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https://www.readbyqxmd.com/read/28387357/genome-wide-methylation-analysis-identifies-specific-epigenetic-marks-in-severely-obese-children
#1
Delphine Fradin, Pierre-Yves Boëlle, Marie-Pierre Belot, Fanny Lachaux, Jorg Tost, Céline Besse, Jean-François Deleuze, Gianpaolo De Filippo, Pierre Bougnères
Obesity is a heterogeneous disease with many different subtypes. Epigenetics could contribute to these differences. The aim of this study was to investigate genome-wide DNA methylation searching for methylation marks associated with obesity in children and adolescents. We studied DNA methylation profiles in whole blood cells from 40 obese children and controls using Illumina Infinium HumanMethylation450 BeadChips. After correction for cell heterogeneity and multiple tests, we found that compared to lean controls, 31 CpGs are differentially methylated in obese patients...
April 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28374852/protein-s-heerlen-mutation-heterozygosity-is-associated-with-venous-thrombosis-risk
#2
P Suchon, M Germain, A Delluc, D Smadja, X Jouven, B Gyorgy, N Saut, M Ibrahim, J F Deleuze, M C Alessi, P E Morange, D A Trégouët
Hereditary Protein S (PS) deficiency is a rare coagulation disorder associated with an increased risk of venous thrombosis (VT). The PS Heerlen (PSH) mutation is a rare S501P mutation that was initially considered to be a neutral polymorphism. However, it has been later shown that PSH has a reduced half-life in vivo which may explain the association of PSH heterozygosity with mildly reduced levels of plasma free PS (FPS). Whether the risk of VT is increased in PSH carriers remains unknown. We analyzed the association of PSH (rs121918472 A/G) with VT in 4,173 VT patients and 5,970 healthy individuals from four independent case-control studies...
April 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28325938/so-doctor-now-what-do-i-do
#3
Eliana Schueler Reis
This paper proposes a discussion about acting on the therapeutic relationship using the notions of playing and the "use of an object" formulated by Winnicott; the formulations of Ferenczi as the concepts of introjection and the "ability to feel with", as well as the concept of cartography from Deleuze and Guattari. It discusses how to manage the meeting with individuals who confront the analyst with sudden questions, gestures and actions. I propose that the management of the acting considers that there is a call for a conversation in which "doing" is in question, and in which the playful dimension of activities without rules is employed as a necessary option...
March 21, 2017: American Journal of Psychoanalysis
https://www.readbyqxmd.com/read/28289185/fifteen-years-of-research-on-oral-facial-digital-syndromes-from-1-to-16-causal-genes
#4
REVIEW
Ange-Line Bruel, Brunella Franco, Yannis Duffourd, Julien Thevenon, Laurence Jego, Estelle Lopez, Jean-François Deleuze, Diane Doummar, Rachel H Giles, Colin A Johnson, Martijn A Huynen, Véronique Chevrier, Lydie Burglen, Manuela Morleo, Isabelle Desguerres, Geneviève Pierquin, Bérénice Doray, Brigitte Gilbert-Dussardier, Bruno Reversade, Elisabeth Steichen-Gersdorf, Clarisse Baumann, Inusha Panigrahi, Anne Fargeot-Espaliat, Anne Dieux, Albert David, Alice Goldenberg, Ernie Bongers, Dominique Gaillard, Jesús Argente, Bernard Aral, Nadège Gigot, Judith St-Onge, Daniel Birnbaum, Shubha R Phadke, Valérie Cormier-Daire, Thibaut Eguether, Gregory J Pazour, Vicente Herranz-Pérez, Jaclyn S Goldstein, Laurent Pasquier, Philippe Loget, Sophie Saunier, André Mégarbané, Olivier Rosnet, Michel R Leroux, John B Wallingford, Oliver E Blacque, Maxence V Nachury, Tania Attie-Bitach, Jean-Baptiste Rivière, Laurence Faivre, Christel Thauvin-Robinet
Oral-facial-digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others) to delineate a growing list of OFDS subtypes. The most frequent, OFD type I, is caused by a heterozygous mutation in the OFD1 gene encoding a centrosomal protein. The wide clinical heterogeneity of OFDS suggests the involvement of other ciliary genes. For 15 years, we have aimed to identify the molecular bases of OFDS...
