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1.
16 p, 1.8 MB Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information / Guelfi, Sebastian (University College London (UCL) Institute of Neurology) ; D'Sa, Karishma (Guy's and St Thomas' NHS Foundation Trust (Regne Unit)) ; Botía, Juan A. (Universidad de Murcia) ; Vandrovcova, Jana (University College London (UCL) Institute of Neurology) ; Reynolds, Regina H. (University College London (UCL) Institute of Neurology) ; Zhang, David (University College London (UCL) Institute of Neurology) ; Trabzuni, Daniah (King Faisal Specialist Hospital and Research Centre) ; Collado-Torres, Leonardo (Lieber Institute for Brain Development) ; Thomason, Andrew (University of London) ; Quijada Leyton, Pedro (University of London) ; Gagliano Taliun, Sarah A. (University of Michigan) ; Nalls, Mike A. (Data Tecnica International) ; Noyce, Alastair J. (Wolfson Institute of Preventive Medicine) ; Nicolas, Aaude (National Institute on Aging (Estats Units d'Amèrica)) ; Cookson, Mark R. (National Institute on Aging (Estats Units d'Amèrica)) ; Bandres-Ciga, Sara (National Institute on Aging (Estats Units d'Amèrica)) ; Gibbs, J. Raphael (National Institute on Aging (Estats Units d'Amèrica)) ; Hernandez, Dena G. (National Institute on Aging (Estats Units d'Amèrica)) ; Singleton, Andrew B. (National Institute on Aging (Estats Units d'Amèrica)) ; Reed, Xylena (National Institute on Aging (Estats Units d'Amèrica)) ; Leonard, Hampton L (National Institute on Aging (Estats Units d'Amèrica)) ; Blauwendraat, Cornelis (Wolfson Institute of Preventive Medicine) ; Faghri, Faraz (University of Illinois at Urbana-Champaign) ; Bras, Jose (King's College London) ; Guerreiro, Rita (University College London) ; Tucci, Arianna (University College London) ; Kia, Demis A. (University College London) ; Houlden, Henry (University College London) ; Plun-Favreau, Helene (University College London) ; Mok, Kin Ying (University College London) ; Wood, Nicholas W. (University College London) ; Lovering, Ruth Caroline (University College London) ; R'Bibo, Lea (University College London) ; Rizig, Mie (University College London) ; Chelban, Viorica (UCL Institute of Neurology (Regne Unit)) ; Tan, Manuela (Singapore Institute for Clinical Sciences) ; Morris, Huw (University College London) ; Middlehurst, Ben (Institute of Translational Medicine) ; Quinn, John (Institute of Translational Medicine) ; Billingsley, Kimberley (Institute of Translational Medicine) ; Holmans, Peter (MRC Centre for Neuropsychiatric Genetics & Genomics) ; Kinghorn, Kerri J. (University College London) ; Lewis, Patrick (University of Reading) ; Escott-Price, Valentina (Cardiff University School of Medicine) ; Williams, Nigel (MRC Cardiff University School of Medicine) ; Foltynie, Thomas (UCL Institute of Neurology (Regne Unit)) ; Brice, Alexis (Pitié-Salpêtrière Hospital6. UMR S 1127. AP-HP. Pitié-Salpêtrière Hospital) ; Danjou, Fabrice (Pitié-Salpêtrière Hospital6. UMR S 1127. AP-HP. Pitié-Salpêtrière Hospital) ; Lesage, Suzanne (Pitié-Salpêtrière Hospital6. UMR S 1127. AP-HP. Pitié-Salpêtrière Hospital) ; Corvol, Jean-Christophe (Pitié-Salpêtrière Hospital6. UMR S 1127. AP-HP. Pitié-Salpêtrière Hospital) ; Martinez, Maria M. (Paul Sabatier University) ; Giri, Anamika (DZNE. German Center for Neurodegenerative Diseases) ; Schulte, Claudia (DZNE. German Center for Neurodegenerative Diseases) ; Brockmann, Kathrin (DZNE. German Center for Neurodegenerative Diseases) ; Simón-Sánchez, Javier (DZNE. German Center for Neurodegenerative Diseases) ; Heutink, Peter (DZNE. German Center for Neurodegenerative Diseases) ; Gasser, Thomas (DZNE. German Center for Neurodegenerative Diseases) ; Rizzu, Patrizia (DZNE. German Center for Neurodegenerative Diseases) ; Sharma, Manu (University of Tubingen) ; Shulman, Joshua M. (Texas Children's Hospital) ; Robak, Laurie (Baylor College of Medicine) ; Lubbe, Steven (Northwestern University Feinberg School of Medicine) ; Mencacci, Niccolò Emanuele (Northwestern University Feinberg School of Medicine) ; Finkbeiner, Steven (Taube/Koret Center for Neurodegenerative Disease Research) ; Lungu, Codrin (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ; Scholz, Sonja (National Institute of Neurological Disorders and Stroke) ; Gan-Or, Ziv (McGill University) ; Rouleau, Guy A. (McGill University) ; Krohan, Lynne (Leiden University Medical Center) ; van Hilten, Jacobus J. