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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 W. (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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19 p, 2.5 MB |
Defective HNF4alpha-dependent gene expression as a driver of hepatocellular failure in alcoholic hepatitis
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Argemi, Josepmaria (Universidad de Navarra) ;
Latasa, M. U. (Hepatology Program. Center for Applied Medical Research (CIMA). University of Navarra) ;
Atkinson, Stephen R (Imperial College London) ;
Blokhin, I. O. (CUniversity of Miami Miller School of Medicine) ;
Massey, V. (University of North Carolina at Chapel Hill) ;
Gue, J. P. (University of Pittsburgh Medical Center) ;
Cabezas González, Joaquín (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Lozano, Juan José (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Van Booven, D. (University of Miami) ;
Bell, Aaron (University of Pittsburgh School of Medicine) ;
Cao, S. (Mayo Clinic) ;
Vernetti, L. A. (University of Pittsburgh) ;
Arab, J. P. (Pontificia Universidad Católica de Chile) ;
Ventura-Cots, Meritxell (University of Pittsburgh Medical Center) ;
Edmunds, L. R. (University of Pittsburgh) ;
Fondevilla, C. (Hospital Clínic i Provincial de Barcelona) ;
Stärkel, P. (Université Catholique de Louvain) ;
Dubuquoy, L. (University of Lille) ;
Louvet, Alexandre (University of Lille) ;
Òdena Garcia, Gemma (University of North Carolina at Chapel Hill) ;
Gomez, J. L. (University of Pittsburgh School of Medicine) ;
Aragon, T. (Universidad de Navarra) ;
Altamirano, José (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Caballería, J (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Jurczak, M. J. (University of Pittsburgh) ;
Taylor, D. L. (University of Pittsburgh) ;
Berasain, Carmen (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ;
Wahlestedt, C. (University of Miami Miller School of Medicine) ;
Monga, S. P. (University of Pittsburgh School of Medicine) ;
Morgan, M. Y. (University College London) ;
Sancho-Bru, P. (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Mathurin, Philippe (University of Lille) ;
Furuya, S. (Texas A&M University) ;
Lackner, C. (Medical University of Graz) ;
Rusyn, I. (Texas A&M University) ;
Shah, V. H. (Mayo Clinic) ;
Thursz, M. R. (Imperial College London) ;
Mann, J. (Newcastle University) ;
Avila, Matias A (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ;
Bataller, Ramon (University of North Carolina at Chapel Hill) ;
Universitat Autònoma de Barcelona
Alcoholic hepatitis (AH) is a life-threatening condition characterized by profound hepatocellular dysfunction for which targeted treatments are urgently needed. Identification of molecular drivers is hampered by the lack of suitable animal models. [...]
2019 - 10.1038/s41467-019-11004-3
Nature communications, Vol. 10 Núm. 1 (january 2019) , p. 3126
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11 p, 2.1 MB |
A novel unstable duplication upstream of HAS2 predisposes to a breed-defining skin phenotype and a periodic fever syndrome in Chinese Shar-Pei dogs
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Olsson, Mia (Uppsala University. Department of Medical Biochemistry and Microbiology) ;
Meadows, Jennifer R. S. (Uppsala University. Department of Medical Biochemistry and Microbiology) ;
Truvé, Katarina (Swedish University of Agricultural Sciences. Department of Animal Breeding and Genetics) ;
Rosengren Pielberg, Gerli (Uppsala University. Department of Medical Biochemistry and Microbiology) ;
Puppo, Francesca (National Human Genome Research Institute (Bethesda, Estats Units d'Amèrica)) ;
Mauceli, Evan (Massachusetts Institute of Technology (Cambridge, Estats Units d'Amèrica)) ;
Quílez Oliete, Javier (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments) ;
Tonomura, Noriko (Massachusetts Institute of Technology (Cambridge, Estats Units d'Amèrica)) ;
Zanna, Giordana (Universitat Autònoma de Barcelona. Departament de Medicina i Cirurgia Animals) ;
Docampo, María José (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ;
Bassols Teixidó, Anna Maria (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ;
Avery, Anne C. (Colorado State University. Department of Microbiology, Immunology, and Pathology) ;
Thomas, Anne (ANTAGENE Laboratory (França)) ;
Kastner, Daniel L. (National Human Genome Research Institute (Bethesda, Estats Units d'Amèrica)) ;
Bongcam-Rudloff, Erik (Uppsala University. Linnaeus Centre for Bioinformatics) ;
Webster, Matthew T. (Uppsala University. Department of Medical Biochemistry and Microbiology (Uppsala, Suècia)) ;
Sánchez Bonastre, Armando (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments) ;
Hedhammar, Åke (Swedish University of Agricultural Sciences) ;
Remmers, Elaine F. (National Human Genome Research Institute (Bethesda, Estats Units d'Amèrica)) ;
Andersson, Leif (Uppsala University. Department of Medical Biochemistry and Microbiology (Uppsala, Suècia)) ;
Ferrer i Caubet, Lluís (Universitat Autònoma de Barcelona. Departament de Medicina i Cirurgia Animals) ;
Tintle, Linda (Wurtsboro Veterinary Clinic (Nova York, Estats Units d'Amèrica)) ;
Lindblad-Toh, Kerstin (Uppsala University. Department of Medical Biochemistry and Microbiology (Uppsala, Suècia))
Hereditary periodic fever syndromes are characterized by recurrent episodes of fever and inflammation with no known pathogenic or autoimmune cause. In humans, several genes have been implicated in this group of diseases, but the majority of cases remain unexplained. [...]
2011 - 10.1371/journal.pgen.1001332
PLoS Genetics, Vol. 7, Issue 3 (March 2011) , p. e1001332
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