar, Lydie Burglen, Marie-Laure Moutard, Marie-Claude Addor, Sébastien Lebon, Danielle Martinet, Jean-Luc Alessandri, Bérénice Doray, Marguerite Miguet, Didier Devys, Pascale Saugier-Veber, Séverine Drunat, Bernard Aral, Valérie Kremer, Stéphane Rondeau, Anne-Claude Tabet, Julien Thevenon, Christel Thauvin-Robinet, Nathalie Perreton, Vincent Des Portes, Laurence Faivre
Duplication of the Xq28 region, involving MECP2 (dupMECP2), has been primarily described in males with severe developmental delay, spasticity, epilepsy, stereotyped movements and recurrent infections. Carrier mothers are usually asymptomatic with an extremely skewed X chromosome inactivation (XCI) pattern. We report a series of six novel symptomatic females carrying a de novo interstitial dupMECP2, and review the 14 symptomatic females reported to date, with the aim to further delineate their phenotype and give clues for genetic counselling...
October 19, 2016: Clinical Genetics
Séverine Fourdrilis, Patrick Mardulyn, Olivier J Hardy, Kurt Jordaens, António Manuel de Frias Martins, Thierry Backeljau
We report the presence of mitochondrial DNA (mtDNA) hyperdiversity in the marine periwinkle Melarhaphe neritoides (Linnaeus, 1758), the first such case among marine gastropods. Our dataset consisted of concatenated 16S-COI-Cytb gene fragments. We used Bayesian analyses to investigate three putative causes underlying genetic variation, and estimated the mtDNA mutation rate, possible signatures of selection and the effective population size of the species in the Azores archipelago. The mtDNA hyperdiversity in M...
2016: PeerJ
Christoph Preuss, Melanie Capredon, Florian Wünnemann, Philippe Chetaille, Andrea Prince, Beatrice Godard, Severine Leclerc, Nara Sobreira, Hua Ling, Philip Awadalla, Maryse Thibeault, Paul Khairy, Mark E Samuels, Gregor Andelfinger
Left-ventricular outflow tract obstructions (LVOTO) encompass a wide spectrum of phenotypically heterogeneous heart malformations which frequently cluster in families. We performed family based whole-exome and targeted re-sequencing on 182 individuals from 51 families with multiple affected members. Central to our approach is the family unit which serves as a reference to identify causal genotype-phenotype correlations. Screening a multitude of 10 overlapping phenotypes revealed disease associated and co-segregating variants in 12 families...
October 2016: PLoS Genetics
Baptiste Nguyen, Georges Farkouh, Séverine Raquin, Karim Benihoud
No abstract text is available yet for this article.
October 2016: Médecine Sciences: M/S
Séverine Erismann, Serge Diagbouga, Peter Odermatt, Astrid M Knoblauch, Jana Gerold, Akina Shrestha, Tarnagda Grissoum, Aminata Kaboré, Christian Schindler, Jürg Utzinger, Guéladio Cissé
BACKGROUND: Unsafe drinking water, unimproved sanitation and lack of hygiene pose health risks, particularly to children in low- and middle-income countries. This study aimed to assess the prevalence and risk factors of intestinal parasitic infections in school-aged children in two regions of Burkina Faso. METHODS: A cross-sectional survey was carried out in February 2015 with 385 children aged 8-14 years from eight randomly selected schools in the Plateau Central and Centre-Ouest regions of Burkina Faso...
October 18, 2016: Parasites & Vectors
Anders F Frellsen, Anders E Hansen, Rasmus I Jølck, Paul Kempen, Gregory W Severin, Palle H Rasmussen, Andreas Kjær, Andreas T I Jensen, Thomas L Andresen
By taking advantage of the ability of (64)Cu to bind non-specifically to gold surfaces, we have developed a new methodology to embed this radionuclide inside gold nanoparticles (AuNPs). (64)Cu enables the in vivo imaging of AuNPs by positron emission tomography (PET). AuNPs have a multitude of uses within health technology and are useful tools for general nanoparticle research. (64)Cu-AuNPs were prepared by incubating AuNP seeds with (64)Cu(2+), followed by the entrapment of the radionuclide by grafting a second layer of gold on the surface...
October 18, 2016: ACS Nano
Johannes Roth, Viviana Ravagnani, Marina Backhaus, Peter Balint, Alessandra Bruns, George A Bruyn, Paz Collado, Lorenia De la Cruz, Severine Guillaume-Czitrom, Troels Herlin, Cristina Hernandez, Annamaria Iagnocco, Sandrine Jousse-Joulin, Stefano Lanni, Vibke Lilleby, Clara Malattia, Silvia Magni-Manzoni, Consuelo Modesto, Ana Narrodi, Juan-Carlos Nieto, Sarah Ohrndorf, Linda Rossi, Anne-Marit Selvaag, Nanno Swen, Tracy Ting, Nikolay Tzaribachev, Patricia Vega-Fernandez, Jelena Vojinovic, Daniel Windschall, Maria-Antonietta D'Agostino, Esperanza Naredo
Objectives Musculoskeletal ultrasonography (US) has the potential to be an important tool in the assessment of disease activity in childhood arthritides. To assess pathology, clear definitions for synovitis need to be developed first. The aim of this study was to develop and validate these definitions through an international consensus process. Methods The decision on which US techniques to use, the components to be included in the definitions as well as the final wording were developed by 31 ultrasound experts in a consensus process...