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Marinus, Johan (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Adarmes-Gómez, A.D (Hospital Universitari MútuaTerrassa) ; Bernal-Bernal, Inmaculada (Hospital Universitari MútuaTerrassa) ; Bonilla-Toribio, Marta (Hospital Universitari MútuaTerrassa) ; Buiza-Rueda, Dolores (Hospital Universitari MútuaTerrassa) ; Carrillo, Fátima (Hospital Universitari MútuaTerrassa) ; Carrión-Claro, M (Hospital Universitari MútuaTerrassa) ; Mir, Pablo (Hospital Universitari MútuaTerrassa) ; Gómez-Garre, Pilar (Hospital Universitari MútuaTerrassa) ; Jesús, Silvia (Hospital Universitari MútuaTerrassa) ; Labrador-Espinosa, Miguel A. (Hospital Universitari MútuaTerrassa) ; Macias, Daniel (Hospital Universitari MútuaTerrassa) ; Vargas-González, Laura (Hospital Universitari MútuaTerrassa) ; Méndez-del-Barrio, Carlota (Hospital Universitari MútuaTerrassa) ; Periñán, Teresa (Hospital Universitari MútuaTerrassa) ; Tejera-Parrado, Cristina (Hospital Universitari MútuaTerrassa) ; Diez-Fairen, Monica (Hospital Universitario Central de Asturias) ; Aguilar, Miquel (Hospital Universitario Central de Asturias) ; Alvarez, Ignacio (Hospital Universitario Central de Asturias) ; Boungiorno, María Teresa (Hospital Universitario Central de Asturias) ; Carcel, Maria (Hospital Universitario Central de Asturias) ; Pastor, Pau (Hospital Universitario Central de Asturias) ; Tartari, Juan Pablo (Hospital Universitario Central de Asturias) ; Alvarez, Victoria (Hospital Universitario Parque Tecnologico de la Salud) ; Mendez-Gonzalez, Manuel (Hospital Universitario Parque Tecnologico de la Salud) ; Blazquez, Marta (Hospital Universitario Parque Tecnologico de la Salud) ; Garcia, Ciara (Hospital Universitario Parque Tecnologico de la Salud) ; Suarez-Sanmartin, Esther (Hospital Universitario Parque Tecnologico de la Salud) ; Barrero, Francisco Javier (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Mondragon Rezola, Elisabet (Hospital General de Segovia) ; Bergareche Yarza, Jesús Alberto (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Pagola, Ana Gorostidi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; de Munain Arregui, Adolfo Lopez (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Ruiz-Martínez, Javier (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Cerdan, Debora (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ; Duarte, Jacinto (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ; Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ; Infante, Jon (Instituto de Investigación Sanitaria de Granada) ; Marín, Juan (Hospital Clínic i Provincial de Barcelona) ; Kulisevsky, Jaime (Hospital Clínic i Provincial de Barcelona) ; Pagonabarraga Mora, Javier (Hospital Clínic i Provincial de Barcelona) ; Gonzalez-Aramburu, Isabel (Universidad de Granada) ; Sanchez Rodriguez, Antonio (Universidad de Granada) ; Sierra, Maria (Universidad de Granada) ; Duran, Raquel (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Ruz, Clara (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Vives, Francisco (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Escamilla Sevilla, Francisco (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Mínguez-Castellanos, Adolfo (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ; Cámara, Ana (Institut de Recerca Sant Joan de Déu) ; Compta, Yaroslau (Institut de Recerca Sant Joan de Déu) ; Ezquerra, Mario (Institut de