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Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

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Acta neuropathologica 2020年第5期139卷 959-962页

作者： Sven J van der Lee Olivia J Conway Iris Jansen Minerva M Carrasquillo Luca Kleineidam Erik van den Akker Isabel Hernández Kristel R van Eijk Najada Stringa Jason A Chen Anna Zettergren Till F M Andlauer Monica Diez-Fairen Javier Simon-Sanchez Alberto Lleó Henrik Zetterberg Marianne Nygaard Cornelis Blauwendraat Jeanne E Savage Jonas Mengel-From Sonia Moreno-Grau Michael Wagner Juan Fortea Michael J Keogh Kaj Blennow Ingmar Skoog Manuel A Friese Olga Pletnikova Miren Zulaica Carmen Lage Itziar de Rojas Steffi Riedel-Heller Ignacio Illán-Gala Wei Wei Bernard Jeune Adelina Orellana Florian Then Bergh Xue Wang Marc Hulsman Nina Beker Niccolo Tesi Christopher M Morris Begoña Indakoetxea Lyduine E Collij Martin Scherer Estrella Morenas-Rodríguez James W Ironside Bart N M van Berckel Daniel Alcolea Heinz Wiendl Samantha L Strickland Pau Pastor Eloy Rodríguez Rodríguez Bradley F Boeve Ronald C Petersen Tanis J Ferman Jay A van Gerpen Marcel J T Reinders Ryan J Uitti Lluís Tárraga Wolfgang Maier Oriol Dols-Icardo Amit Kawalia Maria Carolina Dalmasso Mercè Boada Uwe K Zettl Natasja M van Schoor Marian Beekman Mariet Allen Eliezer Masliah Adolfo López de Munain Alexander Pantelyat Zbigniew K Wszolek Owen A Ross Dennis W Dickson Neill R Graff-Radford David Knopman Rosa Rademakers Afina W Lemstra Yolande A L Pijnenburg Philip Scheltens Thomas Gasser Patrick F Chinnery Bernhard Hemmer Martijn A Huisman Juan Troncoso Fermin Moreno Ellen A Nohr Thorkild I A Sørensen Peter Heutink Pascual Sánchez-Juan Danielle Posthuma Jordi Clarimón Kaare Christensen Nilüfer Ertekin-Taner Sonja W Scholz Alfredo Ramirez Agustín Ruiz Eline Slagboom Wiesje M van der Flier Henne Holstege Alzheimer Center Amsterdam Department of Neurology Amsterdam Neuroscience Vrije Universiteit Amsterdam Amsterdam UMC Amsterdam The Netherlands. s.j.vanderlee@amsterdamumc.nl. Department of Clinical Genetics Vrije Universiteit Amsterdam Amsterdam UMC Amsterdam The Netherlands. s.j.vanderlee@amsterdamumc.nl. Department of Neuroscience Mayo Clinic Florida Jacksonville FL 32224 USA. Alzheimer Center Amsterdam Department of Neurology Amsterdam Neuroscience Vrije Universiteit Amsterdam Amsterdam UMC Amsterdam The Netherlands. Department of Complex Trait Genetics Center for Neurogenomics and Cognitive Research Amsterdam Neuroscience Vrije Universiteit Amsterdam Amsterdam UMC Amsterdam The Netherlands. Department for Neurodegenerative Diseases and Geriatric Psychiatry University of Bonn Bonn Germany. DZNE German Center for Neurodegenerative Diseases Bonn Germany. Division of Neurogenetics and Molecular Psychiatry Department of Psychiatry and Psychotherapy Faculty of Medicine University Hospital Cologne Cologne Germany. Molecular Epidemiology Leiden University Medical Center Leiden The Netherlands. Pattern Recognition and Bioinformatics Delft University of Technology Delft The Netherlands. Research Center and Memory Clinic Fundació ACE Institut Català de Neurociències Aplicades Universitat Internacional de Catalunya Barcelona Spain. Centro de Investigacion Biomedica en Red en Enfermedades Neurodegenerativas (CIBERNED) Madrid Spain. Department of Neurology Brain Center Rudolf Magnus University Medical Center Utrecht Utrecht The Netherlands. Amsterdam UMC-Vrije Universiteit Amsterdam Department of Epidemiology and Biostatistics Amsterdam Public Health Research Institute Amsterdam The Netherlands. Interdepartmental Program in Bioinformatics University of California Los Angeles USA. Neuropsychiatric Epidemiology Unit Department of Psychiatry and Neurochemistry Institute of Neuroscience and Physiology Sahlgrenska Academy Centre for Ageing and Health (AgeCap) at

The IPDGC (The International Parkinson Disease Genomics Consortium) and EADB (Alzheimer Disease European DNA biobank) are listed correctly as an author to the article, however, they were incorrectly listed more than o...

