Search Results - "Jean-Francois Deleuze"

The Transcription Factor STAT6 Mediates Direct Repression of Inflammatory Enhancers and Limits Activation of Alternatively Polarized Macrophages by Czimmerer, Zsolt, Daniel, Bence, Horvath, Attila, Rückerl, Dominik, Nagy, Gergely, Kiss, Mate, Peloquin, Matthew, Budai, Marietta M., Cuaranta-Monroy, Ixchelt, Simandi, Zoltan, Steiner, Laszlo, Nagy, Bela, Poliska, Szilard, Banko, Csaba, Bacso, Zsolt, Schulman, Ira G., Sauer, Sascha, Deleuze, Jean-Francois, Allen, Judith E., Benko, Szilvia, Nagy, Laszlo

“…The molecular basis of signal-dependent transcriptional activation has been extensively studied in macrophage polarization, but our understanding remains…”
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Association of Self-reported COVID-19 Infection and SARS-CoV-2 Serology Test Results With Persistent Physical Symptoms Among French Adults During the COVID-19 Pandemic by Matta, Joane, Wiernik, Emmanuel, Robineau, Olivier, Carrat, Fabrice, Touvier, Mathilde, Severi, Gianluca, de Lamballerie, Xavier, Blanché, Hélène, Deleuze, Jean-François, Gouraud, Clément, Hoertel, Nicolas, Ranque, Brigitte, Goldberg, Marcel, Zins, Marie, Lemogne, Cédric

“…After an infection by SARS-CoV-2, many patients present with persistent physical symptoms that may impair their quality of life. Beliefs regarding the causes…”
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PIntMF: Penalized Integrative Matrix Factorization method for multi-omics data by Pierre-Jean, Morgane, Mauger, Florence, Deleuze, Jean-François, Le Floch, Edith

“…Abstract Motivation It is more and more common to perform multi-omics analyses to explore the genome at diverse levels and not only at a single level. Through…”
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The importance of naturally attenuated SARS‐CoV‐2in the fight against COVID‐19 by Armengaud, Jean, Delaunay‐Moisan, Agnès, Thuret, Jean‐Yves, Anken, Eelco, Acosta‐Alvear, Diego, Aragón, Tomás, Arias, Carolina, Blondel, Marc, Braakman, Ineke, Collet, Jean‐François, Courcol, René, Danchin, Antoine, Deleuze, Jean‐François, Lavigne, Jean‐Philippe, Lucas, Sophie, Michiels, Thomas, Moore, Edward R. B., Nixon‐Abell, Jonathon, Rossello‐Mora, Ramon, Shi, Zheng‐Li, Siccardi, Antonio G., Sitia, Roberto, Tillett, Daniel, Timmis, Kenneth N., Toledano, Michel B., Sluijs, Peter, Vicenzi, Elisa

“…The current SARS‐CoV‐2 pandemic is wreaking havoc throughout the world and has rapidly become a global health emergency. A central question concerning COVID‐19…”
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Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress by Kröll‐Hermi, Ariane, Ebstein, Frédéric, Stoetzel, Corinne, Geoffroy, Véronique, Schaefer, Elise, Scheidecker, Sophie, Bär, Séverine, Takamiya, Masanari, Kawakami, Koichi, Zieba, Barbara A, Studer, Fouzia, Pelletier, Valerie, Eyermann, Carine, Speeg‐Schatz, Claude, Laugel, Vincent, Lipsker, Dan, Sandron, Florian, McGinn, Steven, Boland, Anne, Deleuze, Jean‐François, Kuhn, Lauriane, Chicher, Johana, Hammann, Philippe, Friant, Sylvie, Etard, Christelle, Krüger, Elke, Muller, Jean, Strähle, Uwe, Dollfus, Hélène

“…The ubiquitin–proteasome system degrades ubiquitin‐modified proteins to maintain protein homeostasis and to control signalling. Whole‐genome sequencing of…”
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Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds by Arandel, Ludovic, Polay Espinoza, 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, Arnaud F, 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…”
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Strong selection during the last millennium for African ancestry in the admixed population of Madagascar by Pierron, Denis, Heiske, Margit, Razafindrazaka, Harilanto, Pereda-loth, Veronica, Sanchez, Jazmin, Alva, Omar, Arachiche, Amal, Boland, Anne, Olaso, Robert, Deleuze, Jean-Francois, Ricaut, Francois-Xavier, Rakotoarisoa, Jean-Aimé, Radimilahy, Chantal, Stoneking, Mark, Letellier, Thierry

