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Genomic basis for RNA alterations in cancer (vol 578, pg 129, 2020)

NATURE 2023年第7948期614卷 E37-E37页

作者： Calabrese, Claudia Davidson, Natalie R. Demircioglu, Deniz Fonseca, Nuno A. He, Yao Lehmann, Kjong-Van Liu, Fenglin Shiraishi, Yuichi Soulette, Cameron M. Urban, Lara Greger, Liliana Li, Siliang Liu, Dongbing Perry, Marc D. Xiang, Qian Zhang, Fan Zhang, Junjun Bailey, Peter Erkek, Serap Hoadley, Katherine A. Hou, Yong Huska, Matthew R. Kilpinen, Helena Korbel, Jan O. Marin, Maximillian G. Markowski, Julia Nandi, Tannistha Pan-Hammarstrom, Qiang Pedamallu, Chandra Sekhar Siebert, Reiner Stark, Stefan G. Su, Hong Tan, Patrick Waszak, Sebastian M. Yung, Christina Zhu, Shida Awadalla, Philip Creighton, Chad J. Meyerson, Matthew Ouellette, B. F. Francis Wu, Kui Yang, Huanming Brazma, Alvis Brooks, Angela N. Goke, Jonathan Ratsch, Gunnar Schwarz, Roland F. Stegle, Oliver Zhang, Zemin European Molecular Biology Laboratory European Bioinformatics Institute Hinxton UK European Molecular Biology Laboratory European Bioinformatics Institute (EMBL-EBI) Cambridge UK Genome Biology Unit European Molecular Biology Laboratory (EMBL) Heidelberg Germany CIBIO/InBIO - Research Center in Biodiversity and Genetic Resources Universidade do Porto Vairão Portugal Berlin Institute for Medical Systems Biology Max Delbruck Center for Molecular Medicine Berlin Germany German Cancer Consortium (DKTK) partner site Berlin Germany German Cancer Research Center (DKFZ) Heidelberg Germany Berlin Institute for Medical Systems Biology Max Delbrück Center for Molecular Medicine Berlin Germany German Cancer Consortium (DKTK) Partner site Berlin Berlin Germany European Molecular Biology Laboratory Genome Biology Unit Heidelberg Germany Division of Computational Genomics and Systems Genetics German Cancer Research Center (DKFZ) Heidelberg Germany ETH Zurich Zurich Switzerland Memorial Sloan Kettering Cancer Center New York NY USA Weill Cornell Medical College New York NY USA SIB Swiss Institute of Bioinformatics Lausanne Switzerland University Hospital Zurich Zurich Switzerland Computational Biology Center Memorial Sloan Kettering Cancer Center New York NY USA Department of Biology ETH Zurich Zürich Switzerland Department of Computer Science ETH Zurich Zurich Switzerland Korea University Seoul South Korea Computational and Systems Biology Program Memorial Sloan Kettering Cancer Center New York NY USA Department of Physiology and Biophysics Weill Cornell Medicine New York NY USA Institute for Computational Biomedicine Weill Cornell Medicine New York NY USA Controlled Department and Institution New York NY USA Englander Institute for Precision Medicine Weill Cornell Medicine New York NY USA National University of Singapore Singapore Singapore Genome Institute of Singapore Singapore Singapore Computational and Systems Biology Genome Institute of Singap

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Analysis and computation of some tumor growth models with nutrient: From cell density models to free boundary dynamics

arXiv

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arXiv 2018年

作者： Liu, Jian-Guo Tang, Min Wang, Li Zhou, Zhennan Department of Mathematics Department of Physics Duke University School of Mathematics and Institute of Natural Sciences MOE-LSC Shanghai JiaoTong University Department of Mathematics Computational and Data-Enabled Science and Engineering Program State University of New York Buffalo United States Beijing International Center for Mathematical Research Peking University

In this paper, we study the tumor growth equation along with various models for the nutrient component, including the in vitro model and the in vivo model. At the cell density level, the spatial availability of the tumor density n is governed by the Darcy law via the pressure p\(n\) = nγ. For finite γ, we prove some a priori estimates of the tumor growth model, such as boundedness of the nutrient density, and non-negativity and growth estimate of the tumor density. As γ → ∞, the cell density models formally converge to Hele-Shaw flow models, which determine the free boundary dynamics of the tumor tissue in the incompressible limit. We derive several analytical solutions to the Hele-Shaw flow models, which serve as benchmark solutions to the geometric motion of tumor front propagation. Finally, we apply a conservative and positivity preserving numerical scheme to the cell density models, with numerical results verifying the link between cell density models and the free boundary dynamical *** Codes 35K55, 35B25, 76D27, 92C50 Copyright © 2018, The Authors. All rights reserved.