March 13, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28256728/genetic-characterization-of-a-french-cohort-of-gne-mutation-negative-inclusion-body-myopathy-patients-using-exome-sequencing
#5
Mathieu Cerino, Svetlana Gorokhova, Pascal Laforet, Rabah Ben Yaou, Emmanuelle Salort-Campana, Jean Pouget, Shahram Attarian, Bruno Eymard, Jean-François Deleuze, Anne Boland, Anthony Behin, Tanya Stojkovic, Gisele Bonne, Nicolas Levy, Marc Bartoli, Martin Krahn
INTRODUCTION: Hereditary inclusion body myopathy (hIBM) refers to a group of clinically and genetically heterogeneous diseases. The overlapping histochemical features of hIBM with other genetic disorders lead to low diagnostic rates with targeted single-gene sequencing. This is true for the most prevalent form of hIBM, GNEpathy. Thus, we used whole exome sequencing (WES) to evaluate whether a cohort of clinically suspected GNEpathy patients undiagnosed by targeted GNE analysis could be genetically characterized...
March 3, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28255014/macrothrombocytopenia-and-dense-granule-deficiency-associated-with-fli1-variants-ultrastructural-and-pathogenic-features
#6
Paul Saultier, Léa Vidal, Matthias Canault, Denis Bernot, Céline Falaise, Catherine Pouymayou, Jean-Claude Bordet, Noémie Saut, Agathe Rostan, Véronique Baccini, Franck Peiretti, Marie Favier, Pauline Lucca, Jean-François Deleuze, Robert Olaso, Anne Boland, Pierre Emmanuel Morange, Christian Gachet, Fabrice Malergue, Sixtine Fauré, Anita Eckly, David-Alexandre Trégouët, Marjorie Poggi, Marie-Christine Alessi
Congenital macrothrombocytopenia is a family of rare diseases, of which a significant fraction remains to be genetically characterized. To analyze cases of unexplained thrombocytopenia, 27 individuals from a patient cohort of the Bleeding and Thrombosis Exploration Center of the University Hospital of Marseille were recruited for a high-throughput gene sequencing study. This strategy led to the identification of two novel FLI1 variants (c.1010G>A and c.1033A>G) responsible for macrothrombocytopenia. The FLI1 variant carriers platelets exhibited a defect in aggregation induced by low dose ADP, collagen and TRAP, a defect in ATP secretion, a reduced mepacrine uptake and release and a reduced CD63 expression upon TRAP stimulation...
March 2, 2017: Haematologica
https://www.readbyqxmd.com/read/28240211/-toward-dynamic-informed-consent
#7
Henri-Corto Stoeklé, Jean-François Deleuze, Guillaume Vogt, Christian Hervé
"Personalized medicine" or "data medicine" should make it possible to use mass data to tailor patient treatment. These data are collected from analyses of biological samples, combined with clinical data. At a time when all sorts of information are instantly available via the Internet, the protection of genetic data, in particular, raises new issues with regard to the nature, means, status and usage of these data. Solutions to these problems are required, together with a clear, unambiguous legal, moral and ethical stance, to facilitate the spatial and temporal development of personalized medicine...
February 2017: Médecine Sciences: M/S
https://www.readbyqxmd.com/read/28220677/toward-a-sociology-of-oceans
#8
John Hannigan
Despite covering around 70 percent of the earth's surface, the ocean has long been ignored by sociology or treated as merely an extension of land-based systems. Increasingly, however, oceans are assuming a higher profile, emerging both as a new resource frontier, a medium for geopolitical rivalry and conflict, and a unique and threatened ecological hot spot. In this article, I propose a new sociological specialty area, the "sociology of oceans" to be situated at the interface between environmental sociology and traditional maritime studies...
