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Author Correction: Aplp1 interacts with Lag3 to facilitate transmission of pathologic α-synuclein

Nature communications 2024年第1期15卷 6413页

作者： Xiaobo Mao Hao Gu Donghoon Kim Yasuyoshi Kimura Ning Wang Enquan Xu Ramhari Kumbhar Xiaotian Ming Haibo Wang Chan Chen Shengnan Zhang Chunyu Jia Yuqing Liu Hetao Bian Senthilkumar S Karuppagounder Fatih Akkentli Qi Chen Longgang Jia Heehong Hwang Su Hyun Lee Xiyu Ke Michael Chang Amanda Li Jun Yang Cyrus Rastegar Manjari Sriparna Preston Ge Saurav Brahmachari Sangjune Kim Shu Zhang Yasushi Shimoda Martina Saar Haiqing Liu Sin Ho Kweon Mingyao Ying Creg J Workman Dario A A Vignali Ulrike C Muller Cong Liu Han Seok Ko Valina L Dawson Ted M Dawson Neuroregeneration and Stem Cell Programs Institute for Cell Engineering Johns Hopkins University School of Medicine Baltimore MD 21205 USA. xmao4@jhmi.edu. Department of Neurology Johns Hopkins University School of Medicine Baltimore MD 21205 USA. xmao4@jhmi.edu. Adrienne Helis Malvin Medical Research Foundation New Orleans LA 70130-2685 USA. xmao4@jhmi.edu. Neuroregeneration and Stem Cell Programs Institute for Cell Engineering Johns Hopkins University School of Medicine Baltimore MD 21205 USA. Department of Neurology Johns Hopkins University School of Medicine Baltimore MD 21205 USA. Department of Neurology Nanjing Brain Hospital Nanjing Jiangsu 210029 PR China. Medical College Yangzhou University Yangzhou Jiangsu 225001 PR China. Department of Pharmacology College of Medicine Dong-A University 32 Daesin Gongwwon-ro Seo-gu Busan 49201 Republic of Korea. Adrienne Helis Malvin Medical Research Foundation New Orleans LA 70130-2685 USA. Department of Anesthesiology West China Hospital Sichuan University. The Research Units of West China (2018RU012)-Chinese Academy of Medical Sciences West China Hospital Sichuan University Chengdu Sichuan 610041 PR China. Interdisciplinary Research Center on Biology and Chemistry Shanghai Institute of Organic Chemistry Chinese Academy of Sciences 26 Qiuyue Road Shanghai 201210 China. University of the Chinese Academy of Sciences 19 A Yuquan Road Shijingshan District Beijing 100049 China. Institute for NanoBioTechnology Johns Hopkins University Baltimore MD 21218 USA. Department of Materials Science and Engineering Whiting School of Engineering Johns Hopkins University Baltimore MD 21218 USA. Department of Brain and Cognitive Sciences Massachusetts Institute of Technology Cambridge MA 02139 USA. Picower Institute for Learning and Memory Cambridge MA 02139 USA. Harvard-MIT MD/PhD Program Harvard Medical School Boston MA 02115 USA. Department of Biological Science and Biotechnology Chungbuk Nati

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159TiP TROPION-Breast04: Phase (ph) III study of neoadjuvant (neoadj) datopotamab deruxtecan (Dato-DXd) + durvalumab (D) followed by adjuvant (adj) D vs standard of care (SoC) in treatment-naïve, triple-negative (TN) and HR-low/HER2- breast cancer (BC)

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ESMO Open 2024年 9卷 103146-103146页

作者： S. Loibl S.M. Tolaney P. Schmid B. Pistilli R.A. Dent J. Asselah Q. Liu J.L. Meisel N. Niikura Y.H. Park G. Werutsky G. Bianchini J.C. Andersen R. Kozarski N. Rokutanda H.L. McArthur Department of Medicine and Research German Breast Group Neu-Isenburg Germany Department of Medical Oncology Dana-Farber Cancer Institute Boston MA USA Barts Cancer Institute Queen Mary University of London London UK Department of Medical Oncology Gustave Roussy Cancer Center Villejuif France Department of Medical Oncology National Cancer Center Singapore Singapore Gerald Bronfman Department of Oncology McGill University Health Centre Cedars Cancer Centre Montreal QC Canada Breast Tumor Center Sun Yat-sen Memorial Hospital Sun Yat-sen University Guangzhou China Winship Cancer Institute Emory University Atlanta GA USA Department of Breast Oncology Tokai University School of Medicine Kanagawa Japan Samsung Medical Center Sungkyunkwan University School of Medicine/Samsung Advanced Institute for Health Sciences & Technology Sungkyunkwan University Seoul Republic of Korea Hospital Moinhos de Vento Breast Cancer Program Porto Alegre Brazil Department of Medical Oncology IRCCS Ospedale San Raffaele Milan Italy Medical Oncology Compass Oncology/Sarah Cannon Research Institute Portland OR USA Biostatistics AstraZeneca Cambridge UK Oncology R&D AstraZeneca Gaithersburg MD USA Department of Medicine Harold C. Simmons Comprehensive Cancer Center UT Southwestern Medical Center Dallas TX USA