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Author Correction: Tumour-selective activity of RAS-GTP inhibition in pancreatic cancer

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Nature 2024年第8040期635卷 E12页

作者： Urszula N Wasko Jingjing Jiang Tanner C Dalton Alvaro Curiel-Garcia A Cole Edwards Yingyun Wang Bianca Lee Margo Orlen Sha Tian Clint A Stalnecker Kristina Drizyte-Miller Marie Menard Julien Dilly Stephen A Sastra Carmine F Palermo Marie C Hasselluhn Amanda R Decker-Farrell Stephanie Chang Lingyan Jiang Xing Wei Yu C Yang Ciara Helland Haley Courtney Yevgeniy Gindin Karl Muonio Ruiping Zhao Samantha B Kemp Cynthia Clendenin Rina Sor William P Vostrejs Priya S Hibshman Amber M Amparo Connor Hennessey Matthew G Rees Melissa M Ronan Jennifer A Roth Jens Brodbeck Lorenzo Tomassoni Basil Bakir Nicholas D Socci Laura E Herring Natalie K Barker Junning Wang James M Cleary Brian M Wolpin John A Chabot Michael D Kluger Gulam A Manji Kenneth Y Tsai Miroslav Sekulic Stephen M Lagana Andrea Califano Elsa Quintana Zhengping Wang Jacqueline A M Smith Matthew Holderfield David Wildes Scott W Lowe Michael A Badgley Andrew J Aguirre Robert H Vonderheide Ben Z Stanger Timour Baslan Channing J Der Mallika Singh Kenneth P Olive Department of Medicine Vagelos College of Physicians and Surgeons Columbia University Irving Medical Center New York NY USA. Herbert Irving Comprehensive Cancer Center Columbia University Irving Medical Center New York NY USA. Revolution Medicines Redwood City CA USA. Department of Cell Biology and Physiology University of North Carolina at Chapel Hill Chapel Hill NC USA. University of Pennsylvania Perelman School of Medicine Department of Medicine Philadelphia PA USA. Cancer Biology and Genetics Program Sloan Kettering Institute Memorial Sloan Kettering Cancer Center New York NY USA. Lineberger Comprehensive Cancer Center University of North Carolina at Chapel Hill Chapel Hill NC USA. Department of Pharmacology University of North Carolina at Chapel Hill Chapel Hill NC USA. Department of Medical Oncology Dana-Farber Cancer Institute Boston MA USA. Harvard Medical School Boston MA USA. University of Pennsylvania Perelman School of Medicine Abramson Cancer Center Philadelphia PA USA. The Broad Institute of Harvard and MIT Cambridge MA USA. Department of Systems Biology Columbia University Irving Medical Center New York NY USA. Bioinformatics Core Memorial Sloan Kettering Cancer Center New York NY USA. UNC Michael Hooker Proteomics Center University of North Carolina at Chapel Hill Chapel Hill NC USA. Department of Surgery Vagelos College of Physicians and Surgeons Columbia University Irving Medical Center New York NY USA. Department of Pathology H. Lee Moffitt Cancer Center and Research Institute Tampa FL USA. Department of Tumor Microenvironment and Metastasis H. Lee Moffitt Cancer Center and Research Institute Tampa FL USA. Department of Pathology and Cell Biology Columbia University Irving Medical Center New York NY USA. Department of Oncology The Johns Hopkins University School of Medicine Baltimore MD USA. J. P. Sulzberger Columbia Genome Center Columbia University New York NY USA. Department of Biochemistry and Molecular Biop

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FANTOM5 CAGE profiles of human and mouse samples

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Scientific Data 2017年第1期4卷 1-10页

作者： Noguchi, Shuhei Arakawa, Takahiro Fukuda, Shiro Furuno, Masaaki Hasegawa, Akira Hori, Fumi Ishikawa-Kato, Sachi Kaida, Kaoru Kaiho, Ai Kanamori-Katayama, Mutsumi Kawashima, Tsugumi Kojima, Miki Kubosaki, Atsutaka Manabe, Ri-Ichiroh Murata, Mitsuyoshi Nagao-Sato, Sayaka Nakazato, Kenichi Ninomiya, Noriko Nishiyori-Sueki, Hiromi Noma, Shohei Saijyo, Eri Saka, Akiko Sakai, Mizuho Simon, Christophe Suzuki, Naoko Tagami, Michihira Watanabe, Shoko Yoshida, Shigehiro Arner, Peter Axton, Richard A. Babina, Magda Kenneth Baillie, J. Barnett, Timothy C. Beckhouse, Anthony G. Blumenthal, Antje Bodega, Beatrice Bonetti, Alessandro Briggs, James Brombacher, Frank Carlisle, Ailsa J. Clevers, Hans C. Davis, Carrie A. Detmar, Michael Dohi, Taeko Edge, B. Albert S. Edinger, Matthias Ehrlund, Anna Ekwall, Karl Endoh, Mitsuhiro Enomoto, Hideki Eslami, Afsaneh Fagiolini, Michela Fairbairn, Lynsey Farach-Carson, Mary C. Faulkner, Geoffrey J. Ferrai, Carmelo Fisher, Malcolm E. Forrester, Lesley M. Fujita, Rie Furusawa, Jun-Ichi Geijtenbeek, Teunis B. Gingeras, Thomas Goldowitz, Daniel Guhl, Sven Guler, Reto Gustincich, Stefano Ha, Thomas J. Hamaguchi, Masahide Hara, Mitsuko Hasegawa, Yuki Herlyn, Meenhard Heutink, Peter Hitchens, Kelly J. Hume, David A. Ikawa, Tomokatsu Ishizu, Yuri Kai, Chieko Kawamoto, Hiroshi Kawamura, Yuki I. Kempfle, Judith S. Kenna, Tony J. Kere, Juha Khachigian, Levon M. Kitamura, Toshio Klein, Sarah Peter Klinken, S. Knox, Alan J. Kojima, Soichi Koseki, Haruhiko Koyasu, Shigeo Lee, Weonju Lennartsson, Andreas MacKay-Sim, Alan Mejhert, Niklas Mizuno, Yosuke Morikawa, Hiromasa Morimoto, Mitsuru Moro, Kazuyo Morris, Kelly J. Motohashi, Hozumi Mummery, Christine L. Nakachi, Yutaka Nakahara, Fumio Nakamura, Toshiyuki Nakamura, Yukio Nozaki, Tadasuke Ogishima, Soichi Ohkura, Naganari Ohno, Hiroshi Ohshima, Mitsuhiro Okada-Hatakeyama, Mariko Okazaki, Yasushi Orlando, Valerio Ovchinnikov, Dmitry A. Passier, Robert Patrikakis, Margaret Pombo, Ana Pradhan-Bhatt, Swati Qin, Xian-Yang Rehli, Michael Rizzu, Patrizia Roy, S Division of Genomic Technologies RIKEN Center for Life Science Technologies Yokohama Kanagawa 230-0045 Japan RIKEN Omics Science Center Yokohama Kanagawa 230-0045 Japan Department of Medicine Karolinska Institutet Stockholm 14186 Sweden Karolinska University Hospital Center for Metabolism and Endocrinology Stockholm 14186 Sweden Scottish Centre for Regenerative Medicine University of Edinburgh 5 Little France Drive Edinburgh EH164UU United Kingdom Department of Dermatology and Allergy Charite University Medicine Berlin Charitéplatz 1 Berlin 10117 Germany Roslin Institute and Royal School of Veterinary Studies University of Edinburgh Edinburgh EH259RG United Kingdom Australian Infectious Diseases Research Centre University of Queensland St Lucia 4072 QLD Australia School of Chemistry and Molecular Biosciences University of Queensland St Lucia 4072 QLD Australia Bio-Rad Laboratories Pty Ltd Hercules 94547 CA United States University of Queensland Diamantina Institute University of Queensland Woolloongabba 4102 QLD Australia IRCCS Fondazione Santa Lucia Via del Fosso di Fiorano 64 Rome 00143 Italy Australian Institute for Bioengineering and Nanotechnology University of Queensland Brisbane St Lucia 4072 QLD Australia Division of Immunology Institute of Infectious Diseases and Molecular Medicine University of Cape Town Anzio Road Observatory 7925 South Africa Immunology of Infectious Diseases Faculty of Health Sciences South African Medical Research Council University of Cape Town Anzio Road 7925 South Africa International Centre for Genetic Engineering and Biotechnology Cape Town Component Anzio Road 7925 South Africa Hubrecht Institute Royal Netherlands Academy of Arts and Sciences Uppsalalaan 8 3584 Netherlands University Medical Centre Utrecht Postbus 85500 Utrecht 3508 Netherlands Genomics Cold Spring Harbor Laboratory Cold Spring Harbor New York 11797 NY United States Institute of Pharmaceutical Sciences ETH Zurich Vladi

