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19 p, 2.4 MB |
Multi-phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations
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Temprano-Sagrera, Gerard (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Sitlani, Collen M. (University of Washington) ;
Bone, William P. (University of Pennsylvania) ;
Martín Bórnez, Miguel (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Voight, Benjamin F. (University of Pennsylvania Perelman School of Medicine) ;
Morrison, Alanna C. ;
Damrauer, Scott M. ;
de Vries, Paul S. ;
Smith, Nicholas L. ;
Sabater-Lleal, Maria (Institut d'Investigació Biomèdica Sant Pau) ;
Dehghan, Abbas ;
Heath, Adam S. ;
Reiner, Alex P. ;
Johnson, Andrew ;
Richmond, Anne ;
Peters, Annette ;
van Hylckama Vlieg, Astrid ;
McKnight, Barbara ;
Psaty, Bruce M. ;
Hayward, Caroline ;
Ward-Caviness, Cavin ;
O'Donnell, Cristopher ;
Chasman, Daniel ;
Strachan, David P. ;
Tregouet, David A. ;
Mook-Kanamori, Dennis ;
Gill, Dipender ;
Thibord, Florian ;
Asselbergs, Folkert W. ;
Leebeek, Frank W. G. ;
Rosendaal, Frits R. ;
Davies, Gail ;
Homuth, Georg ;
Temprano, Gerard ;
Campbell, Harry ;
Taylor, Herman A. ;
Bressler, Jan ;
Huffman, Jennifer E. ;
Rotter, Jerome I. ;
Yao, Jie ;
Wilson, James F. ;
Bis, Joshua C. ;
Hahn, Julie M. ;
Desch, Karl C. ;
Wiggins, Kerri L. ;
Raffield, Laura M. ;
Bielak, Lawrence F. ;
Yanek, Lisa R. ;
Kleber, Marcus E. ;
Mueller, Martina ;
Kavousi, Maryam ;
Mangino, Massimo ;
Liu, Melissa ;
Brown, Michael R. ;
Conomos, Matthew P. ;
Jhun, Min-A. ;
Chen, Ming-Huei ;
de Maat, Moniek P. M. ;
Pankratz, Nathan ;
Smith, Nicholas L. ;
Peyser, Patricia A. ;
Elliot, Paul ;
Wei, Peng ;
Wild, Philipp S. ;
Morange, Pierre E. ;
van der Harst, Pim ;
Yang, Qiong ;
Le, Ngoc-Quynh ;
Marioni, Riccardo ;
Li, Ruifang ;
Damrauer, Scott M. ;
Cox, Simon R. ;
Trompet, Stella ;
Felix, Stephan B. ;
Völker, Uwe ;
Tang, Weihong ;
Koenig, Wolfgang ;
Jukema, J. Wouter ;
Guo, Xiuqing ;
Lindstrom, Sara ;
Wang, Lu ;
Smith, Erin N. ;
Gordon, William ;
van Hylckama Vlieg, Astrid ;
de Andrade, Mariza ;
Brody, Jennifer A. ;
Pattee, Jack W. ;
Haessler, Jeffrey ;
Brumpton, Ben M. ;
Suchon, Pierre ;
Chen, Ming-Huei ;
Turman, Constance ;
Germain, Marine ;
Wiggins, Kerri L. ;
MacDonald, James ;
Braekkan, Sigrid K. ;
Armasu, Sebastian M. ;
Pankratz, Nathan ;
Jackson, Rabecca D. ;
Nielsen, Jonas B. ;
Giulianini, Franco ;
Puurunen, Marja K. ;
Ibrahim, Manal ;
Heckbert, Susan R. ;
Bammler, Theo K. ;
Frazer, Kelly A. ;
McCauley, Bryan M. ;
Taylor, Kent ;
Pankow, James S. ;
Reiner, Alexander P. ;
Gabrielsen, Maiken E. ;
Deleuze, Jean-François ;
O'Donnell, Chris J. ;
Kim, Jihye ;
McKnight, Barbara ;
Kraft, Peter ;
Hansen, John-Bjarne ;
Rosendaal, Frits R. ;
Heit, John A. ;