关键词： Tumors

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Follow-up observations of GW170817 with the MAGIC telescopes 37

Follow-up observations of GW170817 with the MAGIC telescopes

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37th International Cosmic Ray Conference, ICRC 2021

作者： Stamerra, A. Salafia, O.S. Berti, A. Covino, S. D'Elia, V. Miceli, D. Nava, L. Patricelli, B. Righi, C. Inoue, S. Antonelli, L.A. Ansoldi, S. De Lotto, B. Longo, F. Tavecchio, F. Acciari, V.A. Arbet Engels, A. Artero, M. Asano, K. Baack, D. Babić, A. Baquero, A. Barres de Almeida, U. Barrio, J.A. Batković, I. Becerra González, J. Bednarek, W. Bellizzi, L. Bernardini, E. Bernardos, M. Besenrieder, J. Bhattacharyya, W. Bigongiari, C. Biland, A. Blanch, O. Bökenkamp, H. Bonnoli, G. Bošnjak, Ž. Busetto, G. Carosi, R. Ceribella, G. Cerruti, M. Chai, Y. Chilingarian, A. Cikota, S. Colak, S.M. Colombo, E. Contreras, J.L. Cortina, J. D'Amico, G. Da Vela, P. Dazzi, F. De Angelis, A. Delfino, M. Delgado, J. Delgado Mendez, C. Depaoli, D. Di Pierro, F. Di Venere, L. Do Souto Espiñeira, E. Dominis Prester, D. Donini, A. Dorner, D. Doro, M. Elsaesser, D. Fallah Ramazani, V. Fattorini, A. Fonseca, M.V. Font, L. Fruck, C. Fukami, S. Fukazawa, Y. García López, R.J. Garczarczyk, M. Gasparyan, S. Gaug, M. Giglietto, N. Giordano, F. Gliwny, P. Godinović, N. Green, J.G. Green, D. Hadasch, D. Hahn, A. Heckmann, L. Herrera, J. Hoang, J. Hrupec, D. Hütten, M. Inada, T. Ishio, K. Iwamura, Y. Jiménez Martínez, I. Jormanainen, J. Jouvin, L. Karjalainen, M. Kerszberg, D. Kobayashi, Y. Kubo, H. Kushida, J. Lamastra, A. Lelas, D. Leone, F. Lindfors, E. Linhoff, L. Lombardi, S. López-Coto, R. López-Moya, M. López-Oramas, A. Loporchio, S. Machado de Oliveira Fraga, B. Maggio, C. Majumdar, P. Makariev, M. Mallamaci, M. Maneva, G. Manganaro, M. Mannheim, K. Maraschi, L. Mariotti, M. Martínez, M. Mazin, D. Menchiari, S. Mender, S. Mićanović, S. Miener, T. Miranda, J.M. Mirzoyan, R. Molina, E. Moralejo, A. Morcuende, D. Moreno, V. Moretti, E. Nakamori, T. Neustroev, V. Nigro, C. Nilsson, K. Nishijima, K. Noda, K. Nozaki, S. Ohtani, Y. Oka, T. Otero-Santos, J. Paiano, S. Palatiello, M. Paneque, D. Paoletti, R. Paredes, J.M. INAF - Osservatorio Astronomico di Roma Rome Italy INAF - Osservatorio Astronomico di Brera Merate Italy Rome Italy Max-Planck-Institut für Physik München Germany Space Science Data Center - Agenzia Spaziale Italiana Rome Italy European Gravitational Observatory Pisa Italy RIKEN Saitama Wako Japan Università di Udine INFN Trieste Udine Italy Dipartimento di Fisica Università di Trieste Trieste Italy Scuola Normale Superiore Pisa Italy Instituto de Astrofísica de Canarias Dpto. de Astrofísica Universidad de La Laguna Tenerife La LagunaE-38200 Spain Università di Udine INFN Trieste UdineI-33100 Italy RomeI-00136 Italy ETH Zürich ZürichCH-8093 Switzerland E-08193 Spain The University of Tokyo Chiba Kashiwa277-8582 Japan Technische Universität Dortmund DortmundD-44221 Germany Zagreb10000 Croatia IPARCOS Institute EMFTEL Department Universidad Complutense de Madrid MadridE-28040 Spain URCA RJ Rio de Janeiro22290-180 Brazil Università di Padova INFN PadovaI-35131 Italy University of Lodz Faculty of Physics and Applied Informatics Department of Astrophysics Lodz90-236 Poland Università di Siena INFN Pisa SienaI-53100 Italy ZeuthenD-15738 Germany Max-Planck-Institut für Physik MünchenD-80805 Germany Instituto de Astrofísica de Andalucía-CSIC Glorieta de la Astronomía s/n Granada18008 Spain Università di Pisa INFN Pisa PisaI-56126 Italy Universitat de Barcelona ICCUB IEEC-UB BarcelonaE-08028 Spain Armenian MAGIC Group A. Alikhanyan National Science Laboratory Yerevan0036 Armenia Centro de Investigaciones Energéticas Medioambientales y Tecnológicas MadridE-28040 Spain INFN MAGIC Group INFN Sezione di Torino Università degli Studi di Torino TorinoI-10125 Italy INFN MAGIC Group INFN Sezione di Bari Dipartimento Interateneo di Fisica Università e del Politecnico di Bari BariI-70125 Italy Croatian MAGIC Group University of Rijeka Department of Physics Rijeka51000 Croatia Universität Würzburg WürzburgD-