In the FANTOM5 project, transcription initiation events across the human and mouse genomes were mapped at a single base-pair resolution and their frequencies were monitored by CAGE (Cap Analysis of Gene Expression) coupled with single-molecule sequencing. Approximately three thousands of samples, consisting of a variety of primary cells, tissues, cell lines, and time series samples during cell activation and development, were subjected to a uniform pipeline of CAGE data production. The analysis pipeline started by measuring RNA extracts to assess their quality, and continued to CAGE library production by using a robotic or a manual workflow, single molecule sequencing, and computational processing to generate frequencies of transcription initiation. Resulting data represents the consequence of transcriptional regulation in each analyzed state of mammalian cells. Non-overlapping peaks over the CAGE profiles, approximately 200,000 and 150,000 peaks for the human and mouse genomes, were identified and annotated to provide precise location of known promoters as well as novel ones, and to quantify their activities.

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Reference Data Based Insights Expand Understanding of Human Metabolomes

SSRN

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SSRN 2020年

作者： Gauglitz, Julia M. Bittremieux, Wout Williams, Candace L. Weldon, Kelly C. Panitchpakdi, Morgan Di Ottavio, Francesca Aceves, Christine M. Brown, Elizabeth Sikora, Nicole C. Jarmusch, Alan K. Martino, Cameron Tripathi, Anupriya Sayyari, Erfan Shaffer, Justin P. Coras, Roxana Vargas, Fernando DeRight Goldasich, Lindsay Schwartz, Tara Bryant, MacKenzie Humphrey, Gregory Johnson, Abigail J. Spengler, Katharina Belda-Ferre, Pedro Diaz, Edgar McDonald, Daniel Zhu, Qiyun Nguyen, Dominic S. Elijah, Emmanuel O. Wang, Mingxun Marotz, Clarisse Sprecher, Kate E. Robles, Daniela Vargas Withrow, Dana Ackermann, Gail Herrera, Lourdes Bradford, Barry J. Marques, Lucas Maciel Mauriz Amaral, Juliano Geraldo Silva, Rodrigo Moreira Veras, Flávio Protaso Cunha, Thiago Mattar Oliveira, Rene Donizeti Ribeiro Louzada-Junior, Paulo Mills, Robert H. Galasko, Douglas Dulai, Parambir S. Wittenberg, Curt Gonzalez, David J. Terkeltaub, Robert Doty, Megan M. Kim, Jae H. Rhee, Kyung E. Beauchamp-Walters, Julia Wright, Kenneth P. Dominguez-Bello, Maria Gloria Manary, Mark Oliveira, Michelli F. Boland, Brigid S. Lopes, Norberto Peporine Guma, Monica Swafford, Austin D. Dutton, Rachel J. Knight, Rob Dorrestein, Pieter C. Collaborative Mass Spectrometry Innovation Center University of California San Diego San DiegoCA92093 United States Skaggs School of Pharmacy and Pharmaceutical Sciences University of California San Diego San DiegoCA92093 United States Department of Computer Science University of Antwerp Antwerpen2020 Belgium Reproductive Sciences Institute for Conservation Research San Diego Zoo Global EscondidoCA92027 United States Center for Microbiome Innovation Joan and Irwin Jacobs School of Engineering University of California San Diego San DiegoCA92093 United States Division of Biological Sciences University of California San Diego San DiegoCA92093 United States Department of Pediatrics School of Medicine University of California San Diego San DiegoCA92093 United States Bioinformatics and Systems Biology Program University of California San Diego San DiegoCA92093 United States Division of Rheumatology Allergy & Immunology Department of Medicine University of California San Diego San DiegoCA92093 United States BioTechnology Institute University of Minnesota Saint PaulMN55108 United States Department of Integrative Physiology University of Colorado Boulder BoulderCO80309 United States Department of Population Health Sciences University of Wisconsin-Madison MadisonWI53726 United States Servicio Autónomo Centro Amazónico de Investigación y Control de Enfermedades Tropicales Simón Bolívar Amazonas Puerto Ayacucho7101 Venezuela Department of Pediatrics Wake Forest School of Medicine Winston-SalemNC27101 United States Department of Animal Science Michigan State University East LansingMI48824 United States Department of Pharmacology School of Medicine of Ribeirao Preto Center of Research in Inflammatory Diseases University of Sao Paulo SP Ribeirao PretoCEP 14049-900 - Brazil Multidisciplinary Health Institute Federal University of Bahia BA Vitória da Conquista45029094 Brazil NPPNS Department of Biomolecular Sciences School of Pharmaceutica