“…While admixed populations offer a unique opportunity to detect selection, the admixture in most of the studied populations occurred too recently to produce…”
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POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4 by Sanchez, Elodie, Laplace-Builhé, Béryl, Mau-Them, Frédéric Tran, Richard, Eric, Goldenberg, Alice, Toler, Tomi L., Guignard, Thomas, Gatinois, Vincent, Vincent, Marie, Blanchet, Catherine, Boland, Anne, Bihoreau, Marie Thérèse, Deleuze, Jean-Francois, Olaso, Robert, Nephi, Walton, Lüdecke, Hermann-Josef, Verheij, Joke, Moreau-Lenoir, Florence, Denoyelle, Françoise, Rivière, Jean-Baptiste, Laplanche, Jean-Louis, Willing, Marcia, Captier, Guillaume, Apparailly, Florence, Wieczorek, Dagmar, Collet, Corinne, Djouad, Farida, Geneviève, David

“…Treacher Collins syndrome (TCS) is a rare autosomal dominant mandibulofacial dysostosis, with a prevalence of 0.2–1/10,000. Features include bilateral and…”
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RXR heterodimers orchestrate transcriptional control of neurogenesis and cell fate specification by Simandi, Zoltan, Horvath, Attila, Cuaranta-Monroy, Ixchelt, Sauer, Sascha, Deleuze, Jean-Francois, Nagy, Laszlo

“…Retinoid X Receptors (RXRs) are unique and enigmatic members of the nuclear receptor (NR) family with extensive and complex biological functions in cellular…”
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Global genome decompaction leads to stochastic activation of gene expression as a first step toward fate commitment in human hematopoietic cells by Parmentier, Romuald, Racine, Laëtitia, Moussy, Alice, Chantalat, Sophie, Sudharshan, Ravi, Papili Gao, Nan, Stockholm, Daniel, Corre, Guillaume, Fourel, Geneviève, Deleuze, Jean-François, Gunawan, Rudiyanto, Paldi, Andras

“…When human cord blood–derived CD34+ cells are induced to differentiate, they undergo rapid and dynamic morphological and molecular transformations that are…”
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A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome by Delvallée, Clarisse, Nicaise, Samuel, Antin, Manuela, Leuvrey, Anne‐Sophie, Nourisson, Elsa, Leitch, Carmen C., Kellaris, Georgios, Stoetzel, Corinne, Geoffroy, Véronique, Scheidecker, Sophie, Keren, Boris, Depienne, Christel, Klar, Joakim, Dahl, Niklas, Deleuze, Jean‐François, Génin, Emmanuelle, Redon, Richard, Demurger, Florence, Devriendt, Koenraad, Mathieu‐Dramard, Michèle, Poitou‐Bernert, Christine, Odent, Sylvie, Katsanis, Nicholas, Mandel, Jean‐Louis, Davis, Erica E., Dollfus, Hélène, Muller, Jean

“…Bardet‐Biedl syndrome (BBS) is a ciliopathy characterized by retinitis pigmentosa, obesity, polydactyly, cognitive impairment and renal failure. Pathogenic…”
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Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls by Bellenguez, Céline, Charbonnier, Camille, Grenier-Boley, Benjamin, Quenez, Olivier, Le Guennec, Kilan, Nicolas, Gaël, Chauhan, Ganesh, Wallon, David, Rousseau, Stéphane, Richard, Anne Claire, Boland, Anne, Bourque, Guillaume, Munter, Hans Markus, Olaso, Robert, Meyer, Vincent, Rollin-Sillaire, Adeline, Pasquier, Florence, Letenneur, Luc, Redon, Richard, Dartigues, Jean-François, Tzourio, Christophe, Frebourg, Thierry, Lathrop, Mark, Deleuze, Jean-François, Hannequin, Didier, Genin, Emmanuelle, Amouyel, Philippe, Debette, Stéphanie, Lambert, Jean-Charles, Campion, Dominique, Hannequin, Didier, Campion, Dominique, Wallon, David, Martinaud, Olivier, Zarea, Aline, Nicolas, Gaël, Rollin-Sillaire, Adeline, Bombois, Stéphanie, Mackowiak, Marie-Anne, Deramecourt, Vincent, Pasquier, Florence, Michon, Agnès, Le Ber, Isabelle, Dubois, Bruno, Godefroy, Olivier, Etcharry-Bouyx, Frédérique, Chauviré, Valérie, Chamard, Ludivine, Berger, Eric, Magnin, Eloi, Dartigues, Jean-Francois, Auriacombe, Sophie, Tison, François, Sayette, Vincent de la, Castan, Dominique, Dionet, Elsa, Sellal, Francois, Rouaud, Olivier, Thauvin, Christel, Moreaud, Olivier, Sauvée, Mathilde, Formaglio, Maïté, Mollion, Hélène, Roullet-Solignac, Isabelle, Vighetto, Alain, Croisile, Bernard, Didic, Mira, Félician, Olivier, Koric, Lejla, Ceccaldi, Mathieu, Gabelle, Audrey, Marelli, Cecilia, Labauge, Pierre, Jonveaux, Thérèse, Vercelletto, Martine, Boutoleau-Bretonnière, Claire, Castelnovo, Giovanni, Paquet, Claire, Dumurgier, Julien, Hugon, Jacques, De Boisgueheneuc, Foucauld, Belliard, Serge, Bakchine, Serge, Sarazin, Marie, Barrellon, Marie-Odile, Laurent, Bernard, Blanc, Frédéric, Pariente, Jérémie, Jurici, Snejana