Recerca Sant Joan de Déu) ; Marti, Maria Jose (Institut de Recerca Sant Joan de Déu) ; Fernández, Manel (Institut de Recerca Sant Joan de Déu) ; Muñoz, Esteban (Institut de Recerca Sant Joan de Déu) ; Fernández-Santiago, Rubén (Institut de Recerca Sant Joan de Déu) ; Tolosa, Eduard (Institut de Recerca Sant Joan de Déu) ; Valldeoriola, Francesc (Institut de Recerca Sant Joan de Déu) ; García-Ruiz, Pedro (Hospital Universitario Ramón y Cajal (Madrid)) ; Gómez-Heredia, Maria José (Hospital Universitari i Politècnic La Fe de Valencia) ; Perez Errazquin, Francisco (Hospital Universitari i Politècnic La Fe de Valencia) ; Hoenicka, Janet (Hospital General de Segovia) ; Jiménez-Escrig, Adriano (Hospital General de Segovia) ; Martínez-Castrillo, Juan Carlos (Hospital General de Segovia) ; Lopez-Sendon, Jose Luis (Hospital General de Segovia) ; Martinez Torres, Irene (Hospital Universitario Fundación Alcorcón) ; Tabernero, Cesar (Hospital Universitario Fundación Alcorcón) ; Vela, Lydia (Hospital Universitario Fundación Alcorcón) ; Zimprich, Alexander (Medical University of Vienna) ; Pihlstrom, Lasse (Oslo University Hospital (Oslo, Noruega)) ; Koks, Sulev (Perron Institute for Neurological and Translational Science) ; Taba, Pille (University of Tartu) ; Majamaa, Kari (Oulu University Hospital (Finlàndia)) ; Siitonen, Ari (Oulu University Hospital (Finlàndia)) ; Okubadejo, Njideka (University of Lago) ; Ojo, Oluwadamilola (University of Lago) ; Forabosco, Paola (Cittadella Universitaria di Cagliari) ; Walker, Robert (University of Edinburgh) ; Small, Kerrin (King's College London) ; Smith, Colin (University of Edinburgh) ; Ramasamy, Adaikalavan (Brenner Centre for Molecular Medicine) ; Hardy, John (University College London (UCL) Institute of Neurology) ; Weale, Michael (Genomics plc) ; Ryten, Mina (University College London (UCL) Institute of Neurology) ; Universitat Autònoma de Barcelona
Genome-wide association studies have generated an increasing number of common genetic variants associated with neurological and psychiatric disease risk. An improved understanding of the genetic control of gene expression in human brain is vital considering this is the likely modus operandum for many causal variants. [...]
2020 - 10.1038/s41467-020-14483-x
Nature communications, Vol. 11 Núm. 1 (january 2020) , p. 1041  
2.
15 p, 2.9 MB MethCORR modelling of methylomes from formalin-fixed paraffin-embedded tissue enables characterization and prognostication of colorectal cancer / Mattesen, T. B. (Aarhus University Hospital (Aarhus, Dinamarca)) ; Rasmussen, M. H. (Aarhus University Hospital (Aarhus, Dinamarca)) ; Sandoval, J. (Instituto de Investigación Sanitaria La Fe) ; Ongen, H. (Genetic Medicine and Development. University of Geneva Medical School-CMU) ; Árnadóttir, S. S. (Aarhus University Hospital (Aarhus, Dinamarca)) ; Gladov, J. (Aarhus University Hospital (Aarhus, Dinamarca)) ; Martínez Cardús, Anna (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Castro de Moura, Manuel (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Madsen, A. H. (Department of Surgery. Hospitalsenheden Vest) ; Laurberg, S. (Aarhus University Hospital (Aarhus, Dinamarca)) ; Dermitzakis, Emmanouil T (University of Geneva Medical School) ; Esteller, M. (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Andersen, Claus Lindbjerg (Aarhus University Hospital (Aarhus, Dinamarca)) ; Bramsen, Jesper Bertram (Aarhus University Hospital (Aarhus, Dinamarca)) ; Universitat Autònoma de Barcelona
Transcriptional characterization and classification has potential to resolve the inter-tumor heterogeneity of colorectal cancer and improve patient management. Yet, robust transcriptional profiling is difficult using formalin-fixed, paraffin-embedded (FFPE) samples, which complicates testing in clinical and archival material. [...]
2020 - 10.1038/s41467-020-16000-6
Nature communications, Vol. 11 Núm. 1 (january 2020) , p. 2025  
3.