Psaty, Bruce M. ;
Tang, Weihong ;
Kooperberg, Charles ;
Hveem, Kristian ;
Ridker, Paul M. ;
Morange, Pierre-Emmanuel ;
Johnson, Andrew D. ;
Kabrhel, Christopher ;
Trégouët, David-Alexandre ;
Smith, Nicholas L. ;
Malik, Rainer ;
Chauhan, Ganesh ;
Traylor, Matthew ;
Sargurupremraj, Muralidharan ;
Okada, Yukinori ;
Mishra, Aniket ;
Rutten-Jacobs, Loes ;
Giese, Anne-Katrin ;
van der Laan, Sander W. ;
Gretarsdottir, Solveig ;
Anderson, Christopher D. ;
Chong, Michael ;
Adams, Hieab HH. ;
Ago, Tetsuro ;
Almgren, Peter ;
Amouyel, Philippe ;
Ay, Hakan ;
Bartz, Traci M. ;
Benavente, Oscar R. ;
Bevan, Steve ;
Boncoraglio, Giorgio B. ;
Brown, Robert D. ;
Butterworth, Aadam S. ;
Carrera, Caty ;
Carty, Cara L. ;
Chen, Wei-Min ;
Cole, John W. ;
Correa, Adolfo ;
Cotlarciuc, Ioanna ;
Cruchaga, Carlos ;
Danesh, John ;
de Bakker, Paul I. W. ;
DeStefano, Anita L. ;
den Hoed, Marcel ;
Duan, Qing ;
Engelter, Stefan T. ;
Falcone, Guido J. ;
Gottesman, Rebecca F. ;
Grewal, Raji P. ;
Gudnason, Vilmundur ;
Gustafsson, Stefan ;
Haessler, Jeffrey ;
Harris, Tamara B. ;
Hassan, Ahamad ;
Havulinna, Aki S. ;
Heckbert, Susan R. ;
Holliday, Elizabeth G. ;
Howard, George ;
Hsu, Fang-Chi ;
Hyacinth, Hyacinth I. ;
Arfan Ikram, M. ;
Ingelsson, Erik ;
Irvin, Marguerite R. ;
Jian, Xueqiu ;
Jiménez-Conde, Jordi ;
Johnson, Julie A. ;
Jukema, J. Wouter ;
Kanai, Masahiro ;
Keene, Keith L. ;
Kissela, Brett M. ;
Kleindorfer, Dawn O. ;
Kooperberg, Charles ;
Kubo, Michiaki ;
Lange, Leslie A. ;
Langefeld, Carl D. ;
Langenberg, Claudia ;
Launer, Lenore J. ;
Lee, Jin-Moo ;
Lemmens, Robin ;
Leys, Didier ;
Lewis, Cathryn M. ;
Lin, Wei-Yu ;
Lindgren, Arne G. ;
Lorentzen, Erik ;
Magnusson, Patrik K. ;
Maguire, Jane ;
Manichaikul, Ani ;
McArdle, Patrick F. ;
Meschia, James F. ;
Mitchell, Braxton D. ;
Mosley, Thomas H. ;
Nalls, Michael A. ;
Ninomiya, Toshiharu ;
O'Donnell, Martin J. ;
Psaty, Bruce M. ;
Pulit, Sara L. ;
Rannikmäe, Kristiina ;
Reiner, Alexander P. ;
Rexrode, Kathryn M. ;
Rice, Kenneth ;
Rich, Stephen S. ;
Ridker, Paul M. ;
Rost, Natalia S. ;
Rothwell, Peter M. ;
Rotter, Jerome I. ;
Rundek, Tatjana ;
Sacco, Ralph L. ;
Sakaue, Saori ;
Sale, Michele M. ;
Salomaa, Veikko ;
Sapkota, Bishwa R. ;
Schmidt, Reinhold ;
Schmidt, Carsten O. ;
Schminke, Ulf ;
Sharma, Pankaj ;
Slowik, Agnieszka ;
Sudlow, Cathie L. M. ;
Tanislav, Christian ;
Tatlisumak, Turgut ;
Taylor, Kent D. ;
Thijs, Vincent N. S. ;
Thorleifsson, Gudmar ;
Thorsteinsdottir, Unnur ;
Tiedt, Steffen ;
Trompet, Stella ;
Tzourio, Christophe ;
van Duijn, Cornelia M. ;
Walters, Matthew ;
Wareham, Nicholas J. ;
Wassertheil-Smoller, Sylvia ;
Wilson, James G. ;
Wiggins, Kerri L. ;
Yang, Qiong ;
Yusuf, Salim ;
Amin, Najaf ;
Aparicio, Hugo S. ;
Arnett, Donna K. ;
Attia, John ;
Beiser, Alexa S. ;
