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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
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.
October 17, 2016: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
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...
September 28, 2016: American Journal of Human Genetics
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...
October 6, 2016: Nursing Philosophy: An International Journal for Healthcare Professionals
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...
October 3, 2016: Nature Genetics
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
Thomas Osborne
This paper addresses the remarkable longevity (in spite of numerous 'refutations') of the idea of vitalism in the biological sciences and beyond. If there is to be a renewed vitalism today, however, we need to ask - on what kind of original conception of life should it be based? This paper argues that recent invocations of a generalized, processual variety of vitalism in the social sciences and humanities above all, however exciting in their scope, miss much of the basic originality - and interest - of the vitalist perspective itself...
2016: Biosemiotics
Stéphanie Bauché, Seana O'Regan, Yoshiteru Azuma, Fanny Laffargue, Grace McMacken, Damien Sternberg, Guy Brochier, Céline Buon, Nassima Bouzidi, Ana Topf, Emmanuelle Lacène, Ganaelle Remerand, Anne-Marie Beaufrere, Céline Pebrel-Richard, Julien Thevenon, Salima El Chehadeh-Djebbar, Laurence Faivre, Yannis Duffourd, Federica Ricci, Tiziana Mongini, Chiara Fiorillo, Guja Astrea, Carmen Magdalena Burloiu, Niculina Butoianu, Carmen Sandu, Laurent Servais, Gisèle Bonne, Isabelle Nelson, Isabelle Desguerre, Marie-Christine Nougues, Benoit Bœuf, Norma Romero, Jocelyn Laporte, Anne Boland, Doris Lechner, Jean-François Deleuze, Bertrand Fontaine, Laure Strochlic, Hanns Lochmuller, Bruno Eymard, Michèle Mayer, Sophie Nicole
The neuromuscular junction (NMJ) is one of the best-studied cholinergic synapses. Inherited defects of peripheral neurotransmission result in congenital myasthenic syndromes (CMSs), a clinically and genetically heterogeneous group of rare diseases with fluctuating fatigable muscle weakness as the clinical hallmark. Whole-exome sequencing and Sanger sequencing in six unrelated families identified compound heterozygous and homozygous mutations in SLC5A7 encoding the presynaptic sodium-dependent high-affinity choline transporter 1 (CHT), which is known to be mutated in one dominant form of distal motor neuronopathy (DHMN7A)...
September 1, 2016: American Journal of Human Genetics
Jean Deleuze
No abstract text is available yet for this article.
June 2016: La Revue du Praticien
Zoltan Simandi, Attila Horvath, Lyndsey C Wright, Ixchelt Cuaranta-Monroy, Isabella De Luca, Katalin Karolyi, Sascha Sauer, Jean-Francois Deleuze, Lorraine J Gudas, Shaun M Cowley, Laszlo Nagy
Cell type specification relies on the capacity of undifferentiated cells to properly respond to specific differentiation-inducing signals. Using genomic approaches along with loss- and gain-of-function genetic models, we identified OCT4-dependent mechanisms that provide embryonic stem cells with the means to customize their response to external cues. OCT4 binds a large set of low-accessible genomic regions. At these sites, OCT4 is required for proper enhancer and gene activation by recruiting co-regulators and RAR:RXR or β-catenin, suggesting an unexpected collaboration between the lineage-determining transcription factor and these differentiation-initiating, signal-dependent transcription factors...
August 18, 2016: Molecular Cell
Marilou Gagnon, Dave Holmes
Each of the antiretroviral drugs that are currently used to stop the progression of HIV infection causes its own specific side effects. Despite the expansion, multiplication, and simplification of treatment options over the past decade, side effects continue to affect people living with HIV. Yet, we see a clear disconnect between the way side effects are normalized, routinized, and framed in clinical practice and the way they are experienced by people living with HIV. This paper builds on the premise that new approaches are needed to understand side effects in a manner that is more reflective of the subjective accounts of people living with HIV...
October 2016: Nursing Philosophy: An International Journal for Healthcare Professionals
Anthony Ferrari, Anne Vincent-Salomon, Xavier Pivot, Anne-Sophie Sertier, Emilie Thomas, Laurie Tonon, Sandrine Boyault, Eskeatnaf Mulugeta, Isabelle Treilleux, Gaëtan MacGrogan, Laurent Arnould, Janice Kielbassa, Vincent Le Texier, Hélène Blanché, Jean-François Deleuze, Jocelyne Jacquemier, Marie-Christine Mathieu, Frédérique Penault-Llorca, Frédéric Bibeau, Odette Mariani, Cécile Mannina, Jean-Yves Pierga, Olivier Trédan, Thomas Bachelot, Hervé Bonnefoi, Gilles Romieu, Pierre Fumoleau, Suzette Delaloge, Maria Rios, Jean-Marc Ferrero, Carole Tarpin, Catherine Bouteille, Fabien Calvo, Ivo Glynne Gut, Marta Gut, Sancha Martin, Serena Nik-Zainal, Michael R Stratton, Iris Pauporté, Pierre Saintigny, Daniel Birnbaum, Alain Viari, Gilles Thomas
HER2-positive breast cancer has long proven to be a clinically distinct class of breast cancers for which several targeted therapies are now available. However, resistance to the treatment associated with specific gene expressions or mutations has been observed, revealing the underlying diversity of these cancers. Therefore, understanding the full extent of the HER2-positive disease heterogeneity still remains challenging. Here we carry out an in-depth genomic characterization of 64 HER2-positive breast tumour genomes that exhibit four subgroups, based on the expression data, with distinctive genomic features in terms of somatic mutations, copy-number changes or structural variations...