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Standards of Care for the health of Transgender and Gender Diverse People, Version 8 (vol 23, pg S1, 2022)

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INTERNATIONAL JOURNAL OF TRANSGENDER health 2022年第Suppl 1期23卷 S259-S261页

作者： Coleman, E. Radix, A. E. Bouman, W. P. Brown, G. R. de Vries, A. L. C. Deutsch, M. B. Ettner, R. Fraser, L. Goodman, M. Green, J. Hancock, A. B. Johnson, T. W. Karasic, D. H. Knudson, G. A. Leibowitz, S. F. Meyer-Bahlburg, H. F. L. Monstrey, S. J. Motmans, J. Nahata, L. Arcelus, J. Institute for Sexual and Gender Health Department of Family Medicine and Community Health University of Minnesota Medical School Minneapolis MN USA Callen-Lorde Community Health Center New York NY USA Department of Medicine NYU Grossman School of Medicine New York NY USA Nottingham Centre for Transgender Health Nottingham UK School of Medicine University of Nottingham Nottingham UK James H. Quillen College of Medicine East Tennessee State University Johnson City TN USA James H. Quillen VAMC Johnson City TN USA Department of Child and Adolescent Psychiatry Amsterdam UMC Location Vrije Universiteit Amsterdam Amsterdam Netherlands Center of Expertise on Gender Dysphoria Amsterdam UMC Location Vrije Universiteit Amsterdam Amsterdam The Netherlands Department of Family & Community Medicine University of California-San Francisco San Francisco CA USA UCSF Gender Affirming Health Program San Francisco CA USA New Health Foundation Worldwide Evanston IL USA Weiss Memorial Hospital Chicago IL USA Independent Practice San Francisco CA USA Emory University Rollins School of Public Health Atlanta GA USA Independent Scholar Vancouver WA USA The George Washington University Washington DC USA Department of Anthropology California State University Chico CA USA University of California San Francisco San Francisco CA USA Independent Practice at *** University of British Columbia Vancouver Canada Vancouver Coastal Health Vancouver Canada Ann & Robert H. Lurie Children's Hospital of Chicago Chicago IL USA New York State Psychiatric Institute New York NY USA Department of Psychiatry Columbia University New York NY USA Ghent University Hospital Gent Belgium Transgender Infopunt Ghent University Hospital Gent Belgium Centre for Research on Culture and Gender Ghent University Gent Belgium Department of Pediatrics The Ohio State University College of Medicine Columbus OH USA Endocrinology and Center for Biobehavioral Health The Abigail Wexner Research

Background: Transgender healthcare is a rapidly evolving interdisciplinary field. In the last decade, there has been an unprecedented increase in the number and visibility of transgender and gender diverse (TGD) people seeking support and gender-affirming medical treatment in parallel with a significant rise in the scientific literature in this area. The World Professional Association for Transgender health (WPATH) is an international, multidisciplinary, professional association whose mission is to promote evidence-based care, education, research, public policy, and respect in transgender health. One of the main functions of WPATH is to promote the highest standards of health care for TGD people through the Standards of Care (SOC). The SOC was initially developed in 1979 and the last version (SOC-7) was published in 2012. In view of the increasing scientific evidence, WPATH commissioned a new version of the Standards of Care, the SOC-8. Aim: The overall goal of SOC-8 is to provide health care professionals (HCPs) with clinical guidance to assist TGD people in accessing safe and effective pathways to achieving lasting personal comfort with their gendered selves with the aim of optimizing their overall physical health, psychological well-being, and self-fulfillment. Methods: The SOC-8 is based on the best available science and expert professional consensus in transgender health. International professionals and stakeholders were selected to serve on the SOC-8 committee. Recommendation statements were developed based on data derived from independent systematic literature reviews, where available, background reviews and expert opinions. Grading of recommendations was based on the available evidence supporting interventions, a discussion of risks and harms, as well as the feasibility and acceptability within different contexts and country settings. Results: A total of 18 chapters were developed as part of the SOC-8. They contain recommendations for health care professiona

关键词： adolescents assessment children communication education endocrinology eunuch gender diverse health care professional institutional settings intersex mental health nonbinary population postoperative care primary care reproductive health sexual health SOC8 Standards of Care surgery terminology transgender voice

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Genome-wide association study of long COVID