“…We performed whole-exome and whole-genome sequencing in 927 late-onset Alzheimer disease (LOAD) cases, 852 early-onset AD (EOAD) cases, and 1273 controls from…”
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Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients by Coursimault, Juliette, Cassinari, Kévin, Lecoquierre, François, Quenez, Olivier, Coutant, Sophie, Derambure, Céline, Vezain, Myriam, Drouot, Nathalie, Vera, Gabriella, Schaefer, Elise, Philippe, Anaïs, Doray, Bérénice, Lambert, Laëtitia, Ghoumid, Jamal, Smol, Thomas, Rama, Mélanie, Legendre, Marine, Lacombe, Didier, Fergelot, Patricia, Olaso, Robert, Boland, Anne, Deleuze, Jean‐François, Goldenberg, Alice, Saugier‐Veber, Pascale, Nicolas, Gaël

“…Cornelia de Lange syndrome (CdLS; MIM# 122470) is a rare developmental disorder. Pathogenic variants in 5 genes explain approximately 50% cases, leaving the…”
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Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element by Cassinari, Kévin, Rovelet‐Lecrux, Anne, Tury, Sandrine, Quenez, Olivier, Richard, Anne‐Claire, Charbonnier, Camille, Olaso, Robert, Boland, Anne, Deleuze, Jean‐François, Besancenot, Jean‐François, Delpont, Benoit, Pouliquen, Dorothée, Lecoquierre, François, Chambon, Pascal, Thauvin‐Robinet, Christel, Campion, Dominique, Frebourg, Thierry, Battini, Jean‐Luc, Nicolas, Gaël

“…Objective Primary familial brain calcification (PFBC) is a rare cerebral microvascular calcifying disorder with diverse neuropsychiatric expression. Five genes…”
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Systemic AA Amyloidosis Caused by Inflammatory Hepatocellular Adenoma by Calderaro, Julien, Letouzé, Eric, Bayard, Quentin, Boulai, Anais, Renault, Victor, Deleuze, Jean-François, Bestard, Oriol, Franco, Dominique, Zafrani, Elie-Serge, Nault, Jean-Charles, Moutschen, Michel, Zucman-Rossi, Jessica

“…A woman presented with AA amyloidosis that was found to be caused by a genetic lesion in an inflammatory hepatocellular adenoma that led to overproduction of…”
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Multiethnic genome‐wide association study of differentiated thyroid cancer in the EPITHYR consortium by Truong, Thérèse, Lesueur, Fabienne, Sugier, Pierre‐Emmanuel, Guibon, Julie, Xhaard, Constance, Karimi, Mojgan, Kulkarni, Om, Lucotte, Elise A., Bacq‐Daian, Delphine, Boland‐Auge, Anne, Mulot, Claire, Laurent‐Puig, Pierre, Schvartz, Claire, Guizard, Anne‐Valérie, Ren, Yan, Adjadj, Elisabeth, Rachédi, Frédérique, Borson‐Chazot, Francoise, Ortiz, Rosa Maria, Lence‐Anta, Juan J., Pereda, Celia María, Comiskey, Daniel F., He, Huiling, Liyanarachchi, Sandya, Chapelle, Albert, Elisei, Rossella, Gemignani, Federica, Thomsen, Hauke, Forsti, Asta, Herzig, Anthony F., Leutenegger, Anne‐Louise, Rubino, Carole, Ostroumova, Evgenia, Kesminiene, Ausrele, Boutron‐Ruault, Marie‐Christine, Deleuze, Jean‐François, Guénel, Pascal, Vathaire, Florent

