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13 p, 2.4 MB |
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage
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Chen, Zhongbo (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
Zhang, David (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
Reynolds, Regina H. (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
Gustavsson, Emil K. (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
García-Ruiz, Sonia (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
D'Sa, Karishma (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
Fairbrother-Browne, Aine (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
Vandrovcova, Jana (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Noyce, Alastair J. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Kaiyrzhanov, Rauan (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Middlehurst, Ben (Institute of Translational Medicine. University of Liverpool) ;
Kia, Demis A. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Tan, Manuela (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Morris, Huw R. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Plun-Favreau, Helen (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Holmans, Peter (MRC Centre for Neuropsychiatric Genetics & Genomics) ;
Trabzuni, Daniah (Department of Genetics. King Faisal Specialist Hospital and Research Centre) ;
Bras, Jose (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Quinn, John (Institute of Translational Medicine. University of Liverpool) ;
Mok, Kin Y. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Kinghorn, Kerri J. (Institute of Healthy Ageing. University College London (UCL)) ;
Billingsley, Kimberley (Institute of Translational Medicine. University of Liverpool) ;
Wood, Nicholas W.. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Lewis, Patrick (University of Reading) ;
Schreglmann, Sebastian (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Guerreiro, Rita (UK Dementia Research Institute. University College London (UCL)) ;
Lovering, Ruth (Institute of Cardiovascular Science. University College London (UCL)) ;
R'Bibo, Lea (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Manzoni, Claudia (University of Reading) ;
Rizig, Mie (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Guelfi, Sebastian (Department of Neurodegenerative Disease. Queen Square Institute of Neurology. University College London (UCL)) ;
Escott-Price, Valentina (Cardiff University School of Medicine) ;
Chelban, Viorica (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Foltynie, Thomas (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Williams, Nigel (Cardiff University School of Medicine) ;
Brice, Alexis (Institut du Cerveau et de la Moelle épinière (París, França)) ;
Danjou, Fabrice (Institut du Cerveau et de la Moelle épinière (París, França)) ;
Lesage, Suzanne (Institut du Cerveau et de la Moelle épinière (París, França)) ;
Corvol, Jean-Christophe (Institut du Cerveau et de la Moelle épinière (París, França)) ;
Martinez Rande, Maria (INSERM UMR 1220 and Paul Sabatier University) ;
Schulte, Claudia (German Center for Neurodegenerative Diseases) ;
Brockmann, Kathrin (German Center for Neurodegenerative Diseases) ;
Simón-Sánchez, Javier (German Center for Neurodegenerative Diseases) ;
Heutink, Peter (German Center for Neurodegenerative Diseases) ;
Rizzu, Patrizia (German Center for Neurodegenerative Diseases) ;
Sharma, Manu (Centre for Genetic Epidemiology. Institute for Clinical Epidemiology and Applied Biometry. University of Tubingen) ;
Gasser, Thomas (German Center for Neurodegenerative Diseases) ;
Nicolas, Aude (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)) ;
Blauwendraat, Cornelis (National Institute of Neurological Disorders and Stroke) ;
Craig, David W (Department of Translational Genomics. Keck School of Medicine. University of Southern California) ;
Faghri, Faraz (Department of Computer Science. University of Illinois at Urbana-Champaign) ;
Gibbs, J.Raphael (National Institute on Aging (Estats Units d'Amèrica)) ;
Hernandez, Dena G. (National Institute on Aging (Estats Units d'Amèrica)) ;
Van Keuren-Jensen, Kendall (Neurogenomics Division. TGen) ;
Shulman, Joshua M. (Jan and Dan Duncan Neurological Research Institute. Texas Children's Hospital) ;
Leonard, Hampton L. (Laboratory of Neurogenetics. National Institute on Aging) ;
Nalls, Mike A. (Data Tecnica International) ;
Robak, Laurie (Jan and Dan Duncan Neurological Research Institute. Texas Children's Hospital) ;
Lubbe, Steven (Ken and Ruth Davee Department of Neurology. Northwestern University Feinberg School of Medicine) ;
Finkbeiner, Steven (Taube/Koret Center for Neurodegenerative Disease Research) ;
Mencacci, Niccolo E. (Northwestern University Feinberg School of Medicine) ;
Lungu, Codrin (National Institutes of Health Division of Clinical Research. NINDS. National Institutes of Health) ;
Singleton, Andrew B. (Laboratory of Neurogenetics. National Institute on Aging) ;
Scholz, Sonja (Neurodegenerative Diseases Research Unit. National Institute of Neurological Disorders and Stroke) ;
Reed, Xylena (Laboratory of Neurogenetics. National Institute on Aging) ;
Alcalay, Roy N (Taub Institute for Research on Alzheimer's Disease and the Aging Brain. College of Physicians and Surgeons. Columbia University Medical Center) ;
Gan-Or, Ziv (McGill University) ;
Rouleau, Guy A. (McGill University) ;
Krohn, Lynne (McGill University) ;
van Hilten, Jacobus J. (Department of Neurology. Leiden University Medical Center) ;
Marinus, Johan (Department of Neurology. Leiden University Medical Center) ;
Adarmes-Gómez, A.D (Instituto de Biomedicina de Sevilla) ;
Aguilar Barberà, Miquel (Fundacio per la Recerca Biomedica i Social Mutua Terrassa) ;
Alvarez, Ignacio (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Alvarez, Victoria (Hospital Universitario Central de Asturias) ;