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Nature Genetics 2025年 1-16页

作者： Lammi, Vilma Nakanishi, Tomoko Jones, Samuel E. Andrews, Shea J. Karjalainen, Juha Cortés, Beatriz O’Brien, Heath E. Ochoa-Guzman, Ana Fulton-Howard, Brian E. Broberg, Martin Haapaniemi, Hele H. Kanai, Masahiro Pirinen, Matti Schmidt, Axel Mitchell, Ruth E. Mousas, Abdou Mangino, Massimo Huerta-Chagoya, Alicia Sinnott-Armstrong, Nasa Cirulli, Elizabeth T. Vaudel, Marc Kwong, Alex S. F. Maiti, Amit K. Marttila, Minttu M. Posner, Daniel C. Rodriguez, Alexis A. Batini, Chiara Minnai, Francesca Dearman, Anna R. Warmerdam, C. A. Robert Sequeros, Celia B. Winkler, Thomas W. Jordan, Daniel M. Rešcenko, Raimonds Miano, Lorenzo Lane, Jacqueline M. Chung, Ryan K. Guillen-Guio, Beatriz Leavy, Olivia C. Carvajal-Silva, Laura Aguilar-Valdés, Kevin Frangione, Erika Guare, Lindsay Vergasova, Ekaterina Marouli, Eirini Striano, Pasquale Zainulabid, Ummu Afeera Kumar, Ashutosh Ahmad, Hajar Fauzan Edahiro, Ryuya Azekawa, Shuhei Maj, Carlo Pensel, Max C. Miller, Abigail Nöthen, Markus M. Behzad, Pari Schultz, Sonja Heggemann, Julia Balla, Daniella Morrison, David R. Mooser, Vincent Perley, Danielle Ragoussis, Jiannis Rousseau, Simon Shi, Fangyi Lathrop, G. Mark Yanishevsky, Solomia Laurent, Laetitia Auld, Daniel Bertrand, Mylene Boisclair, Ariane Bourque, Guillaume Bujold, David Durand, Madeleine Adra, Darin St-Cyr, Janick Niemi, Mari E. K. Iyengar, Sudha K. Cai, Tianxi Cho, Kelly Sarvadhavabhatla, Sannidhi Donaire, Maria Sophia Valenzuela-Jorquera, Héctor Lamoza, Eduardo Arévalo, Tamara V. Retamales-Ortega, Rocío Sanhueza, Sergio Selman, Carolina S. Silva, Andrea X. Alarcon, Teresa A. Martínez, Matías F. Quiroga, Romina Zuñiga-Pacheco, Paula Zapata-Contreras, Daniela Yáñez, Cristian E. Quiñones, Luis A. Tobar-Calfucoy, Eduardo A. Monardes-Ramírez, Virginia A. Signore, Iskra A. Guajardo, Lissette G. Figueroa, Alvaro Oróstica, Karen Y. Muñoz, Christian A. Fuentes-Guajardo, Macarena Bocchieri, Pamela Cabrera, Camilo Echeverria, Cesar A. Cerpa, Leslie C. Donoso, Gerardo Gutiérrez-Richards, Scarlett Nova-Lamperti, Estefania Saez Hidalgo Institute for Molecular Medicine Finland (FIMM) Helsinki Institute of Life Science (HiLIFE) University of Helsinki Helsinki Finland Department of Human Genetics McGill University Montreal QC Canada Centre for Clinical Epidemiology Department of Medicine Lady Davis Institute Jewish General Hospital McGill University Montreal QC Canada Kyoto-McGill International Collaborative Program in Genomic Medicine Graduate School of Medicine Kyoto University Kyoto Japan Department of Genome Informatics Graduate School of Medicine the University of Tokyo Tokyo Japan Research Fellow Japan Society for the Promotion of Science Tokyo Japan Department of Psychiatry and Behavioral Sciences University of California San Francisco San Francisco CA United States Program in Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA United States Stanley Center for Psychiatric Research Broad Institute of Harvard and MIT Cambridge MA United States Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA United States Genomes for Life-GCAT Lab CORE Program Germans Trias i Pujol Research Institute (IGTP) Badalona Spain Grup de REcerca en Impacte de les Malalties Cròniques i les seves Trajectòries (GRIMTra) Barcelona Spain Sano Genetics Limited London United Kingdom Unidad de Biología Molecular y Medicina Genómica Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán Mexico City Mexico Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York City NY United States Broad Institute Cambridge MA United States Analytical and Translational Genetics Unit Massachusetts General Hospital Harvard Medical School Boston MA United States Department of Mathematics and Statistics University of Helsinki Helsinki Finland Department of Public Health University of Helsinki Helsinki Finland Institute of Human Genetics University of Bonn School of Medicine and University Hospital Bonn Bonn Germany MRC Integrat

Infections can lead to persistent symptoms and diseases such as shingles after varicella zoster or rheumatic fever after streptococcal infections. Similarly, severe acute respiratory syndrome coronavirus 2 (SARS‑CoV‑2) infection can result in long coronavirus disease (COVID), typically manifesting as fatigue, pulmonary symptoms and cognitive dysfunction. The biological mechanisms behind long COVID remain unclear. We performed a genome-wide association study for long COVID including up to 6,450 long COVID cases and 1,093,995 population controls from 24 studies across 16 countries. We discovered an association of FOXP4 with long COVID, independent of its previously identified association with severe COVID-19. The signal was replicated in 9,500 long COVID cases and 798,835 population controls. Given the transcription factor FOXP4’s role in lung physiology and pathology, our findings highlight the importance of lung function in the pathophysiology of long COVID. © The Author(s) 2025.