October 16, 2016: Arthritis Care & Research
Frédéric Chamberland, Tristan Maurina, Séverine Degano-Valmary, Thierry Spicarolen, Loïc Chaigneau
Angiosarcomas are one of the rarest subtypes of sarcomas; those are malignant vascular tumors arising from vascular endothelial cells. Occurrence of intra-oral angiosarcoma is extremely rare (0.0077% of all cancers in Europe). We present here, to our knowledge, the first case of a 83-year-old man with gingival and both palatine tonsils localization of a grade-two angiosarcoma discovered after a two months history of a painful lesion followed by hematoma and spontaneous bleeding. Chemotherapy with paclitaxel and hemostatic radiotherapy were inefficient and he died seven months after the first symptoms...
September 5, 2016: Rare Tumors
Frédéric Courtier, Nadine Carbuccia, Séverine Garnier, Arnaud Guille, José Adelaïde, Nathalie Cervera, Veronique Gelsi-Boyer, Marie-Joelle Mozziconacci, Jérôme Rey, Nobert Vey, Max Chaffanet, Daniel Birnbaum, Anne Murati
No abstract text is available yet for this article.
October 14, 2016: Haematologica
Frederik Vandenberghe, Núria Saigí-Morgui, Aurélie Delacrétaz, Lina Quteineh, Séverine Crettol, Nicolas Ansermot, Mehdi Gholam-Rezaee, Armin von Gunten, Philippe Conus, Chin B Eap
BACKGROUND: Psychotropic drugs can induce significant (>5%) weight gain (WG) already after 1 month of treatment, which is a good predictor for major WG at 3 and 12 months. The large interindividual variability of drug-induced WG can be explained in part by genetic and clinical factors. AIM: The aim of this study was to determine whether extensive analysis of genes, in addition to clinical factors, can improve prediction of patients at risk for more than 5% WG at 1 month of treatment...
October 12, 2016: Pharmacogenetics and Genomics
Aaron P Russell, Marita A Wallace, Ming Kalanon, Evelyn Zacharewicz, Paul A Della Gatta, Andrew Garnham, Séverine Lamon
AIM: The striated muscle activator of Rho signalling (STARS) is a muscle-specific actin-binding protein. The STARS signalling pathway is activated by resistance exercise and is anticipated to play a role in signal mechanotransduction. Animal studies have reported a negative regulation of STARS signalling with age, but such regulation has not been investigated in humans. METHODS: Ten young (18-30 years) and 10 older (60-75 years) subjects completed an acute bout of resistance exercise...
October 14, 2016: Acta Physiologica
Severin Pinilla, Leo Nicolai, Maximilian Gradel, Tanja Pander, Martin R Fischer, Philip von der Borch, Konstantinos Dimitriadis
BACKGROUND: Peer mentoring is a powerful pedagogical approach for supporting undergraduate medical students in their learning environment. However, it remains unclear what exactly peer mentoring is and whether and how undergraduate medical students use social media for peer-mentoring activities. OBJECTIVE: We aimed at describing and exploring the Facebook use of undergraduate medical students during their first 2 years at a German medical school. The data should help medical educators to effectively integrate social media in formal mentoring programs for medical students...
October 27, 2015: JMIR Med Educ
Marie-Agnès Travers, Cissé Sow, Séverine Zirah, Christiane Deregnaucourt, Soraya Chaouch, Rayner M L Queiroz, Sébastien Charneau, Thibault Allain, Isabelle Florent, Philippe Grellier
Giardiasis, currently considered a neglected disease, is caused by the intestinal protozoan parasite Giardia duodenalis and is widely spread in human as well as domestic and wild animals. The lack of appropriate medications and the spread of resistant parasite strains urgently call for the development of novel therapeutic strategies. Host microbiota or certain probiotic strains have the capacity to provide some protection against giardiasis. By combining biological and biochemical approaches, we have been able to decipher a molecular mechanism used by the probiotic strain Lactobacillus johnsonii La1 to prevent Giardia growth in vitro...