The discovery of the electromagnetic counterpart AT2017gfo and the GRB 170817A, associated to the binary neutron star merger GW170817, was one of the major advances in the study of gamma-ray bursts (GRBs) and the hallmark of the multi-messenger astronomy with gravitational waves. Another breakthrough in GRB physics is represented by the discovery of the highly energetic, teraelectronvolt (TeV) component in the GRB 190114C, possibly an universal component in all GRBs. This conclusion is also suggested by the hint of TeV emission in the short GRB 160821B and a few more events reported in the literature. The missing observational piece is the joint detection of TeV emission and gravitational waves from a short GRB and its progenitor. MAGIC observed the counterpart AT2017gfo as soon as the visibility conditions allowed it, namely from January to June 2018. These observations correspond to the maximum flux level observed in the radio and X-ray bands. The upper limits derived from TeV observations are compared with the modelling of the late non-thermal emission using the multi-frequency SED. © Copyright owned by the author(s) under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND 4.0)

关键词： Gravity waves

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Community-developed checklists for publishing images and image analyses

arXiv

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arXiv 2023年

作者： Schmied, Christopher Nelson, Michael S. Avilov, Sergiy Bakker, Gert-Jan Bertocchi, Cristina Bischof, Johanna Boehm, Ulrike Brocher, Jan Carvalho, Mariana Chiritescu, Catalin Christopher, Jana Cimini, Beth A. Conde-Sousa, Eduardo Ebner, Michael Ecker, Rupert Eliceiri, Kevin Fernandez-Rodriguez, Julia Gaudreault, Nathalie Gelman, Laurent Grunwald, David Gu, Tingting Halidi, Nadia Hammer, Mathias Hartley, Matthew Held, Marie Jug, Florian Kapoor, Varun Koksoy, Ayse Aslihan Lacoste, Judith Le Dévédec, Sylvia Le Guyader, Sylvie Liu, Penghuan Martins, Gabriel G. Mathur, Aastha Miura, Kota Llopis, Paula Montero Nitschke, Roland North, Alison Parslow, Adam C. Payne-Dwyer, Alex Plantard, Laure Ali, Rizwan Schroth-Diez, Britta Schütz, Lucas Scott, Ryan T. Seitz, Arne Selchow, Olaf Sharma, Ved P. Spitaler, Martin Srinivasan, Sathya Strambio-De-Castillia, Caterina Taatjes, Douglas Tischer, Christian Jambor, HelenaKlara Fondazione Human Technopole Viale Rita Levi-Montalcini 1 Milano20157 Italy Department of Biomedical Engineering University of Wisconsin-Madison MadisonWI53706 United States Max Planck Institute of Immunobiology and Epigenetics Freiburg79108 Germany Medical BioSciences department Radboud University Medical Centre Nijmegen Netherlands Laboratory for Molecular mechanics of cell adhesions Pontificia Universidad Católica de Chile Santiago Chile Osaka University Graduate School of Engineering Science Japan Euro-BioImaging ERIC Bio-Hub Meyerhofstr. 1 Heidelberg69117 Germany Carl Zeiss AG Carl-Zeiss-Straße 22 Oberkochen73447 Germany BioVoxxel Scientific Image Processing and Analysis Eugen-Roth-Strasse 8 Ludwigshafen67071 Germany Nanophotonics and BioImaging Facility at INL International Iberian Nanotechnology Laboratory 4715-330 Portugal Phi Optics Inc. 1800 S. Oak St Ste 106 ChampaignIL61820 United States Biochemistry Center Heidelberg Heidelberg University Germany Imaging Platform Broad Institute CambridgeMA02142 United States i3S Instituto de Investigação e Inovação Em Saúde and INEB Instituto de Engenharia Biomédica Universidade do Porto Porto Portugal Translational Research Institute Queensland University of Technology 37 Kent Street WoolloongabbaQLD4102 Australia School of Biomedical Sciences Faculty of Health Queensland University of Technology BrisbaneQLD4059 Australia TissueGnostics GmbH Vienna1020 Austria Department of Medical Physics and Biomedical Engineering University of Wisconsin-Madison MadisonWI53706 United States Centre for Cellular Imaging Core Facility Sahlgrenska Academy University of Gothenburg Sweden Allen Institute for Cell Science SeattleWA United States Friedrich Miescher Institute for Biomedical Research Basel Switzerland RNA Therapeutics Institute University of Massachusetts Chan Medical School WorcesterMA01605 United States University of Oklahoma NormanOK United States Advanced Light Microscopy Unit Ce

Images document scientific discoveries and are prevalent in modern biomedical research. Microscopy imaging in particular is currently undergoing rapid technological advancements. However for scientists wishing to publish the obtained images and image analyses results, there are to date no unified guidelines. Consequently, microscopy images and image data in publications may be unclear or difficult to interpret. Here we present community-developed checklists for preparing light microscopy images and image analysis for publications. These checklists offer authors, readers, and publishers key recommendations for image formatting and annotation, color selection, data availability, and for reporting image analysis workflows. The goal of our guidelines is to increase the clarity and reproducibility of image figures and thereby heighten the quality and explanatory power of microscopy data is in publications. © 2023, CC BY-SA.