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Pathologist-like explainable AI for interpretable Gleason grading in prostate cancer

arXiv

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arXiv 2024年

作者： Mittmann, Gesa Laiouar-Pedari, Sara Mehrtens, Hendrik A. Haggenmüller, Sarah Bucher, Tabea-Clara Chanda, Tirtha Gaisa, Nadine T. Wagner, Mathias Klamminger, Gilbert Georg Rau, Tilman T. Neppl, Christina Compérat, Eva Maria Gocht, Andreas Hämmerle, Monika Rupp, Niels J. Westhoff, Jula Krücken, Irene Seidl, Maximillian Schürch, Christian M. Bauer, Marcus Solass, Wiebke Tam, Yu Chun Weber, Florian Grobholz, Rainer Augustyniak, Jaroslaw Kalinski, Thomas Hörner, Christian Mertz, Kirsten D. Döring, Constanze Erbersdobler, Andreas Deubler, Gabriele Bremmer, Felix Sommer, Ulrich Brodhun, Michael Griffin, Jon Lenon, Maria Sarah L. Trpkov, Kiril Cheng, Liang Chen, Fei Levi, Angelique Cai, Guoping Nguyen, Tri Q. Amin, Ali Cimadamore, Alessia Shabaik, Ahmed Manucha, Varsha Ahmad, Nazeel Messias, Nidia Sanguedolce, Francesca Taheri, Diana Baraban, Ezra Jia, Liwei Shah, Rajal B. Siadat, Farshid Swarbrick, Nicole Park, Kyung Hassan, Oudai Sakhaie, Siamak Downes, Michelle R. Miyamoto, Hiroshi Williamson, Sean R. Holland-Letz, Tim Schneider, Carolin V. Kather, Jakob Nikolas Tolkach, Yuri Brinker, Titus J. Heidelberg Germany Medical Faculty of University Heidelberg Heidelberg Germany Institute of Pathology RWTH Aachen University Aachen Germany Institute of Pathology University Hospital University of Ulm Germany Department of Pathology University of Saarland Homburg Saar Campus Saar Homburg Germany Institute of Pathology University Hospital Düsseldorf Düsseldorf Germany Department of Pathology Medical University of Vienna Vienna Austria Institute of Pathology University Hospital Schleswig-Holstein Lübeck Germany Germany Department of Pathology and Molecular Pathology University Hospital Zurich Zurich Switzerland Institute of Pathology Städtisches Klinikum Karlsruhe Karlsruhe Germany Institute of Pathology University of Leipzig Leipzig Germany Department of Pathology University Medical Center Freiburg Freiburg Germany Department of Pathology and Neuropathology University Hospital and Comprehensive Cancer Center Tübingen Tübingen Germany "Image-Guided and Functionally Instructed Tumor Therapies" University of Tübingen Germany Institute of Pathology University Bern Bern Switzerland Institute of Pathology Georgius Agricola Foundation Ruhr Ruhr University Bochum Bochum Germany Institute of Pathology University of Regensburg Regensburg Germany Institute of Pathology Cantonal Hospital Aarau Aarau Switzerland Medical Faculty University of Zurich Zurich Switzerland Institute of Pathology Kantonsspital St Gallen St Gallen Switzerland Clinic for Pathology University Hospital Brandenburg an der Havel Brandenburg an der Havel Germany Institute for Pathology University Medical Faculty Mannheim University of Heidelberg Mannheim Germany Institute of Medical Genetics and Pathology University Hospital Basel Basel Switzerland Pathology of Infectious and Immunologic Diseases University of Basel Basel Switzerland Pathology Zwickau Diagnosticum Germany Institute of Pathology University Medicine Rostock Rostock Germany Institute of Pathology Kreiskliniken R

The aggressiveness of prostate cancer, the most common cancer in men worldwide, is primarily assessed based on histopathological data using the Gleason scoring system. While artificial intelligence (AI) has shown promise in accurately predicting Gleason scores, these predictions often lack inherent explainability, potentially leading to distrust in human-machine interactions. To address this issue, we introduce a novel dataset of 1,015 tissue microarray core images, annotated by an international group of 54 pathologists. The annotations provide detailed localized pattern descriptions for Gleason grading in line with international guidelines. Utilizing this dataset, we develop an inherently explainable AI system based on a U-Net architecture that provides predictions leveraging pathologists' terminology. This approach circumvents post-hoc explainability methods while maintaining or exceeding the performance of methods trained directly for Gleason pattern segmentation (Dice score: trained on explanations vs. trained on 0. 713 Gleason patterns). By ±0.003 0. 691±0.010 employing soft labels during training, we capture the intrinsic uncertainty in the data, yielding strong results in Gleason pattern segmentation even in the context of high interobserver variability. With the release of this dataset, we aim to encourage further research into segmentation in medical tasks with high levels of subjectivity and to advance the understanding of pathologists' reasoning processes. © 2024, CC0.