The human metabolome has remained largely unknown, with most studies annotating ~10% of features. In nucleic acid sequencing, annotating transcripts by source has proven essential for understanding gene function. Here we generalize this concept to stool, plasma, urine and other human metabolomes, discovering that food-based annotations increase the interpreted fraction of molecular features 7-fold, providing a general framework for expanding the interpretability of human metabolomic "dark matter." © 2020, The Authors. All rights reserved.

关键词： Nucleic acids

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Author Correction: c-Met activation leads to the establishment of a TGFβ-receptor regulatory network in bladder cancer progression

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Nature communications 2019年第1期10卷 5148页

作者： Wen Jing Sim Prasanna Vasudevan Iyengar Dilraj Lama Sarah Kit Leng Lui Hsien Chun Ng Lior Haviv-Shapira Eytan Domany Dennis Kappei Tuan Zea Tan Azad Saei Patrick William Jaynes Chandra Shekhar Verma Alan Prem Kumar Mathieu Rouanne Hong Koo Ha Camelia Radulescu Peter Ten Dijke Pieter Johan Adam Eichhorn Jean Paul Thiery Institute of Molecular and Cell Biology A*STAR Singapore 138672 Singapore. Cancer Science Institute of Singapore National University of Singapore Singapore 117599 Singapore. Department of Cell and Chemical Biology and Oncode Institute Leiden University Medical Center 2333 ZC Leiden The Netherlands. Bioinformatics Institute (A*STAR) 30 Biopolis Street 07-01 Matrix Singapore 138671 Singapore. Department of Physics of Complex Systems The Weizmann Institute of Science Rehovot Israel. Department of Biochemistry Yong Loo Lin School of Medicine National University of Singapore Singapore 117596 Singapore. Genome Institute of Singapore A*STAR Singapore 138672 Singapore. Department of Biological Sciences National University of Singapore 14 Science Drive Singapore 117543 Singapore. School of Biological Sciences Nanyang Technological University 60 Nanyang Drive Singapore 637551 Singapore. Department of Pharmacology Yong Loo Lin School of Medicine National University of Singapore Singapore 117597 Singapore. Cancer Program Medical Science Cluster Yong Loo Lin School of Medicine National University of Singapore Singapore Singapore. Curtin Medical School Faculty of Health Sciences Curtin University Perth WA Australia. Department of Urology Hôpital Foch Université Versailles-Saint-Quentin-en-Yvelines Université Paris-Saclay Suresnes France. INSERM Unit 1015 Laboratoire de Recherche Translationnelle en Immunologie (LRTI) Gustave Roussy Université Paris-Saclay Villejuif France. Department of Urology Pusan National University Hospital Pusan National University School of Medicine Busan 602-739 Korea. Department of Pathology Hôpital Foch Université Versailles-Saint-Quentin-en-Yvelines Université Paris-Saclay Suresnes France. Cancer Science Institute of Singapore National University of Singapore Singapore 117599 Singapore. Pieter.Eichhorn@curtin.edu.au. Department of Pharmacology Yong Loo Lin School of Medicine National University of Singapore Singapore 1

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (vol 50, pg 1412, 2018)

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NATURE GENETICS 2018年第12期50卷 1755-1755页