关键词： Image analysis

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Patterns of somatic structural variation in human cancer genomes (vol 578, pg 112, 2020)

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NATURE 2023年第7948期614卷 E38-E38页

作者： Li, Yilong Roberts, Nicola D. Wala, Jeremiah A. Shapira, Ofer Schumacher, Steven E. Kumar, Kiran Khurana, Ekta Waszak, Sebastian Korbel, Jan O. Haber, James E. Imielinski, Marcin Weischenfeldt, Joachim Beroukhim, Rameen Campbell, Peter J. Cancer Genome Project Wellcome Trust Sanger Institute Hinxton UK Totient Inc Cambridge MA USA Wellcome Sanger Institute Wellcome Genome Campus Hinxton UK Department of Haematology University of Cambridge Cambridge UK Cambridge University Hospitals NHS Foundation Trust Cambridge UK Korea Advanced Institute of Science and Technology Daejeon South Korea Department of Zoology Genetics and Physical Anthropology University of Santiago de Compostela Santiago de Compostela Spain Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS) University of Santiago de Compostela Santiago de Compostela Spain The Biomedical Research Centre (CINBIO) University of Vigo Vigo Spain Centre for Research in Molecular Medicine and Chronic Diseases (CiMUS) Universidade de Santiago de Compostela Santiago de Compostela Spain Department of Zoology Genetics and Physical Anthropology (CiMUS) Universidade de Santiago de Compostela Santiago de Compostela Spain The Biomedical Research Centre (CINBIO) Universidade de Vigo Vigo Spain The Broad Institute of Harvard and MIT Cambridge MA USA Bioinformatics and Integrative Genomics Harvard University Cambridge MA USA Department of Cancer Biology Dana-Farber Cancer Institute Boston MA USA Broad Institute of MIT and Harvard Cambridge MA USA Department of Medical Oncology Dana-Farber Cancer Institute Boston MA USA Harvard Medical School Boston MA USA Massachusetts General Hospital Center for Cancer Research Charlestown MA USA Dana-Farber Cancer Institute Boston MA USA Department of Biostatistics and Computational Biology Dana-Farber Cancer Institute and Harvard Medical School Boston MA USA Weill Cornell Medical College New York NY USA Department of Physiology and Biophysics Weill Cornell Medicine New York NY USA Institute for Computational Biomedicine Weill Cornell Medicine New York NY USA Controlled Department and Institution New York NY USA Englander Institute for Precision Medicine Weill Cornell Medicine Ne

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Jet modification via π0-hadron correlations in Au+Au collisions at sNN=200 GeV

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Physical Review C 2024年第4期110卷 044901页