关键词： Urology

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Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals (vol 52, pg 1314, 2020)

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NATURE GENETICS 2021年第5期53卷 762-762页

作者： Surendran, Praveen Feofanova, Elena V. Lahrouchi, Najim Ntalla, Ioanna Karthikeyan, Savita Cook, James Chen, Lingyan Mifsud, Borbala Yao, Chen Kraja, Aldi T. Cartwright, James H. Hellwege, Jacklyn N. Giri, Ayush Tragante, Vinicius Thorleifsson, Gudmar Liu, Dajiang J. Prins, Bram P. Stewart, Isobel D. Cabrera, Claudia P. Eales, James M. Akbarov, Artur Auer, Paul L. Bielak, Lawrence F. Bis, Joshua C. Braithwaite, Vickie S. Brody, Jennifer A. Daw, E. Warwick Warren, Helen R. Drenos, Fotios Nielsen, Sune Fallgaard Faul, Jessica D. Fauman, Eric B. Fava, Cristiano Ferreira, Teresa Foley, Christopher N. Franceschini, Nora Gao, He Giannakopoulou, Olga Giulianini, Franco Gudbjartsson, Daniel F. Guo, Xiuqing Harris, Sarah E. Havulinna, Aki S. Helgadottir, Anna Huffman, Jennifer E. Hwang, Shih-Jen Kanoni, Stavroula Kontto, Jukka Larson, Martin G. Li-Gao, Ruifang Lindstrom, Jaana Lotta, Luca A. Lu, Yingchang Luan, Jian'an Mahajan, Anubha Malerba, Giovanni Masca, Nicholas G. D. Mei, Hao Menni, Cristina Mook-Kanamori, Dennis O. Mosen-Ansorena, David Muller-Nurasyid, Martina Pare, Guillaume Paul, Dirk S. Perola, Markus Poveda, Alaitz Rauramaa, Rainer Richard, Melissa Richardson, Tom G. Sepulveda, Nuno Sim, Xueling Smith, Albert V. Smith, Jennifer A. Staley, James R. Stanakova, Alena Sulem, Patrick Theriault, Sebastien Thorsteinsdottir, Unnur Trompet, Stella Varga, Tibor V. Velez Edwards, Digna R. Veronesi, Giovanni Weiss, Stefan Willems, Sara M. Yao, Jie Young, Robin Yu, Bing Zhang, Weihua Zhao, Jing-Hua Zhao, Wei Zhao, Wei Evangelou, Evangelos Aeschbacher, Stefanie Asllanaj, Eralda Blankenberg, Stefan Bonnycastle, Lori L. Bork-Jensen, Jette Brandslund, Ivan Braund, Peter S. Burgess, Stephen Cho, Kelly Christensen, Cramer Connell, John de Mutsert, Renee Dominiczak, Anna F. Dorr, Marcus Eiriksdottir, Gudny Farmaki, Aliki-Eleni Gaziano, J. Michael Grarup, Niels Grove, Megan L. Hallmans, Goran Hansen, Torben Have, Christian T. Heiss, Gerardo Jorgensen, Marit E. Jousilahti, Pekka Kajantie, Eero Kamat, Mihir Karajamaki, AnneMari Kar British Heart Foundation Cardiovascular Epidemiology Unit Department of Public Health and Primary Care University of Cambridge Cambridge UK British Heart Foundation Centre of Research Excellence University of Cambridge Cambridge UK Health Data Research UK Cambridge Wellcome Genome Campus and University of Cambridge Cambridge UK Rutherford Fund Fellow Department of Public Health and Primary Care University of Cambridge Cambridge UK MRC Biostatistics Unit University of Cambridge Cambridge UK National Institute for Health Research Cambridge Biomedical Research Centre University of Cambridge and Cambridge University Hospitals Cambridge UK MRC Integrative Epidemiology Unit (IEU) Population Health Sciences Bristol Medical School University of Bristol Bristol UK Robertson Centre for Biostatistics University of Glasgow Glasgow UK MRC Epidemiology Unit University of Cambridge School of Clinical Medicine Cambridge UK Department of Immunology and Inflammation Imperial College London London UK Centre for Non-communicable Disease Research (CNCR) Dhaka Bangladesh National Institute for Health Research (NIHR) Blood and Transplant Research Unit (BTRU) in Donor Health and Genomics at the University of Cambridge Cambridge UK Department of Human Genetics Wellcome Sanger Institute Wellcome Genome Campus Hinxton Cambridge UK Department of Biostatistics and Epidemiology Perelman School of Medicine University of Pennsylvania Philadelphia PA USA Center for Non-Communicable Diseases Karachi Pakistan Department of Genetics Novo Nordisk Research Centre Oxford Oxford UK Human Genetics Center Department of Epidemiology Human Genetics and Environmental Sciences School of Public Health University of Texas Health Science Center at Houston Houston TX USA Human Genome Sequencing Center Baylor College of Medicine Houston TX USA Program in Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA USA Cardiovascular Research Center Center for Genomic Medicine

