Multiomic integration analysis identifies atherogenic metabolites mediating between novel immune genes and cardiovascular risk

Autor: Robert Carreras-Torres, Iván Galván-Femenía, Xavier Farré, Beatriz Cortés, Virginia Díez-Obrero, Anna Carreras, Ferran Moratalla-Navarro, Susana Iraola-Guzmán, Natalia Blay, Mireia Obón-Santacana, Víctor Moreno, Rafael de Cid

Publikováno v: Genome Medicine, Vol 16, Iss 1, Pp 1-22 (2024)

Abstract Background Understanding genetic-metabolite associations has translational implications for informing cardiovascular risk assessment. Interrogating functional genetic variants enhances our understanding of disease pathogenesis and the develo

Externí odkaz: https://doaj.org/article/4eeb0f9eb5014441b907ed726ca6ad42

The chromatin network helps prevent cancer-associated mutagenesis at transcription-replication conflicts

Autor: Aleix Bayona-Feliu, Emilia Herrera-Moyano, Nibal Badra-Fajardo, Iván Galván-Femenía, María Eugenia Soler-Oliva, Andrés Aguilera

Publikováno v: Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)

Abstract Genome instability is a feature of cancer cells, transcription being an important source of DNA damage. This is in large part associated with R-loops, which hamper replication, especially at head-on transcription-replication conflicts (TRCs)

Externí odkaz: https://doaj.org/article/813890087e994b3387dab47b526b0ac3

Trial of Three Rounds of Mass Azithromycin Administration for Yaws Eradication

Autor: Lucy N. John, Camila G. Beiras, Wendy Houinei, Monica Medappa, Maria Sabok, Reman Kolmau, Eunice Jonathan, Edward Maika, James K. Wangi, Petra Pospíšilová, David Šmajs, Dan Ouchi, Iván Galván-Femenía, Mathew A. Beale, Lorenzo Giacani, Bonaventura Clotet, Eric Q. Mooring, Michael Marks, Martí Vall-Mayans, Oriol Mitjà

Publikováno v: The New England journal of medicine
New England Journal of Medicine
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname

BACKGROUND: Treponema pallidum subspecies pertenue causes yaws. Strategies to better control, eliminate, and eradicate yaws are needed. METHODS: In an open-label, cluster-randomized, community-based trial conducted in a yaws-endemic area of Papua New

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d76639665ed5ebf80888baeb37eb405a
https://pubmed.ncbi.nlm.nih.gov/34986286

Detailed stratified GWAS analysis for severe COVID-19 in four European populations

