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1. Human genetic structure in Northwest France provides new insights into West European historical demography

Author: Alves, Isabel, Giemza, Joanna, Blum, Michael G. B., Bernhardsson, Carolina, Chatel, Stéphanie, Karakachoff, Matilde, Saint Pierre, Aude, Herzig, Anthony F., Olaso, Robert, Monteil, Martial, Gallien, Véronique, Cabot, Elodie, Svensson, Emma, Bacq, Delphine, Baron, Estelle, Berthelier, Charlotte, Besse, Céline, Blanché, Hélène, Bocher, Ozvan, Boland, Anne, Bonnaud, Stéphanie, Charpentier, Eric, Dandine-Roulland, Claire, Férec, Claude, Fruchet, Christine, Lecointe, Simon, Le Floch, Edith, Ludwig, Thomas E., Marenne, Gaëlle, Meyer, Vincent, Quellery, Elisabeth, Racimo, Fernando, Rouault, Karen, Sandron, Florian, Schott, Jean-Jacques, Velo-Suarez, Lourdes, Violleau, Jade, Willerslev, Eske, Coativy, Yves, Jézéquel, Mael, Le Bris, Daniel, Nicolas, Clément, Pailler, Yvan, Goldberg, Marcel, Zins, Marie, Le Marec, Hervé, Jakobsson, Mattias, Darlu, Pierre, Génin, Emmanuelle, Deleuze, Jean-François, Redon, Richard, and Dina, Christian
Published: 2024
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2. New insights into the genetic etiology of Alzheimer’s disease and related dementias

Author: Bellenguez, Céline, Küçükali, Fahri, Jansen, Iris E, Kleineidam, Luca, Moreno-Grau, Sonia, Amin, Najaf, Naj, Adam C, Campos-Martin, Rafael, Grenier-Boley, Benjamin, Andrade, Victor, Holmans, Peter A, Boland, Anne, Damotte, Vincent, van der Lee, Sven J, Costa, Marcos R, Kuulasmaa, Teemu, Yang, Qiong, de Rojas, Itziar, Bis, Joshua C, Yaqub, Amber, Prokic, Ivana, Chapuis, Julien, Ahmad, Shahzad, Giedraitis, Vilmantas, Aarsland, Dag, Garcia-Gonzalez, Pablo, Abdelnour, Carla, Alarcón-Martín, Emilio, Alcolea, Daniel, Alegret, Montserrat, Alvarez, Ignacio, Álvarez, Victoria, Armstrong, Nicola J, Tsolaki, Anthoula, Antúnez, Carmen, Appollonio, Ildebrando, Arcaro, Marina, Archetti, Silvana, Pastor, Alfonso Arias, Arosio, Beatrice, Athanasiu, Lavinia, Bailly, Henri, Banaj, Nerisa, Baquero, Miquel, Barral, Sandra, Beiser, Alexa, Pastor, Ana Belén, Below, Jennifer E, Benchek, Penelope, Benussi, Luisa, Berr, Claudine, Besse, Céline, Bessi, Valentina, Binetti, Giuliano, Bizarro, Alessandra, Blesa, Rafael, Boada, Mercè, Boerwinkle, Eric, Borroni, Barbara, Boschi, Silvia, Bossù, Paola, Bråthen, Geir, Bressler, Jan, Bresner, Catherine, Brodaty, Henry, Brookes, Keeley J, Brusco, Luis Ignacio, Buiza-Rueda, Dolores, Bûrger, Katharina, Burholt, Vanessa, Bush, William S, Calero, Miguel, Cantwell, Laura B, Chene, Geneviève, Chung, Jaeyoon, Cuccaro, Michael L, Carracedo, Ángel, Cecchetti, Roberta, Cervera-Carles, Laura, Charbonnier, Camille, Chen, Hung-Hsin, Chillotti, Caterina, Ciccone, Simona, Claassen, Jurgen AHR, Clark, Christopher, Conti, Elisa, Corma-Gómez, Anaïs, Costantini, Emanuele, Custodero, Carlo, Daian, Delphine, Dalmasso, Maria Carolina, Daniele, Antonio, Dardiotis, Efthimios, Dartigues, Jean-François, de Deyn, Peter Paul, de Paiva Lopes, Katia, de Witte, Lot D, Debette, Stéphanie, Deckert, Jürgen, and del Ser, Teodoro
Subjects: Biochemistry and Cell Biology, Genetics, Biological Sciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Dementia, Neurodegenerative, Alzheimer's Disease, Human Genome, Prevention, Aging, Brain Disorders, Acquired Cognitive Impairment, Neurosciences, Genetic Testing, 2.1 Biological and endogenous factors, Aetiology, Neurological, Alzheimer Disease, Cognitive Dysfunction, Genome-Wide Association Study, Humans, tau Proteins, EADB, GR@ACE, DEGESCO, EADI, GERAD, Demgene, FinnGen, ADGC, CHARGE, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract: Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele.
Published: 2022

3. Mutations and variants of ONECUT1 in diabetes

Author: Philippi, Anne, Heller, Sandra, Costa, Ivan G, Senée, Valérie, Breunig, Markus, Li, Zhijian, Kwon, Gino, Russell, Ronan, Illing, Anett, Lin, Qiong, Hohwieler, Meike, Degavre, Anne, Zalloua, Pierre, Liebau, Stefan, Schuster, Michael, Krumm, Johannes, Zhang, Xi, Geusz, Ryan, Benthuysen, Jacqueline R, Wang, Allen, Chiou, Joshua, Gaulton, Kyle, Neubauer, Heike, Simon, Eric, Klein, Thomas, Wagner, Martin, Nair, Gopika, Besse, Céline, Dandine-Roulland, Claire, Olaso, Robert, Deleuze, Jean-François, Kuster, Bernhard, Hebrok, Matthias, Seufferlein, Thomas, Sander, Maike, Boehm, Bernhard O, Oswald, Franz, Nicolino, Marc, Julier, Cécile, and Kleger, Alexander
Subjects: Stem Cell Research, Autoimmune Disease, Diabetes, Clinical Research, Genetics, 2.1 Biological and endogenous factors, Aetiology, Metabolic and endocrine, Cell Differentiation, Congenital Abnormalities, Diabetes Mellitus, Type 2, Fetal Growth Retardation, Gallbladder, Hepatocyte Nuclear Factor 6, Homeobox Protein Nkx-2.2, Homeodomain Proteins, Humans, Infant, Infant, Newborn, Male, Multifactorial Inheritance, Organogenesis, Pancreas, Pancreatic Diseases, Pluripotent Stem Cells, Transcription, Genetic, Medical and Health Sciences, Immunology
Abstract: Genes involved in distinct diabetes types suggest shared disease mechanisms. Here we show that One Cut Homeobox 1 (ONECUT1) mutations cause monogenic recessive syndromic diabetes in two unrelated patients, characterized by intrauterine growth retardation, pancreas hypoplasia and gallbladder agenesis/hypoplasia, and early-onset diabetes in heterozygous relatives. Heterozygous carriers of rare coding variants of ONECUT1 define a distinctive subgroup of diabetic patients with early-onset, nonautoimmune diabetes, who respond well to diabetes treatment. In addition, common regulatory ONECUT1 variants are associated with multifactorial type 2 diabetes. Directed differentiation of human pluripotent stem cells revealed that loss of ONECUT1 impairs pancreatic progenitor formation and a subsequent endocrine program. Loss of ONECUT1 altered transcription factor binding and enhancer activity and NKX2.2/NKX6.1 expression in pancreatic progenitor cells. Collectively, we demonstrate that ONECUT1 controls a transcriptional and epigenetic machinery regulating endocrine development, involved in a spectrum of diabetes, encompassing monogenic (recessive and dominant) as well as multifactorial inheritance. Our findings highlight the broad contribution of ONECUT1 in diabetes pathogenesis, marking an important step toward precision diabetes medicine.
Published: 2021

4. Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network

Author: Denommé-Pichon, Anne-Sophie, Vitobello, Antonio, Olaso, Robert, Ziegler, Alban, Jeanne, Médéric, Tran Mau-Them, Frédéric, Couturier, Victor, Racine, Caroline, Isidor, Bertrand, Poë, Charlotte, Jouan, Thibaud, Boland, Anne, Fin, Bertrand, Bacq-Daian, Delphine, Besse, Céline, Garde, Aurore, Prost, Adeline, Garret, Philippine, Tisserant, Émilie, Delanne, Julian, Nambot, Sophie, Juven, Aurélien, Gorce, Magali, Nizon, Mathilde, Vincent, Marie, Moutton, Sébastien, Fradin, Mélanie, Lavillaureix, Alinoë, Rollier, Paul, Capri, Yline, Van-Gils, Julien, Busa, Tiffany, Sigaudy, Sabine, Pasquier, Laurent, Barth, Magalie, Bruel, Ange-Line, Flamant, Cyril, Prouteau, Clément, Bonneau, Dominique, Toutain, Annick, Chantegret, Corinne, Callier, Patrick, Philippe, Christophe, Duffourd, Yannis, Deleuze, Jean-François, Sorlin, Arthur, Faivre, Laurence, and Thauvin-Robinet, Christel
Published: 2022
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5. Papuan mitochondrial genomes and the settlement of Sahul

Author: Pedro, Nicole, Brucato, Nicolas, Fernandes, Veronica, André, Mathilde, Saag, Lauri, Pomat, William, Besse, Céline, Boland, Anne, Deleuze, Jean-François, Clarkson, Chris, Sudoyo, Herawati, Metspalu, Mait, Stoneking, Mark, Cox, Murray P., Leavesley, Matthew, Pereira, Luisa, and Ricaut, François-Xavier
Published: 2020
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6. Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility.

Author: Wessel, Jennifer, Chu, Audrey Y, Willems, Sara M, Wang, Shuai, Yaghootkar, Hanieh, Brody, Jennifer A, Dauriz, Marco, Hivert, Marie-France, Raghavan, Sridharan, Lipovich, Leonard, Hidalgo, Bertha, Fox, Keolu, Huffman, Jennifer E, An, Ping, Lu, Yingchang, Rasmussen-Torvik, Laura J, Grarup, Niels, Ehm, Margaret G, Li, Li, Baldridge, Abigail S, Stančáková, Alena, Abrol, Ravinder, Besse, Céline, Boland, Anne, Bork-Jensen, Jette, Fornage, Myriam, Freitag, Daniel F, Garcia, Melissa E, Guo, Xiuqing, Hara, Kazuo, Isaacs, Aaron, Jakobsdottir, Johanna, Lange, Leslie A, Layton, Jill C, Li, Man, Hua Zhao, Jing, Meidtner, Karina, Morrison, Alanna C, Nalls, Mike A, Peters, Marjolein J, Sabater-Lleal, Maria, Schurmann, Claudia, Silveira, Angela, Smith, Albert V, Southam, Lorraine, Stoiber, Marcus H, Strawbridge, Rona J, Taylor, Kent D, Varga, Tibor V, Allin, Kristine H, Amin, Najaf, Aponte, Jennifer L, Aung, Tin, Barbieri, Caterina, Bihlmeyer, Nathan A, Boehnke, Michael, Bombieri, Cristina, Bowden, Donald W, Burns, Sean M, Chen, Yuning, Chen, Yii-DerI, Cheng, Ching-Yu, Correa, Adolfo, Czajkowski, Jacek, Dehghan, Abbas, Ehret, Georg B, Eiriksdottir, Gudny, Escher, Stefan A, Farmaki, Aliki-Eleni, Frånberg, Mattias, Gambaro, Giovanni, Giulianini, Franco, Goddard, William A, Goel, Anuj, Gottesman, Omri, Grove, Megan L, Gustafsson, Stefan, Hai, Yang, Hallmans, Göran, Heo, Jiyoung, Hoffmann, Per, Ikram, Mohammad K, Jensen, Richard A, Jørgensen, Marit E, Jørgensen, Torben, Karaleftheri, Maria, Khor, Chiea C, Kirkpatrick, Andrea, Kraja, Aldi T, Kuusisto, Johanna, Lange, Ethan M, Lee, IT, Lee, Wen-Jane, Leong, Aaron, Liao, Jiemin, Liu, Chunyu, Liu, Yongmei, Lindgren, Cecilia M, Linneberg, Allan, and Malerba, Giovanni
Subjects: EPIC-InterAct Consortium, Humans, Diabetes Mellitus, Type 2, Genetic Predisposition to Disease, Insulin, Glucose-6-Phosphatase, Blood Glucose, Oligonucleotide Array Sequence Analysis, Fasting, Polymorphism, Single Nucleotide, African Continental Ancestry Group, European Continental Ancestry Group, Genetic Variation, Genetic Loci, Genetic Association Studies, Mutation Rate, Exome, Glucagon-Like Peptide-1 Receptor, Diabetes Mellitus, Type 2, Polymorphism, Single Nucleotide, Diabetes, Genetics, Nutrition, Clinical Research, Prevention, Human Genome, 2.1 Biological and endogenous factors, Metabolic and Endocrine
Abstract: Fasting glucose and insulin are intermediate traits for type 2 diabetes. Here we explore the role of coding variation on these traits by analysis of variants on the HumanExome BeadChip in 60,564 non-diabetic individuals and in 16,491 T2D cases and 81,877 controls. We identify a novel association of a low-frequency nonsynonymous SNV in GLP1R (A316T; rs10305492; MAF=1.4%) with lower FG (β=-0.09±0.01 mmol l(-1), P=3.4 × 10(-12)), T2D risk (OR[95%CI]=0.86[0.76-0.96], P=0.010), early insulin secretion (β=-0.07±0.035 pmolinsulin mmolglucose(-1), P=0.048), but higher 2-h glucose (β=0.16±0.05 mmol l(-1), P=4.3 × 10(-4)). We identify a gene-based association with FG at G6PC2 (pSKAT=6.8 × 10(-6)) driven by four rare protein-coding SNVs (H177Y, Y207S, R283X and S324P). We identify rs651007 (MAF=20%) in the first intron of ABO at the putative promoter of an antisense lncRNA, associating with higher FG (β=0.02±0.004 mmol l(-1), P=1.3 × 10(-8)). Our approach identifies novel coding variant associations and extends the allelic spectrum of variation underlying diabetes-related quantitative traits and T2D susceptibility.
Published: 2015

7. A Case-Only Genome-Wide Interaction Study of Smoking and Bladder Cancer Risk: Results from the COBLAnCE Cohort

Author: Karimi, Maryam, primary, Mendez-Pineda, Sebastian, additional, Blanché, Hélène, additional, Boland, Anne, additional, Besse, Céline, additional, Deleuze, Jean-François, additional, Meng, Xiang-Yu, additional, Sirab, Nanor, additional, Groussard, Karine, additional, Lebret, Thierry, additional, Bonastre, Julia, additional, Allory, Yves, additional, Radvanyi, François, additional, Benhamou, Simone, additional, and Michiels, Stefan, additional
Published: 2023
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8. Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma

Author: Machiela, Mitchell J., Hofmann, Jonathan N., Carreras-Torres, Robert, Brown, Kevin M., Johansson, Mattias, Wang, Zhaoming, Foll, Matthieu, Li, Peng, Rothman, Nathaniel, Savage, Sharon A., Gaborieau, Valerie, McKay, James D., Ye, Yuanqing, Henrion, Marc, Bruinsma, Fiona, Jordan, Susan, Severi, Gianluca, Hveem, Kristian, Vatten, Lars J., Fletcher, Tony, Koppova, Kvetoslava, Larsson, Susanna C., Wolk, Alicja, Banks, Rosamonde E., Selby, Peter J., Easton, Douglas F., Pharoah, Paul, Andreotti, Gabriella, Freeman, Laura E. Beane, Koutros, Stella, Albanes, Demetrius, Mannisto, Satu, Weinstein, Stephanie, Clark, Peter E., Edwards, Todd E., Lipworth, Loren, Gapstur, Susan M., Stevens, Victoria L., Carol, Hallie, Freedman, Matthew L., Pomerantz, Mark M., Cho, Eunyoung, Kraft, Peter, Preston, Mark A., Wilson, Kathryn M., Gaziano, J. Michael, Sesso, Howard S., Black, Amanda, Freedman, Neal D., Huang, Wen-Yi, Anema, John G., Kahnoski, Richard J., Lane, Brian R., Noyes, Sabrina L., Petillo, David, Colli, Leandro M., Sampson, Joshua N., Besse, Celine, Blanche, Helene, Boland, Anne, Burdette, Laurie, Prokhortchouk, Egor, Skryabin, Konstantin G., Yeager, Meredith, Mijuskovic, Mirjana, Ognjanovic, Miodrag, Foretova, Lenka, Holcatova, Ivana, Janout, Vladimir, Mates, Dana, Mukeriya, Anush, Rascu, Stefan, Zaridze, David, Bencko, Vladimir, Cybulski, Cezary, Fabianova, Eleonora, Jinga, Viorel, Lissowska, Jolanta, Lubinski, Jan, Navratilova, Marie, Rudnai, Peter, Szeszenia-Dabrowska, Neonila, Benhamou, Simone, Cancel-Tassin, Geraldine, Cussenot, Olivier, Bueno-de-Mesquita, H. Bas, Canzian, Federico, Duell, Eric J., Ljungberg, Börje, Sitaram, Raviprakash T., Peters, Ulrike, White, Emily, Anderson, Garnet L., Johnson, Lisa, Luo, Juhua, Buring, Julie, Lee, I-Min, Chow, Wong-Ho, Moore, Lee E., Wood, Christopher, Eisen, Timothy, Larkin, James, Choueiri, Toni K., Lathrop, G. Mark, Teh, Bin Tean, Deleuze, Jean-Francois, Wu, Xifeng, Houlston, Richard S., Brennan, Paul, Chanock, Stephen J., Scelo, Ghislaine, and Purdue, Mark P.
Published: 2017
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9. Author Correction: Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

Author: de Rojas, Itziar, Moreno-Grau, Sonia, Tesi, Niccolo, Grenier-Boley, Benjamin, Andrade, Victor, Jansen, Iris E., Pedersen, Nancy L., Stringa, Najada, Zettergren, Anna, Hernández, Isabel, Antúnez, Carmen, Antonell, Anna, Tankard, Rick M., Bis, Joshua C., Sims, Rebecca, Bellenguez, Céline, Quintela, Inés, González-Perez, Antonio, Calero, Miguel, Macías, Juan, Blesa, Rafael, Cervera-Carles, Laura, Menéndez-González, Manuel, Royo, Jose Luís, Moreno, Fermin, Huerto Vilas, Raquel, Baquero, Miquel, Diez-Fairen, Mónica, Lage, Carmen, García-González, Pablo, Valero, Sergi, Ullgren, Abbe, Naj, Adam C., Lemstra, Afina W., Benussi, Alberto, Rábano, Alberto, Padovani, Alessandro, Squassina, Alessio, de Mendonça, Alexandre, Arias Pastor, Alfonso, Kok, Almar A. L., Meggy, Alun, Pastor, Ana Belén, Espinosa, Ana, Corma-Gómez, Anaïs, Sanabria, Ángela, DeStefano, Anita L., Schneider, Anja, Haapasalo, Annakaisa, Kinhult Ståhlbom, Anne, Tybjærg-Hansen, Anne, Hartmann, Annette M., Spottke, Annika, Corbatón-Anchuelo, Arturo, Rongve, Arvid, Borroni, Barbara, Arosio, Beatrice, Nacmias, Benedetta, Nordestgaard, Børge G., Kunkle, Brian W., Charbonnier, Camille, Masullo, Carlo, Martínez Rodríguez, Carmen, Muñoz-Fernandez, Carmen, Dufouil, Carole, Graff, Caroline, Ferreira, Catarina B., Chillotti, Caterina, Reynolds, Chandra A., Fenoglio, Chiara, Van Broeckhoven, Christine, Clark, Christopher, Pisanu, Claudia, Satizabal, Claudia L., Holmes, Clive, Buiza-Rueda, Dolores, Aarsland, Dag, Rujescu, Dan, Alcolea, Daniel, Galimberti, Daniela, Wallon, David, Seripa, Davide, Grünblatt, Edna, Dardiotis, Efthimios, Düzel, Emrah, Scarpini, Elio, Conti, Elisa, Rubino, Elisa, Gelpi, Ellen, Rodriguez-Rodriguez, Eloy, Duron, Emmanuelle, Boerwinkle, Eric, Ferri, Evelyn, Tagliavini, Fabrizio, Küçükali, Fahri, Pasquier, Florence, Sanchez-Garcia, Florentino, Mangialasche, Francesca, Jessen, Frank, Nicolas, Gaël, Selbæk, Geir, Ortega, Gemma, Chêne, Geneviève, Hadjigeorgiou, Georgios, Rossi, Giacomina, Spalletta, Gianfranco, Giaccone, Giorgio, Grande, Giulia, Binetti, Giuliano, Papenberg, Goran, Hampel, Harald, Bailly, Henri, Zetterberg, Henrik, Soininen, Hilkka, Karlsson, Ida K., Alvarez, Ignacio, Appollonio, Ildebrando, Giegling, Ina, Skoog, Ingmar, Saltvedt, Ingvild, Rainero, Innocenzo, Rosas Allende, Irene, Hort, Jakub, Diehl-Schmid, Janine, Van Dongen, Jasper, Vidal, Jean-Sebastien, Lehtisalo, Jenni, Wiltfang, Jens, Thomassen, Jesper Qvist, Kornhuber, Johannes, Haines, Jonathan L., Vogelgsang, Jonathan, Pineda, Juan A., Fortea, Juan, Popp, Julius, Deckert, Jürgen, Buerger, Katharina, Morgan, Kevin, Fließbach, Klaus, Sleegers, Kristel, Molina-Porcel, Laura, Kilander, Lena, Weinhold, Leonie, Farrer, Lindsay A., Wang, Li-San, Kleineidam, Luca, Farotti, Lucia, Parnetti, Lucilla, Tremolizzo, Lucio, Hausner, Lucrezia, Benussi, Luisa, Froelich, Lutz, Ikram, M. Arfan, Deniz-Naranjo, M. Candida, Tsolaki, Magda, Rosende-Roca, Maitée, Löwenmark, Malin, Hulsman, Marc, Spallazzi, Marco, Pericak-Vance, Margaret A., Esiri, Margaret, Bernal Sánchez-Arjona, María, Dalmasso, Maria Carolina, Martínez-Larrad, María Teresa, Arcaro, Marina, Nöthen, Markus M., Fernández-Fuertes, Marta, Dichgans, Martin, Ingelsson, Martin, Herrmann, Martin J., Scherer, Martin, Vyhnalek, Martin, Kosmidis, Mary H., Yannakoulia, Mary, Schmid, Matthias, Ewers, Michael, Heneka, Michael T., Wagner, Michael, Scamosci, Michela, Kivipelto, Miia, Hiltunen, Mikko, Zulaica, Miren, Alegret, Montserrat, Fornage, Myriam, Roberto, Natalia, van Schoor, Natasja M., Seidu, Nazib M., Banaj, Nerisa, Armstrong, Nicola J., Scarmeas, Nikolaos, Scherbaum, Norbert, Goldhardt, Oliver, Hanon, Oliver, Peters, Oliver, Skrobot, Olivia Anna, Quenez, Olivier, Lerch, Ondrej, Bossù, Paola, Caffarra, Paolo, Dionigi Rossi, Paolo, Sakka, Paraskevi, Mecocci, Patrizia, Hoffmann, Per, Holmans, Peter A., Fischer, Peter, Riederer, Peter, Yang, Qiong, Marshall, Rachel, Kalaria, Rajesh N., Mayeux, Richard, Vandenberghe, Rik, Cecchetti, Roberta, Ghidoni, Roberta, Frikke-Schmidt, Ruth, Sorbi, Sandro, Hägg, Sara, Engelborghs, Sebastiaan, Helisalmi, Seppo, Botne Sando, Sigrid, Kern, Silke, Archetti, Silvana, Boschi, Silvia, Fostinelli, Silvia, Gil, Silvia, Mendoza, Silvia, Mead, Simon, Ciccone, Simona, Djurovic, Srdjan, Heilmann-Heimbach, Stefanie, Riedel-Heller, Steffi, Kuulasmaa, Teemu, del Ser, Teodoro, Lebouvier, Thibaud, Polak, Thomas, Ngandu, Tiia, Grimmer, Timo, Bessi, Valentina, Escott-Price, Valentina, Giedraitis, Vilmantas, Deramecourt, Vincent, Maier, Wolfgang, Jian, Xueqiu, Pijnenburg, Yolande A. L., Smith, A. David, Saenz, Aldo, Bizzarro, Alessandra, Lauria, Alessandra, Vacca, Alessandro, Solomon, Alina, Anastasiou, Anna, Richardson, Anna, Boland, Anne, Koivisto, Anne, Daniele, Antonio, Greco, Antonio, Marianthi, Arnaoutoglou, McGuinness, Bernadette, Fin, Bertrand, Ferrari, Camilla, Custodero, Carlo, Ferrarese, Carlo, Ingino, Carlos, Mangone, Carlos, Reyes Toso, Carlos, Martínez, Carmen, Cuesta, Carolina, Muchnik, Carolina, Joachim, Catharine, Ortiz, Cecilia, Besse, Céline, Johansson, Charlotte, Zoia, Chiara Paola, Laske, Christoph, Anastasiou, Costas, Palacio, Dana Lis, Politis, Daniel G., Janowitz, Daniel, Craig, David, Mann, David M., Neary, David, Jürgen, Deckert, Daian, Delphine, Belezhanska, Diyana, Kohler, Eduardo, Castaño, Eduardo M., Koutsouraki, Effrosyni, Chipi, Elena, De Roeck, Ellen, Costantini, Emanuele, Vardy, Emma R. L. C., Piras, Fabrizio, Roveta, Fausto, Piras, Federica, Prestia, Federico Ariel, Assogna, Francesca, Salani, Francesca, Sala, Gessica, Lacidogna, Giordano, Novack, Gisela, Wilcock, Gordon, Thonberg, Håkan, Kölsch, Heike, Weber, Heike, Boecker, Henning, Etchepareborda, Ignacio, Piaceri, Irene, Tuomilehto, Jaakko, Lindström, Jaana, Laczo, Jan, Johnston, Janet, Deleuze, Jean-François, Harris, Jenny, Schott, Jonathan M., Priller, Josef, Bacha, Juan Ignacio, Snowden, Julie, Lisso, Julieta, Mihova, Kalina Yonkova, Traykov, Latchezar, Morelli, Laura, Brusco, Luis Ignacio, Rainer, Malik, Takalo, Mari, Bjerke, Maria, Del Zompo, Maria, Serpente, Maria, Sanchez Abalos, Mariana, Rios, Mario, Peltonen, Markku, Herrman, Martin J., Kohler, Matias, Rojo, Matias, Jones, Matthew, Orsini, Michela, Medel, Nancy, Olivar, Natividad, Fox, Nick C., Salvadori, Nicola, Hooper, Nigel M., Galeano, Pablo, Solis, Patricia, Bastiani, Patrizia, Passmore, Peter, Heun, Reinhard, Antikainen, Riitta, Olaso, Robert, Perneczky, Robert, Germani, Sandra, López-García, Sara, Love, Seth, Mehrabian, Shima, Bagnoli, Silvia, Kochen, Silvia, Andreoni, Simona, Teipel, Stefan, Todd, Stephen, Pickering-Brown, Stuart, Natunen, Teemu, Tegos, Thomas, Laatikainen, Tiina, Strandberg, Timo, Polvikoski, Tuomo M., Matoska, Vaclav, Ciullo, Valentina, Cores, Valeria, Solfrizzi, Vincenzo, Lisetti, Viviana, Sevillano, Zulma, Abdelnour, C., Aguilera, N., Alarcon, E., Alegret, M., Benaque, A., Boada, M., Buendia, M., Cañabate, P., Carracedo, A., de Rojas, I., Diego, S., Espinosa, A., Gailhajenet, A., García-González, P., Gil, S., Guitart, M., González-Pérez, A., Hernández, I., Ibarria, M., Lafuente, A., Macias, J., Maroñas, O., Martín, E., Martínez, M.T., Marquié, M., Mauleón, A., Montrreal, L., Moreno-Grau, S., Moreno, M., Orellana, A., Ortega, G., Pancho, A., Pelejá, E., Pérez-Cordon, A., Pineda, J.A., Preckler, S., Quintela, I., Real, L.M., Rosende-Roca, M., Ruiz, A., Sáez, M.E., Sanabria, A., Serrano-Rios, M., Sotolongo-Grau, O., Tárraga, L., Valero, S., Vargas, L., Adarmes-Gómez, A.D., Alarcón-Martín, E., Alonso, M.D., Álvarez, I., Álvarez, V., Amer-Ferrer, G., Antequera, M., Antúnez, C., Baquero, M., Bernal, M., Blesa, R., Bullido, M.J., Burguera, J.A., Calero, M., Carrillo, F., Carrión-Claro, M., Casajeros, M.J., Clarimón, J., Cruz-Gamero, J.M., de Pancorbo, M.M., del Ser, T., Diez-Fairen, M., Escuela, R., Garrote-Espina, L., Fortea, J., Franco-Macías, E., Frank-García, A., Garcia Madrona, S., Gómez-Garre, P., Hevilla, S., Jesús, S., Labrador Espinosa, M.A., Lage, C., Legaz, A., Lleó, A., Lopez de Munain, A., López-García, S., Macias-García, D., Manzanares, S., Marín, M., Marín-Muñoz, J., Marín, T., Martín Montes, A., Martínez, B., Martínez, C., Martínez, V., Martínez-Lage Álvarez, P., Medina, M., Mendioroz Iriarte, M., Menéndez-González, M., Mir, P., Molinuevo, J.L., Pastor, P., Pérez Tur, J., Periñán-Tocino, T., Pineda-Sanchez, R., Piñol-Ripoll, G., Rábano, A., Real de Asúa, D., Rodrigo, S., Rodríguez-Rodríguez, E., Royo, J.L., Sanchez del Valle Díaz, R., Sánchez-Juan, P., Sastre, I., Vicente, M.P., Vigo-Ortega, R., Vivancos, L., Macleod, C., McCracken, C., Brayne, Carol, Bresner, Catherine, Grozeva, Detelina, Bellou, Eftychia, Sommerville, Ewen W., Matthews, F., Leonenko, Ganna, Menzies, Georgina, Windle, Gill, Harwood, Janet, Phillips, Judith, Bennett, K., Luckuck, Lauren, Clare, Linda, Woods, Robert, Saad, Salha, Burholt, Vanessa, Kehoe, Patrick Gavin, Garcia-Ribas, Guillermo, Sánchez-Juan, Pascual, Pastor, Pau, Pérez-Tur, Jordi, Piñol-Ripoll, Gerard, Lopez de Munain, Adolfo, García-Alberca, Jose María, Bullido, María J., Álvarez, Victoria, Lleó, Alberto, Real, Luis M., Mir, Pablo, Medina, Miguel, Scheltens, Philip, Holstege, Henne, Marquié, Marta, Sáez, María Eugenia, Carracedo, Ángel, Amouyel, Philippe, Schellenberg, Gerard D., Williams, Julie, Seshadri, Sudha, van Duijn, Cornelia M., Mather, Karen A., Sánchez-Valle, Raquel, Serrano-Ríos, Manuel, Orellana, Adelina, Tárraga, Lluís, Blennow, Kaj, Huisman, Martijn, Andreassen, Ole A., Posthuma, Danielle, Clarimón, Jordi, Boada, Mercè, van der Flier, Wiesje M., Ramirez, Alfredo, Lambert, Jean-Charles, van der Lee, Sven J., Ruiz, Agustín, Smith, A David, Saenz, Aldo, Bizzarro, Alessandra, Lauria, Alessandra, Vacca, Alessandro, Solomon, Alina, Anastasiou, Anna, Richardson, Anna, Boland, Anne, Koivisto, Anne, Daniele, Antonio, Greco, Antonio, Marianthi, Arnaoutoglou, McGuinness, Bernadette, Fin, Bertrand, Ferrari, Camilla, Custodero, Carlo, Ferrarese, Carlo, Ingino, Carlos, Mangone, Carlos, Reyes Toso, Carlos, Martínez, Carmen, Cuesta, Carolina, Muchnik, Carolina, Joachim, Catharine, Ortiz, Cecilia, Besse, Céline, Johansson, Charlotte, Zoia, Chiara Paola, Laske, Christoph, Anastasiou, Costas, Palacio, Dana Lis, Politis, Daniel G, Janowitz, Daniel, Craig, David, Mann, David M, Neary, David, Jürgen, Deckert, Daian, Delphine, Belezhanska, Diyana, Kohler, Eduardo, Castaño, Eduardo M, Koutsouraki, Effrosyni, Chipi, Elena, De Roeck, Ellen, Costantini, Emanuele, Vardy, Emma R L C, Piras, Fabrizio, Roveta, Fausto, Piras, Federica, Prestia, Federico Ariel, Assogna, Francesca, Salani, Francesca, Sala, Gessica, Lacidogna, Giordano, Novack, Gisela, Wilcock, Gordon, Thonberg, Håkan, Kölsch, Heike, Weber, Heike, Boecker, Henning, Etchepareborda, Ignacio, Piaceri, Irene, Tuomilehto, Jaakko, Lindström, Jaana, Laczo, Jan, Johnston, Janet, Deleuze, Jean-François, Harris, Jenny, Schott, Jonathan M, Priller, Josef, Bacha, Juan Ignacio, Snowden, Julie, Lisso, Julieta, Mihova, Kalina Yonkova, Traykov, Latchezar, Morelli, Laura, Brusco, Luis Ignacio, Rainer, Malik, Takalo, Mari, Bjerke, Maria, Del Zompo, Maria, Serpente, Maria, Sanchez Abalos, Mariana, Rios, Mario, Peltonen, Markku, Herrman, Martin J, Kohler, Matias, Rojo, Matias, Jones, Matthew, Orsini, Michela, Medel, Nancy, Olivar, Natividad, Fox, Nick C, Salvadori, Nicola, Hooper, Nigel M, Galeano, Pablo, Solis, Patricia, Bastiani, Patrizia, Passmore, Peter, Heun, Reinhard, Antikainen, Riitta, Olaso, Robert, Perneczky, Robert, Germani, Sandra, López-García, Sara, Love, Seth, Mehrabian, Shima, Bagnoli, Silvia, Kochen, Silvia, Andreoni, Simona, Teipel, Stefan, Todd, Stephen, Pickering-Brown, Stuart, Natunen, Teemu, Tegos, Thomas, Laatikainen, Tiina, Strandberg, Timo, Polvikoski, Tuomo M, Matoska, Vaclav, Ciullo, Valentina, Cores, Valeria, Solfrizzi, Vincenzo, Lisetti, Viviana, Sevillano, Zulma, Abdelnour, C., Aguilera, N., Alarcon, E., Alegret, M., Benaque, A., Boada, M., Buendia, M., Cañabate, P., Carracedo, A., Corbatón-Anchuelo, A., de Rojas, I., Diego, S., Espinosa, A., Gailhajenet, A., García-González, P., Gil, S., Guitart, M., González-Pérez, A., Hernández, I., Ibarria, M., Lafuente, A., Macias, J., Maroñas, O., Martín, E., Martínez, M. T., Marquié, M., Mauleón, A., Montrreal, L., Moreno-Grau, S., Moreno, M., Orellana, A., Ortega, G., Pancho, A., Pelejá, E., Pérez-Cordon, A., Pineda, J. A., Preckler, S., Quintela, I., Real, L. M., Rosende-Roca, M., Ruiz, A., Sáez, M. E., Sanabria, A., Serrano-Rios, M., Sotolongo-Grau, O., Tárraga, L., Valero, S., Vargas, L., Adarmes-Gómez, A. D., Alarcón-Martín, E., Alonso, M. D., Álvarez, I., Álvarez, V., Amer-Ferrer, G., Antequera, M., Antúnez, C., Baquero, M., Bernal, M., Blesa, R., Buiza-Rueda, D., Bullido, M. J., Burguera, J. A., Calero, M., Carrillo, F., Carrión-Claro, M., Casajeros, M. J., Clarimón, J., Cruz-Gamero, J. M., de Pancorbo, M. M., Del Ser, T., Diez-Fairen, M., Escuela, R., Garrote-Espina, L., Fortea, J., Franco-Macías, E., Frank-García, A., García-Alberca, J. M., Garcia Madrona, S., Garcia-Ribas, G., Gómez-Garre, P., Hevilla, S., Jesús, S., Labrador Espinosa, M. A., Lage, C., Legaz, A., Lleó, A., Lopez de Munain, A., López-García, S., Macias-García, D., Manzanares, S., Marín, M., Marín-Muñoz, J., Marín, T., Martín Montes, A., Martínez, B., Martínez, C., Martínez, V., Martínez-Lage Álvarez, P., Medina, M., Mendioroz Iriarte, M., Menéndez-González, M., Mir, P., Molinuevo, J. L., Pastor, P., Pérez Tur, J., Periñán-Tocino, T., Pineda-Sanchez, R., Piñol-Ripoll, G., Rábano, A., Real de Asúa, D., Rodrigo, S., Rodríguez-Rodríguez, E., Royo, J. L., Sanchez Del Valle Díaz, R., Sánchez-Juan, P., Sastre, I., Vicente, M. P., Vigo-Ortega, R., Vivancos, L., Macleod, C., McCracken, C., Brayne, Carol, Bresner, Catherine, Grozeva, Detelina, Bellou, Eftychia, Sommerville, Ewen W, Matthews, F., Leonenko, Ganna, Menzies, Georgina, Windle, Gill, Harwood, Janet, Phillips, Judith, Bennett, K., Luckuck, Lauren, Clare, Linda, Woods, Robert, Saad, Salha, Burholt, Vanessa, Rongve, Arvid, Brussels Heritage Lab, Clinical sciences, Neuroprotection & Neuromodulation, and Neurology
Subjects: polygenic risk scores, Multidisciplinary, Common variants, Neuroscience(all), neurology, Medizin, General Physics and Astronomy, ddc:500, General Chemistry, Alzheimer's disease, General Biochemistry, Genetics and Molecular Biology, RISK STRATIFICATION
Abstract: The original version of this Article omitted from the author list the 212th author Patrizia Mecocci, who is from the Institute of Gerontology and Geriatrics, Department of Medicine, University of Perugia, Perugia, Italy. Consequently, the “Sample Contribution” section of Author Contributions was updated to add “P.M” between “P.D.” and “R.C.”. Additionally, the original version of this Article contained the incorrect affiliation for author Patrick Gavin Kehoe, which incorrectly read “German Center for Neurodegenerative Diseases (DZNE), Berlin, Germany”. The correct version replaces this affiliation with “Bristol Medical School (THS), University of Bristol, Southmead Hospital, Bristol, UK”. This has been corrected in both the PDF and HTML versions of the Article. CA extern
Published: 2023
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10. Modifying a Game to Study the Impact of an Hostile Environments on Foraging Behavior