作者： N. J. Abdulameer U. Acharya A. Adare S. Afanasiev C. Aidala N. N. Ajitanand Y. Akiba H. Al-Bataineh J. Alexander M. Alfred K. Aoki N. Apadula L. Aphecetche J. Asai H. Asano E. T. Atomssa R. Averbeck T. C. Awes B. Azmoun V. Babintsev M. Bai G. Baksay L. Baksay A. Baldisseri N. S. Bandara B. Bannier K. N. Barish P. D. Barnes B. Bassalleck A. T. Basye S. Bathe S. Batsouli V. Baublis C. Baumann A. Bazilevsky M. Beaumier S. Beckman S. Belikov R. Belmont R. Bennett A. Berdnikov Y. Berdnikov L. Bichon A. A. Bickley B. Blankenship D. S. Blau J. G. Boissevain J. S. Bok H. Borel V. Borisov K. Boyle M. L. Brooks J. Bryslawskyj H. Buesching V. Bumazhnov G. Bunce S. Butsyk C. M. Camacho S. Campbell B. S. Chang W. C. Chang J. L. Charvet C.-H. Chen D. Chen S. Chernichenko M. Chiu C. Y. Chi I. J. Choi J. B. Choi R. K. Choudhury T. Chujo P. Chung A. Churyn V. Cianciolo Z. Citron B. A. Cole M. Connors P. Constantin R. Corliss M. Csanád T. Csörgő D. d'Enterria T. Dahms S. Dairaku T. W. Danley K. Das A. Datta M. S. Daugherity G. David K. DeBlasio K. Dehmelt A. Denisov A. Deshpande E. J. Desmond O. Dietzsch A. Dion P. B. Diss M. Donadelli V. Doomra J. H. Do O. Drapier A. Drees K. A. Drees A. K. Dubey J. M. Durham A. Durum D. Dutta V. Dzhordzhadze Y. V. Efremenko F. Ellinghaus H. En'yo T. Engelmore A. Enokizono R. Esha K. O. Eyser B. Fadem N. Feege D. E. Fields M. Finger, Jr. M. Finger D. Firak D. Fitzgerald F. Fleuret S. L. Fokin Z. Fraenkel J. E. Frantz A. Franz A. D. Frawley K. Fujiwara Y. Fukao T. Fusayasu P. Gallus C. Gal P. Garg I. Garishvili H. Ge F. Giordano A. Glenn H. Gong M. Gonin J. Gosset Y. Goto R. Granier de Cassagnac N. Grau S. V. Greene M. Grosse Perdekamp T. Gunji T. Guo H.-Å. Gustafsson T. Hachiya A. Hadj Henni J. S. Haggerty K. I. Hahn H. Hamagaki H. F. Hamilton J. Hanks R. Han S. Y. Han E. P. Hartouni K. Haruna S. Hasegawa T. O. S. Haseler K. Hashimoto E. Haslum R. Hayano M. Heffner T. K. Hemmick T. Hester X. He J. C. Hill A. Hodges M. Hohlmann R. S. Hollis W. Holzmann K. Homma B. Hong T. Horaguchi D. Hornback T. Debrecen University H-4010 Debrecen Egyetem tér 1 Hungary HUN-REN ATOMKI H-4026 Debrecen Bem tér 18/c Hungary Atlanta Georgia 30303 USA University of Colorado Boulder Colorado 80309 USA Joint Institute for Nuclear Research 141980 Dubna Moscow Region Russia Department of Physics University of Massachusetts Amherst Massachusetts 01003-9337 USA Department of Physics University of Michigan Ann Arbor Michigan 48109-1040 USA Chemistry Department Stony Brook University SUNY Stony Brook New York 11794-3400 USA RIKEN Nishina Center for Accelerator-Based Science Wako Saitama 351-0198 Japan RIKEN BNL Research Center New Mexico State University Las Cruces New Mexico 88003 USA Department of Physics and Astronomy Howard University Washington DC 20059 USA KEK High Energy Accelerator Research Organization Tsukuba Ibaraki 305-0801 Japan Kyoto University Kyoto 606-8502 Japan Iowa State University Ames Iowa 50011 USA Department of Physics and Astronomy Stony Brook University SUNY Stony Brook New York 11794-3800 USA SUBATECH (Ecole des Mines de Nantes CNRS-IN2P3 Université de Nantes) BP 20722-44307 Nantes France Laboratoire Leprince-Ringuet Ecole Polytechnique CNRS-IN2P3 Route de Saclay F-91128 Palaiseau France Oak Ridge National Laboratory Oak Ridge Tennessee 37831 USA Physics Department IHEP Protvino State Research Center of Russian Federation Institute for High Energy Physics Protvino 142281 Russia Collider-Accelerator Department Florida Institute of Technology Melbourne Florida 32901 USA Dapnia CEA Saclay F-91191 Gif-sur-Yvette France University of California-Riverside Riverside California 92521 USA Los Alamos National Laboratory Los Alamos New Mexico 87545 USA University of New Mexico Albuquerque New Mexico 87131 USA Abilene Christian University Abilene Texas 79699 USA Baruch College City University of New York New York New York 10010 USA PNPI Petersburg Nuclear Physics Institute Gatchina Leningrad region 188300 Russia Institut für

High-momentum two-particle correlations are a useful tool for studying jet-quenching effects in the quark-gluon plasma. Angular correlations between neutral-pion triggers and charged hadrons with transverse momenta in the range 4–12 GeV/c and 0.5–7 GeV/c, respectively, have been measured by the PHENIX experiment in 2014 for Au+Au collisions at sNN=200 GeV. Suppression is observed in the yield of high-momentum jet fragments opposite the trigger particle, which indicates jet suppression stemming from in-medium partonic energy loss, while enhancement is observed for low-momentum particles. The ratio and differences between the yield in Au+Au collisions and p+p collisions, IAA and ΔAA, as a function of the trigger-hadron azimuthal separation, Δϕ, are measured for the first time at the BNL Relativistic Heavy Ion Collider. These results better quantify how the yield of low-pT associated hadrons is enhanced at wide angle, which is crucial for studying energy loss as well as medium-response effects.

关键词： Particle correlations & fluctuations Relativistic heavy-ion collisions Hadrons Pions Hadron colliders

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Correction to: Recent Human Papillomavirus Vaccination is Associated with a Lower Risk of COVID-19: A US database Cohort Study