Berr, Claudine ;
Buring, Julie E. ;
Bustamante, Mariana ;
Caso, Valeria ;
Cheng, Yu-Ching ;
Hoan Choi, Seung ;
Chowhan, Ayesha ;
Cullell, Natalia ;
Dartigues, Jean-François ;
Delavaran, Hossein ;
Delgado, Pilar ;
Dörr, Marcus ;
Engström, Gunnar ;
Ford, Ian ;
Gurpreet, Wander S. ;
Hamsten, Anders ;
Heitsch, Laura ;
Hozawa, Aatsushi ;
Ibanez, Laura ;
Ilinca, Andrea ;
Ingelsson, Martin ;
Iwasaki, Motoki ;
Jackson, Rebecca D. ;
Jood, Katarina ;
Jousilahti, Pekka ;
Kaffashian, Sara ;
Kalra, Lalit ;
Kamouchi, Masahiro ;
Kitazono, Takanari ;
Kjartansson, Olafur ;
Kloss, Manja ;
Koudstaal, Peter J. ;
Krupinski, Jerzy ;
Labovitz, Daniel L. ;
Laurie, Cathy C. ;
Levi, Christhoper R. ;
Li, Linxin ;
Lind, Lars ;
Lindgren, Cecilia M. ;
Lioutas, Vasileios ;
Mei Liu, Yong ;
Lopez, Oscar L. ;
Makoto, Hirata ;
Martinez-Majander, Nicolas ;
Matsuda, Koichi ;
Minegishi, Naoko ;
Montaner, Joan ;
Morris, Andrew P. ;
Muiño, Elena ;
Müller-Nurasyid, Martina ;
Norrving, Bo ;
Ogishima, Soichi ;
Parati, Eugenio A. ;
Reddy Peddareddygari, Leema ;
Pedersen, Nancy L. ;
Pera, Joanna ;
Perola, Markus ;
Pezzini, Alessandro ;
Pileggi, Silvana ;
Rabionet, Raquel ;
Riba-Llena, Iolanda ;
Ribasés, Marta ;
Romero, Jose R. ;
Roquer, Jaume ;
Rudd, Anthony G. ;
Sarin, Antti-Pekka ;
Sarju, Ralhan ;
Sarnowski, Chloe ;
Sasaki, Makoto ;
Satizabal, Claudia L. ;
Satoh, Mamoru ;
Sattar, Naveed ;
Sawada, Norie ;
Sibolt, Gerli ;
Sigurdsson, Ásgeir ;
Smith, Albert ;
Sobue, Kenji ;
Soriano-Tárraga, Carolina ;
Stanne, Tara ;
Colin Stine, O. ;
Stott, David J. ;
Strauch, Konstantin ;
Takai, Takako ;
Tanaka, Hideo ;
Tanno, Kozo ;
Teumer, Alexander ;
Tomppo, Liisa ;
Torres-Aguila, Nuria P. ;
Touze, Emmanuel ;
Tsugane, Shoichiro ;
Uitterlinden, Aandre G. ;
Valdimarsson, Einar M. ;
van der Lee, Sven J. ;
Völzke, Henry ;
Wakai, Kenji ;
Weir, David ;
Williams, Stephen R. ;
Wolfe, Charles D.A. ;
Wong, Quenna ;
Xu, Huichun ;
Yamaji, Taiki ;
Sanghera, Dharambir K. ;
Melander, Olle ;
Jern, Christina ;
Strbian, Daniel ;
Fernandez-Cadenas, Israel ;
Longstreth, W.T. ;
Rolfs, Arndt ;
Hata, Jun ;
Woo, Daniel ;
Rosand, Jonathan ;
Pare, Guillaume ;
Hopewell, Jemma C. ;
Saleheen, Danish ;
Stefansson, Kari ;
Worrall, BradfordB. ;
Kittner, Steven J. ;
Seshadri, Sudha ;
Fornage, Myriam ;
Markus, Hugh S. ;
Howson, Joana M. M. ;
Kamatani, Yoichiro ;
Debette, Stephanie ;
Dichgans, Martin ;
Universitat Autònoma de Barcelona
Multi-phenotype analysis of genetically correlated phenotypes can increase the statistical power to detect loci associated with multiple traits, leading to the discovery of novel loci. This is the first study to date to comprehensively analyze the shared genetic effects within different hemostatic traits, and between these and their associated disease outcomes. [...]