Author: Antariksa, Cania, primary, Besse, Céline, additional, Bruijn, Thomas De, additional, Kroes, Brandon, additional, Schaap, Lennard, additional, Vink, Elze De, additional, Schomaker, Judith, additional, and Gómez-Maureira, Marcello A., additional
Published: 2023
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11. Major Loci on Chromosomes 8q and 3q Control Interferon γ Production Triggered by Bacillus Calmette-Guerin and 6-kDa Early Secretory Antigen Target, Respectively, in Various Populations

Author: Jabot-Hanin, Fabienne, Cobat, Aurélie, Feinberg, Jacqueline, Grange, Ghislain, Remus, Natascha, Poirier, Christine, Boland-Auge, Anne, Besse, Céline, Bustamante, Jacinta, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Schurr, Erwin, Alcaïs, Alexandre, Hoal, Eileen G., Delacourt, Christophe, and Abel, Laurent
Published: 2016

12. A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus

Author: Mobuchon, Lenha, Battistella, Aude, Bardel, Claire, Scelo, Ghislaine, Renoud, Alexia, Houy, Alexandre, Cassoux, Nathalie, Milder, Maud, Cancel-Tassin, Géraldine, Cussenot, Olivier, Delattre, Olivier, Besse, Céline, Boland, Anne, Deleuze, Jean-François, Cox, David G., and Stern, Marc-Henri
Published: 2017
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13. Constitutional variants are not associated with HER2-positive breast cancer: results from the SIGNAL/PHARE clinical cohort

Author: Pivot, Xavier, Romieu, Gilles, Fumoleau, Pierre, Rios, Maria, Bonnefoi, Hervé, Bachelot, Thomas, Soulié, Patrick, Jouannaud, Christelle, Bourgeois, Hugues, Petit, Thierry, Tennevet, Isabelle, Assouline, David, Mathieu, Marie-Christine, Jacquin, Jean-Philippe, Lavau-Denes, Sandrine, Darut-Jouve, Ariane, Ferrero, Jean-Marc, Tarpin, Carole, Lévy, Christelle, Delecroix, Valérie, Trillet-Lenoir, Véronique, Cojocarasu, Oana, Meunier, Jérôme, Pierga, Jean-Yves, Agostini, Cécile, Kerbrat, Pierre, Faure-Mercier, Céline, Blanché, Hélène, Sahbatou, Mourad, Boland, Anne, Bacq, Delphine, Besse, Céline, Calvo, Fabien, Renaud, Alexia, Deleuze, Jean-François, Pauporté, Iris, Thomas, Gilles, and Cox, David G.
Published: 2017
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14. Experimental evolution links post-transcriptional regulation to Leishmania fitness gain

Author: Piel, Laura, primary, Rajan, K. Shanmugha, additional, Bussotti, Giovanni, additional, Varet, Hugo, additional, Legendre, Rachel, additional, Proux, Caroline, additional, Douché, Thibaut, additional, Giai-Gianetto, Quentin, additional, Chaze, Thibault, additional, Cokelaer, Thomas, additional, Vojtkova, Barbora, additional, Gordon-Bar, Nadav, additional, Doniger, Tirza, additional, Cohen-Chalamish, Smadar, additional, Rengaraj, Praveenkumar, additional, Besse, Céline, additional, Boland, Anne, additional, Sadlova, Jovana, additional, Deleuze, Jean-François, additional, Matondo, Mariette, additional, Unger, Ron, additional, Volf, Petr, additional, Michaeli, Shulamit, additional, Pescher, Pascale, additional, and Späth, Gerald F., additional
Published: 2022
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15. Genetic population structure across Brittany and the downstream Loire basin provides new insights on the demographic history of Western Europe

Author: Alves, Isabel, primary, Giemza, Joanna, additional, Blum, Michael, additional, Bernhardsson, Carolina, additional, Chatel, Stéphanie, additional, Karakachoff, Matilde, additional, Pierre, Aude Saint, additional, Herzig, Anthony F., additional, Olaso, Robert, additional, Monteil, Martial, additional, Gallien, Véronique, additional, Cabot, Elodie, additional, Svensson, Emma, additional, Bacq-Daian, Delphine, additional, Baron, Estelle, additional, Berthellier, Charlotte, additional, Besse, Céline, additional, Blanché, Hélène, additional, Bocher, Ozvan, additional, Boland, Anne, additional, Bonnaud, Stéphanie, additional, Charpentier, Eric, additional, Dandine-Roulland, Claire, additional, Férec, Claude, additional, Fruchet, Christine, additional, Lecointe, Simon, additional, Floch, Edith Le, additional, Ludwig, Thomas, additional, Marenne, Gaëlle, additional, Meyer, Vincent, additional, Quellery, Elisabeth, additional, Racimo, Fernando, additional, Rouault, Karen, additional, Sandron, Florian, additional, Schott, Jean-Jacques, additional, Suarez, Lourdes Velo, additional, Violleau, Jade, additional, Willerslev, Eske, additional, Coativy, Yves, additional, Jézéquel, Mael, additional, Le-Bris, Daniel, additional, Nicolas, Clément, additional, Pailler, Yvan, additional, Goldberg, Marcel, additional, Zins, Marie, additional, Le-Marec, Hervé, additional, Jakobsson, Mattias, additional, Darlu, Pierre, additional, Génin, Emmanuelle, additional, Deleuze, Jean-François, additional, Redon, Richard, additional, and Dina, Christian, additional
Published: 2022
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16. Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network