作者： Evangelou, Evangelos Warren, Helen R. Mosen-Ansorena, David Mifsud, Borbala Pazoki, Raha Gao, He Ntritsos, Georgios Dimou, Niki Cabrera, Claudia P. Karaman, Ibrahim Fu Liang Ng Evangelou, Marina Witkowska, Katarzyna Tzanis, Evan Hellwege, Jacklyn N. Giri, Ayush Edwards, Digna R. Velez Sun, Yan V. Cho, Kelly Gaziano, J. Michael Wilson, Peter W. F. Tsao, Philip S. Kovesdy, Csaba P. Esko, Tonu Magi, Reedik Milani, Lili Almgren, Peter Boutin, Thibaud Debette, Stephanie Ding, Jun Giulianini, Franco Holliday, Elizabeth G. Jackson, Anne U. Li-Gao, Ruifang Lin, Wei-Yu Luan, Jian'an Mangino, Massimo Oldmeadow, Christopher Prins, Bram Peter Qian, Yong Sargurupremraj, Muralidharan Shah, Nabi Surendran, Praveen Theriault, Sebastien Verweij, Niek Willems, Sara M. Zhao, Jing-Hua Amouyel, Philippe Connell, John de Mutsert, Renee Doney, Alex S. F. Farrall, Martin Menni, Cristina Morris, Andrew D. Noordam, Raymond Pare, Guillaume Poulter, Neil R. Shields, Denis C. Stanton, Alice Thom, Simon Abecasis, Goncalo Amin, Najaf Arking, Dan E. Ayers, Kristin L. Barbieri, Caterina M. Batini, Chiara Bis, Joshua C. Blake, Tineka Bochud, Murielle Boehnke, Michael Boerwinkle, Eric Boomsma, Dorret I. Bottinger, Erwin P. Braund, Peter S. Brumat, Marco Campbell, Archie Campbell, Harry Chakravarti, Aravinda Chambers, John C. Chauhan, Ganesh Ciullo, Marina Cocca, Massimiliano Collins, Francis Cordell, Heather J. Davies, Gail de Borst, Martin H. de Geus, Eco J. Deary, Ian J. Deelen, Joris Del Greco, Fabiola M. Demirkale, Cumhur Yusuf Dorr, Marcus Ehret, Georg B. Elosua, Roberto Enroth, Stefan Erzurumluoglu, A. Mesut Ferreira, Teresa Franberg, Mattias Franco, Oscar H. Gandin, Ilaria Gasparini, Paolo Giedraitis, Vilmantas Gieger, Christian Girotto, Giorgia Goel, Anuj Gow, Alan J. Gudnason, Vilmundur Guo, Xiuqing Gyllensten, Ulf Hamsten, Anders Harris, Tamara B. Harris, Sarah E. Hartman, Catharina A. Havulinna, Aki S. Hicks, Andrew A. Hofer, Edith Hofman, Albert Hottenga, Jouke-Jan Huffman, Jennifer E. Hwang, Shih-Jen Ingelsson, Erik James, Alan Jansen Department of Epidemiology and Biostatistics Imperial College London London UK Department of Hygiene and Epidemiology University of Ioannina Medical School Ioannina Greece William Harvey Research Institute Barts and The London School of Medicine and Dentistry Queen Mary University of London London UK National Institute for Health Research Barts Cardiovascular Biomedical Research Center Queen Mary University of London London UK MRC-PHE Centre for Environment and Health Imperial College London London UK Department of Mathematics Imperial College London London UK Division of Epidemiology Department of Medicine Institute for Medicine and Public Health Vanderbilt Genetics Institute Vanderbilt University Medical Center Tennessee Valley Healthcare System (626)/Vanderbilt University Nashville TN USA Vanderbilt Genetics Institute Vanderbilt Epidemiology Center Department of Obstetrics and Gynecology Vanderbilt University Medical Center Tennessee Valley Health Systems VA Nashville TN USA Department of Epidemiology Emory University Rollins School of Public Health Atlanta GA USA Department of Biomedical Informatics Emory University School of Medicine Atlanta GA USA Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC) VA Boston Healthcare System Boston MA USA Division of Aging Department of Medicine Brigham and Women’s Hospital Department of Medicine Harvard Medical School Boston MA USA Atlanta VAMC and Emory Clinical Cardiovascular Research Institute Atlanta GA USA VA Palo Alto Health Care System Division of Cardiovascular Medicine Stanford University School of Medicine Stanford CA USA Nephrology Section Memphis VA Medical Center and University of Tennessee Health Science Center Memphis TN USA Estonian Genome Center University of Tartu Tartu Estonia Program in Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA USA Department Clinical Sciences Malmö Lund University Malmö Sweden MRC Human Genetics Un

High blood pressure is a highly heritable and modifiable risk factor for cardiovascular disease. We report the largest genetic association study of blood pressure traits (systolic, diastolic and pulse pressure) to date in over 1 million people of European ancestry. We identify 535 novel blood pressure loci that not only offer new biological insights into blood pressure regulation but also highlight shared genetic architecture between blood pressure and lifestyle exposures. Our findings identify new biological pathways for blood pressure regulation with potential for improved cardiovascular disease prevention in the future.

关键词： Cardiovascular diseases Genome informatics Genome-wide association studies

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A structural variation reference for medical and population genetics (vol 581, pg 444, 2020)

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NATURE 2021年第7846期590卷 E55-E55页