Barrero, Francisco Javier (Hospital Universitario San Cecilio (Granada)) ;
Bergareche Yarza, Jesús Alberto (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Bernal-Bernal, Inmaculada (Hospital Clínic i Provincial de Barcelona) ;
Blázquez Estrada, Marta (Hospital Universitario Central de Asturias) ;
Bonilla-Toribio, Marta (Hospital Clínic i Provincial de Barcelona) ;
Botía, Juan (Universidad de Murcia. Departamento de Ingeniería de la Información y las Comunicaciones) ;
Boungiorno, M. T (Fundacio per la Recerca Biomedica i Social Mutua Terrassa) ;
Buiza-Rueda, Dolores (Instituto de Biomedicina de Sevilla) ;
Cámara, Ana (Hospital Clínic i Provincial de Barcelona) ;
Carrillo, Fátima (Instituto de Biomedicina de Sevilla) ;
Carrión-Claro, M (Instituto de Biomedicina de Sevilla) ;
Cerdan, Debora (Hospital General de Segovia) ;
Clarimón, Jordi (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Compta, Yaroslau (Hospital Clínic i Provincial de Barcelona) ;
Diez-Fairen, Monica (Fundacio per la Recerca Biomedica i Social Mutua Terrassa) ;
Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ;
Duarte, Jacinto (Hospital General de Segovia) ;
Duran, Raquel (Centro de Investigacion Biomedica. Universidad de Granada) ;
Escamilla-Sevilla, Francisco (Instituto de Investigación Sanitaria de Granada) ;
Ezquerra, Mario (Hospital Clínic i Provincial de Barcelona) ;
Feliz, Cici (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
Fernández, Manel (Hospital Clínic i Provincial de Barcelona) ;
Fernández-Santiago, Rubén (Hospital Clínic i Provincial de Barcelona) ;
Garcia, Ciara (Hospital Universitario Central de Asturias) ;
García-Ruiz, Pedro (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
Gómez-Garre, Pilar (Instituto de Biomedicina de Sevilla) ;
Gomez Heredia, Maria Jose (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ;
Gonzalez-Aramburu, Isabel (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ;
Gorostidi Pagola, Ana (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Hoenicka, Janet (Institut de Recerca Sant Joan de Déu) ;
Infante, Jon (Hospital Universitario Ramón y Cajal (Madrid)) ;
Jesús, Silvia (Instituto de Biomedicina de Sevilla) ;
Jimenez-Escrig, Adriano (Hospital Universitario Ramón y Cajal (Madrid)) ;
Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ;
Labrador-Espinosa, Miguel A (Instituto de Biomedicina de Sevilla) ;
Lopez-Sendon, Jose Luis (Hospital Universitario Ramón y Cajal (Madrid)) ;
López de Munain Arregui, Adolfo (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Macias, Daniel (Instituto de Biomedicina de Sevilla) ;
Martínez Torres, Irene (Hospital Universitari i Politècnic La Fe (València)) ;
Marín, Juan (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Marti, Maria Jose (Hospital Clínic i Provincial de Barcelona) ;
Martínez-Castrillo, Juan Carlos (Hospital Universitario Ramón y Cajal (Madrid)) ;
Méndez-del-Barrio, Carlota (Instituto de Biomedicina de Sevilla) ;
Menéndez González, Manuel (Hospital Universitario Central de Asturias) ;
Mata, Marina (Hospital Universitario Infanta Sofía (San Sebastián de los Reyes)) ;
Mínguez, Adolfo (Instituto de Investigación Sanitaria de Granada) ;
Mir, Pablo (Instituto de Biomedicina de Sevilla) ;
Mondragon Rezola, Elisabet (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Muñoz, Esteban (Instituto de Biomedicina de Sevilla) ;
Pagonabarraga Mora, Javier (Institut d'Investigació Biomèdica Sant Pau) ;
Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Perez Errazquin, Francisco (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ;
Periñán-Tocino, Teresa (Instituto de Biomedicina de Sevilla) ;
Ruiz-Martínez, Javier (Hospital Universitario Donostia. Instituto de Investigación Sanitaria Biodonostia) ;
Ruz, Clara (Centro de Investigacion Biomedica. Universidad de Granada) ;
Sanchez Rodriguez, Antonio (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ;
Sierra, María (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ;
Suarez-Sanmartin, Esther (Hospital Universitario Central de Asturias) ;
Tabernero, Cesar (Hospital General de Segovia) ;
Tartari, Juan Pablo (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Tejera-Parrado, Cristina (Instituto de Biomedicina de Sevilla) ;
Tolosa, Eduard (Hospital Clínic i Provincial de Barcelona) ;
Valldeoriola, Francesc (Hospital Clínic i Provincial de Barcelona) ;
Vargas-González, Laura (Instituto de Biomedicina de Sevilla) ;
Vela, Lydia (Hospital Universitario Fundación Alcorcón) ;
Vives, Francisco (Centro de Investigacion Biomedica. Universidad de Granada) ;
Zimprich, Alexander (Department of Neurology. Medical University of Vienna) ;
Pihlstrom, Lasse (Oslo University Hospital (Oslo, Noruega)) ;
Toft, Mathias (Oslo University Hospital (Oslo, Noruega)) ;
Koks, Sulev (Department of Reproductive Biology. Estonian University of Life Sciences) ;
Taba, Pille (Department of Neurology and Neurosurgery. University of Tartu) ;
Hassin-Baer, Sharon (Sackler Faculty of Medicine. Tel Aviv University) ;
Hardy, John (Institute for Advanced Study. The Hong Kong University of Science and Technology. The Hong Kong University of Science and Technology) ;
Houlden, Henry (Department of Neuromuscular Disease. Queen Square Institute of Neurology. UCL) ;
Gagliano Taliun, Sarah A. (Montréal Heart Institute) ;
Botía, Juan (Universidad de Murcia. Departamento de Ingeniería de la Información y las Comunicaciones) ;
Ryten, Mina (Great Ormond Street Institute of Child Health (Londres, Regne Unit)) ;
Universitat Autònoma de Barcelona
Knowledge of genomic features specific to the human lineage may provide insights into brain-related diseases. We leverage high-depth whole genome sequencing data to generate a combined annotation identifying regions simultaneously depleted for genetic variation (constrained regions) and poorly conserved across primates. [...]