Author: Denommé-Pichon, Anne-Sophie, primary, Vitobello, Antonio, additional, Olaso, Robert, additional, Ziegler, Alban, additional, Jeanne, Médéric, additional, Tran Mau-Them, Frédéric, additional, Couturier, Victor, additional, Racine, Caroline, additional, Isidor, Bertrand, additional, Poë, Charlotte, additional, Jouan, Thibaud, additional, Boland, Anne, additional, Fin, Bertrand, additional, Bacq-Daian, Delphine, additional, Besse, Céline, additional, Garde, Aurore, additional, Prost, Adeline, additional, Garret, Philippine, additional, Tisserant, Émilie, additional, Delanne, Julian, additional, Nambot, Sophie, additional, Juven, Aurélien, additional, Gorce, Magali, additional, Nizon, Mathilde, additional, Vincent, Marie, additional, Moutton, Sébastien, additional, Fradin, Mélanie, additional, Lavillaureix, Alinoë, additional, Rollier, Paul, additional, Capri, Yline, additional, Van-Gils, Julien, additional, Busa, Tiffany, additional, Sigaudy, Sabine, additional, Pasquier, Laurent, additional, Barth, Magalie, additional, Bruel, Ange-Line, additional, Flamant, Cyril, additional, Prouteau, Clément, additional, Bonneau, Dominique, additional, Toutain, Annick, additional, Chantegret, Corinne, additional, Callier, Patrick, additional, Philippe, Christophe, additional, Duffourd, Yannis, additional, Deleuze, Jean-François, additional, Sorlin, Arthur, additional, Faivre, Laurence, additional, and Thauvin-Robinet, Christel, additional
Published: 2021
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17. Post-transcriptional regulation of Leishmania fitness gain

Author: PIEL, Laura, SHANMUGHA RAJAN, K., BUSSOTTI, Giovanni, VARET, Hugo, LEGENDRE, Rachel, PROUX, Caroline, DOUCHÉ, Thibaut, GIAI-GIANETTO, Quentin, CHAZE, Thibault, VOJTKOVA, Barbora, GORDON-BAR, Nadav, DONIGER, Tirza, COHEN-CHALAMISH, Smadar, RENGARAJ, Praveenkumar, BESSE, Céline, BOLAND, Anne, SADLOVA, Jovana, DELEUZE, Jean-François, MATONDO, Mariette, UNGER, Ron, VOLF, Petr, MICHAELI, Shulamit, PESCHER, Pascale, SPÄTH, Gerald, Parasitologie moléculaire et Signalisation / Molecular Parasitology and Signaling, Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Paris (UP), Bar-Ilan University [Israël], Hub Bioinformatique et Biostatistique - Bioinformatics and Biostatistics HUB, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Spectrométrie de Masse pour la Biologie – Mass Spectrometry for Biology (UTechS MSBio), Institut Pasteur [Paris]-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Biomics (plateforme technologique), Institut Pasteur [Paris], Plateforme de Protéomique / Proteomics platform, Institut Pasteur [Paris]-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris]-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Charles University [Prague] (CU), Centre National de Recherche en Génomique Humaine (CNRGH), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Université Paris-Saclay, This work was supported by the Fondation de la Recherche Médicale contract FDT201805005619(LP), the Agence Nationale pour la Recherche Labex ‘Integrative Biology of Emerging InfectiousDiseases’ contract ANR-10-LABX-62-IBEID and Labex ‘French Alliance for Parasitology and HealthCare’ contract ANR-11-LABX-0024 (GFS, LP, PP, GB), the Campus France Franco-Israeli ProgrammeHubert Curien Maimonide 2018 (GFS and SM), the seeding grant from the Institut Pasteur International Department to the LeiSHield Consortium and the EU H2020 project LeiSHield-MATI - REP-778298-1 (GB), the France Génomique National infrastructure, funded as part of the « Investissements d’Avenir » program managed by the Agence Nationale pour la Recherche contract ANR-10-INBS-09 (HV, RL, CP), and the ERD Funds, project CePaViP (CZ.02.1.01/0.0/0.0/ 16_019/0000759) (BV, JS, PV). We thank the CEA-CNRGH for its contribution to the sequencing costs and all the CEA-CNRGH staff who contributed to sample preparation and sequencing for their excellent technical assistance., ANR-10-LABX-0062,IBEID,Integrative Biology of Emerging Infectious Diseases(2010), ANR-11-LABX-0024,ParaFrap,Alliance française contre les maladies parasitaires(2011), ANR-10-INBS-0009,France-Génomique,Organisation et montée en puissance d'une Infrastructure Nationale de Génomique(2010), Bussotti, Giovanni, Integrative Biology of Emerging Infectious Diseases - - IBEID2010 - ANR-10-LABX-0062 - LABX - VALID, Laboratoires d'excellence - Alliance française contre les maladies parasitaires - - ParaFrap2011 - ANR-11-LABX-0024 - LABX - VALID, Organisation et montée en puissance d'une Infrastructure Nationale de Génomique - - France-Génomique2010 - ANR-10-INBS-0009 - INBS - VALID, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Cité (UPCité), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris] (IP)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris] (IP), and Institut Pasteur [Paris] (IP)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris] (IP)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)
Subjects: [SDV] Life Sciences [q-bio], Leishmania, transcriptomics, posttranscriptional adaptation, [SDV]Life Sciences [q-bio], genomics, [INFO]Computer Science [cs], experimental evolution, [INFO] Computer Science [cs], small nucleolar RNAs, fitness
Abstract: The protozoan parasite Leishmania donovani causes fatal human visceral leishmaniasis in absence of treatment. Genome instability has been recognized as a driver in Leishmania fitness gain in response to environmental change or chemotherapy. How genome instability generates beneficial phenotypes despite potential deleterious gene dosage effects is unknown. Here we address this important open question applying experimental evolution and integrative systems approaches on parasites adapting to in vitro culture. Phenotypic analyses of parasites from early and late stages of culture adaptation revealed an important fitness tradeoff, with selection for accelerated growth (fitness gain) impairing infectivity (fitness costs). Comparative genomics, transcriptomics and proteomics analyses revealed a complex regulatory network driving parasite fitness, with genome instability causing highly reproducible, gene dosage-dependent changes in protein linked to post-transcriptional regulation. These in turn were associated with a gene dosage-independent reduction in flagellar transcripts and a coordinated increase in abundance of coding and non-coding RNAs known to regulate ribosomal biogenesis and protein translation. We correlated differential expression of small nucleolar RNAs (snoRNAs) with changes in rRNA modification, providing first evidence that Leishmania fitness gain may be controlled by post-transcriptional and epitranscriptomic regulation. Our findings propose a novel model for Leishmania fitness gain, where differential regulation of mRNA stability and the generation of fitness-adapted ribosomes may potentially filter deleterious from beneficial gene dosage effects and provide proteomic robustness to genetically heterogenous, adapting parasite populations. This model challenges the current, genome-centric approach to Leishmania epidemiology and identifies the Leishmania non-coding small RNome as a potential novel source for biomarker discovery.
Published: 2021

18. Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23

Author: Onderzoek Precision medicine, Circulatory Health, Child Health, Aios en Stafsecr. Cardiologie, Experimentele Afd. Cardiologie 2, Team Medisch, Onderzoek Cardiovasculair Reg. Med., Garnier, Sophie, Harakalova, Magdalena, Weiss, Stefan, Mokry, Michal, Regitz-Zagrosek, Vera, Hengstenberg, Christian, Cappola, Thomas P, Isnard, Richard, Arbustini, Eloisa, Cook, Stuart A, van Setten, Jessica, Calis, Jorg J A, Hakonarson, Hakon, Morley, Michael P, Stark, Klaus, Prasad, Sanjay K, Li, Jin, O'Regan, Declan P, Grasso, Maurizia, Müller-Nurasyid, Martina, Meitinger, Thomas, Empana, Jean-Philippe, Strauch, Konstantin, Waldenberger, Melanie, Marguiles, Kenneth B, Seidman, Christine E, Kararigas, Georgios, Meder, Benjamin, Haas, Jan, Boutouyrie, Pierre, Lacolley, Patrick, Jouven, Xavier, Erdmann, Jeanette, Blankenberg, Stefan, Wichter, Thomas, Ruppert, Volker, Tavazzi, Luigi, Dubourg, Olivier, Roizes, Gérard, Dorent, Richard, de Groote, Pascal, Fauchier, Laurent, Trochu, Jean-Noël, Aupetit, Jean-François, Bilinska, Zofia T, Germain, Marine, Völker, Uwe, Hemerich, Daiane, Raji, Ibticem, Bacq-Daian, Delphine, Proust, Carole, Remior, Paloma, Gomez-Bueno, Manuel, Lehnert, Kristin, Maas, Renee, Olaso, Robert, Saripella, Ganapathi Varma, Felix, Stephan B, McGinn, Steven, Duboscq-Bidot, Laëtitia, van Mil, Alain, Besse, Céline, Fontaine, Vincent, Blanché, Hélène, Ader, Flavie, Keating, Brendan, Curjol, Angélique, Boland, Anne, Komajda, Michel, Cambien, François, Deleuze, Jean-François, Dörr, Marcus, Asselbergs, Folkert W, Villard, Eric, Trégouët, David-Alexandre, Charron, Philippe, Maas, Renee GC, Onderzoek Precision medicine, Circulatory Health, Child Health, Aios en Stafsecr. Cardiologie, Experimentele Afd. Cardiologie 2, Team Medisch, Onderzoek Cardiovasculair Reg. Med., Garnier, Sophie, Harakalova, Magdalena, Weiss, Stefan, Mokry, Michal, Regitz-Zagrosek, Vera, Hengstenberg, Christian, Cappola, Thomas P, Isnard, Richard, Arbustini, Eloisa, Cook, Stuart A, van Setten, Jessica, Calis, Jorg J A, Hakonarson, Hakon, Morley, Michael P, Stark, Klaus, Prasad, Sanjay K, Li, Jin, O'Regan, Declan P, Grasso, Maurizia, Müller-Nurasyid, Martina, Meitinger, Thomas, Empana, Jean-Philippe, Strauch, Konstantin, Waldenberger, Melanie, Marguiles, Kenneth B, Seidman, Christine E, Kararigas, Georgios, Meder, Benjamin, Haas, Jan, Boutouyrie, Pierre, Lacolley, Patrick, Jouven, Xavier, Erdmann, Jeanette, Blankenberg, Stefan, Wichter, Thomas, Ruppert, Volker, Tavazzi, Luigi, Dubourg, Olivier, Roizes, Gérard, Dorent, Richard, de Groote, Pascal, Fauchier, Laurent, Trochu, Jean-Noël, Aupetit, Jean-François, Bilinska, Zofia T, Germain, Marine, Völker, Uwe, Hemerich, Daiane, Raji, Ibticem, Bacq-Daian, Delphine, Proust, Carole, Remior, Paloma, Gomez-Bueno, Manuel, Lehnert, Kristin, Maas, Renee, Olaso, Robert, Saripella, Ganapathi Varma, Felix, Stephan B, McGinn, Steven, Duboscq-Bidot, Laëtitia, van Mil, Alain, Besse, Céline, Fontaine, Vincent, Blanché, Hélène, Ader, Flavie, Keating, Brendan, Curjol, Angélique, Boland, Anne, Komajda, Michel, Cambien, François, Deleuze, Jean-François, Dörr, Marcus, Asselbergs, Folkert W, Villard, Eric, Trégouët, David-Alexandre, Charron, Philippe, and Maas, Renee GC
Published: 2021

19. A novel rare c.-39C>T mutation in the PROS1 5'UTR causing PS deficiency by creating a new upstream translation initiation codone

Author: Labrouche-Colomer, Sylvie, Soukarieh, Omar, Proust, Carole, Mouton, Christine, Huguenin, Yoann, Roux, Maguelonne, Besse, Céline, Boland, Anne, Olaso, Robert, Constans, Joël, Deleuze, Jean-François, Morange, Pierre-Emmanuel, Jaspard-Vinassa, Béatrice, Trégouët, David-Alexandre, Biologie des maladies cardiovasculaires = Biology of Cardiovascular Diseases, Université de Bordeaux (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire d'hématologie, Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Bordeaux [Bordeaux], Génétique Evolutive Humaine - Human Evolutionary Genetics, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Centre National de Recherche en Génomique Humaine, Institut de Génomique, CEA, Evry, France, Centre d'Etude du Polymorphisme Humain (CEPH), Institut Universitaire d'Hématologie (IUH), Université Paris Diderot - Paris 7 (UPD7)-Université Paris Diderot - Paris 7 (UPD7)-Fondation Jean Dausset-Université Paris Cité (UPCité), Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), This work was supported by the GENMED Laboratory of Excellence on Medical Genomics [grant number ANR-10-LABX-0013 (to O.S. and M.R.)], the «EPIDEMIOM-VTE» Senior Chair from the Initiative of Excellence of the University of Bordeaux [grant number ANR No.–10–IDEX-03-02 (to D.A.T.)], partially supported by the French Clinical Research Infrastructure Network on Venous Thrombo-Embolism (F-CRIN INNOVTE), and two research programs managed by the National Research Agency (ANR) as part of the French Investment for the Future., ANR-10-IDEX-0003,IDEX BORDEAUX,Initiative d'excellence de l'Université de Bordeaux(2010), ANR-10-LABX-0013,GENMED,Medical Genomics(2010), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Université Paris Diderot - Paris 7 (UPD7)-Université Paris Diderot - Paris 7 (UPD7)-Fondation Jean Dausset-Université de Paris (UP), Boullé, Christelle, Initiative d'excellence de l'Université de Bordeaux - - IDEX BORDEAUX2010 - ANR-10-IDEX-0003 - IDEX - VALID, and Medical Genomics - - GENMED2010 - ANR-10-LABX-0013 - LABX - VALID
Subjects: Male, Base Sequence, Codon, Initiator, Pedigree, Protein S, [SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, open reading frame, Protein S deficiency, Young Adult, genomic medicine, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, VINTAGE, Protein Biosynthesis, Humans, Female, Venos Thrombosis, mutation, 5' Untranslated Regions, HeLa Cells
Abstract: International audience; Autosomal dominant inherited Protein S deficiency (PSD) (MIM 612336) is a rare disorder caused by rare mutations, mainly located in the coding sequence of the structural PROS1 gene, and associated with an increased risk of venous thromboembolism. To identify the molecular defect underlying PSD observed in an extended French pedigree with seven PSD affected members in whom no candidate deleterious PROS1 mutation was detected by Sanger sequencing of PROS1 exons and their flanking intronic regions or via an multiplex ligation-dependent probe amplification (MLPA) approach, a whole genome sequencing strategy was adopted. This led to the identification of a never reported C to T substitution at c.-39 from the natural ATG codon of the PROS1 gene that completely segregates with PSD in the whole family. This substitution ACG→ATG creates a new start codon upstream of the main ATG. We experimentally demonstrated in HeLa cells that the variant generates a novel overlapping upstream open reading frame (uORF) and inhibits the translation of the wild-type PS. This work describes the first example of 5'UTR PROS1 mutation causing PSD through the creation of an uORF, a mutation that is not predicted to be deleterious by standard annotation softwares, and emphasizes the need for better exploration of such type of non-coding variations in clinical genomics.
Published: 2020
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20. Post-transcriptional regulation of Leishmania fitness gain

Author: Piel, Laura, primary, Rajan, K. Shanmugha, additional, Bussotti, Giovanni, additional, Varet, Hugo, additional, Legendre, Rachel, additional, Proux, Caroline, additional, Douché, Thibaut, additional, Giai-Gianetto, Quentin, additional, Chaze, Thibault, additional, Vojtkova, Barbora, additional, Gordon-Bar, Nadav, additional, Doniger, Tirza, additional, Cohen-Chalamish, Smadar, additional, Rengaraj, Praveenkumar, additional, Besse, Céline, additional, Boland, Anne, additional, Sadlova, Jovana, additional, Deleuze, Jean-François, additional, Matondo, Mariette, additional, Unger, Ron, additional, Volf, Petr, additional, Michaeli, Shulamit, additional, Pescher, Pascale, additional, and Späth, Gerald F., additional
Published: 2021
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21. Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23

