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Phase I Trial of Ex Vivo Expanded Donor Gamma Delta T Cell Immunotherapy to Prevent Acute Myeloid Leukemia Relapse after Allogeneic Transplantation

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Blood 2024年 144卷 4826-4826页

作者： Nelli Bejanyan Hany Elmariah Jongphil Kim Cheryl Cox Melissa Lowden Xiaofei Song Hien Liu Bin Yu Kayla Reid Sean J. Yoder Christopher Cubitt Rawan Faramand Sayeef Mirza Farhad Khimani Lia Perez Jose L. Ochoa-Bayona Justin Boucher Jose Alejandro Guevara David Sallman Jeffrey E Lancet Marco Davila Department of Blood and Marrow Transplantation and Cellular Immunotherapy H. Lee Moffitt Cancer Center and Research Institute Tampa FL Department of Biostatistics and Bioinformatics H. Lee Moffitt Cancer Center and Research Institute Tampa FL Cell Therapy Facility Moffitt Cancer Center Tampa FL Department of Blood and Marrow Transplantation and Cellular Immunotherapy Moffitt Cancer Center Tampa FL Moffitt Cancer Center Tampa FL Immune Monitoring Core Moffitt Cancer Center Tampa FL Department of Clinical Science Moffitt Cancer Center Tampa FL Molecular Genomics Core Facility H. Lee Moffitt Cancer Center & Research Institute Tampa FL Immuno-Oncology Program Moffitt Cancer Center Tampa FL Department of Malignant Hematology H. Lee Moffitt Cancer Center and Research Institute Tampa FL Department of Malignant Hematology Moffitt Cancer Center Tampa FL Department of Medicine Roswell Park Comprehensive Cancer Center Buffalo NY

Background Patients with adverse risk acute myeloid leukemia (AML) by European LeukemiaNet (ELN) risk stratification are at high risk (~50%) of relapse after reduced-intensity conditioning (RIC) allogeneic hematopoietic cell transplantation (alloHCT). We developed a novel cellular therapy using ex vivo expanded donor-derived gamma delta T (GDT) cells to prevent post-HCT relapse and cure more patients with adverse risk AML. GDT cells that are rare in circulating blood have MHC-independent potent antitumor cytotoxicity against AML. They cause no graft-versus-host-disease (GVHD) in preclinical studies, which allows the potential for a healthy donor-derived cellular immunotherapy for AML. Methods This first-in-human trial enrolled patients with ELN adverse risk AML who received either HLA-identical sibling donor (MSD) or haploidentical donor RIC alloHCT. The same donor used for HCT underwent non-mobilized leukapheresis for large scale expansion of GDT cells with use of artificial antigen presented cells (Boucher J. Immunother. 2023). Expanded GDT cells were infused to patients between days 60-100 after alloHCT in the absence of uncontrolled infection and/or GVHD requiring systemic steroids. The trial followed a 3+3 design to study the primary endpoint of maximum-tolerated dose (MTD) of donor GDT cell infusion. Three dose levels (DL) of GDT cells were studied where DL1 was 6.25 x 10 6 cells/kg, DL2 was 3.13 x 10 7 cells/kg and DL3 was 1.10 x 10 8 cells/kg. Dose-limiting toxicities (DLT) were evaluated for 42 days following GDT cell infusion and were defined as grade 3-4 cytokine release syndrome (CRS), grade 3-4 immune effector cell-associated neurotoxicity syndrome (ICANS), or any grade 4 organ toxicity by CTCAE 5.0. Results We treated 9 patients with ELN adverse risk AML in morphological complete remission (CR), including 5 patients who had detectable measurable residual disease (MRD) prior to HCT. Median age was 63 years, and all patients received RIC alloHCT prior to

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Gene expression imputation across multiple brain regions provides insights into schizophrenia risk (vol 51, pg 659, 2019)

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NATURE GENETICS 2019年第6期51卷 1068-1068页

