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Liquid-EM goes viral - visualizing structure and dynamics

Current opinion in structural biology 2022年 75卷 102426页

作者： Deborah F Kelly Liza-Anastasia DiCecco G M Jonaid William J Dearnaley Michael S Spilman Jennifer L Gray Madeline J Dressel-Dukes Department of Biomedical Engineering Pennsylvania State University University Park PA 16802 USA Center for Structural Oncology Pennsylvania State University University Park PA 16802 USA Materials Research Institute Pennsylvania State University University Park PA 16802 USA. Electronic address: Debkelly@psu.edu. Department of Materials Science and Engineering McMaster University Hamilton ON L8S 4L7 Canada. Electronic address: https://***/LizaDiCecco. Bioinformatics and Genomics Graduate Program Huck Institutes of the Life Sciences Pennsylvania State University University Park PA 16802 USA. Materials Research Institute Pennsylvania State University University Park PA 16802 USA. Electronic address: https://***/PennStateMRI. Direct Electron LP San Diego CA 92128 USA. Electronic address: https://***/DirectElectron. Materials Research Institute Pennsylvania State University University Park PA 16802 USA. Protochips Inc. Morrisville NC 27560 USA. Electronic address: https://***/Protochips.

Liquid-electron microscopy (EM), the room temperature correlate to cryo-EM, is an exciting new technique delivering real-time data of dynamic reactions in solution. Here, we explain how liquid-EM gained popularity in recent years by examining key experiments conducted on viral assemblies and host-pathogen interactions. We describe developing workflows for specimen preparation, data collection, and computing processes that led to the first high-resolution virus structures in a liquid environment. Equally important, we review why liquid-electron tomography may become the next big thing in biomedical research due to its ability to monitor live viruses entering cells within seconds. Taken together, we pose the idea that liquid-EM can serve as a dynamic complement to current cryo-EM methods, inspiring the "real-time revolution" in nanoscale imaging.

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Author Correction: Integration of human adipocyte chromosomal interactions with adipose gene expression prioritizes obesity-related genes from GWAS

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Nature communications 2018年第1期9卷 3472页

作者： David Z Pan Kristina M Garske Marcus Alvarez Yash V Bhagat James Boocock Elina Nikkola Zong Miao Chelsea K Raulerson Rita M Cantor Mete Civelek Craig A Glastonbury Kerrin S Small Michael Boehnke Aldons J Lusis Janet S Sinsheimer Karen L Mohlke Markku Laakso Päivi Pajukanta Arthur Ko Department of Human Genetics David Geffen School of Medicine at UCLA Los Angeles CA 90095 USA. Bioinformatics Interdepartmental Program UCLA Los Angeles CA 90095 USA. Department of Genetics University of North Carolina Chapel Hill NC 27599 USA. Department of Biomedical Engineering University of Virginia Charlottesville VA 22904 USA. Big Data Institute University of Oxford Oxford OX3 7LF UK. Department of Twin Research and Genetic Epidemiology King's College London UK. Department of Biostatistics University of Michigan Ann Arbor MI 48109 USA. Department of Biomathematics David Geffen School of Medicine at UCLA Los Angeles CA 90095 USA. Institute of Clinical Medicine Internal Medicine University of Eastern Finland and Kuopio University Hospital Kuopio FI-70210 Finland. Molecular Biology Institute at UCLA Los Angeles CA 90095 USA. Department of Human Genetics David Geffen School of Medicine at UCLA Los Angeles CA 90095 USA. a5ko@ucla.edu. Molecular Biology Institute at UCLA Los Angeles CA 90095 USA. a5ko@ucla.edu.

In the original version of this Article, Supplementary Table 10 contained incorrect primer sequences for the mobility shift assay for SNP rs4776984. These errors have now been fixed and the corrected version of the Su...