“…Incidence of differentiated thyroid carcinoma (DTC) varies considerably between ethnic groups, with particularly high incidence rates in Pacific Islanders. DTC…”
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Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy by Schartner, Vanessa, Romero, Norma B., Donkervoort, Sandra, Treves, Susan, Munot, Pinki, Pierson, Tyler Mark, Dabaj, Ivana, Malfatti, Edoardo, Zaharieva, Irina T., Zorzato, Francesco, Abath Neto, Osorio, Brochier, Guy, Lornage, Xavière, Eymard, Bruno, Taratuto, Ana Lía, Böhm, Johann, Gonorazky, Hernan, Ramos-Platt, Leigh, Feng, Lucy, Phadke, Rahul, Bharucha-Goebel, Diana X., Sumner, Charlotte Jane, Bui, Mai Thao, Lacene, Emmanuelle, Beuvin, Maud, Labasse, Clémence, Dondaine, Nicolas, Schneider, Raphael, Thompson, Julie, Boland, Anne, Deleuze, Jean-François, Matthews, Emma, Pakleza, Aleksandra Nadaj, Sewry, Caroline A., Biancalana, Valérie, Quijano-Roy, Susana, Muntoni, Francesco, Fardeau, Michel, Bönnemann, Carsten G., Laporte, Jocelyn

“…Muscle contraction upon nerve stimulation relies on excitation–contraction coupling (ECC) to promote the rapid and generalized release of calcium within…”
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OCT4 Acts as an Integrator of Pluripotency and Signal-Induced Differentiation by Simandi, Zoltan, Horvath, Attila, Wright, Lyndsey C., Cuaranta-Monroy, Ixchelt, De Luca, Isabella, Karolyi, Katalin, Sauer, Sascha, Deleuze, Jean-Francois, Gudas, Lorraine J., Cowley, Shaun M., Nagy, Laszlo

“…Cell type specification relies on the capacity of undifferentiated cells to properly respond to specific differentiation-inducing signals. Using genomic…”
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Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2 , in perisylvian polymicrogyria: a next-generation sequencing study by Mirzaa, Ghayda M, Dr, Conti, Valerio, PhD, Timms, Andrew E, PhD, Smyser, Christopher D, MD, Ahmed, Sarah, MD, Carter, Melissa, MD, Barnett, Sarah, MS, Hufnagel, Robert B, MD, Goldstein, Amy, MD, Narumi-Kishimoto, Yoko, MD, Olds, Carissa, MSc, Collins, Sarah, MS, Johnston, Kathreen, MD, Deleuze, Jean-François, PhD, Nitschké, Patrick, PhD, Friend, Kathryn, PhD, Harris, Catharine, MD, Goetsch, Allison, MS, Martin, Beth, BS, Boyle, Evan August, BS, Parrini, Elena, MD, Mei, Davide, MSLT, Tattini, Lorenzo, PhD, Slavotinek, Anne, Prof, Blair, Ed, MRCP, Barnett, Christopher, MBBS, Shendure, Jay, Prof, Chelly, Jamel, Prof, Dobyns, William B, Prof, Guerrini, Renzo, Prof

“…Summary Background Bilateral perisylvian polymicrogyria (BPP), the most common form of regional polymicrogyria, causes the congenital bilateral perisylvian…”
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Genomic landscape of human diversity across Madagascar by Pierron, Denis, Heiske, Margit, Razafindrazaka, Harilanto, Rakoto, Ignace, Rabetokotany, Nelly, Ravololomanga, Bodo, Rakotozafy, Lucien M.-A., Rakotomalala, Mireille Mialy, Razafiarivony, Michel, Rasoarifetra, Bako, Raharijesy, Miakabola Andriamampianina, Razafindralambo, Lolona, Ramilisonina, Fanony, Fulgence, Lejamble, Sendra, Thomas, Olivier, Abdallah, Ahmed Mohamed, Rocher, Christophe, Arachiche, Amal, Tonaso, Laure, Pereda-loth, Veronica, Schiavinato, Stéphanie, Brucato, Nicolas, Ricaut, Francois-Xavier, Kusuma, Pradiptajati, Sudoyo, Herawati, Ni, Shengyu, Boland, Anne, Deleuze, Jean-Francois, Beaujard, Philippe, Grange, Philippe, Adelaar, Sander, Stoneking, Mark, Rakotoarisoa, Jean-Aimé, Radimilahy, Chantal, Letellier, Thierry

“…Although situated ∼400 km from the east coast of Africa, Madagascar exhibits cultural, linguistic, and genetic traits from both Southeast Asia and Eastern…”
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