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https://www.readbyqxmd.com/read/28188264/immortalized-human-myotonic-dystrophy-muscle-cell-lines-to-assess-therapeutic-compounds
#1
Arandel Ludovic, Polay-Espinosa Micaela, Matloka Magdalena, Bazinet Audrey, De Dea Diniz Damily, Naouar Naïra, Rau Frédérique, Jollet Arnaud, Edom-Vovard Frédérique, Mamchaoui Kamel, Tarnopolsky Mark, Puymirat Jack, Battail Christophe, Boland Anne, Deleuze Jean-Francois, Mouly Vincent, Klein F Arnaud, Furling Denis
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
#2
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
#3
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
#4
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
#5
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, while recessive loss-of-function mutations are associated with immunodeficiency...
January 6, 2017: Human Mutation
https://www.readbyqxmd.com/read/28055106/imidazoquinoxaline-derivative-eapb0503-a-promising-drug-targeting-mutant-nucleophosmin-1-in-acute-myeloid-leukemia
#6
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
#7
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
#8
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
#9
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...
December 23, 2016: Acta Neuropathologica
https://www.readbyqxmd.com/read/28003497/expanding-the-spectrum-of-congenital-myopathy-linked-to-recessive-mutations-in-scn4a
#10
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
#11
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
https://www.readbyqxmd.com/read/27940131/comparison-of-the-quantification-of-kras-mutations-by-digital-pcr-and-e-ice-cold-pcr-in-circulating-cell-free-dna-from-metastatic-colorectal-cancer-patients
#12
COMPARATIVE STUDY
David Sefrioui, Florence Mauger, Laurence Leclere, Ludivine Beaussire, Frédéric Di Fiore, Jean-François Deleuze, Nasrin Sarafan-Vasseur, Jörg Tost
Circulating cell-free DNA (ccfDNA) bears great promise as biomarker for personalized medicine, but ccfDNA is present only at low levels in the plasma or serum of cancer patients. E-ice-COLD-PCR is a recently developed enrichment method to detect and identify mutations present at low-abundance in clinical samples. However, recent studies have shown the importance to accurately quantify low-abundance mutations as clinically important decisions will depend on certain mutation thresholds. The possibility for an enrichment method to accurately quantify the mutation levels remains a point of concern and might limit its clinical applicability...
February 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/27829987/passive-silent-and-revolutionary-the-arab-spring-revisited
#13
Billie Jeanne Brownlee, Maziyar Ghiabi
To counter the trend toward mechanization of research and aridity of critical analysis, this article makes a case for an interdisciplinary quest. To borrow Felix Guattari and Gilles Deleuze's phrase, we are convinced that 'everything is political, but every politics is simultaneously a macropolitics and a micropolitics.' With an eye to open-ended research questions, this article attempts to build a body of theoretical, political and anthropological considerations, which, it is hoped, could function as a case of enquiry into the mechanics of power, revolt and revolution...
2016: Middle East Crit
https://www.readbyqxmd.com/read/27768888/genetic-adaptation-and-neandertal-admixture-shaped-the-immune-system-of-human-populations
#14
Hélène Quach, Maxime Rotival, Julien Pothlichet, Yong-Hwee Eddie Loh, Michael Dannemann, Nora Zidane, Guillaume Laval, Etienne Patin, Christine Harmant, Marie Lopez, Matthieu Deschamps, Nadia Naffakh, Darragh Duffy, Anja Coen, Geert Leroux-Roels, Frederic Clément, Anne Boland, Jean-François Deleuze, Janet Kelso, Matthew L Albert, Lluis Quintana-Murci
Humans differ in the outcome that follows exposure to life-threatening pathogens, yet the extent of population differences in immune responses and their genetic and evolutionary determinants remain undefined. Here, we characterized, using RNA sequencing, the transcriptional response of primary monocytes from Africans and Europeans to bacterial and viral stimuli-ligands activating Toll-like receptor pathways (TLR1/2, TLR4, and TLR7/8) and influenza virus-and mapped expression quantitative trait loci (eQTLs)...
October 20, 2016: Cell
https://www.readbyqxmd.com/read/27764800/gwas-in-the-signal-phare-clinical-cohort-restricts-the-association-between-the-fgfr2-locus-and-estrogen-receptor-status-to-her2-negative-breast-cancer-patients
#15
David G Cox, Elsa Curtit, Gilles Romieu, Pierre Fumoleau, Maria Rios, Hervé Bonnefoi, Thomas Bachelot, Patrick Soulié, Christelle Jouannaud, Hugues Bourgeois, Thierry Petit, Isabelle Tennevet, David Assouline, Marie-Christine Mathieu, Jean-Philippe Jacquin, Sandrine Lavau-Denes, Ariane Darut-Jouve, Jean-Marc Ferrero, Carole Tarpin, Christelle Lévy, Valérie Delecroix, Véronique Trillet-Lenoir, Oana Cojocarasu, Jérôme Meunier, Jean-Yves Pierga, Céline Faure-Mercier, Hélène Blanché, Mourad Sahbatou, Anne Boland, Delphine Bacq, Céline Besse, Jean-François Deleuze, Iris Pauporté, Gilles Thomas, Xavier Pivot
Genetic polymorphisms are associated with breast cancer risk. Clinical and epidemiological observations suggest that clinical characteristics of breast cancer, such as estrogen receptor or HER2 status, are also influenced by hereditary factors. To identify genetic variants associated with pathological characteristics of breast cancer patients, a Genome Wide Association Study was performed in a cohort of 9365 women from the French nationwide SIGNAL/PHARE studies (NCT00381901/RECF1098). Strong association between the FGFR2 locus and ER status of breast cancer patients was observed (ER-positive n=6211, ER-negative n=2516; rs3135718 OR=1...