Author: Garnier, Sophie, primary, Harakalova, Magdalena, additional, Weiss, Stefan, additional, Mokry, Michal, additional, Regitz-Zagrosek, Vera, additional, Hengstenberg, Christian, additional, Cappola, Thomas P, additional, Isnard, Richard, additional, Arbustini, Eloisa, additional, Cook, Stuart A, additional, van Setten, Jessica, additional, Calis, Jorg J A, additional, Hakonarson, Hakon, additional, Morley, Michael P, additional, Stark, Klaus, additional, Prasad, Sanjay K, additional, Li, Jin, additional, O'Regan, Declan P, additional, Grasso, Maurizia, additional, Müller-Nurasyid, Martina, additional, Meitinger, Thomas, additional, Empana, Jean-Philippe, additional, Strauch, Konstantin, additional, Waldenberger, Melanie, additional, Marguiles, Kenneth B, additional, Seidman, Christine E, additional, Kararigas, Georgios, additional, Meder, Benjamin, additional, Haas, Jan, additional, Boutouyrie, Pierre, additional, Lacolley, Patrick, additional, Jouven, Xavier, additional, Erdmann, Jeanette, additional, Blankenberg, Stefan, additional, Wichter, Thomas, additional, Ruppert, Volker, additional, Tavazzi, Luigi, additional, Dubourg, Olivier, additional, Roizes, Gérard, additional, Dorent, Richard, additional, de Groote, Pascal, additional, Fauchier, Laurent, additional, Trochu, Jean-Noël, additional, Aupetit, Jean-François, additional, Bilinska, Zofia T, additional, Germain, Marine, additional, Völker, Uwe, additional, Hemerich, Daiane, additional, Raji, Ibticem, additional, Bacq-Daian, Delphine, additional, Proust, Carole, additional, Remior, Paloma, additional, Gomez-Bueno, Manuel, additional, Lehnert, Kristin, additional, Maas, Renee, additional, Olaso, Robert, additional, Saripella, Ganapathi Varma, additional, Felix, Stephan B, additional, McGinn, Steven, additional, Duboscq-Bidot, Laëtitia, additional, van Mil, Alain, additional, Besse, Céline, additional, Fontaine, Vincent, additional, Blanché, Hélène, additional, Ader, Flavie, additional, Keating, Brendan, additional, Curjol, Angélique, additional, Boland, Anne, additional, Komajda, Michel, additional, Cambien, François, additional, Deleuze, Jean-François, additional, Dörr, Marcus, additional, Asselbergs, Folkert W, additional, Villard, Eric, additional, Trégouët, David-Alexandre, additional, and Charron, Philippe, additional
Published: 2021
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22. Fine-mapping of two differentiated thyroid carcinoma susceptibility loci at 2q35 and 8p12 in Europeans, Melanesians and Polynesians

Author: Guibon, Julie, primary, Sugier, Pierre-Emmanuel, additional, Kulkarni, Om, additional, Karimi, Mojgan, additional, Bacq-Daian, Delphine, additional, Besse, Céline, additional, Boland, Anne, additional, Adjadj, Elisabeth, additional, Rachédi, Frédérique, additional, Rubino, Carole, additional, Xhaard, Constance, additional, Mulot, Claire, additional, Laurent-Puig, Pierre, additional, Guizard, Anne-Valérie, additional, Schvartz, Claire, additional, Ortiz, Rosa Maria, additional, Ren, Yan, additional, Ostroumova, Evgenia, additional, Deleuze, Jean-François, additional, Boutron-Ruault, Marie-Christine, additional, Kesminiene, Ausrele, additional, Vathaire, Florent De, additional, Guénel, Pascal, additional, Lesueur, Fabienne, additional, and Truong, Thérèse, additional
Published: 2021
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23. Evidence of Austronesian Genetic Lineages in East Africa and South Arabia: Complex Dispersal from Madagascar and Southeast Asia

Author: Brucato, Nicolas, primary, Fernandes, Veronica, additional, Kusuma, Pradiptajati, additional, Černý, Viktor, additional, Mulligan, Connie J, additional, Soares, Pedro, additional, Rito, Teresa, additional, Besse, Céline, additional, Boland, Anne, additional, Deleuze, Jean-Francois, additional, Cox, Murray P, additional, Sudoyo, Herawati, additional, Stoneking, Mark, additional, Pereira, Luisa, additional, and Ricaut, François-Xavier, additional
Published: 2019
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24. A high-resolution allelotype of B-cell chronic lymphocytic leukemia (B-CLL)

Author: Novak, Urban, Oppliger Leibundgut, Elisabeth, Hager, Jörg, Mühlematter, Dominique, Jotterand, Martine, Besse, Celine, Leupin, Nicolas, Ratschiller, Daniel, Papp, Jeanette, Kearsey, Gina, Aebi, Stefan, Graber, Hans, Jaggi, Rolf, Lüthi, Jean-Marc, Meyer-Monard, Sandrine, Lathrop, Mark, Tobler, Andreas, and Fey, Martin F.
Published: 2002
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25. Mutations and variants of ONECUT1in diabetes

Author: Philippi, Anne, Heller, Sandra, Costa, Ivan G., Senée, Valérie, Breunig, Markus, Li, Zhijian, Kwon, Gino, Russell, Ronan, Illing, Anett, Lin, Qiong, Hohwieler, Meike, Degavre, Anne, Zalloua, Pierre, Liebau, Stefan, Schuster, Michael, Krumm, Johannes, Zhang, Xi, Geusz, Ryan, Benthuysen, Jacqueline R., Wang, Allen, Chiou, Joshua, Gaulton, Kyle, Neubauer, Heike, Simon, Eric, Klein, Thomas, Wagner, Martin, Nair, Gopika, Besse, Céline, Dandine-Roulland, Claire, Olaso, Robert, Deleuze, Jean-François, Kuster, Bernhard, Hebrok, Matthias, Seufferlein, Thomas, Sander, Maike, Boehm, Bernhard O., Oswald, Franz, Nicolino, Marc, Julier, Cécile, and Kleger, Alexander
Abstract: Genes involved in distinct diabetes types suggest shared disease mechanisms. Here we show that One Cut Homeobox 1 (ONECUT1) mutations cause monogenic recessive syndromic diabetes in two unrelated patients, characterized by intrauterine growth retardation, pancreas hypoplasia and gallbladder agenesis/hypoplasia, and early-onset diabetes in heterozygous relatives. Heterozygous carriers of rare coding variants of ONECUT1define a distinctive subgroup of diabetic patients with early-onset, nonautoimmune diabetes, who respond well to diabetes treatment. In addition, common regulatory ONECUT1variants are associated with multifactorial type 2 diabetes. Directed differentiation of human pluripotent stem cells revealed that loss of ONECUT1 impairs pancreatic progenitor formation and a subsequent endocrine program. Loss of ONECUT1 altered transcription factor binding and enhancer activity and NKX2.2/NKX6.1 expression in pancreatic progenitor cells. Collectively, we demonstrate that ONECUT1 controls a transcriptional and epigenetic machinery regulating endocrine development, involved in a spectrum of diabetes, encompassing monogenic (recessive and dominant) as well as multifactorial inheritance. Our findings highlight the broad contribution of ONECUT1 in diabetes pathogenesis, marking an important step toward precision diabetes medicine.
Published: 2021
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26. Additional file 2: of Assessment of the prognostic role of a 94-single nucleotide polymorphisms risk score in early breast cancer in the SIGNAL/PHARE prospective cohort: no correlation with clinico-pathological characteristics and outcomes

Author: Curtit, Elsa, Pivot, Xavier, Henriques, Julie, Paget-Bailly, Sophie, Fumoleau, Pierre, Rios, Maria, Bonnefoi, Hervé, Bachelot, Thomas, Soulié, Patrick, Jouannaud, Christelle, Bourgeois, Hugues, Petit, Thierry, Tennevet, Isabelle, Assouline, David, Marie-Christine Mathieu, Jean-Philippe Jacquin, Lavau-Denes, Sandrine, Darut-Jouve, Ariane, Jean-Marc Ferrero, Tarpin, Carole, Lévy, Christelle, Delecroix, Valérie, Trillet-Lenoir, Véronique, Cojocarasu, Oana, Meunier, Jérôme, Jean-Yves Pierga, Kerbrat, Pierre, Faure-Mercier, Céline, Blanché, Hélène, Sahbatou, Mourad, Boland, Anne, Bacq, Delphine, Besse, Céline, Thomas, Gilles, Jean-François Deleuze, Pauporté, Iris, Romieu, Gilles, and Cox, David
Abstract: Supplementary methods. supplementary data on subject recruiting, blood collection, DNA extraction, genotyping and imputation. (DOCX 26 kb)
Published: 2017
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27. dUTPase (DUT) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure.

Author: Dos Santos, Reinaldo Sousa, Daures, Mathilde, Philippi, Anne, Romero, Sophie, Marselli, Lorella, Marchetti, Piero, Senée, Valérie, Bacq, Delphine, Besse, Céline, Baz, Baz, Marroquí, Laura, Ivanoff, Sarah, Masliah-Planchon, Julien, Nicolino, Marc, Soulier, Jean, Socié, Gérard, Eizirik, Decio L., Gautier, Jean-François, Julier, Cécile, Dos Santos, Reinaldo Sousa, Daures, Mathilde, Philippi, Anne, Romero, Sophie, Marselli, Lorella, Marchetti, Piero, Senée, Valérie, Bacq, Delphine, Besse, Céline, Baz, Baz, Marroquí, Laura, Ivanoff, Sarah, Masliah-Planchon, Julien, Nicolino, Marc, Soulier, Jean, Socié, Gérard, Eizirik, Decio L., Gautier, Jean-François, and Julier, Cécile
Abstract: We describe a new syndrome characterized by early-onset diabetes associated with bone marrow failure, affecting mostly the erythrocytic lineage. Using whole-exome sequencing in a remotely consanguineous patient from a family with two affected siblings, we identified a single homozygous missense mutation (chr15.hg19:g.48,626,619A>G) located in the dUTPase (DUT) gene (National Center for Biotechnology Information Gene ID 1854), affecting both the mitochondrial (DUT-M p.Y142C) and the nuclear (DUT-N p.Y54C) isoforms. We found the same homozygous mutation in an unrelated consanguineous patient with diabetes and bone marrow aplasia from a family with two affected siblings, whereas none of the >60,000 subjects from the Exome Aggregation Consortium (ExAC) was homozygous for this mutation. This replicated observation probability was highly significant, thus confirming the role of this DUT mutation in this syndrome. DUT is a key enzyme for maintaining DNA integrity by preventing misincorporation of uracil into DNA, which results in DNA toxicity and cell death. We showed that DUT silencing in human and rat pancreatic β-cells results in apoptosis via the intrinsic cell death pathway. Our findings support the importance of tight control of DNA metabolism for β-cell integrity and warrant close metabolic monitoring of patients treated by drugs affecting dUTP balance., SCOPUS: ar.j, info:eu-repo/semantics/published
Published: 2017

28. Assessment of the prognostic role of a 94-single nucleotide polymorphisms risk score in early breast cancer in the SIGNAL/PHARE prospective cohort: no correlation with clinico-pathological characteristics and outcomes

Author: Curtit, Elsa, primary, Pivot, Xavier, additional, Henriques, Julie, additional, Paget-Bailly, Sophie, additional, Fumoleau, Pierre, additional, Rios, Maria, additional, Bonnefoi, Hervé, additional, Bachelot, Thomas, additional, Soulié, Patrick, additional, Jouannaud, Christelle, additional, Bourgeois, Hugues, additional, Petit, Thierry, additional, Tennevet, Isabelle, additional, Assouline, David, additional, Mathieu, Marie-Christine, additional, Jacquin, Jean-Philippe, additional, Lavau-Denes, Sandrine, additional, Darut-Jouve, Ariane, additional, Ferrero, Jean-Marc, additional, Tarpin, Carole, additional, Lévy, Christelle, additional, Delecroix, Valérie, additional, Trillet-Lenoir, Véronique, additional, Cojocarasu, Oana, additional, Meunier, Jérôme, additional, Pierga, Jean-Yves, additional, Kerbrat, Pierre, additional, Faure-Mercier, Céline, additional, Blanché, Hélène, additional, Sahbatou, Mourad, additional, Boland, Anne, additional, Bacq, Delphine, additional, Besse, Céline, additional, Thomas, Gilles, additional, Deleuze, Jean-François, additional, Pauporté, Iris, additional, Romieu, Gilles, additional, and Cox, David G., additional
Published: 2017
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29. Genome-Wide Methylation Analysis Identifies Specific Epigenetic Marks In Severely Obese Children

Author: Fradin, Delphine, primary, Boëlle, Pierre-Yves, additional, Belot, Marie-Pierre, additional, Lachaux, Fanny, additional, Tost, Jorg, additional, Besse, Céline, additional, Deleuze, Jean-François, additional, De Filippo, Gianpaolo, additional, and Bougnères, Pierre, additional
Published: 2017
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30. dUTPase (DUT) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure

Author: Dos Santos, Reinaldo Sousa, primary, Daures, Mathilde, additional, Philippi, Anne, additional, Romero, Sophie, additional, Marselli, Lorella, additional, Marchetti, Piero, additional, Senée, Valérie, additional, Bacq, Delphine, additional, Besse, Céline, additional, Baz, Baz, additional, Marroquí, Laura, additional, Ivanoff, Sarah, additional, Masliah-Planchon, Julien, additional, Nicolino, Marc, additional, Soulier, Jean, additional, Socié, Gérard, additional, Eizirik, Decio L., additional, Gautier, Jean-François, additional, and Julier, Cécile, additional
Published: 2017
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31. Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility

Author: Grarup, Niels, Fox, Keolu, An, Ping, Li, Li, Hivert, Marie-France, Rasmussen-Torvik, Laura J, Lipovich, Leonard, Raghavan, Sridharan, Baldridge, Abigail S, Dauriz, Marco, Huffman, Jennifer E, Besse, Céline, Guo, Xiuqing, Bork-Jensen, Jette, Chu, Audrey Y, Hidalgo, Bertha, Hara, Kazuo, Fornage, Myriam, Yaghootkar, Hanieh, Willems, Sara M, Stančáková, Alena, Wessel, Jennifer, Abrol, Ravinder, Freitag, Daniel F, Wang, Shuai, Jakobsdottir, Johanna, Garcia, Melissa E, Lu, Yingchang, Brody, Jennifer A, Isaacs, Aaron, Boland, Anne, and Ehm, Margaret G
Abstract: Fasting glucose and insulin are intermediate traits for type 2 diabetes. Here we explore the role of coding variation on these traits by analysis of variants on the HumanExome BeadChip in 60,564 non-diabetic individuals and in 16,491 T2D cases and 81,877 controls. We identify a novel association of a low-frequency nonsynonymous SNV in GLP1R (A316T; rs10305492; MAF=1.4%) with lower FG (β=−0.09±0.01 mmol l−1, P=3.4 × 10−12), T2D risk (OR[95%CI]=0.86[0.76–0.96], P=0.010), early insulin secretion (β=−0.07±0.035 pmolinsulin mmolglucose−1, P=0.048), but higher 2-h glucose (β=0.16±0.05 mmol l−1, P=4.3 × 10−4). We identify a gene-based association with FG at G6PC2 (pSKAT=6.8 × 10−6) driven by four rare protein-coding SNVs (H177Y, Y207S, R283X and S324P). We identify rs651007 (MAF=20%) in the first intron of ABO at the putative promoter of an antisense lncRNA, associating with higher FG (β=0.02±0.004 mmol l−1, P=1.3 × 10−8). Our approach identifies novel coding variant associations and extends the allelic spectrum of variation underlying diabetes-related quantitative traits and T2D susceptibility. Both rare and common variants contribute to the aetiology of complex traits such as type 2 diabetes (T2D). Here, the authors examine the effect of coding variation on glycaemic traits and T2D, and identify low-frequency variation in GLP1R significantly associated with these traits.
Published: 2015
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32. Analysis with the exome array identifies multiple new independent variants in lipid loci

Author: Kanoni, Stavroula, Masca, Nicholas G D, Stirrups, Kathleen E, Varga, Tibor V, Warren, Helen R, Scott, Robert A, Southam, Lorraine, Zhang, Weihua, Yaghootkar, Hanieh, Müller-Nurasyid, Martina, Couto Alves, Alexessander, Strawbridge, Rona J, Lataniotis, Lazaros, An Hashim, Nikman, Besse, Céline, Boland, Anne, Braund, Peter S, Connell, John M, Dominiczak, Anna, Farmaki, Aliki-Eleni, Franks, Stephen, Grallert, Harald, Jansson, Jan-Håkan, Karaleftheri, Maria, Keinänen-Kiukaanniemi, Sirkka, Matchan, Angela, Pasko, Dorota, Peters, Annette, Poulter, Neil, Rayner, Nigel W, Renström, Frida, Rolandsson, Olov, Sabater-Lleal, Maria, Sennblad, Bengt, Sever, Peter, Shields, Denis, Silveira, Angela, Stanton, Alice V, Strauch, Konstantin, Tomaszewski, Maciej, Tsafantakis, Emmanouil, Waldenberger, Melanie, Blakemore, Alexandra I F, Dedoussis, George, Escher, Stefan A, Kooner, Jaspal S, McCarthy, Mark I, Palmer, Colin N A, Hamsten, Anders, Caulfield, Mark J, Frayling, Timothy M, Tobin, Martin D, Jarvelin, Marjo-Riitta, Zeggini, Eleftheria, Gieger, Christian, Chambers, John C, Wareham, Nick J, Munroe, Patricia B, Franks, Paul W, Samani, Nilesh J, Deloukas, Panos, Kanoni, Stavroula, Masca, Nicholas G D, Stirrups, Kathleen E, Varga, Tibor V, Warren, Helen R, Scott, Robert A, Southam, Lorraine, Zhang, Weihua, Yaghootkar, Hanieh, Müller-Nurasyid, Martina, Couto Alves, Alexessander, Strawbridge, Rona J, Lataniotis, Lazaros, An Hashim, Nikman, Besse, Céline, Boland, Anne, Braund, Peter S, Connell, John M, Dominiczak, Anna, Farmaki, Aliki-Eleni, Franks, Stephen, Grallert, Harald, Jansson, Jan-Håkan, Karaleftheri, Maria, Keinänen-Kiukaanniemi, Sirkka, Matchan, Angela, Pasko, Dorota, Peters, Annette, Poulter, Neil, Rayner, Nigel W, Renström, Frida, Rolandsson, Olov, Sabater-Lleal, Maria, Sennblad, Bengt, Sever, Peter, Shields, Denis, Silveira, Angela, Stanton, Alice V, Strauch, Konstantin, Tomaszewski, Maciej, Tsafantakis, Emmanouil, Waldenberger, Melanie, Blakemore, Alexandra I F, Dedoussis, George, Escher, Stefan A, Kooner, Jaspal S, McCarthy, Mark I, Palmer, Colin N A, Hamsten, Anders, Caulfield, Mark J, Frayling, Timothy M, Tobin, Martin D, Jarvelin, Marjo-Riitta, Zeggini, Eleftheria, Gieger, Christian, Chambers, John C, Wareham, Nick J, Munroe, Patricia B, Franks, Paul W, Samani, Nilesh J, and Deloukas, Panos
Abstract: It has been hypothesized that low frequency (1-5% minor allele frequency (MAF)) and rare (<1% MAF) variants with large effect sizes may contribute to the missing heritability in complex traits. Here, we report an association analysis of lipid traits (total cholesterol, LDL-cholesterol, HDL-cholesterol triglycerides) in up to 27 312 individuals with a comprehensive set of low frequency coding variants (ExomeChip), combined with conditional analysis in the known lipid loci. No new locus reached genome-wide significance. However, we found a new lead variant in 26 known lipid association regions of which 16 were >1000-fold more significant than the previous sentinel variant and not in close LD (six had MAF <5%). Furthermore, conditional analysis revealed multiple independent signals (ranging from 1 to 5) in a third of the 98 lipid loci tested, including rare variants. Addition of our novel associations resulted in between 1.5- and 2.5-fold increase in the proportion of heritability explained for the different lipid traits. Our findings suggest that rare coding variants contribute to the genetic architecture of lipid traits.
Published: 2016
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33. GWAS in the SIGNAL/PHARE clinical cohort restricts the association between the FGFR2 locus and estrogen receptor status to HER2-negative breast cancer patients

Author: Cox, David G., primary, Curtit, Elsa, additional, Romieu, Gilles, additional, Fumoleau, Pierre, additional, Rios, Maria, additional, Bonnefoi, Hervé, additional, Bachelot, Thomas, additional, Soulié, Patrick, additional, Jouannaud, Christelle, additional, Bourgeois, Hugues, additional, Petit, Thierry, additional, Tennevet, Isabelle, additional, Assouline, David, additional, Mathieu, Marie-Christine, additional, Jacquin, Jean-Philippe, additional, Lavau-Denes, Sandrine, additional, Darut-Jouve, Ariane, additional, Ferrero, Jean-Marc, additional, Tarpin, Carole, additional, Lévy, Christelle, additional, Delecroix, Valérie, additional, Trillet-Lenoir, Véronique, additional, Cojocarasu, Oana, additional, Meunier, Jérôme, additional, Pierga, Jean-Yves, additional, Faure-Mercier, Céline, additional, Blanché, Hélène, additional, Sahbatou, Mourad, additional, Boland, Anne, additional, Bacq, Delphine, additional, Besse, Céline, additional, Deleuze, Jean-François, additional, Pauporté, Iris, additional, Thomas, Gilles, additional, and Pivot, Xavier, additional
Published: 2016
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34. Corrigendum re “Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma” [Eur Urol 2017;72:747–54]

Author: Machiela, Mitchell J., Hofmann, Jonathan N., Carreras-Torres, Robert, Brown, Kevin M., Johansson, Mattias, Wang, Zhaoming, Foll, Matthieu, Li, Peng, Rothman, Nathaniel, Savage, Sharon A., Gaborieau, Valerie, McKay, James D., Ye, Yuanqing, Henrion, Marc, Bruinsma, Fiona, Jordan, Susan, Severi, Gianluca, Hveem, Kristian, Vatten, Lars J., Fletcher, Tony, Koppova, Kvetoslava, Larsson, Susanna C., Wolk, Alicja, Banks, Rosamonde E., Selby, Peter J., Easton, Douglas F., Pharoah, Paul, Andreotti, Gabriella, Freeman, Laura E. Beane, Koutros, Stella, Albanes, Demetrius, Mannisto, Satu, Weinstein, Stephanie, Clark, Peter E., Edwards, Todd E., Lipworth, Loren, Gapstur, Susan M., Stevens, Victoria L., Carol, Hallie, Freedman, Matthew L., Pomerantz, Mark M., Cho, Eunyoung, Kraft, Peter, Preston, Mark A., Wilson, Kathryn M., Gaziano, J. Michael, Sesso, Howard S., Black, Amanda, Freedman, Neal D., Huang, Wen-Yi, Anema, John G., Kahnoski, Richard J., Lane, Brian R., Noyes, Sabrina L., Petillo, David, Colli, Leandro M., Sampson, Joshua N., Besse, Celine, Blanche, Helene, Boland, Anne, Burdette, Laurie, Prokhortchouk, Egor, Skryabin, Konstantin G., Yeager, Meredith, Mijuskovic, Mirjana, Ognjanovic, Miodrag, Foretova, Lenka, Holcatova, Ivana, Janout, Vladimir, Mates, Dana, Mukeriya, Anush, Rascu, Stefan, Zaridze, David, Bencko, Vladimir, Cybulski, Cezary, Fabianova, Eleonora, Jinga, Viorel, Lissowska, Jolanta, Lubinski, Jan, Navratilova, Marie, Rudnai, Peter, Szeszenia-Dabrowska, Neonila, Benhamou, Simone, Cancel-Tassin, Geraldine, Cussenot, Olivier, Bueno-de-Mesquita, H.B(as)., Canzian, Federico, Duell, Eric J., Ljungberg, Börje, Sitaram, Raviprakash T., Peters, Ulrike, White, Emily, Anderson, Garnet L., Johnson, Lisa, Luo, Juhua, Buring, Julie, Lee, I-Min, Chow, Wong-Ho, Moore, Lee E., Wood, Christopher, Eisen, Timothy, Larkin, James, Choueiri, Toni K., Lathrop, G. Mark, Teh, Bin Tean, Deleuze, Jean-Francois, Wu, Xifeng, Houlston, Richard S., Brennan, Paul, Chanock, Stephen J., Scelo, Ghislaine, and Purdue, Mark P.
Published: 2018
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35. Major Loci on Chromosomes 8q and 3q Control Interferon γ Production Triggered by Bacillus Calmette-Guerin and 6-kDa Early Secretory Antigen Target, Respectively, in Various Populations

Author: Jabot-Hanin, Fabienne, primary, Cobat, Aurélie, additional, Feinberg, Jacqueline, additional, Grange, Ghislain, additional, Remus, Natascha, additional, Poirier, Christine, additional, Boland-Auge, Anne, additional, Besse, Céline, additional, Bustamante, Jacinta, additional, Boisson-Dupuis, Stéphanie, additional, Casanova, Jean-Laurent, additional, Schurr, Erwin, additional, Alcaïs, Alexandre, additional, Hoal, Eileen G., additional, Delacourt, Christophe, additional, and Abel, Laurent, additional
Published: 2015
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36. dUTPase ( ) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure.

Author: Dos Santos, Reinaldo Sousa, Daures, Mathilde, Philippi, Anne, Romero, Sophie, Marselli, Lorella, Marchetti, Piero, Senée, Valérie, Bacq, Delphine, Besse, Céline, Baz, Baz, Marroquí, Laura, Ivanoff, Sarah, Masliah-Planchon, Julien, Nicolino, Marc, Soulier, Jean, Socié, Gérard, Eizirik, Decio L., Gautier, Jean-François, and Julier, Cécile
Subjects: MONOGENIC functions, DIABETES, BONE marrow diseases, DNA, GENETIC mutation, RNA metabolism, ANIMALS, APLASTIC anemia, APOPTOSIS, CHEMISTRY, CONSANGUINITY, HEMOLYTIC anemia, HYDROLASES, ISLANDS of Langerhans, MOLECULAR structure, RATS, RNA, SYNDROMES, WESTERN immunoblotting, SEQUENCE analysis
Abstract: We describe a new syndrome characterized by early-onset diabetes associated with bone marrow failure, affecting mostly the erythrocytic lineage. Using whole-exome sequencing in a remotely consanguineous patient from a family with two affected siblings, we identified a single homozygous missense mutation (chr15.hg19:g.48,626,619A>G) located in the dUTPase (DUT) gene (National Center for Biotechnology Information Gene ID 1854), affecting both the mitochondrial (DUT-M p.Y142C) and the nuclear (DUT-N p.Y54C) isoforms. We found the same homozygous mutation in an unrelated consanguineous patient with diabetes and bone marrow aplasia from a family with two affected siblings, whereas none of the >60,000 subjects from the Exome Aggregation Consortium (ExAC) was homozygous for this mutation. This replicated observation probability was highly significant, thus confirming the role of this DUT mutation in this syndrome. DUT is a key enzyme for maintaining DNA integrity by preventing misincorporation of uracil into DNA, which results in DNA toxicity and cell death. We showed that DUT silencing in human and rat pancreatic β-cells results in apoptosis via the intrinsic cell death pathway. Our findings support the importance of tight control of DNA metabolism for β-cell integrity and warrant close metabolic monitoring of patients treated by drugs affecting dUTP balance. [ABSTRACT FROM AUTHOR]
Published: 2017
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37. Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness.