Autor: Michela Mazzocco, Giuseppe Lamorte, Leonardo Terranova, Cinzia Hu, Xavier Farré, Yascha Khodamoradi, Mauro D'Amato, Christian Herr, David Jiménez, Filippo Martinelli-Boneschi, Anna Latiano, Michael Dreher, Mariella D'Angiò, Rossana Carpani, Francesco Malvestiti, Enrique Navas, Antonio Voza, Anne Ma Dyrhol-Riise, Karina Banasik, Juan Delgado, Florian Kurth, Trinidad Gonzalez Cejudo, Lars Wienbrandt, Carmen de la Horrra, May Sissel Vadla, Aurora Solier, Koldo Garcia-Etxebarria, Karoline I. Gaede, Wolfgang Poller, Eloisa Urrechaga, Paolo Bonfanti, Philipp Schommers, Giuseppe Bellelli, Zehra Karadeniz, Jan Kristian Rybniker, Lisa Knopp, Alfredo Ramirez, Jesus M. Banales, Sibylle Wilfling, Elio Scarpini, Alberto Zanella, Anna Carreras Nolla, Joaquín Dopazo, Sara Pigazzini, Nicole Ludwig, Ingo Kurth, Sandra Ciesek, Dag Arne Lihaug Hoff, Ernesto Contro, Giacomo Grasselli, Maider Intxausti, Kari Risnes, Francisco Mesonero, Thorsten Brenner, Lena J Lippert, Adolfo de Salazar, Maria A. Gutierrez-Stampa, Aaron Blandino Ortiz, María Hernández-Tejero, Rosa Nieto, Jochen Schneider, Anke Hinney, Chiara Scollo, Ariadna Rando-Segura, Victor Moreno, Phillip Suwalski, Valeria Rimoldi, Ricard Ferrer, Jon Lerga-Jaso, Claudio Cappadona, Janine Altmueller, Mahnoosh Ostadreza, Verena Keitel, Lauro Sumoy, Eunate Arana, Annalisa Cavallero, Massimo Castoldi, Stephan Ripke, Antonio Muscatello, Maria J G T Vehreschild, Michael Wittig, Robert Bals, Verena Kopfnagel, David Haschka, Luis Téllez, Heinz Zoller, Isabel Hernández, Carla Bellinghausen, Agustín Ruiz, Manuel Romero-Gómez, Malte C. Ruehlemann, Nikolaus Marx, Luigi Santoro, Silvano Bosari, Carlos Ferrando, M.A. Rodríguez-Gandía, Ronny Myhre, Aleksander Rygh Holten, Marina Elena Cazzaniga, Andreas Lind, Pedro M. Rodrigues, Giacomo Bellani, Alice Braun, Clara Lehmann, Anna Ludovica Fracanzani, Soumya Raychaudhuri, Trine Folseraas, Kerstin U. Ludwig, Lindokuhle Nkambule, Gianni Pezzoli, Julia Kraft, Rocío Gallego-Durán, David Ellinghaus, Rosanna Asselta, Simonas Juzenas, Max Augustin, Mari Niemi, Manolis Kogevinas, Carlo Maj, Serena Pelusi, Stefano Aliberti, Rafael de Cid, Selina Rolker, Victor Andrade, Jonas Bergan, Federico García, Tobias L. Lenz, Andrea Gori, Maria Grazia Valsecchi, Elisa T Helbig, Oliver A. Cornely, Laura Izquierdo-Sanchez, Tom H. Karlsen, Adolfo Garrido Chercoles, Joan Ramon Badia, José Hernández Quero, Benedikt Schaefer, Jatin Arora, Mareike Wendorff, David Pestaña, Thomas Bahmer, Ana Teles, Antonella Ruello, Alessio Gerussi, Francisco J. Medrano, Xiaomin Wang, Joern Walter, Natale Imaz Ayo, Onur oezer, Almut Nebel, Ferruccio Ceriotti, Mercè Boada, Ulf Landmesser, Ana Lleo, Christoph D. Spinner, Sara Bombace, Giuseppe Foti, Antonio Julià, Alessandro Cherubini, Lucia Garbarino, Beatriz Nafria-Jimenez, Hesham ElAbd, Pietro Invernizzi, Paola Faverio, Jordi Barretina, David Toapanta, Iván Galván-Femenía, Sara Marsal, Stefano Duga, Ulrike Protzer, Luisa Roade, Philipp Koehler, Nilda Martinez, Clinton Azuure, Philip Rosenstiel, Daniela Galimberti, Per Hoffmann, Alessandra Bandera, Natalia Blay, Jan Cato Holter, Julia Fazaal, Eike Matthias Wacker, Torsten Feldt, Giovanni Albano, Andre Franke, Mario Cáceres, Roberta Gualtierotti, Sebastian J. Klein, Andreas Glueck, Salvatore Badalamenti, Siegfried Goerg, Isabell Pink, Stefan Schreiber, Leif E. Sander, Javier Fernández, M Seilmaier, Orazio Palmieri, Carsten Skurk, Jan Heyckendorf, Adriana Palom, Stefanie Heilmann-Heimbach, Francesco Blasi, Ilaria My, Mattia Cordioli, Sammra Haider, Giorgio Costantino, Giuseppe Citerio, Nicola Montano, Pedro Castro, Marit Mæhle Grimsrud, Alexander Popov, Ole Bernt Lenning, Holger Neb, Enric Reverter, Erik Solligård, Oliver Witzke, Itziar de Rojas, Flora Peyvandi, Susanne Gjeruldsen Dudman, Daniele Prati, Kristian Tonby, Luca Valenti, Christoph Lange, Alberto Mantovani, Florian Tran, Juan M. Guerrero, Luis Bujanda, Natalia Chueca, Michael Joannidis, Enrique J. Calderon, Elvezia Maria Paraboschi, Vegard Skogen, Bjoern Jensen, Paolo Tentorio, Raúl de Pablo, Cristiana Bianco, Antonio Pesenti, Vicente Friaza, Lars Heggelund, Eva C. Schulte, Markus M. Noethen, Andrea Ganna, Agustín Albillos, Laura Rachele Bettini, Florian Uellendahl-Werth, Covid Aachen Study, Josune Goikoetxea, Jan Kristian Damås, Andrea Biondi, Cristina Sancho, Alessandro Protti, Bettina Heidecker, Ute Hehr, Markus Cornberg, Lise Tuset Gustad, Ana Barreira, Emanuele Pontali, Felix Garcia Sanchez, Johannes R. Hov, Marta Marquié, Maria Buti, Sandra May, Melissa Tomasi, Javier Ampuero, Søren Brunak, Carmen Quereda, Pedro Pablo Espana, Beatriz Mateos, Jan Egil Afset, Mar Riveiro-Barciela, Beatriz Cortés, Thomas Eggermann, Frank Hanses, Julia Schroeder, Karl Erik Mueller, Maria Manunta, Anders Benjamin Kildal, Thomas Illig, Charlotte Thibeault, Maurizio Cecconi, Alena Mayer, Frauke Degenhardt, Douglas Maya-Miles, Alessio Aghemo, Petra Bacher, Marc M. Berger, Francisco Rodriguez-Frias, Fredrik Mueller, Elena Azzolini, Ruben Morilla