2022 -  10.1111/jth.15698
Journal of Thrombosis and Haemostasis, Vol. 20 Núm. 6 (01 2022) , p. 1331-1349
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20 p, 141.5 KB |
Post genetic revolution dynamics : how will modified and unmodified humans coexist?
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Alonso, Marcos (Universidad Complutense de Madrid)
In this article I claim that the genetic revolution, that is, the advent of a series of highly transformative and disruptive genetic technologies, will happen in the coming years. Given the importance of this historical event, I argue that we must think in advance about the socio-ethical dynamics this revolution could entail. [...]
En aquest article sostinc que la revolució genètica, és a dir, l'adveniment d'una sèrie de tecnologies genètiques altament transformadores i disruptives, tindrà lloc en els pròxims anys. Atesa la importància d'aquest esdeveniment històric, defenso que hem d'anticipar-nos per reflexionar sobre la dinàmica socioètica que podria comportar aquesta revolució. [...]
En este artículo sostengo que la revolución genética, es decir, el advenimiento de una serie de tecnologías genéticas altamente transformadoras y disruptivas, tendrá lugar en los próximos años. [...]
2024 - 10.5565/rev/enrahonar.1527
Enrahonar, Vol. 72 (2024) , p. 35-54 (Articles)
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12 p, 3.3 MB |
Spanish cohort of VEXAS syndrome : clinical manifestations, outcome of treatments and novel evidences about UBA1 mosaicism
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Mascaro, Jose Manuel (Hospital Clínic i Provincial de Barcelona) ;
Rodriguez-Pinto, Ignasi (Hospital Universitari MútuaTerrassa) ;
Poza, Gabriela (Hospital Universitario Virgen de la Arrixaca) ;
Mensa-Vilaro, Anna (Hospital Clínic i Provincial de Barcelona) ;
Fernández-Martín, Julián (Hospital Álvaro Cunqueiro) ;
Caminal-Montero, Luis (Instituto de Investigación Sanitaria del Principado de Asturias) ;
Espinosa, Gerard (Hospital Clínic i Provincial de Barcelona) ;
Hernández Rodríguez, José (Hospital Clínic i Provincial de Barcelona) ;
Diaz, Marina (Hospital Clínic i Provincial de Barcelona) ;
Rita-Marques, Joana (Hospital Universitari Vall d'Hebron) ;
Sanmartí, Raimon (Hospital Clínic i Provincial de Barcelona) ;
Castañeda, Santos (Universidad Autónoma de Madrid) ;
Colunga, Dolores (Hospital Universitario Central de Asturias) ;
Coto-Hernández, Rubén (Instituto de Investigación Sanitaria del Principado de Asturias) ;
Fanlo, Patricia (Hospital Universitario de Navarra) ;
Elejalde, Jose Ignacio (Hospital Universitario de Navarra) ;
Segundo, Bujan (Hospital Universitari Vall d'Hebron) ;
Figueras, Ignasi (Hospital Universitari de Bellvitge) ;
Marco, Francisco Manuel (Hospital General Universitario de Alicante Dr Balmis) ;
Andrés, Mariano (Universidad Miguel Hernández de Elche) ;
Suárez, Silvia (Hospital Valle del Nalón) ;
Gonzalez-Garcia, Andres (Hospital Universitario Ramón y Cajal) ;
Fustà-Novell, Xavier (Fundació Althaia de Manresa) ;
Garcia-Belando, Clara (Hospital Universitario Virgen de la Arrixaca) ;
Granados-Maturano, Ana (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Fernandez Figueras, Maria Teresa (Hospital Universitari General de Catalunya) ;