Author: Lagresle-Peyrou, Chantal, Six, Emmanuelle M, Picard, Claude, Rieux-Laucat, F, Micheli, V, Ditadi, Andrea, Demerens-de Chappedelaine, Corinne, Morillon, Estelle, Valensi, Françoise, Simon-Stoos, Karen L, Mullikin, James C, Noroski, Lenora M, Besse, Céline, Wulffraat, Nicolas M, Ferster, Alina, Abecasis, Manuel M, Calvo, F, Petit, Christine, Candotti, Fabio, Abel, L., Fischer, A., Cavazzana-Calvo, Marina, Lagresle-Peyrou, Chantal, Six, Emmanuelle M, Picard, Claude, Rieux-Laucat, F, Micheli, V, Ditadi, Andrea, Demerens-de Chappedelaine, Corinne, Morillon, Estelle, Valensi, Françoise, Simon-Stoos, Karen L, Mullikin, James C, Noroski, Lenora M, Besse, Céline, Wulffraat, Nicolas M, Ferster, Alina, Abecasis, Manuel M, Calvo, F, Petit, Christine, Candotti, Fabio, Abel, L., Fischer, A., and Cavazzana-Calvo, Marina
Abstract: Reticular dysgenesis is an autosomal recessive form of human severe combined immunodeficiency characterized by an early differentiation arrest in the myeloid lineage and impaired lymphoid maturation. In addition, affected newborns have bilateral sensorineural deafness. Here we identify biallelic mutations in AK2 (adenylate kinase 2) in seven individuals affected with reticular dysgenesis. These mutations result in absent or strongly decreased protein expression. We then demonstrate that restoration of AK2 expression in the bone marrow cells of individuals with reticular dysgenesis overcomes the neutrophil differentiation arrest, underlining its specific requirement in the development of a restricted set of hematopoietic lineages. Last, we establish that AK2 is specifically expressed in the stria vascularis region of the inner ear, which provides an explanation of the sensorineural deafness in these individuals. These results identify a previously unknown mechanism involved in regulation of hematopoietic cell differentiation and in one of the most severe human immunodeficiency syndromes., Journal Article, Research Support, N.I.H. Intramural, Research Support, Non-U.S. Gov't, SCOPUS: ar.j, info:eu-repo/semantics/published
Published: 2009

38. Lentiviral Transduction of CD34+ Cells Induces Genome-Wide Epigenetic Modifications

Author: Yamagata, Yoshiaki, primary, Parietti, Véronique, additional, Stockholm, Daniel, additional, Corre, Guillaume, additional, Poinsignon, Catherine, additional, Touleimat, Nizar, additional, Delafoy, Damien, additional, Besse, Céline, additional, Tost, Jörg, additional, Galy, Anne, additional, and Paldi, András, additional
Published: 2012
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39. Genome-Wide Linkage in a Highly Consanguineous Pedigree Reveals Two Novel Loci on Chromosome 7 for Non-Syndromic Familial Premature Ovarian Failure

Author: Caburet, Sandrine, primary, Zavadakova, Petra, additional, Ben-Neriah, Ziva, additional, Bouhali, Kamal, additional, Dipietromaria, Aurélie, additional, Charon, Céline, additional, Besse, Céline, additional, Laissue, Paul, additional, Chalifa-Caspi, Vered, additional, Christin-Maitre, Sophie, additional, Vaiman, Daniel, additional, Levi, Giovanni, additional, Veitia, Reiner A., additional, and Fellous, Marc, additional
Published: 2012
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40. Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease

Author: Bustamante, Jacinta, primary, Arias, Andres A, additional, Vogt, Guillaume, additional, Picard, Capucine, additional, Galicia, Lizbeth Blancas, additional, Prando, Carolina, additional, Grant, Audrey V, additional, Marchal, Christophe C, additional, Hubeau, Marjorie, additional, Chapgier, Ariane, additional, de Beaucoudrey, Ludovic, additional, Puel, Anne, additional, Feinberg, Jacqueline, additional, Valinetz, Ethan, additional, Jannière, Lucile, additional, Besse, Céline, additional, Boland, Anne, additional, Brisseau, Jean-Marie, additional, Blanche, Stéphane, additional, Lortholary, Olivier, additional, Fieschi, Claire, additional, Emile, Jean-François, additional, Boisson-Dupuis, Stéphanie, additional, Al-Muhsen, Saleh, additional, Woda, Bruce, additional, Newburger, Peter E, additional, Condino-Neto, Antonio, additional, Dinauer, Mary C, additional, Abel, Laurent, additional, and Casanova, Jean-Laurent, additional
Published: 2011
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41. Lentiviral transduction of CD34^+ cells induces genome-wide epigenetic modifications

Author: Parietti, Véronique, Stockholm, Daniel, Corre, Guillaume, Poinsignon, Catherine, Touleimat, Nizar, Delafoy, Damien, Besse, Céline, Tost, Jörg, Galy, Anne, and Paldi, András
Published: 2012

42. Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

Author: Lagresle-Peyrou, Chantal, primary, Six, Emmanuelle M, additional, Picard, Capucine, additional, Rieux-Laucat, Frédéric, additional, Michel, Vincent, additional, Ditadi, Andrea, additional, Chappedelaine, Corinne Demerens-de, additional, Morillon, Estelle, additional, Valensi, Françoise, additional, Simon-Stoos, Karen L, additional, Mullikin, James C, additional, Noroski, Lenora M, additional, Besse, Céline, additional, Wulffraat, Nicolas M, additional, Ferster, Alina, additional, Abecasis, Manuel M, additional, Calvo, Fabien, additional, Petit, Christine, additional, Candotti, Fabio, additional, Abel, Laurent, additional, Fischer, Alain, additional, and Cavazzana-Calvo, Marina, additional
Published: 2008
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43. Human Adenylate Kinase 2 Deficiency Causes a Profound Haematopoietic Defect Associated with Sensorineural Deafness

Author: Cavazzana-Calvo, Marina, primary, Lagresle-Peyrou, Chantal, additional, Six, Emmanuelle M, additional, Picard, Capucine, additional, Rieux-Laucat, Frederic, additional, Michel, Vincent, additional, Ditadi, Andrea, additional, Demerens-de-Chappedelaine, Corinne, additional, Morillon, Estelle, additional, Valensi, Françoise, additional, Simon-Stoos, Karen L, additional, Mullikin, James C, additional, Noroski, Lenora M, additional, Besse, Céline, additional, Wulffraat, Nicolas, additional, Ferster, Alina, additional, Abecasis, Manuel M, additional, Calvo, Fabien, additional, Petit, Christine, additional, Candotti, Fabio, additional, Abel, Laurent, additional, and Fischer, Alain, additional
Published: 2008
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44. Genome-wide association study identifies multiple risk loci for renal cell carcinoma

Author: Scelo, Ghislaine, Purdue, Mark P., Brown, Kevin M., Johansson, Mattias, Wang, Zhaoming, Eckel-Passow, Jeanette E., Ye, Yuanqing, Hofmann, Jonathan N., Choi, Jiyeon, Foll, Matthieu, Gaborieau, Valerie, Machiela, Mitchell J., Colli, Leandro M., Li, Peng, Sampson, Joshua N., Abedi-Ardekani, Behnoush, Besse, Celine, Blanche, Helene, Boland, Anne, Burdette, Laurie, Chabrier, Amelie, Durand, Geoffroy, Le Calvez-Kelm, Florence, Prokhortchouk, Egor, Robinot, Nivonirina, Skryabin, Konstantin G., Wozniak, Magdalena B., Yeager, Meredith, Basta-Jovanovic, Gordana, Dzamic, Zoran, Foretova, Lenka, Holcatova, Ivana, Janout, Vladimir, Mates, Dana, Mukeriya, Anush, Rascu, Stefan, Zaridze, David, Bencko, Vladimir, Cybulski, Cezary, Fabianova, Eleonora, Jinga, Viorel, Lissowska, Jolanta, Lubinski, Jan, Navratilova, Marie, Rudnai, Peter, Szeszenia-Dabrowska, Neonila, Benhamou, Simone, Cancel-Tassin, Geraldine, Cussenot, Olivier, Baglietto, Laura, Boeing, Heiner, Khaw, Kay-Tee, Weiderpass, Elisabete, Ljungberg, Borje, Sitaram, Raviprakash T., Bruinsma, Fiona, Jordan, Susan J., Severi, Gianluca, Winship, Ingrid, Hveem, Kristian, Vatten, Lars J., Fletcher, Tony, Koppova, Kvetoslava, Larsson, Susanna C., Wolk, Alicja, Banks, Rosamonde E., Selby, Peter J., Easton, Douglas F., Pharoah, Paul, Andreotti, Gabriella, Freeman, Laura E. Beane, Koutros, Stella, Albanes, Demetrius, Männistö, Satu, Weinstein, Stephanie, Clark, Peter E., Edwards, Todd L., Lipworth, Loren, Gapstur, Susan M., Stevens, Victoria L., Carol, Hallie, Freedman, Matthew L., Pomerantz, Mark M., Cho, Eunyoung, Kraft, Peter, Preston, Mark A., Wilson, Kathryn M., Michael Gaziano, J., Sesso, Howard D., Black, Amanda, Freedman, Neal D., Huang, Wen-Yi, Anema, John G., Kahnoski, Richard J., Lane, Brian R., Noyes, Sabrina L., Petillo, David, Teh, Bin Tean, Peters, Ulrike, White, Emily, Anderson, Garnet L., Johnson, Lisa, Luo, Juhua, Buring, Julie, Lee, I-Min, Chow, Wong-Ho, Moore, Lee E., Wood, Christopher, Eisen, Timothy, Henrion, Marc, Larkin, James, Barman, Poulami, Leibovich, Bradley C., Choueiri, Toni K., Mark Lathrop, G., Rothman, Nathaniel, Deleuze, Jean-Francois, McKay, James D., Parker, Alexander S., Wu, Xifeng, Houlston, Richard S., Brennan, Paul, and Chanock, Stephen J.
Abstract: Previous genome-wide association studies (GWAS) have identified six risk loci for renal cell carcinoma (RCC). We conducted a meta-analysis of two new scans of 5,198 cases and 7,331 controls together with four existing scans, totalling 10,784 cases and 20,406 controls of European ancestry. Twenty-four loci were tested in an additional 3,182 cases and 6,301 controls. We confirm the six known RCC risk loci and identify seven new loci at 1p32.3 (rs4381241, P=3.1 × 10−10), 3p22.1 (rs67311347, P=2.5 × 10−8), 3q26.2 (rs10936602, P=8.8 × 10−9), 8p21.3 (rs2241261, P=5.8 × 10−9), 10q24.33-q25.1 (rs11813268, P=3.9 × 10−8), 11q22.3 (rs74911261, P=2.1 × 10−10) and 14q24.2 (rs4903064, P=2.2 × 10−24). Expression quantitative trait analyses suggest plausible candidate genes at these regions that may contribute to RCC susceptibility.
Published: 2017
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45. Lentiviral Transduction of CD34+ Cells Induces Genome-Wide Epigenetic Modifications.

Author: Yamagata, Yoshiaki, Parietti, Véronique, Stockholm, Daniel, Corre, Guillaume, Poinsignon, Catherine, Touleimat, Nizar, Delafoy, Damien, Besse, Céline, Tost, Jörg, Galy, Anne, and Paldi, András
Subjects: NEURONS, ASTROCYTES, NEUROGLIA, GLUCOSE, NEUROTRANSMITTERS, CEREBRAL circulation
Abstract: Epigenetic modifications may occur during in vitro manipulations of stem cells but these effects have remained unexplored in the context of cell and gene therapy protocols. In an experimental model of ex vivo gene modification for hematopoietic gene therapy, human CD34+ cells were cultured shortly in the presence of cytokines then with a gene transfer lentiviral vector (LV) expected to transduce cells but to have otherwise limited biological effects on the cells. At the end of the culture, the population of cells remained largely similar at the phenotypic level but some epigenetic changes were evident. Exposure of CD34+ cells to cytokines increased nuclear expression of epigenetic regulators SIRT1 or DNMT1 and caused genome-wide DNA methylation changes. Surprisingly, the LV caused additional and distinct effects. Large-scale genomic DNA methylation analysis showed that balanced methylation changes occurred in about 200 genes following culture of CD34+ cells in the presence of cytokines but 900 genes were modified following addition of the LV, predominantly increasing CpG methylation. Epigenetic effects resulting from ex vivo culture and from the use of LV may constitute previously unsuspected sources of biological effects in stem cells and may provide new biomarkers to rationally optimize gene and cell therapy protocols. [ABSTRACT FROM AUTHOR]
Published: 2012
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46. New insights on the genetic etiology of Alzheimer’s and related dementia