Publikováno v: Degenhardt, F, Ellinghaus, D, Juzenas, S, Lerga-Jaso, J, Wendorff, M, Maya-Miles, D, Uellendahl-Werth, F, ElAbd, H, Rühlemann, M C, Arora, J, Özer, O, Lenning, O B, Myhre, R, Vadla, M S, Wacker, E M, Wienbrandt, L, Ortiz, A B, Salazar, A, Chercoles, A G, Palom, A, Ruiz, A, Garcia-Fernandez, A-E, Blanco-Grau, A, Mantovani, A, Zanella, A, Holten, A R, Mayer, A, Bandera, A, Cherubini, A, Protti, A, Aghemo, A, Gerussi, A, Ramirez, A, Braun, A, Nebel, A, Barreira, A, Lleo, A, Teles, A, Kildal, A B, Biondi, A, Caballero-Garralda, A, Ganna, A, Gori, A, Glück, A, Lind, A, Hinney, A, Jensen, B, Banasik, K, Castro, P, Brunak, S & COVICAT study group, Aachen Study (COVAS) 2022, ' Detailed stratified GWAS analysis for severe COVID-19 in four European populations ', Human Molecular Genetics, vol. 31, no. 23, pp. 3945-3966 . https://doi.org/10.1093/hmg/ddac158
ddac158
Human Molecular Genetics
Human molecular genetics : HMG online 31(23), 3945-3966 (2022). doi:10.1093/hmg/ddac158
Human molecular genetics, Oxford : Oxford University Press, 2022, vol. 31, no. 23, p. 3945-3966
Digital.CSIC. Repositorio Institucional del CSIC
instname
Human molecular genetics 31(23), 3945-3966 (2022). doi:10.1093/hmg/ddac158

Given the highly variable clinical phenotype of Coronavirus disease 2019 (COVID-19), a deeper analysis of the host genetic contribution to severe COVID-19 is important to improve our understanding of underlying disease mechanisms. Here, we describe a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7b101566ae8e5eb3222844e2756df42
https://curis.ku.dk/portal/da/publications/detailed-stratified-gwas-analysis-for-severe-covid19-in-four-european-populations(28d224ed-e846-4731-a527-508a45411ef5).html

GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing

Autor: Jordi Valls-Margarit, Marta Sabariego Puig, Manuel Perucho, David Torrents, Cecilia Salvoro, Xavier Farré, Beatriz Cortés, Olivier Delaneau, Anna Carreras, Rafael de Cid, Jon Lerga-Jaso, Daniel Matías-Sánchez, Mario Cáceres, Victor Moreno, Montserrat Puiggròs, Lauro Sumoy, Lluís Armengol, Natalia Blay, Ramon Amela, Iván Galván-Femenía, Jose Francisco Sánchez-Herrero

The combined analysis of haplotype panels with phenotype clinical cohorts is a common approach to explore the genetic architecture of human diseases. However, genetic studies are mainly based on single nucleotide variants (SNVs) and small insertions

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::db62edc524f949631eefb84ab30b2b83
https://doi.org/10.1101/2021.07.20.453041