17 p, 5.7 MB An integrated multi-omics approach identifies the landscape of interferon-α-mediated responses of human pancreatic beta cells / Colli, M. L. (ULB Center for Diabetes Research. Medical Faculty. Université Libre de Bruxelles) ; Ramos-Rodríguez, M. (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Nakayasu, E. S. (Biological Sciences Division. Pacific Northwest National Laboratory) ; Alvelos, M. I. (ULB Center for Diabetes Research. Medical Faculty. Université Libre de Bruxelles) ; Lopes, M. (ULB Center for Diabetes Research. Medical Faculty. Université Libre de Bruxelles) ; Hill, J. L. E. (Institute of Biomedical & Clinical Science. University of Exeter Medical School) ; Turatsinze, J. V. (ULB Center for Diabetes Research. Medical Faculty. Université Libre de Bruxelles) ; Coomans de Brachène, A. (ULB Center for Diabetes Research. Medical Faculty. Université Libre de Bruxelles) ; Russell, M. A. (Institute of Biomedical & Clinical Science. University of Exeter Medical School) ; Raurell Vila, Helena (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Castela, A. (ULB Center for Diabetes Research. Medical Faculty. Université Libre de Bruxelles) ; Juan-Mateu, J. (ULB Center for Diabetes Research. Medical Faculty. Université Libre de Bruxelles) ; Webb-Robertson, B. J. M. (Biological Sciences Division. Pacific Northwest National Laboratory) ; Krogvold, L. (Oslo University Hospital (Oslo, Noruega)) ; Dahl-Jorgensen, K. (Oslo University Hospital (Oslo, Noruega)) ; Marselli, L. (Department of Clinical and Experimental Medicine. Islet Cell Laboratory. University of Pisa) ; Marchetti, P. (Department of Clinical and Experimental Medicine. Islet Cell Laboratory. University of Pisa) ; Richardson, S. J. (Institute of Biomedical & Clinical Science. University of Exeter Medical School) ; Morgan, N. G. (Institute of Biomedical & Clinical Science. University of Exeter Medical School) ; Metz, T. O. (Biological Sciences Division. Pacific Northwest National Laboratory) ; Pasquali, Lorenzo (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Eizirik, D. L. (Indiana Biosciences Research Institute) ; Universitat Autònoma de Barcelona
Interferon-α (IFNα), a type I interferon, is expressed in the islets of type 1 diabetic individuals, and its expression and signaling are regulated by T1D genetic risk variants and viral infections associated with T1D. [...]
2020 - 10.1038/s41467-020-16327-0
Nature communications, Vol. 11 Núm. 1 (january 2020) , p. 2584  
4.
9 p, 1.3 MB The choline transporter Slc44a2 controls platelet activation and thrombosis by regulating mitochondrial function / Bennett, J.A. (University of Rochester Medical Center) ; Mastrangelo, M.A. (University of Rochester Medical Center) ; Ture, S.K. (University of Rochester Medical Center) ; Smith, C.O. (University of Rochester Medical Center) ; Loelius, S.G. (University of Rochester Medical Center) ; Berg, R.A. (University of Rochester Medical Center) ; Shi, X. (Beth Israel Deaconess Medical Center) ; Burke, R.M. (University of Rochester Medical Center) ; Spinelli, S.L. (University of Rochester Medical Center) ; Cameron, S.J. (University of Rochester Medical Center) ; Carey, T.E. (University of Michigan) ; Brookes, Paul S (University of Rochester Medical Center) ; Gerszten, R.E. (Beth Israel Deaconess Medical Center) ; Sabater-Lleal, Maria (Institut d'Investigació Biomèdica Sant Pau) ; de Vries, P.S. (The University of Texas Health Science Center at Houston) ; Huffman, Jennifer E (VA Boston Healthcare System) ; Smith, N.L. (Seattle Epidemiologic Research and Information Center) ; Morrell, C.N. (University of Rochester Medical Center) ; Lowenstein, C.J. (University of Rochester Medical Center) ; Universitat Autònoma de Barcelona
Genetic factors contribute to the risk of thrombotic diseases. Recent genome wide association studies have identified genetic loci including SLC44A2 which may regulate thrombosis. Here we show that Slc44a2 controls platelet activation and thrombosis by regulating mitochondrial energetics. [...]
2020 - 10.1038/s41467-020-17254-w
Nature communications, Vol. 11 Núm. 1 (january 2020) , p. 3479  
5.
14 p, 1.8 MB In vivo CRISPR/Cas9 targeting of fusion oncogenes for selective elimination of cancer cells / Martinez-Lage , Marta (Centro Nacional de Investigaciones Oncológicas) ; Torres, Raul (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Puig-Serra, Pilar (Centro Nacional de Investigaciones Oncológicas) ; Moreno-Gaona, Patricia (Centro Nacional de Investigaciones Oncológicas) ; Martin, M. Carmen (Centro Nacional de Investigaciones Oncológicas) ; Moya, Francisco J. (Centro Nacional de Investigaciones Oncológicas) ; Quintana-Bustamante, Oscar (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Garcia-Silva, Susana (Centro Nacional de Investigaciones Oncológicas) ; Carcaboso, Angel M (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Petazzi, Paolo (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Bueno, Clara (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Mora, Jaume (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Peinado, Héctor (Centro Nacional de Investigaciones Oncológicas) ; Segovia, Jose C. (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Menéndez Bujan, Pablo (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Rodriguez-Perales, Sandra (Centro Nacional de Investigaciones Oncológicas) ; Universitat Autònoma de Barcelona
Fusion oncogenes (FOs) are common in many cancer types and are powerful drivers of tumor development. Because their expression is exclusive to cancer cells and their elimination induces cell apoptosis in FO-driven cancers, FOs are attractive therapeutic targets. [...]
2020 - 10.1038/s41467-020-18875-x
Nature communications, Vol. 11 Núm. 1 (january 2020) , p. 5060  

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