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The IBEX Knowledge-Base: Achieving more together with open science

arXiv

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arXiv 2024年

作者： Radtke, Andrea J. Anidi, Ifeanyichukwu Arakkal, Leanne Arroyo-Mejias, Armando Beuschel, Rebecca T. Börner, Katy Chu, Colin J. Clark, Beatrice Clatworthy, Menna R. Colautti, Jake Croteau, Joshua Denha, Saven Dever, Rose Dutra, Walderez O. Fritzsche, Sonja Fullam, Spencer Gerner, Michael Y. Gola, Anita Gollob, Kenneth J. Hernandez, Jonathan M. Hor, Jyh Liang Ichise, Hiroshi Jing, Zhixin Jonigk, Danny Kandov, Evelyn Kastenmüller, Wolfgang Koenig, Joshua F.E. Kothurkar, Aanandita Kreins, Alexandra Y. Lamborn, Ian Lin, Yuri Morais, Katia Luciano Pereira Lunich, Aleksandra Luz, Jean C.S. MacDonald, Ryan B. Makranz, Chen Maltez, Vivien I. Moriaty, Ryan V. Ocampo-Godinez, Juan M. Olyntho, Vitoria M. Padhan, Kartika Remmert, Kirsten Richoz, Nathan Schrom, Edward C. Shang, Wanjing Shi, Lihong Shih, Rochelle M. Speranza, Emily Stierli, Salome Teichmann, Sarah A. Veres, Tibor Z. Vierhout, Megan Wachter, Brianna T. Wade-Vallance, Adam K. Williams, Margaret Zangger, Nathan Germain, Ronald N. Yaniv, Ziv Lymphocyte Biology Section Center for Advanced Tissue Imaging Laboratory of Immune System Biology National Institute of Allergy and Infectious Diseases National Institutes of Health BethesdaMD United States Critical Care Medicine and Pulmonary Branch National Heart Lung and Blood Institute National Institutes of Health BethesdaMD United States Lymphocyte Biology Section Laboratory of Immune System Biology National Institute of Allergy and Infectious Diseases National Institutes of Health BethesdaMD United States Department of Intelligent Systems Engineering Indiana University BloomingtonIN United States UCL Institute of Ophthalmology NIHR Moorfields Biomedical Research Centre London United Kingdom Cambridge Institute for Therapeutic Immunology and Infectious Diseases University of Cambridge Department of Medicine Molecular Immunity Unit Laboratory of Molecular Biology Cambridge United Kingdom McMaster Immunology Research Centre Schroeder Allergy and Immunology Research Institute Department of Medicine Faculty of Health Sciences McMaster University HamiltonON Canada Department of Business Development BioLegend Inc. San DiegoCA United States Functional Immunogenomics Unit National Institute of Arthritis and Musculoskeletal and Skin Diseases National Institutes of Health BethesdaMD United States Laboratory of Cell-Cell Interactions Department of Morphology Institute of Biological Sciences Universidade Federal de Minas Gerais MG Belo Horizonte Brazil Spatial Proteomics Group Berlin Germany Division of Rheumatology Rush University Medical Center ChicagoIL United States Department of Immunology University of Washington School of Medicine SeattleWA United States Robin Chemers Neustein Laboratory of Mammalian Cell Biology and Development The Rockefeller University New YorkNY United States Hospital Israelita Albert Einstein SP Sao Paulo Brazil Surgical Oncology Program National Cancer Institute National Institutes of Health BethesdaMD United St

Iterative Bleaching Extends multipleXity (IBEX) is a versatile method for highly multiplexed imaging of diverse tissues. Based on open science principles, we created the IBEX Knowledge-Base, a resource for reagents, p... 详细信息

关键词： Cleaning

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Author Correction: T cell egress via lymphatic vessels is tuned by antigen encounter and limits tumor control

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Nature immunology 2023年第4期24卷 729页