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Correction: Clinical utility of combinatorial pharmacogenomic testing in depression: A Canadian patient- and rater-blinded, randomized, controlled trial

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Translational psychiatry 2022年第1期12卷 214页

作者： Arun K Tiwari Clement C Zai C Anthony Altar Julie-Anne Tanner Paige E Davies Paul Traxler James Li Elizabeth S Cogan Matthew T Kucera Ana Gugila Nicole Braganza Heather Emmerson Gwyneth Zai Daniel J Müller Robert Levitan Stefan Kloiber Zafiris J Daskalakis Benicio N Frey James M Bowen Jean-Eric Tarride Richard Tytus Ranjith Chandrasena Nicholas Voudouris Valerie H Taylor Raymond Tempier Verinder Sharma Akshya Vasudev Peter Dzongowski Lew Pliamm Todd Greenspoon Bryan M Dechairo James L Kennedy Tanenbaum Centre for Pharmacogenetics Neurogenetics Section Molecular Brain Sciences Research Department Campbell Family Mental Health Research Institute Centre for Addiction and Mental Health Toronto ON Canada. Department of Psychiatry University of Toronto Toronto ON Canada. Institute of Medical Science University of Toronto Toronto ON Canada. Laboratory Medicine and Pathobiology University of Toronto Toronto ON Canada. Splice Therapeutics 20271 Goldenrod Lane Lab 2071 Germantown MD 20876 USA. Myriad Neuroscience Mason OH USA. Myriad Genetics Salt Lake City UT USA. Campbell Family Mental Health Research Institute Centre for Addiction and Mental Health Toronto ON Canada. Department of Psychiatry UC San Diego San Diego CA USA. Mood Disorders Treatment and Research Centre and Women's Health Concerns Clinic St Joseph's Healthcare Hamilton Hamilton ON Canada. Department of Psychiatry and Behavioural Neurosciences McMaster University Hamilton ON Canada. Department of Health Research Methods Evidence and Impact Faculty of Health Sciences McMaster University Hamilton Canada. Program for Health System and Technology Evaluation Ted Rogers Centre for Heart Research at Peter Munk Cardiac Centre Toronto General Hospital Research Institute (TGHRI) Hamilton Canada. Toronto Health Economics and Technology Assessment (THETA) Collaborative University Health Network (UHN) Hamilton Canada. Department of Health Research Methods Evidence and Impact (HEI) Faculty of Health Science McMaster University Hamilton ON Canada. Programs for Assessment of Technology in Health (PATH) The Research Institute of St. Joe's Hamilton St. Joseph's Healthcare Hamilton Hamilton ON Canada. Center for Health Economics and Policy Analysis (CHEPA) McMaster University Hamilton Canada. Family Medicine McMaster University Hamilton ON Canada. Chatham-Kent Health Alliance Chatham ON Canada. Thornhill Medical Center Toronto ON Canada. Department of Psychiatry University of Calga

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Author Correction: Perspectives on ENCODE

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Nature 2022年第7909期605卷 E4页

作者： Michael P Snyder Thomas R Gingeras Jill E Moore Zhiping Weng Mark B Gerstein Bing Ren Ross C Hardison John A Stamatoyannopoulos Brenton R Graveley Elise A Feingold Michael J Pazin Michael Pagan Daniel A Gilchrist Benjamin C Hitz J Michael Cherry Bradley E Bernstein Eric M Mendenhall Daniel R Zerbino Adam Frankish Paul Flicek Richard M Myers Department of Genetics School of Medicine Stanford University Palo Alto CA USA. mpsnyder@stanford.edu. Cardiovascular Institute Stanford School of Medicine Stanford CA USA. mpsnyder@stanford.edu. Functional Genomics Cold Spring Harbor Laboratory Cold Spring Harbor NY USA. University of Massachusetts Medical School Program in Bioinformatics and Integrative Biology Worcester MA USA. Department of Thoracic Surgery Clinical Translational Research Center Shanghai Pulmonary Hospital The School of Life Sciences and Technology Tongji University Shanghai China. Bioinformatics Program Boston University Boston MA USA. Yale University New Haven CT USA. Ludwig Institute for Cancer Research University of California San Diego La Jolla CA USA. Center for Epigenomics University of California San Diego La Jolla CA USA. Department of Biochemistry and Molecular Biology The Pennsylvania State University University Park PA USA. Altius Institute for Biomedical Sciences Seattle WA USA. Department of Genome Sciences University of Washington Seattle WA USA. Department of Medicine University of Washington Seattle WA USA. Department of Genetics and Genome Sciences Institute for Systems Genomics UConn Health Farmington CT USA. National Human Genome Research Institute National Institutes of Health Bethesda MD USA. Department of Genetics School of Medicine Stanford University Palo Alto CA USA. Broad Institute and Department of Pathology Massachusetts General Hospital and Harvard Medical School Boston MA USA. Biological Sciences University of Alabama in Huntsville Huntsville AL USA. HudsonAlpha Institute for Biotechnology Huntsville AL USA. European Molecular Biology Laboratory European Bioinformatics Institute Wellcome Genome Campus Cambridge UK.