作者： Collins, Ryan L. Brand, Harrison Karczewski, Konrad J. Zhao, Xuefang Alfoldi, Jessica Francioli, Laurent C. Khera, Amit V. Lowther, Chelsea Gauthier, Laura D. Wang, Harold Watts, Nicholas A. Solomonson, Matthew O'Donnell-Luria, Anne Baumann, Alexander Munshi, Ruchi Walker, Mark Whelan, Christopher W. Huang, Yongqing Brookings, Ted Sharpe, Ted Stone, Matthew R. Valkanas, Elise Fu, Jack Tiao, Grace Laricchia, Kristen M. Ruano-Rubio, Valentin Stevens, Christine Gupta, Namrata Cusick, Caroline Margolin, Lauren Taylor, Kent D. Lin, Henry J. Rich, Stephen S. Post, Wendy S. Chen, Yii-Der Ida Rotter, Jerome I. Nusbaum, Chad Philippakis, Anthony Lander, Eric Gabriel, Stacey Neale, Benjamin M. Kathiresan, Sekar Daly, Mark J. Banks, Eric MacArthur, Daniel G. Talkowski, Michael E. Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Division of Medical Sciences Harvard Medical School Boston MA USA Department of Neurology Massachusetts General Hospital and Harvard Medical School Boston MA USA Analytical and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Department of Medicine Harvard Medical School Boston MA USA Data Science Platform Broad Institute of MIT and Harvard Cambridge MA USA Broad Genomics Broad Institute of MIT and Harvard Cambridge MA USA European Molecular Biology Laboratory European Bioinformatics Institute Wellcome Genome Campus Hinxton Cambridge UK Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA USA Division of Genetics and Genomics Boston Children’s Hospital Boston MA USA Department of Pediatrics Harvard Medical School Boston MA USA National Heart & Lung Institute and MRC London Institute of Medical Sciences Imperial College London London UK Cardiovascular Research Centre Royal Brompton & Harefield Hospitals NHS Trust London UK Cardiac Arrhythmia Service Cardiovascular Research Center Massachusetts General Hospital Boston MA USA Estonian Genome Center Institute of Genomics University of Tartu Tartu Estonia Diabetes Unit Massachusetts General Hospital Boston MA USA Program in Metabolism Broad Institute of MIT and Harvard Cambridge MA USA Division of Cardiology Massachusetts General Hospital Boston MA USA Cardiovascular Disease Initiative Broad Institute of MIT and Harvard Cambridge MA USA Division of General Internal Medicine Massachusetts General Hospital Boston MA USA Institute for Molecular Medicine Finland (FIMM) HiLIFE University of Helsinki Helsinki Finland Department of Public Health Faculty of Medicine University

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The FAIR Guiding Principles for scientific data management and stewardship

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Scientific data 2016年第1期3卷 160018页

作者： Mark D Wilkinson Michel Dumontier I Jsbrand Jan Aalbersberg Gabrielle Appleton Myles Axton Arie Baak Niklas Blomberg Jan-Willem Boiten Luiz Bonino da Silva Santos Philip E Bourne Jildau Bouwman Anthony J Brookes Tim Clark Mercè Crosas Ingrid Dillo Olivier Dumon Scott Edmunds Chris T Evelo Richard Finkers Alejandra Gonzalez-Beltran Alasdair J G Gray Paul Groth Carole Goble Jeffrey S Grethe Jaap Heringa Peter A C 't Hoen Rob Hooft Tobias Kuhn Ruben Kok Joost Kok Scott J Lusher Maryann E Martone Albert Mons Abel L Packer Bengt Persson Philippe Rocca-Serra Marco Roos Rene van Schaik Susanna-Assunta Sansone Erik Schultes Thierry Sengstag Ted Slater George Strawn Morris A Swertz Mark Thompson Johan van der Lei Erik van Mulligen Jan Velterop Andra Waagmeester Peter Wittenburg Katherine Wolstencroft Jun Zhao Barend Mons Center for Plant Biotechnology and Genomics Universidad Politécnica de Madrid Madrid 28223 Spain. Stanford University Stanford 94305-5411 USA. Nature Genetics New York 10004-1562 USA. Euretos and Phortos Consultants Rotterdam 2741 CA The Netherlands. ELIXIR Wellcome Genome Campus Hinxton CB10 1SA UK. Lygature Eindhoven 5656 AG The Netherlands. Vrije Universiteit Amsterdam Dutch Techcenter for Life Sciences Amsterdam 1081 HV The Netherlands. Office of the Director National Institutes of Health Rockville 20892 USA. TNO Zeist 3700 AJ The Netherlands. Department of Genetics University of Leicester Leicester LE1 7RH UK. Harvard Medical School Boston Massachusetts MA 02115 USA. Harvard University Cambridge Massachusetts MA 02138 USA. Data Archiving and Networked Services (DANS) The Hague 2593 HW The Netherlands. GigaScience Beijing Genomics Institute Shenzhen 518083 China. Department of Bioinformatics Maastricht University Maastricht 6200 MD The Netherlands. Wageningen UR Plant Breeding Wageningen 6708 PB The Netherlands. Oxford e-Research Center University of Oxford Oxford OX1 3QG UK. Heriot-Watt University Edinburgh EH14 4AS UK. School of Computer Science University of Manchester Manchester M13 9PL UK. Center for Research in Biological Systems School of Medicine University of California San Diego La Jolla California 92093-0446 USA. Dutch Techcenter for the Life Sciences Utrecht 3501 DE The Netherlands. Department of Human Genetics Leiden University Medical Center Dutch Techcenter for the Life Sciences Leiden 2300 RC The Netherlands. Dutch TechCenter for Life Sciences and ELIXIR-NL Utrecht 3501 DE The Netherlands. VU University Amsterdam Amsterdam 1081 HV The Netherlands. Leiden Center of Data Science Leiden University Leiden 2300 RA The Netherlands. Netherlands eScience Center Amsterdam 1098 XG The Netherlands. National Center for Microscopy and Imaging Research UCSD San Diego 92103 USA. Phortos Consultants San Diego 92011 USA. SciELO/FAPESP Pr

There is an urgent need to improve the infrastructure supporting the reuse of scholarly data. A diverse set of stakeholders-representing academia, industry, funding agencies, and scholarly publishers-have come together to design and jointly endorse a concise and measureable set of principles that we refer to as the FAIR Data Principles. The intent is that these may act as a guideline for those wishing to enhance the reusability of their data holdings. Distinct from peer initiatives that focus on the human scholar, the FAIR Principles put specific emphasis on enhancing the ability of machines to automatically find and use the data, in addition to supporting its reuse by individuals. This Comment is the first formal publication of the FAIR Principles, and includes the rationale behind them, and some exemplar implementations in the community.