Quilis, Neus (Hospital Universitari de Vinalopo) ;
Orriols-Caba, Maria (Hospital comarcal Alt Penedès) ;
Gómez de la Torre, Ricardo (Hospital Universitario Central de Asturias) ;
Cid, María Cinta (Hospital Clínic i Provincial de Barcelona) ;
Espígol-Frigolé, Georgina (Hospital Clínic i Provincial de Barcelona) ;
Alvarez-Abella, Alba (Hospital Universitari MútuaTerrassa) ;
Labrador, Eztizen (Hospital San Pedro) ;
Rozman, Maria (Hospital Clínic i Provincial de Barcelona) ;
Lopez-Guerra, Monica (Hospital Clínic i Provincial de Barcelona) ;
Castillo, Paola (Hospital Clínic i Provincial de Barcelona) ;
Alamo-Moreno, Jose R (Hospital Clínic i Provincial de Barcelona) ;
Gonzalez-Roca, Eva (Hospital Clínic i Provincial de Barcelona) ;
Plaza, Susana (Hospital Clínic i Provincial de Barcelona) ;
Fabregat, Virginia (Hospital Clínic i Provincial de Barcelona) ;
Lara, Rocio (Hospital Clínic i Provincial de Barcelona) ;
Vicente-Rabaneda, Esther F (Universidad Autónoma de Madrid) ;
Tejedor Vaquero, Sonia (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Magri, Giuliana (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Bonet, Nuria (Universitat Pompeu Fabra) ;
Solis-Moruno, Manuel (Universitat Pompeu Fabra) ;
Cerutti, Andrea (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Fornas, Òscar (Universitat Pompeu Fabra) ;
Casals, Ferran (Universitat de Barcelona) ;
Yagüe, Jordi (Hospital Clínic i Provincial de Barcelona) ;
Aróstegui, Juan Ignacio (Hospital Clínic i Provincial de Barcelonaa) ;
Universitat Autònoma de Barcelona
The vacuoles, E1-enzyme, X linked, autoinflammatory and somatic (VEXAS) syndrome is an adult-onset autoinflammatory disease (AID) due to postzygotic UBA1 variants. To investigate the presence of VEXAS syndrome among patients with adult-onset undiagnosed AID. [...]
2023 - 10.1136/ard-2023-224460
Annals of the rheumatic diseases, Vol. 82 (september 2023) , p. 1594-1605
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7 p, 1.6 MB |
Case report : Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome
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Manso-Bazús, Carmen (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Spataro, Nino (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Gabau, Elisabeth (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Beltrán-Salazar, Viviana P. (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Trujillo-Quintero, Juan Pablo (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Capdevila, Núria (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Brunet Vega, Anna (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Baena Díez, Neus (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Jeyaprakash, A Arockia (Ludwig Maximilian Universität) ;
Martinez-Glez, Víctor (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Ruiz, Anna (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Universitat Autònoma de Barcelona
Background: Moebius Syndrome (MBS) is a rare congenital neurological disorder characterized by paralysis of facial nerves, impairment of ocular abduction and other variable abnormalities. MBS has been attributed to both environmental and genetic factors as potential causes. [...]