February 2017: Canadian Review of Sociology, Revue Canadienne de Sociologie
https://www.readbyqxmd.com/read/28220527/recessive-mypn-mutations-cause-cap-myopathy-with-occasional-nemaline-rods
#9
Xavière Lornage, Edoardo Malfatti, Chrystel Chéraud, Raphaël Schneider, Valérie Biancalana, Jean-Marie Cuisset, Matteo Garibaldi, Bruno Eymard, Michel Fardeau, Anne Boland, Jean-François Deleuze, Julie Thompson, Robert-Yves Carlier, Johann Böhm, Norma B Romero, Jocelyn Laporte
Congenital myopathies are phenotypically and genetically heterogeneous. We describe homozygous truncating mutations in MYPN in 2 unrelated families with a slowly progressive congenital cap myopathy. MYPN encodes the Z-line protein myopalladin implicated in sarcomere integrity. Functional experiments demonstrate that the mutations lead to mRNA defects and to a strong reduction in full-length protein expression. Myopalladin signals accumulate in the caps together with alpha-actinin. Dominant MYPN mutations were previously reported in cardiomyopathies...
March 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28188264/immortalized-human-myotonic-dystrophy-muscle-cell-lines-to-assess-therapeutic-compounds
#10
Ludovic Arandel, Micaela Polay-Espinosa, Magdalena Matloka, Audrey Bazinet, Damily De Dea Diniz, Naïra Naouar, Frédérique Rau, Arnaud Jollet, Frédérique Edom-Vovard, Kamel Mamchaoui, Mark Tarnopolsky, Jack Puymirat, Christophe Battail, Anne Boland, Jean-Francois Deleuze, Vincent Mouly, Arnaud F Klein, Denis Furling
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are autosomal dominant neuromuscular diseases caused by microsatellite expansions and belong to the family of RNA dominant disorders. Availability of cellular models in which the DM mutation is expressed within its natural context is essential to facilitate efforts to identify new therapeutic compounds. Here we generated immortalized DM1 and DM2 human muscle cell lines that display nuclear RNA-aggregates of expanded repeats, a hallmark of myotonic dystrophy. Selected clones of DM1 and DM2 immortalized myoblasts behave as parental primary myoblasts with a reduced fusion capacity of immortalized DM1 myoblasts when compared to control and DM2 cells...
February 10, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28093751/the-emergence-of-the-ecological-mind-in-hua-yen-kegon-buddhism-and-jungian-psychology
#11
Joe Cambray
The complexity associated with deep interconnectedness in nature is beginning to be articulated and elaborated in the field of ecological studies. While some parallels to the psyche have been made and the field of Eco-psychology has been developing, Jung's explicit contribution by way of the image of rhizomes has not been considered in detail. Philosopher Gilles Deleuze acknowledges borrowing the term from Jung, though he disagreed with Jung's Empedoclean use of the term. The paper presents some fundamental properties of rhizomes along with contemporary scientific research on mycorrhizal (fungal) networks...
February 2017: Journal of Analytical Psychology
https://www.readbyqxmd.com/read/28078944/rethinking-the-relationship-between-socio-economic-status-and-health-making-the-case-for-sociological-theory-in-health-inequality-research
#12
Emil Øversveen, Håvard T Rydland, Clare Bambra, Terje A Eikemo
AIM: The aim of this study is to analyse previous explanations of social inequality in health and argue for a closer integration of sociological theory into future empirical research. METHODS: We examine cultural-behavioural, materialist, psychosocial and life-course approaches, in addition to fundamental cause theory. Giddens' structuration theory and a neo-materialist approach, inspired by Bruno Latour, Gilles Deleuze and Felix Guattari, are proposed as ways of rethinking the causal relationship between socio-economic status and health...
January 1, 2017: Scandinavian Journal of Public Health
https://www.readbyqxmd.com/read/28068333/bdf1-bromodomains-are-essential-for-meiosis-and-the-expression-of-meiotic-specific-genes
#13
Encar García-Oliver, Claire Ramus, Jonathan Perot, Marie Arlotto, Morgane Champleboux, Flore Mietton, Christophe Battail, Anne Boland, Jean-François Deleuze, Myriam Ferro, Yohann Couté, Jérôme Govin
Bromodomain and Extra-terminal motif (BET) proteins play a central role in transcription regulation and chromatin signalling pathways. They are present in unicellular eukaryotes and in this study, the role of the BET protein Bdf1 has been explored in Saccharomyces cerevisiae. Mutation of Bdf1 bromodomains revealed defects on both the formation of spores and the meiotic progression, blocking cells at the exit from prophase, before the first meiotic division. This phenotype is associated with a massive deregulation of the transcription of meiotic genes and Bdf1 bromodomains are required for appropriate expression of the key meiotic transcription factor NDT80 and almost all the Ndt80-inducible genes, including APC complex components...