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Drugs 2023年第12期83卷 1145页

作者： Thomas Yen-Ting Chen Shiow-Ing Wang Yao-Min Hung Joshua J Hartman Renin Chang James Cheng-Chung Wei Department of Otolaryngology-Head and Neck Surgery Kaohsiung Medical University Hospital Kaohsiung Taiwan. Harvard T.H. Chan School of Public Health Boston MA USA. Center for Health Data Science Department of Medical Research Chung Shan Medical University Hospital Taichung Taiwan. Institute of Medicine Chung Shan Medical University Taichung Taiwan. Department of Nursing Jen-Teh Junior College of Medicine Nursing and Management Miaoli County Taiwan. Division of Nephrology Department of Internal Medicine Taipei Veterans General Hospital Taitung Branch Taitung City Taiwan. Master Program in Biomedicine College of Science and Engineering National Taitung University Taitung Taiwan. College of Health and Nursing Meiho University Pingtung Taiwan. TriNetX Cambridge MA USA. Department of Emergency Medicine Kaohsiung Veterans General Hospital No. 386 Dazhong First Rd. Zuoying District Kaohsiung City Taiwan. rhapsody1881@***. Department of Recreation and Sports Management Tajen University Pintung Taiwan. rhapsody1881@***. Institute of Medicine Chung Shan Medical University Taichung Taiwan. wei3228@***. Division of Allergy Immunology and Rheumatology Chung Shan Medical University Hospital No. 110 Sec. 1 Jianguo N. Rd. South District Taichung City Taiwan. wei3228@***. Graduate Institute of Integrated Medicine China Medical University Taichung Taiwan. wei3228@***. Department of Medical Research Taichung Veterans General Hospital Taichung Taiwan. wei3228@***.

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TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A (vol 603, pg 131, 2022)

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NATURE 2024年第8020期631卷 E7-E7页

作者： Brown, Anna-Leigh Wilkins, Oscar G. Keuss, Matthew J. Hill, Sarah E. Zanovello, Matteo Lee, Weaverly Colleen Bampton, Alexander Lee, Flora C. Y. Masino, Laura Qi, Yue A. Bryce-Smith, Sam Gatt, Ariana Hallegger, Martina Fagegaltier, Delphine Phatnani, Hemali Phatnani, Hemali Newcombe, Jia Gustavsson, Emil K. Seddighi, Sahba Reyes, Joel F. Coon, Steven L. Ramos, Daniel Schiavo, Giampietro Fisher, Elizabeth M. C. Raj, Towfique Secrier, Maria Lashley, Tammaryn Ule, Jernej Buratti, Emanuele Humphrey, Jack Ward, Michael E. Fratta, Pietro UCL Queen Square Motor Neuron Disease Centre Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology UCL London UK The Francis Crick Institute London UK UK Dementia Research Institute University College London London UK Department of Molecular Biology and Nanobiotechnology National Institute of Chemistry Ljubljana Slovenia National Institute of Neurological Disorders and Stroke NIH Bethesda MD USA Medical Scientist Training Program Johns Hopkins University School of Medicine Baltimore MD USA Center for Alzheimer’s and Related Dementias National Institutes of Health Bethesda MD USA Queen Square Brain Bank UCL Queen Square Institute of Neurology University College London London UK Department of Neurodegenerative Disease UCL Queen Square Institute of Neurology University College London London UK Great Ormond Street Institute of Child Health Genetics and Genomic Medicine University College London London UK Center for Genomics of Neurodegenerative Disease New York Genome Center (NYGC) New York NY USA NeuroResource Department of Neuroinflammation UCL Queen Square Institute of Neurology London UK Molecular Genomics Core Eunice Kennedy Shriver National Institute of Child Health and Human Development NIH Bethesda MD USA Nash Family Department of Neuroscience and Friedman Brain Institute Icahn School of Medicine at Mount Sinai New York NY USA Ronald M. Loeb Center for Alzheimer’s Disease Icahn School of Medicine at Mount Sinai New York NY USA Department of Pathology Fishberg Department of Neuroscience Icahn School of Medicine at Mount Sinai New York NY USA Department of Genetics and Genomic Sciences and Icahn Institute for Data Science and Genomic Technology Icahn School of Medicine at Mount Sinai New York NY USA Estelle and Daniel Maggin Department of Neurology Icahn School of Medicine at Mount Sinai New York NY USA Department of Genetics Evolution and Environment UCL Genetics Institute University College London London UK Mole

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The Brain Tumor Segmentation (BraTS) Challenge 2023: Focus on Pediatrics (CBTN-CONNECT-DIPGR-ASNR-MICCAI BraTS-PEDs)

