keyword
MENU ▼
Read by QxMD icon Read
search

Deleuze

keyword
https://www.readbyqxmd.com/read/29449551/mutations-in-cfap43-and-cfap44-cause-male-infertility-and-flagellum-defects-in-trypanosoma-and-human
#1
Charles Coutton, Alexandra S Vargas, Amir Amiri-Yekta, Zine-Eddine Kherraf, Selima Fourati Ben Mustapha, Pauline Le Tanno, Clémentine Wambergue-Legrand, Thomas Karaouzène, Guillaume Martinez, Serge Crouzy, Abbas Daneshipour, Seyedeh Hanieh Hosseini, Valérie Mitchell, Lazhar Halouani, Ouafi Marrakchi, Mounir Makni, Habib Latrous, Mahmoud Kharouf, Jean-François Deleuze, Anne Boland, Sylviane Hennebicq, Véronique Satre, Pierre-Simon Jouk, Nicolas Thierry-Mieg, Beatrice Conne, Denis Dacheux, Nicolas Landrein, Alain Schmitt, Laurence Stouvenel, Patrick Lorès, Elma El Khouri, Serge P Bottari, Julien Fauré, Jean-Philippe Wolf, Karin Pernet-Gallay, Jessica Escoffier, Hamid Gourabi, Derrick R Robinson, Serge Nef, Emmanuel Dulioust, Raoudha Zouari, Mélanie Bonhivers, Aminata Touré, Christophe Arnoult, Pierre F Ray
Spermatogenesis defects concern millions of men worldwide, yet the vast majority remains undiagnosed. Here we report men with primary infertility due to multiple morphological abnormalities of the sperm flagella with severe disorganization of the sperm axoneme, a microtubule-based structure highly conserved throughout evolution. Whole-exome sequencing was performed on 78 patients allowing the identification of 22 men with bi-allelic mutations in DNAH1 (n = 6), CFAP43 (n = 10), and CFAP44 (n = 6). CRISPR/Cas9 created homozygous CFAP43/44 male mice that were infertile and presented severe flagellar defects confirming the human genetic results...
February 15, 2018: Nature Communications
https://www.readbyqxmd.com/read/29437287/novel-mutations-in-dnajb6-cause-lgmd1d-and-distal-myopathy-in-french-families
#2
Per H Jonson, Johanna Palmio, Mridul Johari, Sini Penttilä, Anni Evilä, Isabelle Nelson, Gisèle Bonne, Nicolas Wiart, Vincent Meyer, Anne Boland, Jean-François Deleuze, Cécile Masson, Tanya Stojkovic, Françoise Chapon, Norma B Romero, Guilhem Solé, Xavier Ferrer, Ana Ferreiro, Peter Hackman, Isabelle Richard, Bjarne Udd
BACKGROUND AND PURPOSE: To determine the genetic background of unknown muscular dystrophy in five French families. METHODS: Twelve patients with limb girdle muscular dystrophy or distal myopathy were clinically evaluated. Gene mutations were identified using targeted exon sequencing and mutated DNAJB6 was tested in vitro. RESULTS: Five patients presented with distal lower limb weakness while others had proximal presentation with variable rate of progression starting at the median age of 34...
February 13, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29402293/genetic-variants-of-rnase3-ecp-and-susceptibility-to-severe-malaria-in-senegalese-population
#3
Gora Diop, Céline Derbois, Cheikh Loucoubar, Babacar Mbengue, Bineta Niakhana Ndao, Fatou Thiam, Alassane Thiam, Rokhaya Ndiaye, Yakhya Dieye, Robert Olaso, Jean-Francois Deleuze, Alioune Dieye
BACKGROUND: Severe forms of malaria (SM) are an outcome of Plasmodium falciparum infection and can cause death especially in children under 4 years of age. RNASE3 (ECP) has been identified as an inhibitor of Plasmodium parasites growth in vitro, and genetic analysis in hospitalized Ghanaian subjects has revealed the RNASE3 +371G/C (rs2073342) polymorphism as a susceptibility factor for cerebral malaria. The +371 C allele results in an Arg/Thr mutation that abolishes the cytotoxic activity of the ECP protein...