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Proceedings of the Frontiers of Retrovirology Conference 2016

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Retrovirology 2016年第1期13卷 1-40页

作者： Irena Zurnic Sylvia Hütter Nicole Stanke Tobias Kern Fabian Lindel Gesche Gerresheim Martin Hamann Erik Müllers Dirk Lindemann Ute Lehmann Juliane Reh Paul Lesbats Peter Cherepanov Melanie Mann Erik Serrao Alan Engelman Claire Da Silva Santos Kevin Tartour Andrea Cimarelli Rya Burdick Jianbo Chen Jaya Sastri Wei-Shau Hu Vinay Pathak Oliver T. Keppler Patrícia de Sousa-Pereira Hanna-Mari Baldauf Marcel Stern Karine Pradeau Sylvia Eiler Nicolas Levy Marc Ruff Sarah Lennon Sarah Cianferani Stéphane Emiliani Vincent Parissi Sylvie Rato Miguel Munoz Angela Ciuffi Antonio Rausell Amalio Telenti Alexander Zhyvoloup Ian Anderson Chen- Hsuin Lee Ariberto Fassati Anat Melamed Delphine Planas Petronela Ancuta Yuwei Zhang Huicheng Chen Annie Bernier Annie Gosselin Janos Kriston-Vizi Robin Ketteler Andy Merritt Charles Bangham Jocelyn Turpin Anthony Rodari Benoit Van Driessche Mathilde Galais Nadége Delacourt Sylvain Fauquenoy Caroline Vanhulle Anna Kula Carine Van Lint Ernst J. Wolvetang Arsène Burny Olivier Rohr Thijs van Montfort Renee van der Sluis Ben Berkhout Dave Speijer Gang Wang Na Zhao Atze T. Das Mirte Scherpenisse Bo Meng Andrzej Rutkowski Lars Dölken Andrew Lever Neil Berry Claire Ham Neil Almond Hoi Ping Mok Nicholas Norton Axel Fun Jack Hirst Mark Wills Chris Hellmund Harriet Groom Thomas Schuster Benedikt Asbach Ralf Wagner Christine Gross Martina Kalmer Andrea K. Thoma-Kress Norbert Donhauser Sebastian Millen Sandra M. Müller-Schmucker Veit Wiesmann Thomas Wittenberg Jan Gettemans Minghua Li Shan-Lu Liu Eric O. Freed Janis Müller Jan Münch Simone Joas Clement Wesley Gnanadurai Edina Lump Christina M. Stürzel Daniel Sauter Frank Kirchhoff Katharina Mack Kathrin Starz Christina Stürzel Xaver Sewald Nasim Motamedi Pradeep Uchil Ruoxi Pi Christin Herrmann Walther Mothes Mark Ladinsky Pamela Bjorkman Jagadish Beloor Priti Kumar Thomas Murooka Thorsten Mempel Michael Brehm Dale Greiner Erica Parrish Nicholas F. Parrish Beatrice H. Hahn Frederic Bibollet-Ruche Ulrike Sauermann Katharina Töpfer Tina Schultheiss Chris Molecular Virology and Gene Therapy Molecular Medicine Leuven Belgium Molecular Virology Technical University Dresden Dresden Germany Center for Regenerative Therapies Dresden Dresden Germany Potsdam University Potsdam Germany The Francis Crick Institute London Great Britain Institute of Clinical and Molecular Virology Friedrich-Alexander-Universität Erlangen-Nuremberg Erlangen Germany Dana Farber Cancer Institute Boston MA United States CIRI Lyon France National Cancer Institute Frederick MD United States Virology Max von Pettenkofer-Institut LMU Munich Munich Germany Institute of Medical Virology University of Frankfurt Frankfurt a. M. Germany German Center for Infection Research Munich Germany Institute of Medical Virology University Hospital Frankfurt Frankfurt a. M. Germany CIBIO/InBIO University of Porto Vairão Portugal Faculty of Sciences University of Porto Porto Portugal Virology Max von Pettenkofer Institute LMU Munich Germany Institute for Medical Virology Frankfurt a. M. Germany Integrative structural Biology IGBMC Illkirch France Institut Pluridisciplinaire Hubert Curien Strasbourg France Institut Cochin Paris France CNRS UMR5234 MFP Lab Bordeaux France Associated International Laboratory (LIA) Microbiology and Immunology CNRS/Université de Bordeaux/Heinrich Pette Institute-Leibniz Institute for Experimental Virology Bordeaux/Hamburg France Institute of Microbiology University Hospital Center and University of Lausanne Lausanne Switzerland Imagine Institute Paris Descartes University Paris France J. Craig Venter Institute La Jolla CA United States Infection University College London London Great Britain Medicine Imperial College London Great Britain Microbiology & Infection University of Montreal Montreal Great Britain CRCHUM Montreal Canada University College London LMCB London Great Britain MRC Technology Centre for Therapeutic Discovery London Great Britain Section of Virology Department of Medicine Imperial Co

Oral presentationsSession 1: Entry & uncoatingO1 Host cell polo-like kinases (PLKs) promote early prototype foamy virus (PFV) replicationIrena Zurnic, Sylvia Hütter, Ute Lehmann, Nicole Stanke, Juliane Re... 详细信息

Oral presentations

Session 1: Entry & uncoating

O1 Host cell polo-like kinases (PLKs) promote early prototype foamy virus (PFV) replication