2024 - 10.3389/fgene.2024.1291063
Frontiers in genetics, Vol. 15 (january 2024)
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10 p, 2.6 MB |
Epigenetic Profiling and Response to CD19 Chimeric Antigen Receptor T-Cell Therapy in B-Cell Malignancies
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García-Prieto, Carlos A (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Villanueva, Lorea (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Bueno-Costa, Alberto (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Davalos, Veronica (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
González-Navarro, Europa Azucena (Department of Immunology. Hospital Clinic) ;
Juan, Manuel (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Urbano-Ispizua, Álvaro (Department of Hematology. University of Barcelona) ;
Delgado, Julia (Centro de Investigación Biomedica en Red de Cancer) ;
Ortiz-Maldonado, Valetín (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Del Bufalo, Francesca (Department of Paediatric Haematology and Oncology. Bambino Gesù Children's Hospital) ;
Locatelli, Franco (Sapienza University of Rome) ;
Quintarelli, Concetta (Department of Clinical Medicine and Surgery. University of Naples Federico II) ;
Sinibaldi, Matilde (Department of Paediatric Haematology and Oncology. Bambino Gesù Children's Hospital) ;
Soler, Marta (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Castro De Moura, Manuel (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Ferrer, Gerardo (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Urdinguio, Rocío G. (Universidad de Oviedo) ;
Fernandez, A.F. (Universidad de Oviedo) ;
Fraga, Mario F. (Universidad de Oviedo) ;
Bar, Diana (The Edmond and Lily Safra Children's Hospital) ;
Meir, Agustín (The Edmond and Lily Safra Children's Hospital) ;
Itzhaki, Orit (Ella Lemelbaum Institute for Immuno Oncology) ;
Besser, MichalJ. (Tel Aviv University) ;
Avigdor, Abraham (Sheba Medical Center) ;
Jacoby, Elad (Tel Aviv University) ;
Esteller, Manel (Universitat de Barcelona. Departament de Ciències Fisiològiques)
Background: Chimeric antigen receptor (CAR) T cells directed against CD19 (CART19) are effective in B-cell malignancies, but little is known about the molecular factors predicting clinical outcome of CART19 therapy. [...]
2022 - 10.1093/jnci/djab194
Journal of the National Cancer Institute, Vol. 114 Núm. 3 (january 2022) , p. 436-445
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17 p, 3.1 MB |
The PENGUIN approach to reconstruct protein interactions at enhancer-promoter regions and its application to prostate cancer
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Armaos, Alexandros (Istituto Italiano di Tecnologia) ;
Serra, François (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Núñez-Carpintero, Iker (Barcelona Supercomputing Center) ;
Seo, J.H.Ji-Heui (Department of Medical Oncology, Dana Farber Cancer Institute (Estats Units d'Amèrica)) ;
Baca, Sylvan C. (Department of Medical Oncology, Dana Farber Cancer Institute (Estats Units d'Amèrica)) ;
Gustincich, Stefano (Istituto Italiano di Tecnologia) ;
Valencia, Alfonso (Institució Catalana de Recerca i Estudis Avançats) ;
Freedman, Matthew L. (Broad Institute (Estats Units d'Amèrica)) ;
Cirillo, D. (Barcelona Supercomputing Center) ;
Giambartolomei, C. (Human Technopol (Itàlia)) ;
Tartaglia, G.G. (Istituto Italiano di Tecnologia (Itàlia))
We introduce Promoter-Enhancer-Guided Interaction Networks (PENGUIN), a method for studying protein-protein interaction (PPI) networks within enhancer-promoter interactions. PENGUIN integrates H3K27ac-HiChIP data with tissue-specific PPIs to define enhancer-promoter PPI networks (EPINs). [...]