January 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28058752/orai1-mutations-with-distinct-channel-gating-defects-in-tubular-aggregate-myopathy
#14
Johann Böhm, Monica Bulla, Jill E Urquhart, Edoardo Malfatti, Simon G Williams, James O'Sullivan, Anastazja Szlauer, Catherine Koch, Giovanni Baranello, Marina Mora, Michela Ripolone, Raffaella Violano, Maurizio Moggio, Helen Kingston, Timothy Dawson, Christian G DeGoede, John Nixon, Anne Boland, Jean-François Deleuze, Norma Romero, William G Newman, Nicolas Demaurex, Jocelyn Laporte
Calcium (Ca(2+) ) is a physiological key factor, and the precise modulation of free cytosolic Ca(2+) levels regulates multiple cellular functions. Store-operated Ca(2+) entry (SOCE) is a major mechanism controlling Ca(2+) homeostasis, and is mediated by the concerted activity of the Ca(2+) sensor STIM1 and the Ca(2+) channel ORAI1. Dominant gain-of-function mutations in STIM1 or ORAI1 cause tubular aggregate myopathy (TAM) or Stormorken syndrome, whereas recessive loss-of-function mutations are associated with immunodeficiency...
April 2017: Human Mutation
https://www.readbyqxmd.com/read/28055106/imidazoquinoxaline-derivative-eapb0503-a-promising-drug-targeting-mutant-nucleophosmin-1-in-acute-myeloid-leukemia
#15
Ali I Nabbouh, Rita S Hleihel, Jessica L Saliba, Martin M Karam, Maguy H Hamie, Hsin-Chieh J M Wu, Caroline P Berthier, Nadim M Tawil, Pierre-Antoine A Bonnet, Carine Deleuze-Masquefa, Hiba A El Hajj
BACKGROUND: Nucleophosmin 1 (NPM1) is a nucleocytoplasmic shuttling protein mainly localized in the nucleolus. NPM1 is frequently mutated in acute myeloid leukemia (AML). NPM1c oligomerizes with wild-type nucleophosmin 1 (wt-NPM1), and this leads to its continuous cytoplasmic delocalization and contributes to leukemogenesis. Recent studies have shown that Cytoplasmic NPM1 (NPM1c) degradation leads to growth arrest and apoptosis of NPM1c AML cells and corrects wt-NPM1 normal nucleolar localization...
January 5, 2017: Cancer
https://www.readbyqxmd.com/read/28033714/scholars-open-debate-paper-on-the-world-health-organization-icd-11-gaming-disorder-proposal
#16
Espen Aarseth, Anthony M Bean, Huub Boonen, Michelle Colder Carras, Mark Coulson, Dimitri Das, Jory Deleuze, Elza Dunkels, Johan Edman, Christopher J Ferguson, Maria C Haagsma, Karin Helmersson Bergmark, Zaheer Hussain, Jeroen Jansz, Daniel Kardefelt-Winther, Lawrence Kutner, Patrick Markey, Rune Kristian Lundedal Nielsen, Nicole Prause, Andrew Przybylski, Thorsten Quandt, Adriano Schimmenti, Vladan Starcevic, Gabrielle Stutman, Jan Van Looy, Antonius J Van Rooij
Concerns about problematic gaming behaviors deserve our full attention. However, we claim that it is far from clear that these problems can or should be attributed to a new disorder. The empirical basis for a Gaming Disorder proposal, such as in the new ICD-11, suffers from fundamental issues. Our main concerns are the low quality of the research base, the fact that the current operationalization leans too heavily on substance use and gambling criteria, and the lack of consensus on symptomatology and assessment of problematic gaming...