2021 -  10.1038/s41467-021-22262-5
Nature communications, Vol. 12 Núm. 1 (january 2021) , p. 2076
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12 p, 1.9 MB |
Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease
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Watt, Stephen (Human Genetics. Wellcome Sanger Institute. Genome Campus) ;
Vasquez, Louella (Human Genetics. Wellcome Sanger Institute. Genome Campus) ;
Walter, Klaudia (Human Genetics. Wellcome Sanger Institute. Genome Campus) ;
Mann, Alice L. (Human Genetics. Wellcome Sanger Institute. Genome Campus) ;
Kundu, Kousik (School of Clinical Medicine. University of Cambridge) ;
Chen, Lu (Sichuan University) ;
Sims, Ying (Human Genetics. Wellcome Sanger Institute. Genome Campus) ;
Ecker, Simone (UCL Cancer Institute) ;
Burden, Frances (National Health Service Blood and Transplant) ;
Farrow, Samantha (National Health Service Blood and Transplant) ;
Farr, Ben (Human Genetics. Wellcome Sanger Institute. Genome Campus) ;
Iotchkova, Valentina (University of Oxford) ;
Elding, Heather (Human Genetics. Wellcome Sanger Institute. Genome Campus) ;
Mead, Daniel (Human Genetics. Wellcome Sanger Institute. Genome Campus) ;
Tardaguila, Manuel (Human Genetics. Wellcome Sanger Institute. Genome Campus) ;
Ponstingl, Hannes (Human Genetics. Wellcome Sanger Institute. Genome Campus) ;
Richardson, David (European Molecular Biology Laboratory. European Bioinformatics Institute) ;
Datta, Avik (European Molecular Biology Laboratory. European Bioinformatics Institute) ;
Flicek, Paul (European Molecular Biology Laboratory. European Bioinformatics Institute) ;
Clarke, Laura (European Molecular Biology Laboratory. European Bioinformatics Institute) ;
Downes, Kate (National Health Service Blood and Transplant) ;
Pastinen, Tomi (Center for Pediatric Genomic Medicine. Children's Mercy) ;
Fraser, Peter (Florida State University) ;
Frontini, Mattia (University of Exeter Medical School) ;
Javierre, B. M (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Spivakov, Mikhail (Imperial College Faculty of Medicine) ;
Soranzo, Nicole (University of Cambridge)
Neutrophils play fundamental roles in innate immune response, shape adaptive immunity, and are a potentially causal cell type underpinning genetic associations with immune system traits and diseases. [...]
2021 - 10.1038/s41467-021-22548-8
Nature communications, Vol. 12 Núm. 1 (january 2021) , p. 2298
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12 p, 2.0 MB |
A multicentre validation study of the diagnostic value of plasma neurofilament light
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Ashton, Nicholas J. (NIHR Biomedical Research Centre for Mental Health (Londres, Regne Unit)) ;
Janelidze, Shorena (Clinical Memory Research Unit. Department of Clinical Sciences Malmö. Lund University) ;
Al Khleifat, Ahmad (Department of Basic and Clinical Neuroscience. Maurice Wohl Clinical Neuroscience Institute. King's College London) ;
Leuzy, Antoine (Clinical Memory Research Unit. Department of Clinical Sciences Malmö. Lund University) ;
van der Ende, Emma L. (Alzheimer Center Rotterdam and Dept. of Neurology. Erasmus University Medical Center) ;
Karikari, Thomas K (Department of Psychiatry and Neurochemistry. Institute of Neuroscience & Physiology. The Sahlgrenska Academy at the University of Gothenburg) ;
Benedet, AndreaL. (Montreal Neurological Institute) ;
Pascoal, Tharick A. (Montreal Neurological Institute) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Parnetti, Lucilla (Laboratory of Clinical Neurochemistry. Neurology Clinic. University of Perugia) ;
Galimberti, Daniela (University of Milan) ;
Bonanni, Laura (Department of Neuroscience. Imaging and Clinical Sciences. University G.d'Annunzio of Chieti-Pescara) ;
Pilotto, Andrea (Parkinson's Disease Rehabilitation Centre. FERB ONLUS) ;
Padovani, Alessandro (Neurology Unit. Department of Clinical and Experimental Sciences. University of Brescia) ;
Lycke, Jan (Sahlgrenska University Hospital (Suècia)) ;
Novakova, Lenka (Sahlgrenska University Hospital (Suècia)) ;
Axelsson, Markus (Sahlgrenska University Hospital (Suècia)) ;
Velayudhan, Latha (Department of Health Sciences. University of Leicester) ;
Rabinovici, Gil D. (Department of Radiology & Biomedical Imaging. University of California) ;
Miller, Bruce L. (University of California San Francisco. Memory and Aging Center) ;
Pariante, Carmine M (Stress. Psychiatry and Immunology Lab & Perinatal Psychiatry. Maurice Wohl Clinical Neuroscience Institute. King's College London) ;
Nikkheslat, Naghmeh (King's College London (Regne Unit)) ;
Resnick, Susan M. (Brain Aging and Behavior Section. Laboratory of Behavioral Neuroscience. National Institute on Aging. National Institutes of Health) ;
Thambisetty, Madhav (Clinical and Translational Neuroscience Section. Laboratory of Behavioral Neuroscience. National Institute on Aging. National Institutes of Health) ;
Schöll, Michael (Department of Neurodegenerative Disease. Queen Square Institute of Neurology. University College London) ;
Fernández-Eulate, Gorka (Department of Neurology. Donostia University Hospital. Osakidetza) ;
Gil-Bea, Francisco J. (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
López de Munain, Adolfo (Universidad del País Vasco. Departamento de Neurociencias) ;
Al-Chalabi, Ammar (King's College Hospital NHS Foundation Trust) ;
Rosa-Neto, Pedro (Montreal Neurological Institute) ;
Strydom, Andre (London Down Syndrome Consortium (LonDowns)) ;
Svenningsson, Per (Karolinska Institutet (Estocolm, Suècia). Department of Clinical Neuroscience) ;
Stomrud, Erik (Skåne University Hospital (Suècia)) ;
Santillo, Alexander (Lund University. Department of Clinical Sciences Malmö) ;
Aarsland, Dag (Stavanger University Hospital) ;
van Swieten, John C. (Erasmus University Medical Center) ;
Palmqvist, Sebastian (Lund University. Skåne University Hospital) ;
Zetterberg, Henrik (University College London. UK Dementia Research Institute) ;
Blennow, Kaj (Sahlgrenska University Hospital (Suècia)) ;
Hye, Abdul (Stavanger University Hospital) ;
Hansson, Oskar (Skåne University Hospital (Suècia))
Increased cerebrospinal fluid neurofilament light (NfL) is a recognized biomarker for neurodegeneration that can also be assessed in blood. Here, we investigate plasma NfL as a marker of neurodegeneration in 13 neurodegenerative disorders, Down syndrome, depression and cognitively unimpaired controls from two multicenter cohorts: King's College London (n = 805) and the Swedish BioFINDER study (n = 1,464). [...]