2023 - 10.1038/s41467-023-43767-1
Nature communications, Vol. 14 Núm. 1 (december 2023) , p. 8084
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16 p, 3.4 MB |
Low input capture Hi-C (liCHi-C) identifies promoter-enhancer interactions at high-resolution
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Tomás Daza, Laureano (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Rovirosa, Llorenç (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
López-Martí, Paula (Barcelona Supercomputing Center) ;
Nieto-Aliseda, Andrea (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Serra, François (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Planas-Riverola, Ainhoa (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Molina, Oscar (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
McDonald, Rebecca (Wellcome-MRC Cambridge Stem Cell Institute) ;
Ghevaert, Cedric (NHS Blood and Transplant) ;
Cuatrecasas, Esther (Hospital Sant Joan de Déu (Manresa)) ;
Costa, Dolors (Cancer Network Biomedical Research Center) ;
Camós, Mireia (Instituto de Salud Carlos III) ;
Bueno, Clara (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Menéndez, Pablo (Institució Catalana de Recerca i Estudis Avançats) ;
Valencia, Alonso (Institució Catalana de Recerca i Estudis Avançats) ;
Javierre, B. M (Institut Germans Trias i Pujol)
Long-range interactions between regulatory elements and promoters are key in gene transcriptional control; however, their study requires large amounts of starting material, which is not compatible with clinical scenarios nor the study of rare cell populations. [...]
2023 - 10.1038/s41467-023-35911-8
Nature communications, Vol. 14 Núm. 1 (december 2023) , p. 268
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11 p, 771.0 KB |
Do GWAS-Identified Risk Variants for Chronic Lymphocytic Leukemia Influence Overall Patient Survival and Disease Progression?
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Cabrera Serrano, Antonio José (Instituto de Investigación Sanitaria de Granada) ;
Sánchez Maldonado, José Manuel (Instituto de Investigación Sanitaria de Granada) ;
ter Horst, Rob (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences) ;
Macauda, Angelica (German Cancer Research Center) ;
García Martín, Paloma (Hospital Campus de la Salud (Granada)) ;
Benavente, Yolanda (Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública) ;
Landi, Stefano (Department of Biology. University of Pisa) ;
Clay-Gilmour, Alyssa (Department of Epidemiology & Biostatistics. Arnold School of Public Health. University of South Carolina) ;
Niazi, Yasmeen (Hopp Children's Cancer Center) ;
Espinet, Blanca (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Rodriguez-Sevilla, Juan Jose (Department of Leukemia. The University of Texas MD Anderson Cancer Center) ;
Pérez, Eva María (Hospital Campus de la Salud) ;
Maffei, Rossana (University of Modena and Reggio Emilia) ;
Blanco, Gonzalo (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Giaccherini, Matteo (Department of Biology. University of Pisa) ;
Cerhan, James R. (Department of Quantitative Health Sciences. Mayo Clinic) ;
Marasca, Roberto (Department of Medical and Surgical Sciences. University of Modena and Reggio Emilia. AOU Policlinico) ;
Lopez Nevot, Miguel Angel (Hospital Universitario Virgen de las Nieves (Granada)) ;
Chen-Liang, Tzu Hua (Hospital Universitario Morales Meseguer (Múrcia)) ;
Thomsen, Hauke (MSB Medical School Berlin) ;
Gámez, Irene (Hematology Department. Morales Meseguer University Hospital) ;
Campa, Daniele (Department of Biology. University of Pisa) ;
Moreno Aguado, Víctor (Facultat de Medicina. Universitat de Barcelona) ;
de Sanjosé, Silvia (Universitat de Barcelona) ;
Marcos-Gragera, Rafael (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
García-Álvarez, María Flor (Instituto de Investigación Biomédica de Salamanca) ;
Dierssen-Sotos, Trinidad (Universidad de Cantabria) ;
Jerez, Andrés (Vall d'Hebron Institut d'Oncologia) ;
Butrym, Aleksandra (Department of Cancer Prevention and Therapy. Medical University of Wrocław) ;
Norman, Aaron D. (Department of Quantitative Health Sciences. Mayo Clinic) ;
Luppi, Mario (University of Modena and Reggio Emilia) ;
Slager, Susan L. (Mayo Clinic) ;
Hemminki, Kari (Charles University in Prague) ;
Li, Yang (Hannover Medical School) ;
Berndt, Sonja I. (National Institutes of Health (Estats Units d'Amèrica)) ;
Casabonne, Delphine (Universitat de Barcelona) ;
Alcoceba, Miguel (Instituto de Investigación Biomédica de Salamanca) ;
Puiggros, Anna (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Netea, Mihai G. (Department for Immunology & Metabolism. University of Bonn) ;
Försti, Asta (Hopp Children's Cancer Center) ;
Canzian, Federico (German Cancer Research Center) ;
Sainz, Juan (Department of Biochemistry and Molecular Biology. Universidad de Granada)
Chronic lymphocytic leukemia (CLL) is the most common leukemia among adults worldwide. Although genome-wide association studies (GWAS) have uncovered the germline genetic component underlying CLL susceptibility, the potential use of GWAS-identified risk variants to predict disease progression and patient survival remains unexplored. [...]