October 14, 2016: Oncotarget
https://www.readbyqxmd.com/read/27748205/nonlethal-chrna1-related-congenital-myasthenic-syndrome-with-a-homozygous-null-mutation
#16
Osorio Abath Neto, Carlos Otto Heise, Cristiane de Araújo Martins Moreno, Eduardo de Paula Estephan, Lilia Mesrob, Doris Lechner, Anne Boland, Jean-François Deleuze, Acary Souza Bulle Oliveira, Umbertina Conti Reed, Valérie Biancalana, Jocelyn Laporte, Edmar Zanoteli
No abstract text is available yet for this article.
January 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/27745833/variants-in-the-oxidoreductase-pyroxd1-cause-early-onset-myopathy-with-internalized-nuclei-and-myofibrillar-disorganization
#17
Gina L O'Grady, Heather A Best, Tamar E Sztal, Vanessa Schartner, Myriam Sanjuan-Vazquez, Sandra Donkervoort, Osorio Abath Neto, Roger Bryan Sutton, Biljana Ilkovski, Norma Beatriz Romero, Tanya Stojkovic, Jahannaz Dastgir, Leigh B Waddell, Anne Boland, Ying Hu, Caitlin Williams, Avnika A Ruparelia, Thierry Maisonobe, Anthony J Peduto, Stephen W Reddel, Monkol Lek, Taru Tukiainen, Beryl B Cummings, Himanshu Joshi, Juliette Nectoux, Susan Brammah, Jean-François Deleuze, Viola Oorschot Ing, Georg Ramm, Didem Ardicli, Kristen J Nowak, Beril Talim, Haluk Topaloglu, Nigel G Laing, Kathryn N North, Daniel G MacArthur, Sylvie Friant, Nigel F Clarke, Robert J Bryson-Richardson, Carsten G Bönnemann, Jocelyn Laporte, Sandra T Cooper
This study establishes PYROXD1 variants as a cause of early-onset myopathy and uses biospecimens and cell lines, yeast, and zebrafish models to elucidate the fundamental role of PYROXD1 in skeletal muscle. Exome sequencing identified recessive variants in PYROXD1 in nine probands from five families. Affected individuals presented in infancy or childhood with slowly progressive proximal and distal weakness, facial weakness, nasal speech, swallowing difficulties, and normal to moderately elevated creatine kinase...
November 3, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27714954/nursing-with-care-a-meditation-in-three-voices-in-memoriam-john-s-drummond
#18
Christine Ceci, Mary Ellen Purkis, Francine Wynn
This paper is a written version of a talk given at the 19(th) International Philosophy of Nursing conference to honour the contributions of Dr. John S. Drummond, nurse and philosopher, to an ongoing and collective project we could call 'thinking nursing'. Over the course of his career, John Drummond published a series of essays, building on his reading of the works of continental philosophers such as Nietzsche, Lyotard or Deleuze, that draw us to nursing as a matter of concern, and that through their incisive analyses, help us to pay attention to the changes that are going on with nursing now...
January 2017: Nursing Philosophy: An International Journal for Healthcare Professionals
https://www.readbyqxmd.com/read/27694961/mutations-in-the-hect-domain-of-nedd4l-lead-to-akt-mtor-pathway-deregulation-and-cause-periventricular-nodular-heterotopia
#19
Loïc Broix, Hélène Jagline, Ekaterina L Ivanova, Stéphane Schmucker, Nathalie Drouot, Jill Clayton-Smith, Alistair T Pagnamenta, Kay A Metcalfe, Bertrand Isidor, Ulrike Walther Louvier, Annapurna Poduri, Jenny C Taylor, Peggy Tilly, Karine Poirier, Yoann Saillour, Nicolas Lebrun, Tristan Stemmelen, Gabrielle Rudolf, Giuseppe Muraca, Benjamin Saintpierre, Adrienne Elmorjani, Martin Moïse, Nathalie Bednarek Weirauch, Renzo Guerrini, Anne Boland, Robert Olaso, Cecile Masson, Ratna Tripathy, David Keays, Cherif Beldjord, Laurent Nguyen, Juliette Godin, Usha Kini, Patrick Nischké, Jean-François Deleuze, Nadia Bahi-Buisson, Izabela Sumara, Maria-Victoria Hinckelmann, Jamel Chelly
Neurodevelopmental disorders with periventricular nodular heterotopia (PNH) are etiologically heterogeneous, and their genetic causes remain in many cases unknown. Here we show that missense mutations in NEDD4L mapping to the HECT domain of the encoded E3 ubiquitin ligase lead to PNH associated with toe syndactyly, cleft palate and neurodevelopmental delay. Cellular and expression data showed sensitivity of PNH-associated mutants to proteasome degradation. Moreover, an in utero electroporation approach showed that PNH-related mutants and excess wild-type NEDD4L affect neurogenesis, neuronal positioning and terminal translocation...
November 2016: Nature Genetics
https://www.readbyqxmd.com/read/27645988/exclusion-of-complex-paraannular-aortic-abscess-with-the-freestyle-xenograft
#20
Julien Guihaire, Martin Kloeckner, Philippe Deleuze
Destructive aortic valve endocarditis is a serious condition that can result in aortoventricular disjunction. The appropriate surgical approach for severe excavating lesions remains a matter of debate. Homografts, prosthetic valves associated with a pericardial patch for annulus repair, and prosthetic valve conduits can be used. We report the technical issue of subcoronary inclusion of the full root Freestyle xenograft for complicated aortic endocarditis extending to the left ventricular outflow tract.
October 2016: Annals of Thoracic Surgery
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