作者： Maria M Steele Abhinav Jaiswal Ines Delclaux Ian D Dryg Dhaarini Murugan Julia Femel Sunny Son Haley du Bois Cameron Hill Sancy A Leachman Young H Chang Lisa M Coussens Niroshana Anandasabapathy Amanda W Lund Ronald O. Perelman Department of Dermatology NYU Grossman School of Medicine New York University Langone Health New York NY USA. Department of Cell Developmental and Cancer Biology and Knight Cancer Institute Oregon Health and Science University Portland OR USA. Department of Dermatology Microbiology and Immunology Meyer Cancer Center Englander Institute of Precision Medicine Weill Cornell Medicine New York NY USA. Applied Bioinformatics Laboratories NYU Langone Health New York NY USA. Department of Dermatology Oregon Health and Science University Portland OR USA. Department of Biomedical Engineering and Computational Biology Program Oregon Health and Science University Portland OR USA. OHSU Center for Spatial Systems Biomedicine Oregon Health and Science University Portland OR USA. Ronald O. Perelman Department of Dermatology NYU Grossman School of Medicine New York University Langone Health New York NY USA. amanda.lund@***. Department of Cell Developmental and Cancer Biology and Knight Cancer Institute Oregon Health and Science University Portland OR USA. amanda.lund@***. Department of Pathology NYU Grossman School of Medicine New York University Langone Health New York NY USA. amanda.lund@***. Laura and Isaac Perlmutter Cancer Center NYU Grossman School of Medicine New York University Langone Health New York NY USA. amanda.lund@***.

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The European Reference Genome Atlas: piloting a decentralised approach to equitable biodiversity genomics

NPJ Biodiversity

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NPJ Biodiversity 2024年第1期3卷 28页

作者： Mc Cartney, Ann M. Formenti, Giulio Mouton, Alice De Panis, Diego Marins, Luísa S. Leitão, Henrique G. Diedericks, Genevieve Kirangwa, Joseph Morselli, Marco Salces-Ortiz, Judit Escudero, Nuria Iannucci, Alessio Natali, Chiara Svardal, Hannes Fernández, Rosa De Pooter, Tim Joris, Geert Strazisar, Mojca Wood, Jonathan M. D. Herron, Katie E. Seehausen, Ole Watts, Phillip C. Shaw, Felix Davey, Robert P. Minotto, Alice Fernández, José M. Böhne, Astrid Alegria, Carla Alioto, Tyler Alves, Paulo C. Amorim, Isabel R. Aury, Jean-Marc Backstrom, Niclas Baldrian, Petr Baltrunaite, Laima Barta, Endre Bedhom, Bertrand Belser, Caroline Bergsten, Johannes Bertrand, Laurie Bilandija, Helena Binzer-Panchal, Mahesh Bista, Iliana Blaxter, Mark Borges, Paulo A. V. Dias, Guilherme Borges Bosse, Mirte Brown, Tom Bruggmann, Rémy Buena-Atienza, Elena Burgin, Josephine Buzan, Elena Cariani, Alessia Casadei, Nicolas Chiara, Matteo Chozas, Sergio Jr, Fedor Čiampor Crottini, Angelica Cruaud, Corinne Cruz, Fernando Dalen, Love Biase, Alessiode Delcampo, Javier Delic, Teo Dennis, Aliceb. Derks, Martijn