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Arenicolide Family Macrolides Provide a New Therapeutic Lead Combating Multidrug-Resistant Tuberculosis

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Angewandte Chemie 2024年第1期137卷

作者： Dr. Sunghoon Hwang Bo Eun Heo Thanh Quang Nguyen Young Jae Kim Dr. Sung-Gwon Lee Thanh-Hau Huynh Dr. Eunji Kim Dr. Shin-Il Jo Dr. Min-Jun Baek Eun-Kyung Shin Dr. Joonseok Oh Prof. Chungoo Park Prof. Yeo Joon Yoon Dr. Eun-Jin Park Kyung Tae Kim Sungweon Ryoo Da-Gyum Lee Connor Wood Minjeong Woo Prof. Dae-Duk Kim Prof. Seungwha Paik Prof. Eun-Kyeong Jo Prof. Jichan Jang Prof. Dong-Chan Oh Natural Products Research Institute College of Pharmacy Seoul National University 1 Gwanak-ro Gwanak-gu 08826 Seoul Republic of Korea Division of Life Science Department of Bio & Medical Big Data (BK21 Four Program) Research Institute of Life Science Gyeongsang National University 52828 Jinju Republic of Korea Department of Microbiology College of Medicine Chungnam National University 35015 Daejeon Republic of Korea Department of Medical Science College of Medicine Chungnam National University 35015 Daejeon Republic of Korea Section of Genetics and Physiology Laboratory of Molecular and Cellular Biology National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) National Institutes of Health (NIH) Bethesda 20892 MD USA Institute of Korean Insect Life 23 Banchuk-ro 83 beon-gil Dong-gu 22530 Incheon Republic of Korea College of Pharmacy and Research Institute of Pharmaceutical Sciences 1 Gwanak-ro Gwanak-gu 08826 Seoul Republic of Korea Institute of Biomolecular Design & Discovery and Department of Chemistry Yale University West Haven 06516 CT USA School of Biological Sciences and Technology Chonnam National University 61186 Gwangju Republic of Korea MolGenBio Co. Ltd. 08826 Seoul Republic of Korea Clinical Research Centre Masan National Tuberculosis Hospital 51755 Changwon-si Gyeongsangnam-do Republic of Korea Tuberculosis Research Laboratory Institute Pasteur Korea 13488 Seongnam-si Gyeonggi-do Republic of Korea

The emergence of multidrug-resistant (mdR) and extensively drug-resistant (XDR) strains of Mycobacterium tuberculosis (Mtb) poses a significant threat to health globally. During searching for new chemical entities regulating mdR- and XDR-Mtb, chemical investigation of the black oil beetle gut bacterium Micromonospora sp. GR10 led to the discovery of eight new members of arenicolides along with the identification of arenicolide A (Ar−A, 1 ), which was a previously reported macrolide with incomplete configuration. Genomic analysis of the bacterial strain GR10 revealed their putative biosynthetic pathway. Quantum mechanics-based computation, chemical derivatizations, and bioinformatic analysis established the absolute stereochemistry of Ar−A and arenicolides D−K (Ar−D−K, 2 – 9 ) completely for the first time. Biological studies of 1 – 9 revealed their antimicrobial activity against mdR and XDR strains of Mtb. Ar−A had the most potent in vitro antimicrobial efficacy against mdR- and XDR-Mtb. Mechanistically, Ar−A induced ATP depletion and destabilized Mtb cell wall, thereby inhibiting growth. Notably, Ar−A exerted a significant antimicrobial effect against Mtb in macrophages, was effective in the treatment of Mtb infections, and showed a synergistic effect with amikacin (AMK) in a mouse model of mdR-Mtb lung infection. Collectively, our findings indicate Ar−A to be a promising drug lead for drug-resistant tuberculosis.