February 5, 2018: Malaria Journal
https://www.readbyqxmd.com/read/29343442/the-transcription-factor-stat6-mediates-direct-repression-of-inflammatory-enhancers-and-limits-activation-of-alternatively-polarized-macrophages
#4
Zsolt Czimmerer, Bence Daniel, Attila Horvath, Dominik Rückerl, Gergely Nagy, Mate Kiss, Matthew Peloquin, Marietta M Budai, Ixchelt Cuaranta-Monroy, Zoltan Simandi, Laszlo Steiner, Bela Nagy, Szilard Poliska, Csaba Banko, Zsolt Bacso, Ira G Schulman, Sascha Sauer, Jean-Francois Deleuze, Judith E Allen, Szilvia Benko, Laszlo Nagy
The molecular basis of signal-dependent transcriptional activation has been extensively studied in macrophage polarization, but our understanding remains limited regarding the molecular determinants of repression. Here we show that IL-4-activated STAT6 transcription factor is required for the direct transcriptional repression of a large number of genes during in vitro and in vivo alternative macrophage polarization. Repression results in decreased lineage-determining transcription factor, p300, and RNA polymerase II binding followed by reduced enhancer RNA expression, H3K27 acetylation, and chromatin accessibility...
January 16, 2018: Immunity
https://www.readbyqxmd.com/read/29342233/quantumclone-clonal-assessment-of-functional-mutations-in-cancer-based-on-a-genotype-aware-method-for-clonal-reconstruction
#5
Paul Deveau, Leo Colmet Daage, Derek Oldridge, Virginie Bernard, Angela Bellini, Mathieu Chicard, Nathalie Clement, Eve Lapouble, Valerie Combaret, Anne Boland, Vincent Meyer, Jean-Francois Deleuze, Isabelle Janoueix-Lerosey, Emmanuel Barillot, Olivier Delattre, John Maris, Gudrun Schleiermacher, Valentina Boeva
Motivation: In cancer, clonal evolution is assessed based on information coming from single nucleotide variants and copy number alterations. Nonetheless, existing methods often fail to accurately combine information from both sources to truthfully reconstruct clonal populations in a given tumor sample or in a set of tumor samples coming from the same patient. Moreover, previously published methods detect clones from a single set of variants. As a result, compromises have to be done between stringent variant filtering (reducing dispersion in variant allele frequency estimates, VAFs) and using all biologically relevant variants...
January 12, 2018: Bioinformatics
https://www.readbyqxmd.com/read/29339726/publisher-correction-identification-and-characterization-of-two-functional-variants-in-the-human-longevity-gene-foxo3
#6
Friederike Flachsbart, Janina Dose, Liljana Gentschew, Claudia Geismann, Amke Caliebe, Carolin Knecht, Marianne Nygaard, Nandini Badarinarayan, Abdou ElSharawy, Sandra May, Anne Luzius, Guillermo G Torres, Marlene Jentzsch, Michael Forster, Robert Häsler, Kathrin Pallauf, Wolfgang Lieb, Céline Derbois, Pilar Galan, Dmitriy Drichel, Alexander Arlt, Andreas Till, Ben Krause-Kyora, Gerald Rimbach, Hélène Blanché, Jean-François Deleuze, Lene Christiansen, Kaare Christensen, Michael Nothnagel, Philip Rosenstiel, Stefan Schreiber, Andre Franke, Susanne Sebens, Almut Nebel
The original version of this Article contained an error in the spelling of the author Robert Häsler, which was incorrectly given as Robert Häesler. This has now been corrected in both the PDF and HTML versions of the Article.
January 17, 2018: Nature Communications
https://www.readbyqxmd.com/read/29305762/the-dance-of-attention-toward-an-aesthetic-dimension-of-attention-deficit
#7
Kasper Levin
What role does the aesthetics of bodily movement play in the understanding of attention among children diagnosed with attention-deficit/hyperactivity disorder (ADHD)? This article animates a phenomenological approach to attention and embodiment with a special focus on the relation between aesthetic or expressive bodily movement and behavioral awareness in children diagnosed with ADHD. However, beyond this it is argued that the aesthetic aspect of movement calls for an expansion of the phenomenological perspective...