F. L. Diroma, Maria Angela Djan, Mihajla Duprat, Simone Eleftheriadi, Klara Feulner, Philine G. D. Flot, Jean-François Forni, Giobbe Fosso, Bruno Fournier, Pascal Fournier-Chambrillon, Christine Gabaldon, Toni Garg, Shilpa Gissi, Carmela Giupponi, Luca Gomez-Garrido, Jessica González, Josefa Grilo, Miguel L. Grüning, Björn Guerin, Thomas Guiglielmoni, Nadege Gut, Marta Haesler, Marcel P. Hahn, Christoph Halpern, Balint Harrison, Peter W. Heintz, Julia Hindrikson, Maris Höglund, Jacob Howe, Kerstin Hughes, Graham M. Istace, Benjamin Cock, Mark J. Janžekovič, Franc Jonsson, Zophonias O. Joye-Dind, Sagane Koskimäki, Janne J. Krystufek, Boris Kubacka, Justyna Kuhl, Heiner Kusza, Szilvia Labadie, Karine Lähteenaro, Meri Lantz, Henrik Lavrinienko, Anton Leclère, Lucas Lopes, Ricardo Jorge Madsen, Ole Magdelenat, Ghislaine Magoga, Giulia Manousaki, Tereza Mappes, Tapio Marques, Joao Pedro Redondo, Gemma I. Martinez Maumus, Florian McCarthy, Shane A. M Genomics Institute University of California SantaCruz CA United States TheVertebrate Genome Laboratory The Rockefeller University NewYork NY United States Department of Biology University of Florence Sesto Fiorentino Italy InBios-Conservation Genetics Laboratory University of Liege Liege Belgium Leibniz Institut für Zoo und Wildtierforschung Berlin Germany Berlin Center for Genomics in Biodiversity Research Berlin Germany Department of Biology University of Antwerp Antwerp Belgium Institute of Zoology University of Cologne Cologne Germany Department of Chemistry Life Sciences and Environmental Sustainability University of Parma Parma Italy Institute of Evolutionary Biology (CSIC-Universitat Pompeu Fabra Barcelona Spain Naturalis Biodiversity Center Leiden Netherlands Neuromics Support Facility VIB Center for Molecular Neurology VIB Antwerp Belgium Neuromics Support Facility Department of Biomedical SciencesUniversity ofAntwerp Antwerp Belgium Tree of Life WellcomeSanger Institute Cambridge Hinxton United Kingdom School of Biology and Environmental Science University College Dublin Belfield Ireland Aquatic Ecology & Evolution Institute of Ecology & Evolution University of Bern Bern Switzerland Department of Fish Ecology & Evolution Eawag Kastanienbaum Switzerland Department of Biological and Environmental Science University of Jyvaskyla Jyvaskyla Finland The EarlhamInstitute NorwichResearchPark Norwich United Kingdom Digital Science London United Kingdom Barcelona Supercomputing Center Spanish National Bioinformatics Institute ELIXIR Spain Getafe Spain Leibniz Institute for the Analysis of Biodiversity Change Museum Koenig Bonn Bonn Germany CE3C—Centre for Ecology Evolution and Environmental Changes & CHANGE—Global Change and Sustainability Institute Faculdade de Ciências Universidade de Lisboa Campo Grande Lisboa Portugal Centro Nacional de Análisis Genómico (CNAG) Barcelona Spain Universitat de Barcelona (UB) Barcelona Spain CIBIO Cen

