An artificial neural network approach integrating plasma proteomics and genetic data identifies PLXNA4 as a new susceptibility locus for pulmonary embolism

por Razzaq, Misbah, Iglesias, Maria Jesus, Ibrahim-Kosta, Manal, Goumidi, Louisa, Soukarieh, Omar, Proust, Carole, Roux, Maguelonne, Suchon, Pierre, Boland, Anne, Daiain, Delphine, Olaso, Robert, Havervall, Sebastian, Thalin, Charlotte, Butler, Lynn, Deleuze, Jean-François, Odeberg, Jacob, Morange, Pierre-Emmanuel, Trégouët, David-Alexandre
Publicado 2021

Monocyte transcriptomes from patients with axial spondyloarthritis reveal dysregulated monocytopoiesis and a distinct inflammatory imprint

por Karow, Fabian, Smiljanovic, Biljana, Grün, Joachim R., Poddubnyy, Denis, Proft, Fabian, Talpin, Alice, Hue, Christophe, Boland, Anne, Deleuze, Jean-François, Garchon, Henri-Jean, Ergenç, Ilkay, De Craemer, Ann-Sophie, Erben, Ulrike, Häupl, Thomas, Elewaut, Dirk, Breban, Maxime, Grützkau, Andreas, Syrbe, Uta
Publicado 2021

Excessive self-grooming, gene dysregulation and imbalance between the striosome and matrix compartments in the striatum of Shank3 mutant mice

por Ferhat, Allain-Thibeault, Verpy, Elisabeth, Biton, Anne, Forget, Benoît, De Chaumont, Fabrice, Mueller, Florian, Le Sourd, Anne-Marie, Coqueran, Sabrina, Schmitt, Julien, Rochefort, Christelle, Rondi-Reig, Laure, Leboucher, Aziliz, Boland, Anne, Fin, Bertrand, Deleuze, Jean-François, Boeckers, Tobias M., Ey, Elodie, Bourgeron, Thomas
Publicado 2023

Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds

por 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
Publicado 2017

Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study

por Binquet, Christine, Lejeune, Catherine, Faivre, Laurence, Bouctot, Marion, Asensio, Marie-Laure, Simon, Alban, Deleuze, Jean-François, Boland, Anne, Guillemin, Francis, Seror, Valérie, Delmas, Christelle, Espérou, Hélène, Duffourd, Yannis, Lyonnet, Stanislas, Odent, Sylvie, Heron, Delphine, Sanlaville, Damien, Frebourg, Thierry, Gerard, Bénédicte, Dollfus, Hélène
Publicado 2022

WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects

por Karam, Adella, Delvallée, Clarisse, Estrada-Cuzcano, Alejandro, Geoffroy, Véronique, Lamouche, Jean-Baptiste, Leuvrey, Anne-Sophie, Nourisson, Elsa, Tarabeux, Julien, Stoetzel, Corinne, Scheidecker, Sophie, Porter, Louise Frances, Génin, Emmanuelle, Redon, Richard, Sandron, Florian, Boland, Anne, Deleuze, Jean-François, Le May, Nicolas, Dollfus, Hélène, Muller, Jean
Publicado 2023

Genetic factors for differentiated thyroid cancer in French Polynesia: new candidate loci

por Zidane, Monia, Haber, Marc, Truong, Thérèse, Rachédi, Frédérique, Ory, Catherine, Chevillard, Sylvie, Blanché, Hélène, Olaso, Robert, Boland, Anne, Conte, Éric, Karimi, Mojgan, Ren, Yan, Xhaard, Constance, Souchard, Vincent, Gardon, Jacques, Taquet, Marc, Bouville, André, Deleuze, Jean-François, Drozdovitch, Vladimir, de Vathaire, Florent, Cazier, Jean-Baptiste
Publicado 2023