March 2018: Integrative Psychological & Behavioral Science
https://www.readbyqxmd.com/read/29304377/the-comoros-show-the-earliest-austronesian-gene-flow-into-the-swahili-corridor
#8
Nicolas Brucato, Veronica Fernandes, Stéphane Mazières, Pradiptajati Kusuma, Murray P Cox, Joseph Wainaina Ng'ang'a, Mohammed Omar, Marie-Claude Simeone-Senelle, Coralie Frassati, Farida Alshamali, Bertrand Fin, Anne Boland, Jean-Francois Deleuze, Mark Stoneking, Alexander Adelaar, Alison Crowther, Nicole Boivin, Luisa Pereira, Pascal Bailly, Jacques Chiaroni, François-Xavier Ricaut
At the dawn of the second millennium, the expansion of the Indian Ocean trading network aligned with the emergence of an outward-oriented community along the East African coast to create a cosmopolitan cultural and trading zone known as the Swahili Corridor. On the basis of analyses of new genome-wide genotyping data and uniparental data in 276 individuals from coastal Kenya and the Comoros islands, along with large-scale genetic datasets from the Indian Ocean rim, we reconstruct historical population dynamics to show that the Swahili Corridor is largely an eastern Bantu genetic continuum...
January 4, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29304371/rare-coding-variants-in-angptl6-are-associated-with-familial-forms-of-intracranial-aneurysm
#9
Romain Bourcier, Solena Le Scouarnec, Stéphanie Bonnaud, Matilde Karakachoff, Emmanuelle Bourcereau, Sandrine Heurtebise-Chrétien, Céline Menguy, Christian Dina, Floriane Simonet, Alexis Moles, Cédric Lenoble, Pierre Lindenbaum, Stéphanie Chatel, Bertrand Isidor, Emmanuelle Génin, Jean-François Deleuze, Jean-Jacques Schott, Hervé Le Marec, Gervaise Loirand, Hubert Desal, Richard Redon
Intracranial aneurysms (IAs) are acquired cerebrovascular abnormalities characterized by localized dilation and wall thinning in intracranial arteries, possibly leading to subarachnoid hemorrhage and severe outcome in case of rupture. Here, we identified one rare nonsense variant (c.1378A>T) in the last exon of ANGPTL6 (Angiopoietin-Like 6)-which encodes a circulating pro-angiogenic factor mainly secreted from the liver-shared by the four tested affected members of a large pedigree with multiple IA-affected case subjects...
January 4, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29299702/robot-life-simulation-and-participation-in-the-study-of-evolution-and-social-behavior
#10
Christopher M Kelty
This paper explores the case of using robots to simulate evolution, in particular the case of Hamilton's Law. The uses of robots raises several questions that this paper seeks to address. The first concerns the role of the robots in biological research: do they simulate something (life, evolution, sociality) or do they participate in something? The second question concerns the physicality of the robots: what difference does embodiment make to the role of the robot in these experiments. Thirdly, how do life, embodiment and social behavior relate in contemporary biology and why is it possible for robots to illuminate this relation? These questions are provoked by a strange similarity that has not been noted before: between the problem of simulation in philosophy of science, and Deleuze's reading of Plato on the relationship of ideas, copies and simulacra...
January 3, 2018: History and Philosophy of the Life Sciences
https://www.readbyqxmd.com/read/29289460/risk-management-for-surgical-energy-driven-devices-used-in-the-operating-room
#11
F Borie, M Mathonnet, A Deleuze, B Millat, J-F Gravié, H Johanet, J-P Lesage, J Gugenheim
Complications related to energy sources in the operating room are not well-recognized or published, despite occasionally dramatic consequences for the patient and the responsible surgeon. The goal of this study was to evaluate the risks and consequences related to use of energy sources in the operating room. PATIENTS AND METHODS: Between 2009 and 2015, 876 adverse events related to health care (AERHC) linked to energy sources in the operating room were declared in the French experience feedback data base "REX"...
December 27, 2017: Journal of Visceral Surgery
https://www.readbyqxmd.com/read/29261730/acnviewer-comprehensive-genome-wide-visualization-of-absolute-copy-number-and-copy-neutral-variations
#12
Victor Renault, Jörg Tost, Fabien Pichon, Shu-Fang Wang-Renault, Eric Letouzé, Sandrine Imbeaud, Jessica Zucman-Rossi, Jean-François Deleuze, Alexandre How-Kit
MOTIVATION: Copy number variations (CNV) include net gains or losses of part or whole chromosomal regions. They differ from copy neutral loss of heterozygosity (cn-LOH) events which do not induce any net change in the copy number and are often associated with uniparental disomy. These phenomena have long been reported to be associated with diseases and particularly in cancer. Losses/gains of genomic regions are often correlated with lower/higher gene expression. On the other hand, loss of heterozygosity (LOH) and cn-LOH are common events in cancer and may be associated with the loss of a functional tumor suppressor gene...