2021 - 10.1038/s41467-021-23620-z
Nature communications, Vol. 12 Núm. 1 (january 2021) , p. 3400
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15 p, 2.7 MB |
Targeting aberrant DNA methylation in mesenchymal stromal cells as a treatment for myeloma bone disease
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García Gómez, Antonio (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Li, Tianlu (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
de la Calle-Fabregat, Carlos (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Rodríguez-Ubreva, Javier (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Ciudad, Laura (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Català-Moll, Francesc (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Godoy-Tena, Gerard (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Martín Sánchez, Montserrat (Universidad de Salamanca) ;
San Segundo, Laura (Universidad de Salamanca) ;
Muntión, Sandra (Universidad de Salamanca) ;
Morales, Xabier (Universidad de Navarra) ;
Ortiz de Solórzano, Carlos (Universidad de Navarra) ;
Oyarzabal, Julen (Universidad de Navarra) ;
San José Enériz, Edurne (Universidad de Navarra) ;
Esteller, M (Universitat de Barcelona. Departament de Ciències Fisiològiques) ;
Agirre, Xabier (Universidad de Navarra) ;
Prosper, Felipe (Universidad de Navarra) ;
Garayoa, Mercedes (Universidad de Salamanca) ;
Ballestar, Esteban (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Multiple myeloma (MM) progression and myeloma-associated bone disease (MBD) are highly dependent on bone marrow mesenchymal stromal cells (MSCs). MM-MSCs exhibit abnormal transcriptomes, suggesting the involvement of epigenetic mechanisms governing their tumor-promoting functions and prolonged osteoblast suppression. [...]
2021 - 10.1038/s41467-020-20715-x
Nature communications, Vol. 12 Núm. 1 (december 2021) , p. 421
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14 p, 5.6 MB |
SMARCA4 deficient tumours are vulnerable to KDM6A/UTX and KDM6B/JMJD3 blockade
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Romero, Octavio A. (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Vilarrubi, Andrea (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Alburquerque-Béjar, Juan Jos (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Gómez Moruno, Antonio (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Andrades, Álvaro (Universidad de Granada) ;
Trastulli, Deborah (Institut d'Investigació Biomèdica de Bellvitge) ;
Pros, Eva (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Setien, Fernando (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Verdura, Sara (Institut d'Investigació Biomèdica de Bellvitge) ;
Farre, Lourdes (Institut d'Investigació Biomèdica de Bellvitge) ;
Martín-Tejera, Juan F. (Institut d'Investigació Biomèdica de Bellvitge) ;
Llabata, Paula (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Oaknin, Ana (Hospital Universitari Vall d'Hebron) ;
Saigi, María (Institut Català d'Oncologia) ;
Piulats, Josep M. (Institut Català d'Oncologia) ;
Matias-Guiu, Xavier (Institut d'Investigació Biomèdica de Bellvitge) ;
Medina, Pedro P. (Universidad de Granada) ;
Vidal, August (Parc Científic de Barcelona) ;
Villanueva, Alberto (Parc Científic de Barcelona) ;
Sanchez-Cespedes, Montse (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Universitat Autònoma de Barcelona
Despite the genetic inactivation of SMARCA4, a core component of the SWI/SNF-complex commonly found in cancer, there are no therapies that effectively target SMARCA4-deficient tumours. Here, we show that, unlike the cells with activated MYC oncogene, cells with SMARCA4 inactivation are refractory to the histone deacetylase inhibitor, SAHA, leading to the aberrant accumulation of H3K27me3. [...]
2021 - 10.1038/s41467-021-24618-3
Nature communications, Vol. 12 Núm. 1 (january 2021) , p. 4319
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15 p, 3.4 MB |
Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome
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Garcia, Patricia (Universidad de Salamanca) ;
Fernández Hernández, Rita (Institut d'Investigació Biomèdica de Bellvitge) ;
Cuadrado, Ana (Centro Nacional de Investigaciones Oncológicas) ;
Coca, Ignacio (Genomics Laboratory (Barcelona)) ;
Gómez, Antonio (Parc Científic de Barcelona) ;
Maqueda, Maria (Institut d'Investigació Biomèdica de Bellvitge) ;
Latorre Pellicer, Ana (Universidad de Zaragoza) ;
Puisac, Beatriz (Universidad de Zaragoza) ;
Ramos, Feliciano J. (Universidad de Zaragoza) ;
Sandoval, Juan (Instituto de Investigación Sanitaria La Fe) ;
Esteller, M (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Mosquera, José Luis (Institut d'Investigació Biomèdica de Bellvitge) ;
Rodríguez, Jairo (Genomics Laboratory (Barcelona)) ;
Pié, J. (Universidad de Zaragoza) ;
Losada, Ana (Centro Nacional de Investigaciones Oncológicas) ;
Queralt, Ethel (Instituto de Biomedicina de Valencia (IBV-CSIC)) ;
Universitat Autònoma de Barcelona
Cornelia de Lange syndrome (CdLS) is a rare disease affecting multiple organs and systems during development. Mutations in the cohesin loader, NIPBL/Scc2, were first described and are the most frequent in clinically diagnosed CdLS patients. [...]
2021 - 10.1038/s41467-021-24808-z
Nature communications, Vol. 12 Núm. 1 (january 2021) , p. 4551
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11 p, 4.1 MB |
The evolution of hematopoietic cells under cancer therapy
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Pich, Oriol (Institut de Recerca Biomèdica) ;
Cortes-Bullich, A. (Institut d'Investigació Biomèdica Sant Pau) ;
Muiños, Ferran (Institut de Recerca Biomèdica) ;
Pratcorona, Marta (Institut d'Investigació Biomèdica Sant Pau) ;
Gonzalez-Perez, A. (Universitat Pompeu Fabra) ;
Lopez-Bigas, N. (Institució Catalana de Recerca i Estudis Avançats)
Chemotherapies may increase mutagenesis of healthy cells and change the selective pressures in tissues, thus influencing their evolution. However, their contributions to the mutation burden and clonal expansions of healthy somatic tissues are not clear. [...]