关键词： tuberculosis multidrug resistance structure determination anti-tubercular mechanism natural product

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Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification

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Nature communications 2025年第1期16卷 4852页

作者： Maria Zanti Denise G O'Mahony Michael T Parsons Leila Dorling Joe Dennis Nicholas J Boddicker Wenan Chen Chunling Hu Marc Naven Kristia Yiangou Thomas U Ahearn Christine B Ambrosone Irene L Andrulis Antonis C Antoniou Paul L Auer Caroline Baynes Clara Bodelon Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Kristen D Brantley Nicola J Camp Archie Campbell Jose E Castelao Melissa H Cessna Jenny Chang-Claude Fei Chen Georgia Chenevix-Trench Don M Conroy Kamila Czene Arcangela De Nicolo Susan M Domchek Thilo Dörk Alison M Dunning A Heather Eliassen D Gareth Evans Peter A Fasching Jonine D Figueroa Henrik Flyger Manuela Gago-Dominguez Montserrat García-Closas Gord Glendon Anna González-Neira Felix Grassmann Andreas Hadjisavvas Christopher A Haiman Ute Hamann Steven N Hart Mikael B A Hartman Weang-Kee Ho James M Hodge Reiner Hoppe Sacha J Howell Anna Jakubowska Elza K Khusnutdinova Yon-Dschun Ko Peter Kraft Vessela N Kristensen James V Lacey Jingmei Li Geok Hoon Lim Sara Lindström Artitaya Lophatananon Craig Luccarini Arto Mannermaa Maria Elena Martinez Dimitrios Mavroudis Roger L Milne Kenneth Muir Katherine L Nathanson Rocio Nuñez-Torres Nadia Obi Janet E Olson Julie R Palmer Mihalis I Panayiotidis Alpa V Patel Paul D P Pharoah Eric C Polley Muhammad U Rashid Kathryn J Ruddy Emmanouil Saloustros Elinor J Sawyer Marjanka K Schmidt Melissa C Southey Veronique Kiak-Mien Tan Soo Hwang Teo Lauren R Teras Diana Torres Amy Trentham-Dietz Thérèse Truong Celine M Vachon Qin Wang Jeffrey N Weitzel Siddhartha Yadav Song Yao Gary R Zirpoli Melissa S Cline Peter Devilee Sean V Tavtigian David E Goldgar Fergus J Couch Douglas F Easton Amanda B Spurdle Kyriaki Michailidou Biostatistics Unit The Cyprus Institute of Neurology & Genetics Nicosia Cyprus. Department of Medical Genetics Oslo University Hospital Oslo Norway. Population Health Program QIMR Berghofer Medical Research Institute Brisbane Queensland Australia. Centre for Cancer Genetic Epidemiology Department of Public Health and Primary Care University of Cambridge Cambridge UK. Department of Quantitative Health Sciences Division of Computational Biology Mayo Clinic Rochester MN USA. Department of Laboratory Medicine and Pathology Mayo Clinic Rochester MN USA. Division of Cancer Epidemiology and Genetics National Cancer Institute National Institutes of Health Department of Health and Human Services Bethesda MD USA. Department of Cancer Prevention and Control Roswell Park Comprehensive Cancer Institute Buffalo NY USA. Fred A. Litwin Center for Cancer Genetics Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital Toronto Ontario Canada. Department of Molecular Genetics University of Toronto Toronto Ontario Canada. Division of Biostatistics Data Science Institute and Cancer Center Medical College of Wisconsin Milwaukee WI USA. Centre for Cancer Genetic Epidemiology Department of Oncology University of Cambridge Cambridge UK. Department of Population Science American Cancer Society Atlanta GA USA. Radiation Oncology Research Unit Hannover Medical School Hannover Germany. Copenhagen General Population Study Herlev and Gentofte Hospital Copenhagen University Hospital Herlev Denmark. Department of Clinical Biochemistry Herlev and Gentofte Hospital Copenhagen University Hospital Herlev Denmark. Faculty of Health and Medical Sciences University of Copenhagen Copenhagen Denmark. Department of Medical Oncology Dana-Farber Cancer Institute Boston MA USA. Department of Internal Medicine and Huntsman Cancer Institute University of Utah Salt Lake City UT USA. Centre for Genomic and Experimental Medicine Institute of Genetics & Cancer The University of Ed

Clinical genetic testing identifies variants causal for hereditary cancer, information that is used for risk assessment and clinical management. Unfortunately, some variants identified are of uncertain clinical significance (VUS), complicating patient management. Case-control data is one evidence type used to classify VUS. As an initiative of the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Analytical Working Group we analyze germline sequencing data of BRCA1 and BRCA2 from 96,691 female breast cancer cases and 302,116 controls from three studies: the BRIDGES study of the Breast Cancer Association Consortium, the Cancer Risk Estimates Related to Susceptibility consortium, and the UK Biobank. We observe 11,207 BRCA1 and BRCA2 variants, with 6909 being coding, covering 23.4% of BRCA1 and BRCA2 VUS in ClinVar and 19.2% of ClinVar curated (likely) benign or pathogenic variants. Case-control likelihood ratio (ccLR) evidence is highly consistent with ClinVar assertions for (likely) benign or pathogenic variants; exhibiting 99.1% sensitivity and 95.3% specificity for BRCA1 and 93.3% sensitivity and 86.6% specificity for BRCA2. This approach provides case-control evidence for 787 unclassified variants; these include 579 with strong or moderate benign evidence and 10 with strong pathogenic evidence for which ccLR evidence is sufficient to alter clinical classification.

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