A genomic database of all Earth’s eukaryotic species could contribute to many scientific discoveries;however, only a tiny fraction of species have genomic information available. In 2018, scientists across the world united under the Earth BioGenome Project (EBP), aiming to produce a database of highquality reference genomes containing all ~1.5 million recognized eukaryotic species. As the European node of the EBP, the European Reference Genome Atlas (ERGA) sought to implement a new decentralised, equitable and inclusive model for producing reference genomes. For this, ERGA launched a Pilot Project establishing the first distributed reference genome production infrastructure and testing it on 98 eukaryotic species from 33 European countries. Here we outline the infrastructure and explore its effectiveness for scaling high-quality reference genome production, whilst considering equity and inclusion. The outcomes and lessons learned provide a solid foundation for ERGA while offering key learnings to other transnational, national genomic resource projects and the EBP. © The Author(s) 2024, corrected publication 2024.

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Author Correction: The Rho GTPase Rnd1 suppresses mammary tumorigenesis and EMT by restraining Ras-MAPK signalling

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Nature cell biology 2019年第4期21卷 534页

作者： Tomoyo Okada Surajit Sinha Ilaria Esposito Gaia Schiavon Miguel A López-Lago Wenjing Su Christine A Pratilas Cristina Abele Jonathan M Hernandez Masahiro Ohara Morihito Okada Agnes Viale Adriana Heguy Nicholas D Socci Anna Sapino Venkatraman E Seshan Stephen Long Giorgio Inghirami Neal Rosen Filippo G Giancotti Cell Biology Program Sloan-Kettering Institute for Cancer Research Memorial Sloan-Kettering Cancer Center New York New York 10065 USA. Department of Surgery Memorial Sloan-Kettering Cancer Center New York 10065 USA. Breast Unit Royal Marsden Hospital London SW3 6JJ UK. Department of Surgery and Center for Cell Engineering Memorial Sloan-Kettering Cancer Center New York 10065 USA. Molecular Pharmacology and Chemistry Program Sloan-Kettering Institute for Cancer Research Memorial Sloan-Kettering Cancer Center New York New York 10065 USA. Department of Pediatrics Memorial Hospital Memorial Sloan-Kettering Cancer Center New York New York 10065 USA. The Sidney Kimmel Comprehensive Cancer Center Johns Hopkins University School of Medicine Baltimore Maryland 21287 USA. Department of Biomedical Sciences and Human Oncology Center of Experimental Medicine and Research University of Torino Torino 10126 Italy. Department of Surgery Memorial Hospital Memorial Sloan-Kettering Cancer Center New York New York 10065 USA. Department of Surgical Oncology Research Institute for Radiation Biology and Medicine Graduate School of Biomedical Sciences Hiroshima University Hiroshima 734-8551 Japan. Genomics Core Facility Memorial Sloan-Kettering Cancer Center New York New York 10065 USA. Geoffrey Beene Translational Oncology Core Facility Memorial Sloan-Kettering Cancer Center New York New York 10065 USA. Department of Pathology Office for Collaborative Science New York University New York 10016 USA. Bioinformatics Core Facility Memorial Sloan-Kettering Cancer Center New York New York 10065 USA. Department of Medical Sciences Center of Experimental Medicine and Research University of Torino Torino 10126 Italy. Department of Epidemiology and Biostatistics Memorial Hospital Memorial Sloan-Kettering Cancer Center New York New York 10065 USA. Structural Biology Program Sloan-Kettering Institute for Cancer Research Memorial Sloan-Kettering Cancer Center New Y

In the version of this Article originally published the same blot was inadvertently presented as both p-Rb and Cyclin A in Fig. 2a. This blot corresponds to the p-Rb panel, as can be seen in the unprocessed version of these blots in Supplementary Fig. 9. The corrected version of the panel is shown below, together with a completely uncropped image of both blots. In addition, in the 'Viral transduction' section of the Methods, the pLKO.1 plasmids encoding short hairpin RNAs targeting human Rnd1 were incorrectly listed as clones TRCN0000018338 and TRCN0000039977. The correct clone numbers are TRCN0000047434 and TRCN0000047435.

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Methods for Evaluating Medical Tests and Biomarkers

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Diagnostic and Prognostic Research 2017年第1期1卷 1-34页