2016: Frontiers in Microbiology
Dongzhi Yang, Gregory W Severin, Casey A Dougherty, Rachel Lombardi, Daiqin Chen, Marcian E Van Dort, Todd E Barnhart, Brian D Ross, Andrew P Mazar, Hao Hong
Mounting evidence suggests that the urokinase plasminogen activator (uPA) and its receptor (uPAR) play a central role in tumor progression. The goal of this study was to develop an 89Zr-labeled, antibody-based positron emission tomography (PET) tracer for quantitative imaging of the uPA/uPAR system. An anti-uPA monoclonal antibody (ATN-291) was conjugated with a deferoxamine (Df) derivative and subsequently labeled with 89Zr. Flow cytometry, microscopy studies, and competitive binding assays were conducted to validate the binding specificity of Df-ATN-291 against uPA...
October 8, 2016: Oncotarget
Sylvain Debard, Gaétan Bader, Johan-Owen De Craene, Ludovic Enkler, Séverine Bär, Daphné Laporte, Evelyne Myslinski, Bruno Senger, Sylvie Friant, Hubert Dominique Becker
By definition, cytosolic aminoacyl-tRNA synthetases (aaRSs) should be restricted to the cytosol of eukaryotic cells where they supply translating ribosomes with their aminoacyl-tRNA substrates. However, it has been shown that other translationally-active compartments like mitochondria and plastids can simultaneously contain the cytosolic aaRS and its corresponding organellar ortholog suggesting that both forms do not share the same organellar function. In addition, a fair number of cytosolic aaRSs have also been found in the nucleus of cells from several species...
October 7, 2016: Methods: a Companion to Methods in Enzymology
Mathieu Marmier, Giacomo Cecot, Anna V Vologzhanina, José L Bila, Ivica Zivkovic, Henrik M Ronnow, Balint Nafradi, Euro Solari, Philip Pattison, Rosario Scopelliti, Kay Severin
Dinuclear clathrochelate complexes with two, three, four, or five cyano groups in the ligand periphery were prepared following two distinct synthetic strategies: (a) zinc(ii)- or cobalt(ii)-templated polycondensation reactions of CN-functionalized arylboronic acids and phenoldioximes, or (b) postsynthetic cross-coupling reactions of polybrominated zinc(ii) clathrochelates with 4-cyanophenylboronic acid. The new clathrochelate complexes were used as metalloligands for the construction of heterometallic Zn(2+)/Ag(+) and Co(2+)/Ag(+) coordination polymers (CPs), which were characterized by single crystal X-ray diffraction and FT-IR...
October 4, 2016: Dalton Transactions: An International Journal of Inorganic Chemistry
Giacomo Cecot, Bassam Alameddine, Stéphanie Prior, Rita De Zorzi, Silvano Geremia, Rosario Scopelliti, Farzaneh T Fadaei, Euro Solari, Kay Severin
Large (Mw > 10 kDa) heterometallic coordination cages with gyrobifastigium-like geometry are obtained by using metalloligands with sterically demanding Fe(II) clathrochelate cores and four divergent pyridyl groups. Upon reaction with cis-blocked Pt(II) and Pd(II) complexes, ML4 cages are formed. The gyrobifastigium geometry of these cages is in contrast to the barrel-like structures which are typically observed for metallasupramolecular assemblies with M8L4 stoichiometry.
September 13, 2016: Chemical Communications: Chem Comm
Giuseppe Ronzitti, Giulia Bortolussi, Remco van Dijk, Fanny Collaud, Severine Charles, Christian Leborgne, Patrice Vidal, Samia Martin, Bernard Gjata, Marcelo Simon Sola, Laetitia van Wittenberghe, Alban Vignaud, Philippe Veron, Piter J Bosma, Andres F Muro, Federico Mingozzi
Crigler-Najjar syndrome is a severe metabolic disease of the liver due to a reduced activity of the UDP Glucuronosyltransferase 1A1 (UGT1A1) enzyme. In an effort to translate to the clinic an adeno-associated virus vector mediated liver gene transfer approach to treat Crigler-Najjar syndrome, we developed and optimized a vector expressing the UGT1A1 transgene. For this purpose, we designed and tested in vitro and in vivo multiple codon-optimized UGT1A1 transgene cDNAs. We also optimized noncoding sequences in the transgene expression cassette...
2016: Molecular Therapy. Methods & Clinical Development
S Cuesta, J Batuecas, M J Severin, A Funes, S B Rosso, A M Pacchioni
Cocaine addiction is a chronic relapsing disorder characterized by the loss of control over drug-seeking and taking, and continued drug use regardless of adverse consequences. Despite years of research, effective treatments for psychostimulant addiction have not been identified. Persistent vulnerability to relapse arises from a number of long lasting adaptations in the reward circuitry that mediate the enduring response to the drug. Recently, we reported that the activity of the canonical or Wnt/β-catenin pathway in the Prefrontal Cortex (PFC) is very important in the early stages of cocaine-induced neuroadaptations...
October 8, 2016: Journal of Neurochemistry
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