Papua New Guinean Genomes Reveal the Complex Settlement of North Sahul

por Brucato, Nicolas, André, Mathilde, Tsang, Roxanne, Saag, Lauri, Kariwiga, Jason, Sesuki, Kylie, Beni, Teppsy, Pomat, William, Muke, John, Meyer, Vincent, Boland, Anne, Deleuze, Jean-François, Sudoyo, Herawati, Mondal, Mayukh, Pagani, Luca, Gallego Romero, Irene, Metspalu, Mait, Cox, Murray P, Leavesley, Matthew, Ricaut, François-Xavier
Publicado 2021

The Transcription Factor STAT6 Mediates Direct Repression of Inflammatory Enhancers and Limits Activation of Alternatively Polarized Macrophages

por 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
Publicado 2018

The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD

por Gargaun, Elena, Falcone, Sestina, Solé, Guilhem, Durigneux, Julien, Urtizberea, Andoni, Cuisset, Jean Marie, Benkhelifa-Ziyyat, Sofia, Julien, Laura, Boland, Anne, Sandron, Florian, Meyer, Vincent, Deleuze, Jean François, Salgado, David, Desvignes, Jean-Pierre, Béroud, Christophe, Chessel, Anatole, Blesius, Alexia, Krahn, Martin, Levy, Nicolas, Leturcq, France, Pietri-Rouxel, France
Publicado 2021

Exome-Wide Association Study Identifies FN3KRP and PGP as New Candidate Longevity Genes

por Torres, Guillermo G, Nygaard, Marianne, Caliebe, Amke, Blanché, Hélène, Chantalat, Sophie, Galan, Pilar, Lieb, Wolfgang, Christiansen, Lene, Deleuze, Jean-François, Christensen, Kaare, Strauch, Konstantin, Müller-Nurasyid, Martina, Peters, Annette, Nöthen, Markus M, Hoffmann, Per, Flachsbart, Friederike, Schreiber, Stefan, Ellinghaus, David, Franke, Andre, Dose, Janina, Nebel, Almut
Publicado 2021

Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form‐associated genes provides new insights for molecular diagnosis and clinical management

por Goudal, Adeline, Karakachoff, Matilde, Lindenbaum, Pierre, Baron, Estelle, Bonnaud, Stéphanie, Kyndt, Florence, Arnaud, Marine, Minois, Damien, Bourcereau, Emmanuelle, Thollet, Aurélie, Deleuze, Jean‐François, Genin, Emmanuelle, Wiart, François, Pasquié, Jean‐Luc, Galand, Vincent, Sacher, Frédéric, Dina, Christian, Redon, Richard, Bezieau, Stéphane, Schott, Jean‐Jacques, Probst, Vincent, Barc, Julien
Publicado 2022

Long-lasting Symptoms After an Acute COVID-19 Infection and Factors Associated With Their Resolution

por Robineau, Olivier, Zins, Marie, Touvier, Mathilde, Wiernik, Emmanuel, Lemogne, Cedric, de Lamballerie, Xavier, Blanché, Hélène, Deleuze, Jean-François, Saba Villarroel, Paola Mariela, Dorival, Céline, Nicol, Jerome, Gomes-Rima, Roselyn, Correia, Emmanuelle, Coeuret-Pellicer, Mireille, Druesne-Pecollo, Nathalie, Esseddik, Younes, Ribet, Céline, Goldberg, Marcel, Severi, Gianluca, Carrat, Fabrice
Publicado 2022

Genetic Adaptation and Neandertal Admixture Shaped the Immune System of Human Populations

por Quach, Hélène, Rotival, Maxime, Pothlichet, Julien, Loh, Yong-Hwee Eddie, Dannemann, Michael, Zidane, Nora, Laval, Guillaume, Patin, Etienne, Harmant, Christine, Lopez, Marie, Deschamps, Matthieu, Naffakh, Nadia, Duffy, Darragh, Coen, Anja, Leroux-Roels, Geert, Clément, Frederic, Boland, Anne, Deleuze, Jean-François, Kelso, Janet, Albert, Matthew L., Quintana-Murci, Lluis
Publicado 2016

Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES

por De Ridder, Willem, Nelson, Isabelle, Asselbergh, Bob, De Paepe, Boel, Beuvin, Maud, Ben Yaou, Rabah, Masson, Cécile, Boland, Anne, Deleuze, Jean-François, Maisonobe, Thierry, Eymard, Bruno, Symoens, Sofie, Schindler, Roland, Brand, Thomas, Johnson, Katherine, Töpf, Ana, Straub, Volker, De Jonghe, Peter, De Bleecker, Jan L., Bonne, Gisèle, Baets, Jonathan
Publicado 2019

Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays

por de la Morena-Barrio, Maria Eugenia, Suchon, Pierre, Jacobsen, Eva Marie, Iversen, Nina, Miñano, Antonia, de la Morena-Barrio, Belén, Bravo-Pérez, Carlos, Padilla, Jose, Cifuentes, Rosa, Asenjo, Susana, Deleuze, Jean François, Trégouët, David Alexandre, Lozano, Maria Luisa, Vicente, Vicente, Sandset, Per Morten, Morange, Pierre Emmanuel, Corral, Javier
Publicado 2022

iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells

por Mouka, Aurélie, Arkoun, Brahim, Moison, Pauline, Drévillon, Loïc, Jarray, Rafika, Brisset, Sophie, Mayeur, Anne, Bouligand, Jérôme, Boland-Auge, Anne, Deleuze, Jean-François, Yates, Frank, Lemonnier, Thomas, Callier, Patrick, Duffourd, Yannis, Nitschke, Patrick, Ollivier, Emmanuelle, Bourdin, Arnaud, De Vos, John, Livera, Gabriel, Tachdjian, Gérard, Maouche-Chrétien, Leïla, Tosca, Lucie
Publicado 2022

Association study in three different populations between the GPR88 gene and major psychoses

por Del Zompo, Maria, Deleuze, Jean-François, Chillotti, Caterina, Cousin, Emmanuelle, Niehaus, Dana, Ebstein, Richard P, Ardau, Raffaella, Macé, Sandrine, Warnich, Louise, Mujahed, Mustafa, Severino, Giovanni, Dib, Colette, Jordaan, Esme, Murad, Ibrahim, Soubigou, Stéphane, Koen, Liezl, Bannoura, Issam, Rocher, Corinne, Laurent, Claudine, Derock, Murielle, Faucon Biguet, Nicole, Mallet, Jacques, Meloni, Rolando
Publicado 2014

Immunochip analysis identifies association of the RAD50/IL13 region with human longevity

por Flachsbart, Friederike, Ellinghaus, David, Gentschew, Liljana, Heinsen, Femke‐Anouska, Caliebe, Amke, Christiansen, Lene, Nygaard, Marianne, Christensen, Kaare, Blanché, Hélène, Deleuze, Jean‐François, Derbois, Céline, Galan, Pilar, Büning, Carsten, Brand, Stephan, Peters, Anette, Strauch, Konstantin, Müller‐Nurasyid, Martina, Hoffmann, Per, Nöthen, Markus M., Lieb, Wolfgang, Franke, Andre, Schreiber, Stefan, Nebel, Almut
Publicado 2016

Cyclin A2/E1 activation defines a hepatocellular carcinoma subclass with a rearrangement signature of replication stress

por Bayard, Quentin, Meunier, Léa, Peneau, Camille, Renault, Victor, Shinde, Jayendra, Nault, Jean-Charles, Mami, Iadh, Couchy, Gabrielle, Amaddeo, Giuliana, Tubacher, Emmanuel, Bacq, Delphine, Meyer, Vincent, La Bella, Tiziana, Debaillon-Vesque, Audrey, Bioulac-Sage, Paulette, Seror, Olivier, Blanc, Jean-Frédéric, Calderaro, Julien, Deleuze, Jean-François, Imbeaud, Sandrine, Zucman-Rossi, Jessica, Letouzé, Eric
Publicado 2018