作者： Gowri Gopalakrishna Miranda Langendam Patrick Bossuyt Mariska Leeflang Rob Scholten Anna Noel-Storr James Thomas Iain Marshall Byron Wallace Penny Whiting Clare Davenport Gowri GopalaKrishna Isabel de Salis Sue Mallett Robert Wolff Marie Westwood Jos Kleinen Richard Riley Gary Collins Hans Reitsma Karel Moons Antonia Zapf Katharina Kramer Annika Hoyer Oliver Kuss J. Ensor R. D. Riley J. J. Deeks E. C. Martin Gerta Rücker Martin Schumacher Susanne Steinhauser Joie Ensor Kym Snell Brian Willis Jon Deeks Thomas Debray Lavinia Ferrante di Ruffano Sian Taylor-Phillips Chris Hyde Stuart A. Taylor Gauraang Batnagar Lavinia Ferrante Di Ruffano Farah Seedat Aileen Clarke Sarah Byron Frances Nixon Rebecca Albrow Thomas Walker Carla Deakin Zhivko Zhelev Harriet Hunt Yaling Yang Lucy Abel James Buchanan Thomas Fanshawe Bethany Shinkins Laure Wynants Sabine Van Huffel Jan Verbakel Dirk Timmerman Ben Van Calster Aeliko Zwinderman Jason Oke Jack O’Sullivan Rafael Perera Brian Nicholson Hannah L. Bromley Tracy E. Roberts Adele Francis Denniis Petrie G. Bruce Mann Kinga Malottki Holly Smith Lucinda Billingham Alice Sitch Oke Gerke Mie Holm-Vilstrup Eivind Antonsen Segtnan Ulrich Halekoh Poul Flemming Høilund-Carlsen Bernard G. Francq Jac Dinnes Julie Parkes Walter Gregory Jenny Hewison Peter Selby Doug Altman William Rosenberg Julien Asselineau Paul Perez Aïssatou Paye Emilie Bessede Cécile Proust-Lima Christiana Naaktgeboren Joris de Groot Johannes Reitsma Anne Rutjes Emmanuel Ogundimu Jonathan Cook Yannick Le Manach Yvonne Vergouwe Romin Pajouheshnia Rolf Groenwold Karen Moons Linda Peelen Bavo De Cock Daan Nieboer Ewout W. Steyerberg Micael J. Pencina Jennifer Cooper Nick Parsons Chris Stinton Steve Smith Andy Dickens Rachel Jordan Alexandra Enocson David Fitzmaurice Peymane Adab Charles Boachie Gaj Vidmar Karoline Freeman Martin Connock Rachel Court Carl Moons Jessica Harris Zoe Plummer Barnaby Reeves Chris Rogers Andrew Mumford Kurtis Lee Veerle Verheyden Gianni D. Angelini Gavin J. Murphy Jeremy Huddy Melody Ni George Hanna Department of Clinical Epidemiology Biostatistics & Bioinformatics Academic Medical Center University of Amsterdam Amsterdam The Netherlands Department of Clinical Epidemiology and Biostatistics Academic Medical Center University of Amsterdam Amsterdam Netherlands Cochrane Netherlands Julius Center for Health Sciences and Primary Care University Medical Center Utrecht Utrecht Netherlands Cochrane Dementia and Cognitive Improvement Group University of Oxford Oxford UK EPPI-Centre Department of Social Science University College London London UK Division of Health and Social Care Research King’s College London London UK College of Computer and Information Science Northeastern University Boston USA University Hospitals Bristol NHS Foundation Trust School of Social and Community Medicine Bristol UK Institute of Applied Health Research University of Birmingham Birmingham UK School of Social and Community Medicine University of Bristol Bristol UK Kleijnen Systematic Reviews Ltd York UK Research Institute for Primary Care and Health Sciences Keele University Keele UK Centre for Statistics in Medicine Nuffield Department of Orthopaedics Rheumatology and Musculoskeletal Sciences University of Oxford Oxford UK Julius Center for Health Sciences and Primary Care University Medical Center Utrecht Utrecht The Netherlands Cochrane Netherlands University Medical Center Utrecht Utrecht The Netherlands Julius Center for Health Sciences and Primary Care University Medical Center Utrecht 3584 CG Utrecht Netherlands Department of Medical Statistics University Medical Center Göttingen Göttingen Germany Institute for Biometry and Epidemiology German Diabetes Center Leibniz Institute for Diabetes Research at Heinrich Heine University Düsseldorf Germany Manchester Pharmacy School University of Manchester Manchester UK Institute for Medical Biometry and Statistics Faculty of Medicine and Medical Center – University of Freiburg Stefan-Meier-Str. 26 79104 Freiburg Germany

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Author Correction: Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

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Nature communications 2020年第1期11卷 6232页