arXiv

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arXiv 2023年

作者： Kazerooni, Anahita Fathi Khalili, Nastaran Liu, Xinyang Haldar, Debanjan Jiang, Zhifan Anwar, Syed Muhammed Albrecht, Jake Adewole, Maruf Anazodo, Udunna Anderson, Hannah Bagheri, Sina Baid, Ujjwal Bergquist, Timothy Borja, Austin J. Calabrese, Evan Chung, Verena Conte, Gian-Marco Dako, Farouk Eddy, James Ezhov, Ivan Familiar, Ariana Farahani, Keyvan Haldar, Shuvanjan Iglesias, Juan Eugenio Janas, Anastasia Johansen, Elaine Jones, Blaise V. Kofler, Florian LaBella, Dominic Lai, Hollie Anne Van Leemput, Koen Li, Hongwei Bran Maleki, Nazanin McAllister, Aaron S. Meier, Zeke Menze, Bjoern Moawad, Ahmed W. Nandolia, Khanak K. Pavaine, Julija Piraud, Marie Poussaint, Tina Prabhu, Sanjay P. Reitman, Zachary Rodriguez, Andres Rudie, Jeffrey D. Sanchez-Montano, Mariana Shaikh, Ibraheem Salman Shah, Lubdha M. Sheth, Nakul Shinohara, Russel Taki Tu, Wenxin Viswanathan, Karthik Wang, Chunhao Ware, Jeffrey B. Wiestler, Benedikt Wiggins, Walter Zapaishchykova, Anna Aboian, Mariam Bornhorst, Miriam de Blank, Peter Deutsch, Michelle Fouladi, Maryam Hoffman, Lindsey Kann, Benjamin Lazow, Margot Mikael, Leonie Nabavizadeh, Ali Packer, Roger Resnick, Adam Rood, Brian Vossough, Arastoo Bakas, Spyridon Linguraru, Marius George Children’s Hospital of Philadelphia PhiladelphiaPA United States Department of Neurosurgery University of Pennsylvania PhiladelphiaPA United States University of Pennsylvania PhiladelphiaPA United States Sheikh Zayed Institute for Pediatric Surgical Innovation Children’s National Hospital WashingtonDC United States Department of Neurosurgery Thomas Jefferson University Hospital PA United States Sage Bionetworks United States Lab Crestview Radiology Lagos Nigeria McGill University MontrealQC Canada Department of Radiology Perelman School of Medicine University of Pennsylvania PhiladelphiaPA United States Department of Pathology and Laboratory Medicine Perelman School of Medicine University of Pennsylvania PhiladelphiaPA United States Department of Neurosurgery The University of Southern California CA United States Department of Radiology Duke University Medical Center United States Mayo Clinic MN United States Center for Global Health Perelman School of Medicine University of Pennsylvania PhiladelphiaPA United States Department of Informatics Technical University Munich Germany TranslaTUM - Central Institute for Translational Cancer Research Technical University of Munich Germany Cancer Imaging Program National Cancer Institute National Institutes of Health BethesdaMD United States Biomedical Engineering Rutgers University New BrunswickNJ United States Athinoula A Martinos Center for Biomedical Imaging Massachusetts General Hospital BostonMA United States Yale University New HavenCT United States PrecisionFDA U.S. Food and Drug Administration Silver SpringMD United States Cincinnati Children’s Hospital Medical Center United States Helmholtz AI Helmholtz Munich Germany Department of Radiation Oncology Duke University Medical Center United States Department of Radiology Children’s Health Orange County CA United States Department of Applied Mathematics and Computer Science Technical University of Denmark Denmark Department of Radiol

Pediatric tumors of the central nervous system are the most common cause of cancer-related death in children. The five-year survival rate for high-grade gliomas in children is less than 20%. Due to their rarity, the diagnosis of these entities is often delayed, their treatment is mainly based on historic treatment concepts, and clinical trials require multi-institutional collaborations. The MICCAI Brain Tumor Segmentation (BraTS) Challenge is a landmark community benchmark event with a successful history of 12 years of resource creation for the segmentation and analysis of adult glioma. Here we present the CBTN-CONNECT-DIPGR-ASNR-MICCAI BraTS-PEDs 2023 challenge, which represents the first BraTS challenge focused on pediatric brain tumors with data acquired across multiple international consortia dedicated to pediatric neuro-oncology and clinical trials. The BraTS-PEDs 2023 challenge focuses on benchmarking the development of volumentric segmentation algorithms for pediatric brain glioma through standardized quantitative performance evaluation metrics utilized across the BraTS 2023 cluster of challenges. Models gaining knowledge from the BraTS-PEDs multi-parametric structural MRI (mpMRI) training data will be evaluated on separate validation and unseen test mpMRI dataof high-grade pediatric glioma. The CBTN-CONNECT-DIPGR-ASNR-MICCAI BraTS-PEDs 2023 challenge brings together clinicians and AI/imaging scientists to lead to faster development of automated segmentation techniques that could benefit clinical trials, and ultimately the care of children with brain tumors. © 2023, CC BY.

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Genetic drivers of heterogeneity in type 2 diabetes pathophysiology

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Nature 2024年第8003期627卷 347-357页