December 30, 2016: Journal of Behavioral Addictions
https://www.readbyqxmd.com/read/28018016/an-ethical-moment-in-data-sharing
#17
Catherine Heeney
This study draws on interviews with forty-nine members of a biomedical research community in the UK that is involved in negotiating data sharing and access. During an interview, an interviewee used the words "ethical moment" to describe a confrontation between collaborators in relation to data sharing. In this article, I use this as a lens for thinking about relations between "the conceptual and the empirical" in a way that allows both analyst and actor to challenge the status quo and consider other ethical possibilities...
January 2017: Science, Technology & Human Values
https://www.readbyqxmd.com/read/28012042/dihydropyridine-receptor-dhpr-cacna1s-congenital-myopathy
#18
Vanessa Schartner, Norma B Romero, Sandra Donkervoort, Susan Treves, Pinki Munot, Tyler Mark Pierson, Ivana Dabaj, Edoardo Malfatti, Irina T Zaharieva, Francesco Zorzato, Osorio Abath Neto, Guy Brochier, Xavière Lornage, Bruno Eymard, Ana Lía Taratuto, Johann Böhm, Hernan Gonorazky, Leigh Ramos-Platt, Lucy Feng, Rahul Phadke, Diana X Bharucha-Goebel, Charlotte Jane Sumner, Mai Thao Bui, Emmanuelle Lacene, Maud Beuvin, Clémence Labasse, Nicolas Dondaine, Raphael Schneider, Julie Thompson, Anne Boland, Jean-François Deleuze, Emma Matthews, Aleksandra Nadaj Pakleza, Caroline A Sewry, Valérie Biancalana, Susana Quijano-Roy, Francesco Muntoni, Michel Fardeau, Carsten G Bönnemann, Jocelyn Laporte
Muscle contraction upon nerve stimulation relies on excitation-contraction coupling (ECC) to promote the rapid and generalized release of calcium within myofibers. In skeletal muscle, ECC is performed by the direct coupling of a voltage-gated L-type Ca(2+) channel (dihydropyridine receptor; DHPR) located on the T-tubule with a Ca(2+) release channel (ryanodine receptor; RYR1) on the sarcoplasmic reticulum (SR) component of the triad. Here, we characterize a novel class of congenital myopathy at the morphological, molecular, and functional levels...
April 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28003497/expanding-the-spectrum-of-congenital-myopathy-linked-to-recessive-mutations-in-scn4a
#19
Sandra Mercier, Xavière Lornage, Edoardo Malfatti, Pascale Marcorelles, Franck Letournel, Cécile Boscher, Gaëlle Caillaux, Armelle Magot, Johann Böhm, Anne Boland, Jean-François Deleuze, Norma Romero, Yann Péréon, Jocelyn Laporte
No abstract text is available yet for this article.
January 24, 2017: Neurology
https://www.readbyqxmd.com/read/27956742/17q21-31-duplication-causes-prominent-tau-related-dementia-with-increased-mapt-expression
#20
K Le Guennec, O Quenez, G Nicolas, D Wallon, S Rousseau, A-C Richard, J Alexander, P Paschou, C Charbonnier, C Bellenguez, B Grenier-Boley, D Lechner, M-T Bihoreau, R Olaso, A Boland, V Meyer, J-F Deleuze, P Amouyel, H M Munter, G Bourque, M Lathrop, T Frebourg, R Redon, L Letenneur, J-F Dartigues, O Martinaud, O Kalev, S Mehrabian, L Traykov, T Ströbel, I Le Ber, P Caroppo, S Epelbaum, T Jonveaux, F Pasquier, A Rollin-Sillaire, E Génin, L Guyant-Maréchal, G G Kovacs, J-C Lambert, D Hannequin, D Campion, A Rovelet-Lecrux
To assess the role of rare copy number variations in Alzheimer's disease (AD), we conducted a case-control study using whole-exome sequencing data from 522 early-onset cases and 584 controls. The most recurrent rearrangement was a 17q21.31 microduplication, overlapping the CRHR1, MAPT, STH and KANSL1 genes that was found in four cases, including one de novo rearrangement, and was absent in controls. The increased MAPT gene dosage led to a 1.6-1.9-fold expression of the MAPT messenger RNA. Clinical signs, neuroimaging and cerebrospinal fluid biomarker profiles were consistent with an AD diagnosis in MAPT duplication carriers...
December 13, 2016: Molecular Psychiatry
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