作者： Matthew H Bailey William U Meyerson Lewis Jonathan Dursi Liang-Bo Wang Guanlan Dong Wen-Wei Liang Amila Weerasinghe Shantao Li Yize Li Sean Kelso Gordon Saksena Kyle Ellrott Michael C Wendl David A Wheeler Gad Getz Jared T Simpson Mark B Gerstein Li Ding The McDonnell Genome Institute at Washington University St. Louis MO 63108 USA. Division of Oncology Department of Medicine Washington University School of Medicine St. Louis MO 63108 USA. Alvin J. Siteman Cancer Center Washington University School of Medicine St. Louis MO 63108 USA. Yale School of Medicine Yale University New Haven CT 06520 USA. Program in Computational Biology and Bioinformatics Yale University New Haven CT 06520 USA. Computational Biology Program Ontario Institute for Cancer Research Toronto ON M5G 0A3 Canada. The Hospital for Sick Children Toronto ON M5G 1X8 Canada. Broad Institute of MIT and Harvard Cambridge MA 02142 USA. Biomedical Engineering Oregon Health and Science University Portland OR 97239 USA. Department of Mathematics Washington University in St. Louis St. Louis MO 63130 USA. Department of Genetics Washington University School of Medicine St.Louis MO 63110 USA. Human Genome Sequencing Center Baylor College of Medicine Houston TX 77030 USA. Department of Molecular and Human Genetics Baylor College of Medicine Houston TX 77030 USA. Harvard Medical School Boston MA 02115 USA. Center for Cancer Research Massachusetts General Hospital Boston MA 02114 USA. Department of Pathology Massachusetts General Hospital Boston MA 02114 USA. Department of Computer Science University of Toronto Toronto ON M5S Canada. Program in Computational Biology and Bioinformatics Yale University New Haven CT 06520 USA. mark.gerstein@yale.edu. Department of Computer Science Yale University New Haven CT 06520 USA. mark.gerstein@yale.edu. Department of Molecular Biophysics and Biochemistry Yale University New Haven CT 06520 USA. mark.gerstein@yale.edu. The McDonnell Genome Institute at Washington University St. Louis MO 63108 USA. lding@wustl.edu. Division of Oncology Department of Medicine Washington University School of Medicine St. Louis MO 63108 USA. lding@wustl.edu. Alvin J. Siteman Cancer Center Wash

Correction to this paper has been published: https://***/10.1038/s41467-020-20128-w.

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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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Addendum: Shear-induced Notch-Cx37-p27 axis arrests endothelial cell cycle to enable arterial specification

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Nature communications 2018年第1期9卷 720页

作者： Jennifer S Fang Brian G Coon Noelle Gillis Zehua Chen Jingyao Qiu Thomas W Chittenden Janis M Burt Martin A Schwartz Karen K Hirschi Department of Medicine Yale University School of Medicine 333 Cedar Street New Haven CT 06520 USA. Yale Cardiovascular Research Center Yale University School of Medicine 333 Cedar Street New Haven CT 06520 USA. Vascular Biology and Therapeutics Program Yale University School of Medicine 333 Cedar Street New Haven CT 06520 USA. Yale Stem Cell Center Yale University School of Medicine 333 Cedar Street New Haven CT 06520 USA. Computational Statistics and Bioinformatics Group Advanced Artificial Intelligence Research Laboratory WuXi NextCODE 55 Cambridge Parkway 8th Floor Cambridge MA 02142 USA. Department of Genetics Yale University School of Medicine 333 Cedar Street New Haven CT 06520 USA. Division of Genetics and Genomics Boston Children's Hospital Harvard Medical School A-111 25 Shattuck Street Boston MA 02115 USA. Department of Biological Engineering Massachusetts Institute of Technology 21 Ames Street #56-651 Cambridge MA 02142 USA. Department of Physiology College of Medicine The University of Arizona 1501 N. Campbell Road Tucson AZ 85724 USA. Department of Cell Biology Yale University School of Medicine 333 Cedar Street New Haven CT 06520 USA. Department of Biomedical Engineering Yale University School of Medicine 333 Cedar Street New Haven CT 06520 USA. Department of Medicine Yale University School of Medicine 333 Cedar Street New Haven CT 06520 USA. karen.hirschi@yale.edu. Yale Cardiovascular Research Center Yale University School of Medicine 333 Cedar Street New Haven CT 06520 USA. karen.hirschi@yale.edu. Vascular Biology and Therapeutics Program Yale University School of Medicine 333 Cedar Street New Haven CT 06520 USA. karen.hirschi@yale.edu. Yale Stem Cell Center Yale University School of Medicine 333 Cedar Street New Haven CT 06520 USA. karen.hirschi@yale.edu. Department of Genetics Yale University School of Medicine 333 Cedar Street New Haven CT 06520 USA. karen.hirschi@yale.edu. Department of Biomedic

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