Irena Zurnic, Sylvia Hütter, Ute Lehmann, Nicole Stanke, Juliane Reh, Tobias Kern, Fabian Lindel, Gesche Gerresheim, Martin Hamann, Erik Müllers, Paul Lesbats, Peter Cherepanov, Erik Serrao, Alan Engelman, Dirk Lindemann

O2 A novel entry/uncoating assay reveals the presence of at least two species of viral capsids during synchronized HIV-1 infection

Claire Da Silva Santos, Kevin Tartour, Andrea Cimarelli

O3 Dynamics of nuclear envelope association and nuclear import of HIV-1 complexes

Rya Burdick, Jianbo Chen, Jaya Sastri, Wei-Shau Hu, Vinay Pathak

O4 Human papillomavirus protein E4 potently enhances the susceptibility to HIV infection

Oliver T. Keppler

Session 2: Reverse transcription & integration

O5 Structure and function of HIV-1 integrase post translational modifications

Karine Pradeau, Sylvia Eiler, Nicolas Levy, Sarah Lennon, Sarah Cianferani, Stéphane Emiliani, Marc Ruff

O6 Regulation of retroviral integration by RNA polymerase II associated factors and chromatin structure

Vincent Parissi

Session 3: Transcription and latency

O7 A novel single-cell analysis pipeline to identify specific biomarkers of HIV permissiveness

Sylvie Rato, Antonio Rausell, Miguel Munoz, Amalio Telenti, Angela Ciuffi

O8 A capsid-dependent integration program linking T cell activation to HIV-1 gene expression

Alexander Zhyvoloup, Anat Melamed, Ian Anderson, Delphine Planas, Janos Kriston-Vizi, Robin Ketteler, Chen-Hsuin Lee, Andy Merritt, Petronela Ancuta, Charles Bangham, Ariberto Fassati

O9 Characterisation of new RNA polymerase III and RNA polymerase II transcriptional promoters in the Bovine Leukemia Virus genome

Anthony Rodari, Benoit Van Driessche, Mathilde Galais, Nadége Delacourt, Sylv

关键词： Human Immunodeficiency Virus Infection Simian Immunodeficiency Virus Feline Immunodeficiency Virus Bovine Leukemia Virus Prototype Foamy Virus

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Addendum: The FAIR Guiding Principles for scientific data management and stewardship

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Scientific data 2019年第1期6卷 6页

作者： Mark D Wilkinson Michel Dumontier Ijsbrand Jan Aalbersberg Gabrielle Appleton Myles Axton Arie Baak Niklas Blomberg Jan-Willem Boiten Luiz Bonino da Silva Santos Philip E Bourne Jildau Bouwman Anthony J Brookes Tim Clark Mercè Crosas Ingrid Dillo Olivier Dumon Scott Edmunds Chris T Evelo Richard Finkers Alejandra Gonzalez-Beltran Alasdair J G Gray Paul Groth Carole Goble Jeffrey S Grethe Jaap Heringa Peter A C 't Hoen Rob Hooft Tobias Kuhn Ruben Kok Joost Kok Scott J Lusher Maryann E Martone Albert Mons Abel L Packer Bengt Persson Philippe Rocca-Serra Marco Roos Rene van Schaik Susanna-Assunta Sansone Erik Schultes Thierry Sengstag Ted Slater George Strawn Morris A Swertz Mark Thompson Johan van der Lei Erik van Mulligen Andra Waagmeester Peter Wittenburg Katherine Wolstencroft Jun Zhao Barend Mons Center for Plant Biotechnology and Genomics Universidad Politécnica de Madrid Madrid 28223 Spain. Stanford University Stanford 94305-5411 USA. Elsevier Amsterdam 1043 NX The Netherlands. Nature Genetics New York 10004-1562 USA. Euretos and Phortos Consultants Rotterdam 2741 CA The Netherlands. ELIXIR Wellcome Genome Campus Hinxton CB10 1SA UK. Lygature Eindhoven 5656 AG The Netherlands. Vrije Universiteit Amsterdam Dutch Techcenter for Life Sciences Amsterdam 1081 HV The Netherlands. Office of the Director National Institutes of Health Rockville 20892 USA. TNO Zeist 3700 AJ The Netherlands. Department of Genetics University of Leicester Leicester LE1 7RH UK. Harvard Medical School Boston Massachusetts MA 02115 USA. Harvard University Cambridge Massachusetts MA 02138 USA. Data Archiving and Networked Services (DANS) The Hague 2593 HW The Netherlands. GigaScience Beijing Genomics Institute Shenzhen 518083 China. Department of Bioinformatics Maastricht University Maastricht 6200 MD The Netherlands. Wageningen UR Plant Breeding Wageningen 6708 PB The Netherlands. Oxford e-Research Center University of Oxford Oxford OX1 3QG UK. Heriot-Watt University Edinburgh EH14 4AS UK. School of Computer Science University of Manchester Manchester M13 9PL UK. Center for Research in Biological Systems School of Medicine University of California San Diego La Jolla California 92093-0446 USA. Dutch Techcenter for the Life Sciences Utrecht 3501 DE The Netherlands. Department of Human Genetics Leiden University Medical Center Dutch Techcenter for the Life Sciences Leiden 2300 RC The Netherlands. Dutch TechCenter for Life Sciences and ELIXIR-NL Utrecht 3501 DE The Netherlands. VU University Amsterdam Amsterdam 1081 HV The Netherlands. Leiden Center of Data Science Leiden University Leiden 2300 RA The Netherlands. Netherlands eScience Center Amsterdam 1098 XG The Netherlands. National Center for Microscopy and Imaging Research UCSD San Di

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