2021 - 10.1038/s41467-021-24858-3
Nature communications, Vol. 12 Núm. 1 (january 2021) , p. 4803
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10 p, 2.4 MB |
Sarcoma classification by DNA methylation profiling
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Koelsche, Christian (Heidelberg University Hospital (Alemanya)) ;
Schrimpf, Daniel (German Cancer Research Center) ;
Stichel, Damian (German Cancer Research Center) ;
Sill, Martin (German Cancer Research Center) ;
Sahm, Felix (German Cancer Research Center) ;
Reuss, David E. (German Cancer Research Center) ;
Blattner, Mirjam (German Cancer Research Center) ;
Worst, Barbara (Heidelberg University Hospital (Alemanya)) ;
Heilig, Christoph E. (German Cancer Consortium) ;
Beck, Katja (German Cancer Research Center) ;
Horak, Peter (German Cancer Consortium) ;
Kreutzfeldt, Simon (German Cancer Consortium) ;
Paff, Elke (Heidelberg University Hospital (Alemanya)) ;
Stark, Sebastian (Heidelberg University Hospital (Alemanya)) ;
Johann, Pascal (Heidelberg University Hospital (Alemanya)) ;
Selt, Florian (German Cancer Research Center) ;
Ecker, Jonas (German Cancer Research Center) ;
Sturm, Dominik (Heidelberg University Hospital (Alemanya)) ;
Pajtler, Kristian W. (Heidelberg University Hospital (Alemanya)) ;
Reinhardt, Annekathrin (German Cancer Research Center) ;
Wefers, Annika K. (German Cancer Research Center) ;
Sievers, Philipp (German Cancer Research Center) ;
Ebrahimi, Azadeh (German Cancer Research Center) ;
Suwala, Abigail (German Cancer Research Center) ;
Fernández-Klett, Francisco (German Cancer Research Center) ;
Casalini, Belén (German Cancer Research Center) ;
Korshunov, Andrey (German Cancer Research Center) ;
Hovestadt, Volker (Harvard Medical School) ;
Kommoss, Felix K.F. (DHeidelberg University Hospital) ;
Kriegsmann, Mark (Heidelberg University Hospital (Alemanya)) ;
Schick, Matthias (German Cancer Research Center) ;
Bewerunge-Hudler, Melanie (German Cancer Research Center) ;
Milde, Till (German Cancer Research Center) ;
Witt, Olaf (German Cancer Research Center) ;
Kulozik, Andreas E. (eidelberg University Hospital) ;
Kool, Marcel (German Cancer Research Center) ;
Romero-Pérez, Laura (LMU Munich) ;
Grünewald, Thomas G.P. (LMU Munich) ;
Kirchner, Thomas (LMU Munich) ;
Wick, Wolfgang (German Cancer Research Center) ;
Platten, Michael (German Cancer Research Center) ;
Unterberg, Andreas (Heidelberg University Hospital (Alemanya)) ;
Uhl, Matthias (Heidelberg Institute of Radiation Oncology) ;
Abdollahi, Amir (German Cancer Research Center) ;
Debus, Jürgen (German Cancer Research Center) ;
Lehner, Burkhard (Heidelberg University Hospital (Alemanya)) ;
Thomas, Christian (University Hospital of Münster (Alemanya)) ;
Hasselblatt, Martin (University Hospital of Münster (Alemanya)) ;
Paulus, Werner (University Hospital of Münster (Alemanya)) ;
Hartmann, Christian (Hannover Medical School) ;
Staszewski, Ori (University of Freiburg) ;
Prinz, Marco (University of Freiburg) ;
Hench, Jürgen (University Hospital Basel (Basilea, Suïssa)) ;
Frank, Stephan (University Hospital Basel (Basilea, Suïssa)) ;
Versleijen-Jonkers, Yvonne M.H. (Radboud University Medical Center) ;
Weidema, Marije E. (Radboud University Medical Center) ;
Mentzel, Thomas (Dermatopathology Bodensee) ;
Griewank, Klaus (University Duisburg-Essen) ;
De Álava, Enrique (Universidad de Sevilla) ;
Díaz-Martín, Juan (Instituto de Biomedicina de Sevilla) ;
Idoate Gastearena, Miguel A. (Clínica Universidad de Navarra) ;
Chang, Kenneth Tou-En (Department of Pathology and Laboratory Medicine. KK Women's and Children's Hospital) ;
Low, Sharon Yin Yee (National Neuroscience Institute (Singapur)) ;
Cuevas-Bourdier, Adrian (Laboratoire National de Santé (França)) ;
Mittelbronn, Michel (Luxembourg Institute of Health) ;
Mynarek, Martin (University Medical Center Hamburg-Eppendorf) ;
Rutkowski, Stefan (University Medical Center Hamburg-Eppendorf) ;
Schüller, Ulrich (Research Institute Children's Cancer Center Hamburg) ;
Mautner, Viktor F. (University Medical Center Hamburg-Eppendorf) ;
Schittenhelm, Jens (Institute of Pathology and Neuropathology. University Hospital of Tübingen) ;
Serrano, Jonathan (New York University School of Medicine) ;
Snuderl, Matija (New York University School of Medicine) ;
Büttner, Reinhard (Uniklinik Köln (Colònia, Alemanya)) ;
Klingebiel, Thomas (University Children's Hospital) ;
Buslei, Rolf (Sozialstiftung Bamberg. Klinikum am Bruderwald) ;
Gessler, Manfred (Würzburg University) ;
Wesseling, Pieter (Amsterdam University Medical Centers/VUmc) ;
Dinjens, Winand N.M. (Erasmus MC Cancer Institute) ;
Brandner, Sebastian (University College London Hospitals NHS Foundation Trust) ;
Jaunmuktane, Zane (University College London) ;
Lyskjær, Iben (University College London) ;
Schirmacher, Peter (Heidelberg University Hospital (Alemanya)) ;
Stenzinger, Albretch (Heidelberg University Hospital (Alemanya)) ;
Brors, Benedikt (German Cancer Research Center) ;
Glimm, Hanno (German Cancer Consortium) ;
Heining, Christoph (German Cancer Consortium) ;
Tirado, Oscar M. (Institut d'Investigació Biomèdica de Bellvitge) ;
Sáinz-Jaspeado, Miguel (Institut d'Investigació Biomèdica de Bellvitge) ;
Mora, Jaume (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Alonso, Javier (Instituto de Salud Carlos III) ;
Garcia del Muro, Xavier (Institut d'Investigació Biomèdica de Bellvitge) ;
Moran, S (Institut d'Investigació Biomèdica de Bellvitge) ;
Esteller, M (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Benhamida, Jamal K. (Memorial Sloan Kettering Cancer Center) ;
Ladanyi, Marc (Department of Pathology. Memorial Sloan Kettering Cancer Center) ;
Wardelmann, Eva (University Hospital of Münster (Alemanya)) ;
Antonescu, Cristina (Memorial Sloan Kettering Cancer Center) ;
Flanagan, Adrienne (University College London Cancer Institute) ;
Dirksen, Uta (University Duisburg-Essen) ;
Hohenberger, Peter (University of Heidelberg) ;
Baumhoer, Daniel (University Hospital Basel (Basilea, Suïssa)) ;
Hartmann, Wolfgang (University Hospital of Münster (Alemanya)) ;
Vokuhl, Christian (Universitätsklinikum Schleswig-Holstein (Alemanya)) ;
Flucke, Uta (Radboud University Medical Center) ;
Petersen, Iver (Institute of Pathology) ;
Mechtersheimer, Gunhild (Heidelberg University Hospital (Alemanya)) ;
Capper, David (Charité - Universitätsmedizin Berlin) ;
Jones, David T.W. (PGerman Cancer Research Center) ;
Fröhling, Stefan (German Cancer Consortium) ;
Pfister, Stefan M. (Heidelberg University Hospital (Alemanya)) ;
von Deimling, Andreas (German Cancer Research Center)
Sarcomas are malignant soft tissue and bone tumours affecting adults, adolescents and children. They represent a morphologically heterogeneous class of tumours and some entities lack defining histopathological features. [...]