Author: Bellenguez, Céline, Küçükali, Fahri, Jansen, Iris, Andrade, Victor, Moreno-Grau, Sonia, Amin, Najaf, Naj, Adam C., Grenier-Boley, Benjamin, Campos-Martin, Rafael, Holmans, Peter A., Boland, Anne, Kleineidam, Luca, Damotte, Vincent, van der Lee, Sven J., Kuulasmaa, Teemu, Yang, Qiong, de Rojas, Itziar, Bis, Joshua C., Yaqub, Amber, Prokic, Ivana, Costa, Marcos R, Chapuis, Julien, Ahmad, Shahzad, Giedraitis, Vilmantas, Boada, Mercè, Aarsland, Dag, García-González, Pablo, Abdelnour, Carla, Alarcón-Martín, Emilio, Alegret, Montserrat, Alvarez, Ignacio, Álvarez, Victoria, Armstrong, Nicola J., Tsolaki, Anthoula, Antúnez, Carmen, Appollonio, Ildebrando, Arcaro, Marina, Archetti, Silvana, Pastor, Alfonso Arias, Arosio, Beatrice, Athanasiu, Lavinia, Bailly, Henri, Banaj, Nerisa, Baquero, Miquel, Belén Pastor, Ana, Benussi, Luisa, Berr, Claudine, Besse, Céline, Bessi, Valentina, Binetti, Giuliano, Bizzarro, Alessandra, Alcolea, Daniel, Blesa, Rafael, Borroni, Barbara, Boschi, Silvia, Bossù, Paola, Bråthen, Geir, Bresner, Catherine, Brookes, Keeley J., Brusco, Luis Ignacio, Bûrger, Katharina, Bullido, María J., Burholt, Vanessa, Bush, William S., Calero, Miguel, Dufouil, Carole, Carracedo, Ángel, Cecchetti, Roberta, Cervera-Carles, Laura, Charbonnier, Camille, Chillotti, Caterina, Brodaty, Henry, Ciccone, Simona, Claassen, Jurgen A.H.R., Clark, Christopher, Conti, Elisa, Corma-Gómez, Anaïs, Costantini, Emanuele, Custodero, Carlo, Daian, Delphine, Dalmasso, Maria Carolina, Daniele, Antonio, Dardiotis, Efthimios, Dartigues, Jean-François, de Deyn, Peter Paul, de Paiva Lopes, Katia, de Witte, Lot D., Debette, Stéphanie, Deckert, Jürgen, del Ser, Teodoro, Denning, Nicola, DeStefano, Anita, Dichgans, Martin, Diehl-Schmid, Janine, Diez-Fairen, Mónica, Rossi, Paolo Dionigi, Djurovic, Srdjan, Duron, Emmanuelle, Düzel, Emrah, Engelborghs, Sebastiaan, Escott-Price, Valentina, Espinosa, Ana, Buiza-Rueda, Dolores, Ewers, Michael, Tagliavini, Fabrizio, Nielsen, Sune Fallgaard, Farotti, Lucia, Fenoglio, Chiara, Fernández-Fuertes, Marta, Hardy, John, Ferrari, Raffaele, Ferreira, Catarina B, Ferri, Evelyn, Fin, Bertrand, Fischer, Peter, Fladby, Tormod, Fließbach, Klaus, Fortea, Juan, Fostinelli, Silvia, Fox, Nick C., Franco-Macías, Emlio, Frank-García, Ana, Froelich, Lutz, Galimberti, Daniela, García-Alberca, Jose Maria, Garcia-Madrona, Sebastian, García-Ribas, Guillermo, Chene, Geneviève, Ghidoni, Roberta, Giegling, Ina, Giaccone, Giorgio, Goldhardt, Oliver, González-Pérez, Antonio, Graff, Caroline, Grande, Giulia, Green, Emma, Grimmer, Timo, Grünblatt, Edna, Guetta-Baranes, Tamar, Haapasalo, Annakaisa, Hadjigeorgiou, Georgios, Haines, Jonathan L., Hamilton-Nelson, Kara L., Hampel, Harald, Hanon, Olivier, Hartmann, Annette M., Hausner, Lucrezia, Harwood, Janet, Heilmann-Heimbach, Stefanie, Helisalmi, Seppo, Heneka, Michael T., Hernández, Isabel, Herrmann, Martin J., Hoffmann, Per, Holmes, Clive, Holstege, Henne, Vilas, Raquel Huerto, Hulsman, Marc, Humphrey, Jack, Biessels, Geert Jan, Johansson, Charlotte, Kehoe, Patrick G., Kilander, Lena, Ståhlbom, Anne Kinhult, Kivipelto, Miia, Koivisto, Anne, Kornhuber, Johannes, Kosmidis, Mary H., Kuksa, Pavel P., Kunkle, Brian W., Lage, Carmen, Laukka, Erika J, Lauria, Alessandra, Lee, Chien-Yueh, Lehtisalo, Jenni, Satizabal, Claudia L., Lerch, Ondrej, Lleó, Alberto, Lopez, Rogelio, Lopez, Oscar, de Munain, Adolfo Lopez, Love, Seth, Löwemark, Malin, Luckcuck, Lauren, Macías, Juan, MacLeod, Catherine A., Maier, Wolfgang, Mangialasche, Francesca, Spallazzi, Marco, Marquié, Marta, Marshall, Rachel, Martin, Eden R., Martín Montes, Angel, Rodríguez, Carmen Martínez, Masullo, Carlo, Mayeux, Richard, Mead, Simon, Mecocci, Patrizia, Medina, Miguel, Meggy, Alun, Mendoza, Silvia, Menéndez-González, Manuel, Mir, Pablo, Periñán, Maria Teresa, Mol, Merel, Molina-Porcel, Laura, Montrreal, Laura, Morelli, Laura, Moreno, Fermín, Morgan, Kevin, Nöthen, Markus M., Muchnik, Carolina, Nacmias, Benedetta, Ngandu, Tiia, Nicolas, Gael, Nordestgaard, Børge G., Olaso, Robert, Orellana, Adelina, Orsini, Michela, Ortega, Gemma, Padovani, Alessandro, Caffarra, Paolo, Papenberg, Goran, Parnetti, Lucilla, Pasquier, Florence, Pastor, Pau, Pérez-Cordón, Alba, Pérez-Tur, Jordi, Pericard, Pierre, Peters, Oliver, Pijnenburg, Yolande A.L., Pineda, Juan A, Piñol-Ripoll, Gerard, Pisanu, Claudia, Polak, Thomas, Popp, Julius, Posthuma, Danielle, Priller, Josef, Puerta, Raquel, Quenez, Olivier, Quintela, Inés, Thomassen, Jesper Qvist, Rábano, Alberto, Rainero, Innocenzo, Ramakers, Inez, Real, Luis M, Reinders, Marcel J.T., Riedel-Heller, Steffi, Riederer, Peter, Rodriguez-Rodriguez, Eloy, Rongve, Arvid, Allende, Irene Rosas, Rosende-Roca, Maitée, Royo, Jose Luis, Rubino, Elisa, Rujescu, Dan, Sáez, María Eugenia, Sakka, Paraskevi, Saltvedt, Ingvild, Sanabria, Ángela, Sánchez-Arjona, María Bernal, Sanchez-Garcia, Florentino, Mehrabian, Shima, Sánchez-Juan, Pascual, Sánchez-Valle, Raquel, Sando, Sigrid B, Scamosci, Michela, Scarmeas, Nikolaos, Scarpini, Elio, Scheltens, Philip, Scherbaum, Norbert, Scherer, Martin, Schmid, Matthias, Schneider, Anja, Schott, Jonathan M., Selbæk, Geir, Sha, Jin, Shadrin, Alexey A, Skrobot, Olivia, Snijders, Gijsje J. L., Soininen, Hilkka, Solfrizzi, Vincenzo, Solomon, Alina, Sorbi, Sandro, Sotolongo-Grau, Oscar, Spalletta, Gianfranco, Spottke, Annika, Squassina, Alessio, Tartari, Juan Pablo, Tárraga, Lluís, Tesí, Niccolo, Thalamuthu, Anbupalam, Tegos, Thomas, Traykov, Latchezar, Tremolizzo, Lucio, Tybjærg-Hansen, Anne, Uitterlinden, Andre, Ullgren, Abbe, Ulstein, Ingun, Valero, Sergi, Van Broeckhoven, Christine, van der Lugt, Aad, Van Dongen, Jasper, van Rooij, Jeroen, van Swieten, John, Vandenberghe, Rik, Verhey, Frans, Vidal, Jean-Sébastien, Vogelgsang, Jonathan, Vyhnalek, Martin, Wagner, Michael, Wallon, David, Wang, Li-San, Wang, Ruiqi, Weinhold, Leonie, Wiltfang, Jens, Windle, Gill, Woods, Bob, Yannakoulia, Mary, Zhao, Yi, Zulaica, Miren, Serrano-Rios, Manuel, Seripa, Davide, Stordal, Eystein, Farrer, Lindsay A., Psaty, Bruce M., Ghanbari, Mohsen, Raj, Towfique, Sachdev, Perminder, Mather, Karen, Jessen, Frank, Ikram, M. Arfan, de Mendonça, Alexandre, Hort, Jakub, Tsolaki, Magda, Pericak-Vance, Margaret A., Amouyel, Philippe, Williams, Julie, Frikke-Schmidt, Ruth, Clarimon, Jordi, Deleuze, Jean-François, Rossi, Giacomina, Seshadri, Sudha, Andreassen, Ole A., Ingelsson, Martin, Hiltunen, Mikko, Sleegers, Kristel, Schellenberg, Gerard D., van Duijn, Cornelia M., Sims, Rebecca, van der Flier, Wiesje M., Ruiz, Agustín, Ramirez, Alfredo, and Lambert, Jean-Charles
Subjects: 0303 health sciences, Microglia, Amyloid, business.industry, Disease, medicine.disease, Bioinformatics, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Genetic etiology, Medicine, Dementia, Egfr signaling, business, Gene, 030217 neurology & neurosurgery, 030304 developmental biology, Genetic association
Abstract: Alzheimer’s disease (AD) is a severe and incurable neurodegenerative disease, and the failure to find effective treatments suggests that the underlying pathology remains poorly understood. Due to its strong heritability, deciphering the genetic landscape of AD and related dementia (ADD) is a unique opportunity to advance our knowledge. We completed a meta-analysis of genome-wide association studies (39,106 clinically AD-diagnosed cases, 46,828 proxy-ADD cases and 401,577 controls) with the most promising signals followed-up in 25,392 independent AD cases and 276,086 controls. We report 75 risk loci for ADD, including 42 novel ones. Pathway-enrichment analyses confirm the involvement of amyloid/Tau pathways, highlight the role of microglia and its potential interaction with APP metabolism. Numerous genes exhibited differential expression or splicing in AD-related conditions and gene prioritization implies EGFR signaling and TNF-α pathway through LUBAC complex. We also generated a novel polygenic risk score strongly associated with the risk of future dementia or progression from mild cognitive impairment to dementia. In conclusion, by more than doubling the number of loci associated with ADD risk, our study offers new insights into the pathophysiological processes underlying AD and offers additional therapeutic entry-points and tools for translational genomics.
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47. A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus

Author: Mobuchon, Lenha, Battistella, Aude, Bardel, Claire, Scelo, Ghislaine, Renoud, Alexia, Houy, Alexandre, Cassoux, Nathalie, Milder, Maud, Cancel-Tassin, Géraldine, Cussenot, Olivier, Delattre, Olivier, Besse, Céline, Boland, Anne, Deleuze, Jean-François, Cox, David G., and Stern, Marc-Henri
Subjects: Genetics, Medicine, sense organs, QH426-470, eye diseases, Article
Abstract: Uveal melanoma, a rare malignant tumor of the eye, is predominantly observed in populations of European ancestry. A genome-wide association study of 259 uveal melanoma patients compared to 401 controls all of European ancestry revealed a candidate locus at chromosome 5p15.33 (region rs421284: OR = 1.7, CI 1.43–2.05). This locus was replicated in an independent set of 276 cases and 184 controls. In addition, risk variants from this region were positively associated with higher expression of CLPTM1L. In conclusion, the CLPTM1L region contains risk alleles for uveal melanoma susceptibility, suggesting that CLPTM1L could play a role in uveal melanoma oncogenesis., Cancer: Risk allele identified for melanoma of the eye Researchers have discovered an important genetic risk variant linked to uveal melanoma, a rare malignant tumor of the eye. Marc-Henri Stern from Institut Curie in Paris, France, and colleagues compared more than 860,000 single DNA variants covering the entire genome, from the genomes of 259 people with uveal melanoma and 401 healthy controls, all of whom were of European ancestry. The researchers found that a series of closely linked gene variants on the short arm of chromosome 5 were significantly more common in the melanoma patients. They confirmed the association between this genomic region and disease risk in an independent cohort of 276 cancer cases and 184 controls. Expression analyses showed that the CLPTM1L gene contained in this region was more expressed in people with the risk variants, pointing to CLPTM1L playing a role in tumor development.
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48. A novel rare c.-39C>T mutation in the PROS1 5'UTR causing PS deficiency by creating a new upstream translation initiation codon.

Author: Labrouche-Colomer S, Soukarieh O, Proust C, Mouton C, Huguenin Y, Roux M, Besse C, Boland A, Olaso R, Constans J, Deleuze JF, Morange PE, Jaspard-Vinassa B, and Trégouët DA
Subjects: Base Sequence, Female, HeLa Cells, Humans, Male, Pedigree, Young Adult, 5' Untranslated Regions genetics, Codon, Initiator genetics, Mutation genetics, Protein Biosynthesis, Protein S genetics, Protein S Deficiency genetics
Abstract: Autosomal dominant inherited Protein S deficiency (PSD) (MIM 612336) is a rare disorder caused by rare mutations, mainly located in the coding sequence of the structural PROS1 gene, and associated with an increased risk of venous thromboembolism. To identify the molecular defect underlying PSD observed in an extended French pedigree with seven PSD affected members in whom no candidate deleterious PROS1 mutation was detected by Sanger sequencing of PROS1 exons and their flanking intronic regions or via an multiplex ligation-dependent probe amplification (MLPA) approach, a whole genome sequencing strategy was adopted. This led to the identification of a never reported C to T substitution at c.-39 from the natural ATG codon of the PROS1 gene that completely segregates with PSD in the whole family. This substitution ACG→ATG creates a new start codon upstream of the main ATG. We experimentally demonstrated in HeLa cells that the variant generates a novel overlapping upstream open reading frame (uORF) and inhibits the translation of the wild-type PS. This work describes the first example of 5'UTR PROS1 mutation causing PSD through the creation of an uORF, a mutation that is not predicted to be deleterious by standard annotation softwares, and emphasizes the need for better exploration of such type of non-coding variations in clinical genomics., (© 2020 The Author(s).)
Published: 2020
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49. Analysis with the exome array identifies multiple new independent variants in lipid loci.

Author: Kanoni S, Masca NG, Stirrups KE, Varga TV, Warren HR, Scott RA, Southam L, Zhang W, Yaghootkar H, Müller-Nurasyid M, Couto Alves A, Strawbridge RJ, Lataniotis L, An Hashim N, Besse C, Boland A, Braund PS, Connell JM, Dominiczak A, Farmaki AE, Franks S, Grallert H, Jansson JH, Karaleftheri M, Keinänen-Kiukaanniemi S, Matchan A, Pasko D, Peters A, Poulter N, Rayner NW, Renström F, Rolandsson O, Sabater-Lleal M, Sennblad B, Sever P, Shields D, Silveira A, Stanton AV, Strauch K, Tomaszewski M, Tsafantakis E, Waldenberger M, Blakemore AI, Dedoussis G, Escher SA, Kooner JS, McCarthy MI, Palmer CN, Hamsten A, Caulfield MJ, Frayling TM, Tobin MD, Jarvelin MR, Zeggini E, Gieger C, Chambers JC, Wareham NJ, Munroe PB, Franks PW, Samani NJ, and Deloukas P
Subjects: Adolescent, Adult, Aged, Child, Cholesterol, HDL blood, Cholesterol, LDL blood, Exome genetics, Gene Frequency, Genome-Wide Association Study, Humans, Lipids blood, Middle Aged, Polymorphism, Single Nucleotide, Triglycerides blood, Triglycerides genetics, White People, Cholesterol, HDL genetics, Cholesterol, LDL genetics, Lipid Metabolism genetics, Lipids genetics
Abstract: It has been hypothesized that low frequency (1-5% minor allele frequency (MAF)) and rare (<1% MAF) variants with large effect sizes may contribute to the missing heritability in complex traits. Here, we report an association analysis of lipid traits (total cholesterol, LDL-cholesterol, HDL-cholesterol triglycerides) in up to 27 312 individuals with a comprehensive set of low frequency coding variants (ExomeChip), combined with conditional analysis in the known lipid loci. No new locus reached genome-wide significance. However, we found a new lead variant in 26 known lipid association regions of which 16 were >1000-fold more significant than the previous sentinel variant and not in close LD (six had MAF <5%). Furthermore, conditional analysis revealed multiple independent signals (ranging from 1 to 5) in a third of the 98 lipid loci tested, including rare variants. Addition of our novel associations resulted in between 1.5- and 2.5-fold increase in the proportion of heritability explained for the different lipid traits. Our findings suggest that rare coding variants contribute to the genetic architecture of lipid traits., (© The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.)
Published: 2016
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50. Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness.

Author: Lagresle-Peyrou C, Six EM, Picard C, Rieux-Laucat F, Michel V, Ditadi A, Demerens-de Chappedelaine C, Morillon E, Valensi F, Simon-Stoos KL, Mullikin JC, Noroski LM, Besse C, Wulffraat NM, Ferster A, Abecasis MM, Calvo F, Petit C, Candotti F, Abel L, Fischer A, and Cavazzana-Calvo M
Subjects: Adenylate Kinase genetics, Adenylate Kinase metabolism, Animals, Cell Differentiation, Cell Line, Ear, Inner enzymology, Ear, Inner pathology, Female, Gene Expression Regulation, Enzymologic, Hearing Loss, Sensorineural genetics, Humans, Infant, Newborn, Isoenzymes genetics, Isoenzymes metabolism, Male, Mice, Mutation genetics, Neutrophils pathology, Pedigree, Protein Transport, Severe Combined Immunodeficiency complications, Severe Combined Immunodeficiency enzymology, Severe Combined Immunodeficiency genetics, Severe Combined Immunodeficiency immunology, Adenylate Kinase deficiency, Hearing Loss, Sensorineural complications, Hearing Loss, Sensorineural enzymology, Hematopoietic System pathology, Isoenzymes deficiency
Abstract: Reticular dysgenesis is an autosomal recessive form of human severe combined immunodeficiency characterized by an early differentiation arrest in the myeloid lineage and impaired lymphoid maturation. In addition, affected newborns have bilateral sensorineural deafness. Here we identify biallelic mutations in AK2 (adenylate kinase 2) in seven individuals affected with reticular dysgenesis. These mutations result in absent or strongly decreased protein expression. We then demonstrate that restoration of AK2 expression in the bone marrow cells of individuals with reticular dysgenesis overcomes the neutrophil differentiation arrest, underlining its specific requirement in the development of a restricted set of hematopoietic lineages. Last, we establish that AK2 is specifically expressed in the stria vascularis region of the inner ear, which provides an explanation of the sensorineural deafness in these individuals. These results identify a previously unknown mechanism involved in regulation of hematopoietic cell differentiation and in one of the most severe human immunodeficiency syndromes.
Published: 2009
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