作者： Ken Suzuki Konstantinos Hatzikotoulas Lorraine Southam Henry J Taylor Xianyong Yin Kim M Lorenz Ravi Mandla Alicia Huerta-Chagoya Giorgio E M Melloni Stavroula Kanoni Nigel W Rayner Ozvan Bocher Ana Luiza Arruda Kyuto Sonehara Shinichi Namba Simon S K Lee Michael H Preuss Lauren E Petty Philip Schroeder Brett Vanderwerff Mart Kals Fiona Bragg Kuang Lin Xiuqing Guo Weihua Zhang Jie Yao Young Jin Kim Mariaelisa Graff Fumihiko Takeuchi Jana Nano Amel Lamri Masahiro Nakatochi Sanghoon Moon Robert A Scott James P Cook Jung-Jin Lee Ian Pan Daniel Taliun Esteban J Parra Jin-Fang Chai Lawrence F Bielak Yasuharu Tabara Yang Hai Gudmar Thorleifsson Niels Grarup Tamar Sofer Matthias Wuttke Chloé Sarnowski Christian Gieger Darryl Nousome Stella Trompet Soo-Heon Kwak Jirong Long Meng Sun Lin Tong Wei-Min Chen Suraj S Nongmaithem Raymond Noordam Victor J Y Lim Claudia H T Tam Yoonjung Yoonie Joo Chien-Hsiun Chen Laura M Raffield Bram Peter Prins Aude Nicolas Lisa R Yanek Guanjie Chen Jennifer A Brody Edmond Kabagambe Ping An Anny H Xiang Hyeok Sun Choi Brian E Cade Jingyi Tan K Alaine Broadaway Alice Williamson Zoha Kamali Jinrui Cui Manonanthini Thangam Linda S Adair Adebowale Adeyemo Carlos A Aguilar-Salinas Tarunveer S Ahluwalia Sonia S Anand Alain Bertoni Jette Bork-Jensen Ivan Brandslund Thomas A Buchanan Charles F Burant Adam S Butterworth Mickaël Canouil Juliana C N Chan Li-Ching Chang Miao-Li Chee Ji Chen Shyh-Huei Chen Yuan-Tsong Chen Zhengming Chen Lee-Ming Chuang Mary Cushman John Danesh Swapan K Das H Janaka de Silva George Dedoussis Latchezar Dimitrov Ayo P Doumatey Shufa Du Qing Duan Kai-Uwe Eckardt Leslie S Emery Daniel S Evans Michele K Evans Krista Fischer James S Floyd Ian Ford Oscar H Franco Timothy M Frayling Barry I Freedman Pauline Genter Hertzel C Gerstein Vilmantas Giedraitis Clicerio González-Villalpando Maria Elena González-Villalpando Penny Gordon-Larsen Myron Gross Lindsay A Guare Sophie Hackinger Liisa Hakaste Sohee Han Andrew T Hattersley Christian Herder Momoko Horikoshi Annie-Green Howard Willa Centre for Genetics and Genomics Versus Arthritis Centre for Musculoskeletal Research Division of Musculoskeletal and Dermatological Sciences University of Manchester Manchester UK. Department of Diabetes and Metabolic Diseases Graduate School of Medicine University of Tokyo Tokyo Japan. Department of Statistical Genetics Osaka University Graduate School of Medicine Suita Japan. Institute of Translational Genomics Helmholtz Zentrum München German Research Center for Environmental Health Neuherberg Germany. konstantinos.hatzikotoulas@helmholtz-munich.de. Institute of Translational Genomics Helmholtz Zentrum München German Research Center for Environmental Health Neuherberg Germany. Center for Precision Health Research National Human Genome Research Institute National Institutes of Health Bethesda MD USA. British Heart Foundation Cardiovascular Epidemiology Unit Department of Public Health and Primary Care University of Cambridge Cambridge UK. Heart and Lung Research Institute University of Cambridge Cambridge UK. Department of Epidemiology School of Public Health Nanjing Medical University Nanjing China. Department of Biostatistics and Center for Statistical Genetics University of Michigan Ann Arbor MI USA. Corporal Michael J. Crescenz VA Medical Center Philadelphia PA USA. Department of Systems Pharmacology and Translational Therapeutics University of Pennsylvania Perelman School of Medicine Philadelphia PA USA. Department of Genetics University of Pennsylvania Perelman School of Medicine Philadelphia PA USA. Programs in Metabolism and Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA USA. Diabetes Unit and Center for Genomic Medicine Massachusetts General Hospital Boston MA USA. TIMI Study Group Division of Cardiovascular Medicine Brigham and Women's Hospital Harvard Medical School Boston MA USA. William Harvey Research Institute Barts and the London School of Medicine and Dentistry Queen Mary University of London L

Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse pathophysiological processes and molecular mechanisms that are often specific to cell type. Here, to characterize the genetic contribution to these processes across ancestry groups, we aggregate genome-wide association study data from 2,535,601 individuals (39.7% not of European ancestry), including 428,452 cases of T2D. We identify 1,289 independent association signals at genome-wide significance (P < 5 × 10) that map to 611 loci, of which 145 loci are, to our knowledge, previously unreported. We define eight non-overlapping clusters of T2D signals that are characterized by distinct profiles of cardiometabolic trait associations. These clusters are differentially enriched for cell-type-specific regions of open chromatin, including pancreatic islets, adipocytes, endothelial cells and enteroendocrine cells. We build cluster-specific partitioned polygenic scores in a further 279,552 individuals of diverse ancestry, including 30,288 cases of T2D, and test their association with T2D-related vascular outcomes. Cluster-specific partitioned polygenic scores are associated with coronary artery disease, peripheral artery disease and end-stage diabetic nephropathy across ancestry groups, highlighting the importance of obesity-related processes in the development of vascular outcomes. Our findings show the value of integrating multi-ancestry genome-wide association study data with single-cell epigenomics to disentangle the aetiological heterogeneity that drives the development and progression of T2D. This might offer a route to optimize global access to genetically informed diabetes care.

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