2021 - 10.1038/s41467-020-20603-4
Nature communications, Vol. 12 Núm. 1 (january 2021) , p. 498
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14 p, 1.9 MB |
Molecular and functional profiling identifies therapeutically targetable vulnerabilities in plasmablastic lymphoma
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Frontzek, Fabian (University Hospital of Münster (Alemanya)) ;
Staiger, Annette M. (Robert Bosch Hospital) ;
Zapukhlyak, Myroslav (University Hospital of Münster (Alemanya)) ;
Xu, Wendan (University Hospital of Münster (Alemanya)) ;
Bonzheim, Irina (University Hospital of Tübingen (Alemanya)) ;
Borgmann, Vanessa (University Hospital of Tübingen (Alemanya)) ;
Sander, Philip (University Hospital of Tübingen (Alemanya)) ;
Baptista, Maria Joao (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Heming, Jan-Niklas (University Hospital of Münster (Alemanya)) ;
Berning, Philipp (University Hospital of Münster (Alemanya)) ;
Wullenkord, Ramona (University Hospital of Münster (Alemanya)) ;
Erdmann, Tabea (University Hospital of Münster (Alemanya)) ;
Lutz, Mathias (University Hospital of Münster (Alemanya)) ;
Veratti, Pia (University Hospital Freiburg) ;
Ehrenfeld, Sophia (University of Freiburg) ;
Wienand, Kirsty (University Medical Center Göttingen) ;
Horn, Heike (Robert Bosch Hospital) ;
Goodlad, John R. (Queen Elizabeth University Hospital) ;
Wilson, Matthew R. (Beatson West of Scotland Cancer Centre (Glasgow, Regne Unit)) ;
Anagnostopoulos, Ioannis (Charité - Universitätsmedizin Berlin) ;
Lamping, Mario (Charité - Universitätsmedizin Berlin) ;
González Barca, Eva (Universitat de Barcelona) ;
Climent, Fina (Institut d'Investigació Biomèdica de Bellvitge) ;
Salar, Antonio (Hospital del Mar (Barcelona, Catalunya)) ;
Castellvi, Josep (Hospital Universitari Vall d'Hebron) ;
Abrisqueta, Pau (Hospital Universitari Vall d'Hebron) ;
Menarguez, Javier (Hospital General Universitario Gregorio Marañón) ;
Aldámiz-Echevarría, T (Hospital General Universitario Gregorio Marañón) ;
Richter, Julia (Christian-Albrechts-University) ;
Klapper, Wolfram (Christian-Albrechts-University) ;
Tzankov, Alexander (University Hospital Basel (Basilea, Suïssa)) ;
Dirnhofer, Stefan (University Hospital Basel (Basilea, Suïssa)) ;
Rosenwald, Andreas (University of Würzburg) ;
Mate Sanz, Jose Luís (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Tapia, Gustavo (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Lenz, Peter (Department of Physics. University of Marburg) ;
Miething, C. (German Cancer Research Center) ;
Hartmann, Wolfgang (University Hospital of Münster (Alemanya)) ;
Chapuy, Björn (University Medical Center Göttingen) ;
Fend, Falko (University Hospital of Tübingen (Alemanya)) ;
Ott, Gustav (Department of Clinical Pathology. Robert Bosch Hospital) ;
Navarro, José-Tomás (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Grau, Michael (University Hospital of Münster (Alemanya)) ;
Lenz, Georg (University Hospital of Münster (Alemanya)) ;
Universitat Autònoma de Barcelona
Plasmablastic lymphoma (PBL) represents a rare and aggressive lymphoma subtype frequently associated with immunosuppression. Clinically, patients with PBL are characterized by poor outcome. The current understanding of the molecular pathogenesis is limited. [...]
2021 - 10.1038/s41467-021-25405-w
Nature communications, Vol. 12 Núm. 1 (january 2021) , p. 5183
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13 p, 1.2 MB |
Inhibition of CBP synergizes with the RNA-dependent mechanisms of Azacitidine by limiting protein synthesis
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Diesch, Jeannine (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Le Pannérer, Marguerite Marie (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Winkler, René (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Casquero, Raquel (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Muhar, Matthias (Research Institute of Molecular Pathology (IMP). Vienna BioCenter (VBC)) ;
van der Garde, Mark (German Cancer Consortium (DKTK). Partner Site Munich) ;
Maher, Michael (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Martínez Herráez, Carolina (Universitat de Barcelona. Departament de Bioquímica i Fisiologia) ;
Bech-Serra, Joan-Josep (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Fellner, Michaela (Research Institute of Molecular Pathology (IMP). Vienna BioCenter (VBC)) ;
Rathert, Philipp (University Stuttgart) ;
Brooks, Nigel (CellCentric. Ltd. Chesterford Research Park) ;
Zamora, Lurdes (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Gentilella, Antonio (Universitat de Barcelona. Departament de Bioquímica i Fisiologia) ;
De La Torre Gómez, Gisela Carolina (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Zuber, Johannes (Medical University of Vienna. Vienna BioCenter (VBC)) ;
Götze, Katharina S. (Technische Universität München) ;
Buschbeck, Marcus (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
The nucleotide analogue azacitidine (AZA) is currently the best treatment option for patients with high-risk myelodysplastic syndromes (MDS). However, only half of treated patients respond and of these almost all eventually relapse. [...]