2017: PloS One
https://www.readbyqxmd.com/read/29234056/identification-and-characterization-of-two-functional-variants-in-the-human-longevity-gene-foxo3
#13
Friederike Flachsbart, Janina Dose, Liljana Gentschew, Claudia Geismann, Amke Caliebe, Carolin Knecht, Marianne Nygaard, Nandini Badarinarayan, Abdou ElSharawy, Sandra May, Anne Luzius, Guillermo G Torres, Marlene Jentzsch, Michael Forster, Robert Häesler, Kathrin Pallauf, Wolfgang Lieb, Céline Derbois, Pilar Galan, Dmitriy Drichel, Alexander Arlt, Andreas Till, Ben Krause-Kyora, Gerald Rimbach, Hélène Blanché, Jean-François Deleuze, Lene Christiansen, Kaare Christensen, Michael Nothnagel, Philip Rosenstiel, Stefan Schreiber, Andre Franke, Susanne Sebens, Almut Nebel
FOXO3 is consistently annotated as a human longevity gene. However, functional variants and underlying mechanisms for the association remain unknown. Here, we perform resequencing of the FOXO3 locus and single-nucleotide variant (SNV) genotyping in three European populations. We find two FOXO3 SNVs, rs12206094 and rs4946935, to be most significantly associated with longevity and further characterize them functionally. We experimentally validate the in silico predicted allele-dependent binding of transcription factors (CTCF, SRF) to the SNVs...
December 12, 2017: Nature Communications
https://www.readbyqxmd.com/read/29227006/major-improvement-in-the-detection-of-microsatellite-instability-in-colorectal-cancer-using-hsp110-t17-e-ice-cold-pcr
#14
Alexandre How-Kit, Antoine Daunay, Olivier Buhard, Clément Meiller, Mourad Sahbatou, Ada Collura, Alex Duval, Jean-François Deleuze
Every colorectal cancer (CRC) patient should be tested for microsatellite instability (MSI) to screen for Lynch syndrome. Evaluation of MSI status involves screening tumor DNA for the presence of somatic deletions in DNA repeats using PCR followed by fragment analysis. While this method may lack sensitivity due to the presence of a high level of germline DNA, which frequently contaminates the core of primary colon tumors, no other method developed to date is capable of modifying the standard PCR protocol to achieve improvement of MSI detection...
December 11, 2017: Human Mutation
https://www.readbyqxmd.com/read/29224140/whole-genome-bisulfite-sequencing-using-the-ovation%C3%A2-ultralow-methyl-seq-protocol
#15
Christian Daviaud, Victor Renault, Florence Mauger, Jean-François Deleuze, Jörg Tost
The analysis of genome-wide epigenomic alterations including DNA methylation has become a subject of intensive research for many complex diseases. Whole-genome bisulfite sequencing (WGBS) using next-generation sequencing technologies can be considered the gold standard for a comprehensive and quantitative analysis of cytosine methylation throughout the genome. Several approaches including tagmentation- and post bisulfite adaptor tagging (PBAT)-based WGBS have been devised. Here, we provide a detailed protocol based on a commercial kit for the preparation of libraries for WGBS from limited amounts of input DNA (50-100 ng) using the classical approach of WGBS by ligation of methylated adaptors to the fragmented DNA prior to bisulfite conversion...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29148134/in-vivo-validation-of-a-less-invasive-gastrostimulator
#16
Laurent Lonys, Anne Vanhoestenberghe, Vincent Huberty, Martin Hiernaux, Nicolas Cauche, Nicolas Julémont, Adrien Debelle, François Huberland, Vicente Acuña, Carmen Godfraind, Jacques Devière, Alain Delchambre, Pierre Mathys, Stefan Deleuze, Antoine Nonclercq
Gastrointestinal stimulator implants have recently shown promising results in helping obese patients lose weight. However, to place the implant, the patient currently needs to undergo an invasive surgical procedure. We report a less invasive procedure to stimulate the stomach with a gastrostimulator. After attempting fully endoscopic implantation, we more recently focused on a single incision percutaneous procedure. In both cases, the challenges in electronic design of the implant are largely similar. This article covers the work achieved to meet these and details the in vivo validation of a gastrostimulator aimed to be endoscopically placed and anchored to the stomach...