2016: Nature Communications
George Huntington
No abstract text is available yet for this article.
July 2016: British Journal of Psychiatry: the Journal of Mental Science
Rodrigo Diego, Cécile Douet, Fabrice Reigner, Thierry Blard, Juliette Cognié, Stefan Deleuze, Ghylène Goudet
Transvaginal ultrasound-guided follicular punctures are widely used in the mare for diagnosis, research, and commercial applications. The objective of our study was to determine their influence on pain, stress, and well-being in the mare, by evaluating heart rate, breath rate, facial expression changes, and salivary cortisol before, during, and after puncture. For this experiment, 21 pony mares were used. Transvaginal ultrasound-guided aspirations were performed on 11 mares. After injections for sedation, analgesia, and antispasmodia, the follicles from both ovaries were aspirated with a needle introduced through the vagina wall into the ovary...
October 15, 2016: Theriogenology
Charlotte Deleuze, John R Huguenard
The thalamic reticular nucleus (nRt), composed of GABAergic cells providing inhibition of relay neurons in the dorsal thalamus, receives excitation from the neocortex and thalamus. The two excitatory pathways promoting feedback or feedforward inhibition of thalamocortical neurons contribute to sensory processing and rhythm generation. While synaptic inhibition within the nRt has been carefully characterized, little is known regarding the biophysics of synaptic excitation. To characterize the functional properties of thalamocortical and corticothalamic connections to the nRt, we recorded minimal electrically evoked excitatory postsynaptic currents from nRt cells in vitro...
September 1, 2016: Journal of Neurophysiology
Stéphanie David, Joana Ferreira, Olivier Quenez, Anne Rovelet-Lecrux, Anne-Claire Richard, Marc Vérin, Snejana Jurici, Isabelle Le Ber, Anne Boland, Jean-François Deleuze, Thierry Frebourg, João Ricardo Mendes de Oliveira, Didier Hannequin, Dominique Campion, Gaël Nicolas
Primary brain calcification (PBC) is a dominantly inherited calcifying disorder of the brain. SLC20A2 loss-of-function variants account for the majority of families. Only one genomic deletion encompassing SLC20A2 and six other genes has been reported. We performed whole-exome sequencing (WES) in 24 unrelated French patients with PBC, negatively screened for sequence variant in the known genes SLC20A2, PDGFB, PDGFRB and XPR1. We used the CANOES tool to detect copy number variations (CNVs). We detected two deletions of exon 2 of SLC20A2 in two unrelated patients, which segregated with PBC in one family...
June 1, 2016: European Journal of Human Genetics: EJHG
José Oliveira, Rémi Kazma, Edith Le Floch, Meriem Bennabi, Nora Hamdani, Djaouida Bengoufa, Mehdi Dahoun, Céline Manier, Frank Bellivier, Rajagopal Krishnamoorthy, Jean-François Deleuze, Robert Yolken, Marion Leboyer, Ryad Tamouza
BACKGROUND: Genetic vulnerability to environmental stressors is yet to be clarified in bipolar disorder (BD), a complex multisystem disorder in which immune dysfunction and infectious insults seem to play a major role in the pathophysiology. Association between pattern-recognition receptor coding genes and BD had been previously reported. However, potential interactions with history of pathogen exposure are yet to be explored. METHODS: 138 BD patients and 167 healthy controls were tested for serostatus of Toxoplasma gondii, CMV, HSV-1 and HSV-2 and genotyped for TLR2 (rs4696480 and rs3804099), TLR4 (rs1927914 and rs11536891) and NOD2 (rs2066842) polymorphisms (SNPs)...
December 2016: International Journal of Bipolar Disorders
Filip Nuyens, Jory Deleuze, Pierre Maurage, Mark D Griffiths, Daria J Kuss, Joël Billieux
Background and aims Multiplayer Online Battle Arena (MOBA) games have become the most popular type of video games played worldwide, superseding the playing of Massively Multiplayer Online Role-Playing Games and First-Person Shooter games. However, empirical studies focusing on the use and abuse of MOBA games are still very limited, particularly regarding impulsivity, which is an indicator of addictive states but has not yet been explored in MOBA games. In this context, the objective of the present study is to explore the associations between impulsivity and symptoms of addictive use of MOBA games in a sample of highly involved League of Legends (LoL, currently the most popular MOBA game) gamers...
June 2016: Journal of Behavioral Addictions
Y Zerlaut, B Teleńczuk, C Deleuze, T Bal, G Ouanounou, A Destexhe
KEY POINTS: We recreated in vitro the fluctuation-driven regime observed at the soma during asynchronous network activity in vivo and we studied the firing rate response as a function of the properties of the membrane potential fluctuations. We provide a simple analytical template that captures the firing response of both pyramidal neurons and various theoretical models. We found a strong heterogeneity in the firing rate response of layer V pyramidal neurons: in particular, individual neurons differ not only in their mean excitability level, but also in their sensitivity to fluctuations...
July 1, 2016: Journal of Physiology
Robbie Duschinsky, Monica Greco, Judith Solomon
Research on attachment is widely regarded in sociology and feminist scholarship as politically conservative - oriented by a concern to police families, pathologize mothers and emphasize psychological at the expense of socio-economic factors. These critiques have presented attachment theory as constructing biological imperatives to naturalize contingent, social demands. We propose that a more effective critique of the politically conservative uses of attachment theory is offered by engaging with the 'attachment system' at the level of ontology...
December 2015: Theory, Culture & Society
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