2021 - 10.1038/s41467-021-26258-z
Nature communications, Vol. 12 Núm. 1 (january 2021) , p. 6060
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14 p, 1.2 MB |
Finding genetically-supported drug targets for Parkinson's disease using Mendelian randomization of the druggable genome
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Storm, Catherine S. (University College London) ;
Kia, Demis A. (University College London) ;
Almramhi, Mona M. (King Abdulaziz University) ;
Bandres-Ciga, Sara (National Institute on Aging (Estats Units d'Amèrica)) ;
Finan, Chris (University Medical Center Utrecht) ;
Noyce, A. J. (UCL Institute of Neurology (Regne Unit)) ;
Kaiyrzhanov, R. (UCL Institute of Neurology (Regne Unit)) ;
Middlehurst, B. (University of Liverpool) ;
Tan, M. (University College London) ;
Houlden, Henry (UCL Institute of Neurology (Regne Unit)) ;
Morris, H. R. (University College London) ;
Plun-Favreau, H. (UCL Institute of Neurology (Regne Unit)) ;
Holmans, Peter (MRC Centre for Neuropsychiatric Genetics & Genomics) ;
Hardy, J. (UCL Institute of Neurology (Regne Unit)) ;
Trabzuni, D. (UCL Institute of Neurology (Regne Unit)) ;
Quinn, J. (Institute of Translational Medicine. University of Liverpool) ;
Bubb, Vivien (Institute of Translational Medicine. University of Liverpool) ;
Mok, K. Y. (UCL Institute of Neurology (Regne Unit)) ;
Kinghorn, K. J. (University College London) ;
Lewis, P. (University of Reading) ;
Schreglmann, S. R. (UCL Institute of Neurology (Regne Unit)) ;
Lovering, R. (University College London) ;
R'Bibo, L. (UCL Institute of Neurology (Regne Unit)) ;
Manzoni, C. (University of Reading) ;
Rizig, M. (UCL Institute of Neurology (Regne Unit)) ;
Ryten, Mina (UCL Institute of Neurology (Regne Unit)) ;
Guelfi, S. (UCL Institute of Neurology (Regne Unit)) ;
Escott-Price, Valentina (MRC Centre for Neuropsychiatric Genetics and Genomics. Cardiff University School of Medicine) ;
Chelban, Viorica (UCL Institute of Neurology (Regne Unit)) ;
Foltynie, T. (UCL Institute of Neurology (Regne Unit)) ;
Williams, N. (MRC Centre for Neuropsychiatric Genetics and Genomics) ;
Morrison, K. E. (Faculty of Medicine. University of Southampton) ;
Clarke, C. (Sandwell and West Birmingham Hospitals NHS Trust) ;
Harvey, K. (UCL School of Pharmacy) ;
Jacobs, B. M. (Wolfson Institute of Preventive Medicine. QMUL) ;
Brice, Alexis (Sorbonne Université) ;
Danjou, Fabrice (Sorbonne Université) ;
Lesage, S. (Sorbonne Universités) ;
Corvol, Jean-Christophe (Sorbonne Universités) ;
Martinez, M. (Paul Sabatier University) ;
Schulte, C. (DZNE. German Center for Neurodegenerative Diseases) ;
Brockmann, Kathrin (DZNE. German Center for Neurodegenerative Diseases) ;
Simón-Sánchez, J. (DZNE. German Center for Neurodegenerative Diseases) ;
Heutink, Peter (University of Tübingen) ;
Rizzu, P. (DZNE. German Center for Neurodegenerative Diseases) ;
Sharma, M. (University of Tubingen) ;
Gasser, T. (DZNE. German Center for Neurodegenerative Diseases) ;
Schneider, S. A. (udwig-Maximilians-University Munich) ;
Cookson, Mark R (Laboratory of Neurogenetics. National Institute on Aging) ;
Blauwendraat, Cornelis (Laboratory of Neurogenetics. National Institute on Aging) ;
Craig, David W (University of Southern California) ;
Billingsley, K. (National Institute on Aging (Estats Units d'Amèrica)) ;
Makarious, M. B. (National Institute on Aging (Estats Units d'Amèrica)) ;
Narendra, D. P. (National Institute of Neurological Disorders and Stroke) ;
Faghri, F. (University of Illinois at Urbana-Champaign) ;
Gibbs, J. R. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ;
Hernandez, D. G. (National Institute on Aging (Estats Units d'Amèrica)) ;
Van Keuren-Jensen, K. (Neurogenomics Division. TGen) ;
Shulman, J. M. (Texas Children's Hospital) ;
Iwaki, H. (Laboratory of Neurogenetics. National Institute on Aging) ;
Leonard, H. L. (Laboratory of Neurogenetics. National Institute on Aging) ;
Nalls, M. A. (CEO/Consultant Data Tecnica International) ;
Robak, L. (Baylor College of Medicine) ;
Bras, Jose (Van Andel Research Institute) ;
Guerreiro, Rita (Van Andel Research Institute) ;
Lubbe, S. (Northwestern University Feinberg School of Medicine) ;
Troycoco, T. (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ;
Finkbeiner, S. (Taube/Koret Center for Neurodegenerative Disease Research) ;
Mencacci, N. E. (Northwestern University Feinberg School of Medicine) ;
Lungu, C. (National Institutes of Health Division of Clinical Research. NINDS. National Institutes of Health) ;
Singleton, A. B. (Laboratory of Neurogenetics. National Institute on Aging) ;
Scholz, S. W. (National Institute of Neurological Disorders and Stroke) ;
Reed, X. (Laboratory of Neurogenetics. National Institute on Aging) ;
Uitti, R. J. (Mayo Clinic) ;
Ross, O. A. (Mayo Clinic) ;
Grenn, F. P. (National Institute on Aging (Estats Units d'Amèrica)) ;
Moore, A. (National Institute on Aging (Estats Units d'Amèrica)) ;
Alcalay, Roy N (Columbia University Medical Center) ;
Wszolek, Z. K. (Mayo Clinic) ;
Gan-Or, Z. (McGill University) ;
Rouleau, G. A. (McGill University) ;
Krohn, L. (McGill University) ;
Mufti, K. (McGill University) ;
van Hilten, J. J. (Leiden University Medical Center) ;
Marinus, J. (Leiden University Medical Center) ;
Adarmes-Gómez, A.D (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Aguilar Barberà, Miquel (Mútua de Terrassa) ;
Alvarez, Ignacio (Mútua de Terrassa) ;
Alvarez, Victoria (Hospital Universitario Central de Asturias) ;
Barrero, F. J. (Universidad de Granada) ;
Yarza, J. A. B. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Bernal-Bernal, I. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Blázquez Estrada, Marta (Hospital Universitario Central de Asturias) ;