November 2017: Artificial Organs
https://www.readbyqxmd.com/read/29143430/power-discourse-and-resistance-poststructuralist-influences-in-nursing
#17
Dave Holmes, Marilou Gagnon
Based on our respective research programs (psychiatry, forensic psychiatry, public health, HIV/AIDS, harm reduction) this article aims to use purposely non-conventional means to present the substantial contribution of poststructuralist perspectives to knowledge development in nursing science in general and in our current research in particular. More specifically, we call on the work of Michel Foucault and Deleuze & Guattari to politicize nursing science using examples from our empirical research programs with marginal and often highly marginalized populations...
November 15, 2017: Nursing Philosophy: An International Journal for Healthcare Professionals
https://www.readbyqxmd.com/read/29130328/established-risk-factors-for-addiction-fail-to-discriminate-between-healthy-gamers-and-gamers-endorsing-dsm-5-internet-gaming-disorder
#18
Jory Deleuze, Filip Nuyens, Lucien Rochat, Stéphane Rothen, Pierre Maurage, Joël Billieux
Background and aims The DSM-5 includes criteria for diagnosing Internet gaming disorder (IGD) that are adapted from substance abuse and widely used in research and clinical contexts, although evidence supporting their validity remains scarce. This study compared online gamers who do or do not endorse IGD criteria regarding self-control-related abilities (impulsivity, inhibitory control, and decision-making), considered the hallmarks of addictive behaviors. Method A double approach was adopted to distinguish pathological from recreational gamers: The first is the classic DSM-5 approach (≥5 criteria required to endorse the IGD diagnosis), and the second consists in using latent class analysis (LCA) for IGD criteria to distinguish gamers' subgroups...
November 13, 2017: Journal of Behavioral Addictions
https://www.readbyqxmd.com/read/29128857/emotionally-laden-impulsivity-interacts-with-affect-in-predicting-addictive-use-of-online-sexual-activity-in-men
#19
Aline Wéry, Jory Deleuze, Natale Canale, Joël Billieux
The interest in studying addictive use of online sexual activities (OSA) has grown sharply over the last decade. Despite the burgeoning number of studies conceptualizing the excessive use of OSA as an addictive disorder, few have tested its relations to impulsivity, which is known to constitute a hallmark of addictive behaviors. To address this missing gap in the literature, we tested the relationships between addictive OSA use, impulsivity traits, and affect among a convenience sample of men (N=182; age, M=29...
October 16, 2017: Comprehensive Psychiatry
https://www.readbyqxmd.com/read/29111492/liquid-chromatography-electrospray-ionization-tandem-mass-spectrometry-method-for-quantitative-estimation-of-new-imiqualine-leads-with-potent-anticancer-activities-in-rat-and-mouse-plasma-application-to-a-pharmacokinetic-study-in-mice
#20
Adrien Chouchou, Bénédicte Marion, Christine Enjalbal, Céline Roques, Pierre Cuq, Pierre-Antoine Bonnet, Françoise M M Bressolle-Gomeni, Carine Deleuze-Masquéfa
Imidazoquinoxaline derivatives (imiqualines) are a new series of anticancer compounds. Two lead compounds (EAPB0203 and EAPB0503) with remarkable in vitro and in vivo activity on melanoma and T-cell lymphomas have been previously identified. The modulation of the chemical structure of the most active compound, EAPB0503, has led to the synthesis of two compounds, EAPB02302 and EAPB02303, 7 and 40 times more active than EAPB0503 against A375 human melanoma cancer cell line, respectively. The aim of this study was to develop and validate a sensitive and accurate liquid chromatography-electrospray ionization-tandem mass spectrometry method to simultaneously quantify EAPB02303 and its potential active metabolite, EAPB02302, in rat and mouse plasma...
October 24, 2017: Journal of Pharmaceutical and Biomedical Analysis
keyword
keyword
19737
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"