2023 - 10.3390/ijms24098005
International journal of molecular sciences, Vol. 24 Núm. 9 (may 2023) , p. 8005
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9.
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12 p, 801.4 KB |
The Secondary Myelodysplastic Neoplasms (MDS) Jigsaw
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Calvete, Oriol (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Mestre, Julia (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Jerez, Andrés (Vall d'Hebron Institut d'Oncologia) ;
Sole, F (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
There is a great deal of controversy in the hematologic community regarding the classification of secondary myelodysplastic neoplasms (MDSs). Current classifications are based on the presence of genetic predisposition and MDS post-cytotoxic therapy (MDS-pCT) etiologies. [...]
2023 - 10.3390/cancers15051483
Cancers, Vol. 15 Núm. 5 (march 2023) , p. 1483
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10.
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27 p, 8.1 MB |
Integrative multi-omic cancer profiling reveals DNA methylation patterns associated with therapeutic vulnerability and cell-of-origin
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Liang, Wen-Wei (Washington University in St. Louis) ;
Lu, Rita Jui-Hsien Lu (Washington University in St. Louis) ;
Jayasinghe, Reyka G. (Washington University in St. Louis) ;
Foltz, Steven M. (Washington University in St. Louis) ;
Porta-Pardo, Eduard (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Geffen, Yifat (Massachusetts General Hospital) ;
Wendl, Michael C. (Department of Mathematics. Washington University in St. Louis) ;
Lazcano, Rossana (Departments of Pathology & Genomic Medicine. The University of Texas MD Anderson Cancer Center) ;
Kolodziejczak, Iga (Medical University of Warsaw) ;
Song, Yizhe (Washington University in St. Louis) ;
Govindan, Akshay (Washington University in St. Louis) ;
Demicco, Elisabeth G. (University of Toronto) ;
Li, Xiang (Washington University in St. Louis) ;
Li, Yize (Washington University in St. Louis) ;
Sethuraman, Sunantha (Washington University in St. Louis) ;
Payne, Samuel H. (Department of Biology. Brigham Young University) ;
Fenyö, David (Department of Biochemistry and Molecular Pharmacology. NYU Grossman School of Medicine) ;
Rodriguez, Henry (Office of Cancer Clinical Proteomics Research. National Cancer Institute) ;
Wiznerowicz, Maciej (Poznań University of Medical Sciences) ;
Shen, Hui (Van Andel Research Institute) ;
Mani, D.R. (Broad Institute of Massachusetts Institute of Technology and Harvard) ;
Rodland, Karin D. (Developmental. and Cancer Biology. Oregon Health & Science University) ;
Lazar, Alexander J. (Departments of Pathology & Genomic Medicine. The University of Texas MD Anderson Cancer Center) ;
Robles, Ana I. (Office of Cancer Clinical Proteomics Research) ;
Ding, Li (Washington University in St. Louis) ;
Universitat Autònoma de Barcelona
DNA methylation plays a critical role in establishing and maintaining cellular identity. However, it is frequently dysregulated during tumor development and is closely intertwined with other genetic alterations. [...]
2023 - 10.1016/j.ccell.2023.07.013
Cancer Cell, Vol. 41 Núm. 9 (november 2023) , p. 1567-1585.e7
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