Bonilla-Toribio, Marta (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Botía, J. A. (Universidad de Murcia) ;
Boungiorno, M. T. (Mútua de Terrassa) ;
Buiza-Rueda, Dolores (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Cámara, Ana (Hospital Clínic i Provincial de Barcelona) ;
Carrillo, F. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Carrión-Claro, M. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Cerdan, Debora (Hospital General de Segovia) ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Compta, Yaroslau (Hospital Clínic i Provincial de Barcelona) ;
Diez-Fairen, M. (Mútua de Terrassa) ;
Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ;
Duarte, Jacinto (Hospital General de Segovia) ;
Duran, Raquel (Universidad de Granada) ;
Escamilla-Sevilla, Francisco (Instituto de Investigación Sanitaria de Granada) ;
Ezquerra, Mario (Hospital Clínic i Provincial de Barcelona) ;
Feliz, Cici (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
Fernández, Manel (Hospital Clínic i Provincial de Barcelona) ;
Fernández-Santiago, Rubén (Hospital Clínic i Provincial de Barcelona) ;
Garcia, C.. (Hospital Universitario Central de Asturias) ;
García-Ruiz, Pedro (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
Gómez-Garre, P. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Gomez Heredia, Maria Jose (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ;
Gonzalez-Aramburu, Isabel (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ;
Pagola, A. G. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Hoenicka, Janet (Institut de Recerca Sant Joan de Déu) ;
Infante, Jon (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Jesús, S. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Jiménez-Escrig, Adriano (Hospital Universitario Ramón y Cajal (Madrid)) ;
Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ;
Labrador-Espinosa, Miguel A (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Lopez-Sendon, Jose Luis (Hospital Universitario Ramón y Cajal (Madrid)) ;
de Munain Arregui, A. L. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Macías-García, Daniel (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Torres, I. M. (Hospital Universitari i Politècnic La Fe (València)) ;
Marín, Juan (Institut d'Investigació Biomèdica Sant Pau) ;
Marti, Maria Jose (Hospital Clínic i Provincial de Barcelona) ;
Martínez-Castrillo, Juan Carlos (Instituto Ramón y Cajal de Investigación Sanitaria (Madrid)) ;
Méndez-del-Barrio, C. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
González, M. M. (Hospital Universitario Central de Asturias) ;
Mata, Marina (Hospital Universitario Virgen de las Nieves (Granada)) ;
Mínguez, A. (Hospital Universitario Virgen de las Nieves (Granada)) ;
Mir, P. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Rezola, E. M. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Muñoz, Esteban (Hospital Clínic i Provincial de Barcelona) ;
Pagonabarraga Mora, Javier (Hospital Universitario Infanta Sofía (San Sebastián de los Reyes)) ;
Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Perez-Errazquin, Francisco (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ;
Periñán-Tocino, T. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Ruiz-Martínez, J. (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Ruz, Clara (Universidad de Granada) ;
Rodriguez, A. S. (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ;
Sierra, Maria (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ;
Suarez-Sanmartin, E. (Hospital Universitario Central de Asturias) ;
Tabernero, Cesar (Hospital General de Segovia) ;
Tartari, J. P. (Mútua de Terrassa) ;
Tejera-Parrado, C. (v) ;
Tolosa, Eduard (Hospital Clínic i Provincial de Barcelona) ;
Valldeoriola, Francesc (Hospital Clínic i Provincial de Barcelona) ;
Vargas-González, L. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Vela, Lydia (Hospital Universitario Fundación Alcorcón) ;
Vives, Francisco (Universidad de Granada) ;
Zimprich, Alexander (Medical University of Vienna) ;
Pihlstrom, L. (Oslo University Hospital (Oslo)) ;
Toft, M. (Oslo University Hospital (Oslo, Noruega)) ;
Taba, P. (University of Tartu) ;
Koks, S. (The Perron Institute for Neurological and Translational Science) ;
Hassin-Baer, S. (Sackler Faculty of Medicine. Tel Aviv University) ;
Majamaa, K. (Oulu University Hospital (Finlàndia)) ;
Siitonen, A. (Oulu University Hospital (Finlàndia)) ;
Tienari, P. (Helsinki University Hospital (Finlàndia)) ;
Okubadejo, N. U. (University of Lagos) ;
Ojo, O. O. (University of Lagos) ;
Shashkin, C. (Kazakh National Medical University named after Asfendiyarov) ;
Zharkinbekova, N. (South Kazakhstan Medical Academy) ;
Akhmetzhanov, Vadim (Astana Medical University) ;
Kaishybayeva, G. (Scientific and Practical Center "Institute of Neurology named after Smagul Kaishibayev") ;
Karimova, A. (Scientific and Practical Center "Institute of Neurology named after Smagul Kaishibayev") ;
Khaibullin, T. (Semey Medical University) ;
Lynch, T. L. (The Dublin Neurological Institute at the Mater Misericordiae University Hospital) ;
Hingorani, Aroon (Health Data Research UK) ;
Wood, Nicholas W.. (University College London) ;
Universitat Autònoma de Barcelona
Parkinson's disease is a neurodegenerative movement disorder that currently has no disease-modifying treatment, partly owing to inefficiencies in drug target identification and validation. We use Mendelian randomization to investigate over 3,000 genes that encode druggable proteins and predict their efficacy as drug targets for Parkinson's disease. [...]
2021 - 10.1038/s41467-021-26280-1
Nature communications, Vol. 12 Núm. 1 (december 2021) , p. 7342
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