作者： Huckins, Laura M. Dobbyn, Amanda Ruderfer, Douglas M. Hoffman, Gabriel Wang, Weiqing Pardinas, Antonio F. Rajagopal, Veera M. Als, Thomas D. Nguyen, Hoang T. Girdhar, Kiran Boocock, James Roussos, Panos Fromer, Menachem Kramer, Robin Domenici, Enrico Gamazon, Eric R. Purcell, Shaun Demontis, Ditte Borglum, Anders D. Walters, James T. R. O'Donovan, Michael C. Sullivan, Patrick Owen, Michael J. Devlin, Bernie Sieberts, Solveig K. Cox, Nancy J. Im, Hae Kyung Sklar, Pamela Stahl, Eli A. Pamela Sklar Division of Psychiatric Genomics Icahn School of Medicine at Mount Sinai New York NY USA Department of Genetics and Genomics Icahn School of Medicine at Mount Sinai New York NY USA Department of Psychiatry Icahn School of Medicine at Mount Sinai New York NY USA Icahn Institute for Genomics and Multiscale Biology Icahn School of Medicine at Mount Sinai New York NY USA Vanderbilt University Medical Center Nashville TN USA MRC Centre for Neuropsychiatric Genetics and Genomics Cardiff University Cardiff UK Department of Biomedicine Aarhus University Aarhus Denmark The Lundbeck Foundation Initiative for Integrative Psychiatric Research iPSYCH Denmark Center for Integrative Sequencing Aarhus University Aarhus Denmark Department of Human Genetics David Geffen School of Medicine University of California Los Angeles Los Angeles CA USA Human Brain Collection Core National Institute of Mental Health Bethesda MD USA Laboratory of Neurogenomic Biomarkers Centre for Integrative Biology (CIBIO) University of Trento Trento Italy Clare Hall University of Cambridge Cambridge UK University of North Carolina at Chapel Hill Chapel Hill NC USA Karolinska Institutet Stockholm Sweden Department of Psychiatry University of Pittsburgh Pittsburgh PA USA Systems Biology Sage Bionetworks Seattle WA USA Section of Genetic Medicine Department of Medicine University of Chicago Chicago IL USA Integrated Technology Research Laboratories Pharmaceutical Research Division Takeda Pharmaceutical Company Limited Fujisawa Japan Neuropsychiatry Section Department of Psychiatry Perelman School of Medicine University of Pennsylvania Philadelphia PA USA Neuropsychiatric Signaling Program Department of Psychiatry Perelman School of Medicine University of Pennsylvania Philadelphia PA USA Psychiatry JJ Peters Virginia Medical Center Bronx NY USA Department of Neuroscience Icahn School of Medicine at Mount Sinai New York New York NY USA Friedman Brain Institute

Transcriptomic imputation approaches combine eQTL reference panels with large-scale genotype data in order to test associations between disease and gene expression. These genic associations could elucidate signals in complex genome-wide association study (GWAS) loci and may disentangle the role of different tissues in disease development. We used the largest eQTL reference panel for the dorso-lateral prefrontal cortex (DLPFC) to create a set of gene expression predictors and demonstrate their utility. We applied DLPFC and 12 GTEx-brain predictors to 40,299 schizophrenia cases and 65,264 matched controls for a large transcriptomic imputation study of schizophrenia. We identified 413 genic associations across 13 brain regions. Stepwise conditioning identified 67 non-MHC genes, of which 14 did not fall within previous GWAS loci. We identified 36 significantly enriched pathways, including hexosaminidase-A deficiency, and multiple porphyric disorder pathways. We investigated developmental expression patterns among the 67 non-MHC genes and identified specific groups of pre- and postnatal expression.

关键词： Gene expression Genome-wide association studies Schizophrenia Transcriptomics

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The mutational constraint spectrum quantified from variation in 141,456 humans (vol 581, pg 434, 2020)

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NATURE 2021年第7874期597卷 E3-E4页

作者： Gudmundsson, Sanna Karczewski, Konrad J. Francioli, Laurent C. Tiao, Grace Cummings, Beryl B. Alfoldi, Jessica Wang, Qingbo Collins, Ryan L. Laricchia, Kristen M. Ganna, Andrea Birnbaum, Daniel P. Gauthier, Laura D. Brand, Harrison Solomonson, Matthew Watts, Nicholas A. Rhodes, Daniel Singer-Berk, Moriel England, Eleina M. Seaby, Eleanor G. Kosmicki, Jack A. Walters, Raymond K. Tashman, Katherine Farjoun, Yossi Banks, Eric Poterba, Timothy Wang, Arcturus Seed, Cotton Whiffin, Nicola Chong, Jessica X. Samocha, Kaitlin E. Pierce-Hoffman, Emma Zappala, Zachary O'Donnell-Luria, Anne H. Minikel, Eric Vallabh Weisburd, Ben Lek, Monkol Ware, James S. Vittal, Christopher Armean, Irina M. Bergelson, Louis Cibulskis, Kristian Connolly, Kristen M. Covarrubias, Miguel Donnelly, Stacey Ferriera, Steven Gabriel, Stacey Gentry, Jeff Gupta, Namrata Jeandet, Thibault Kaplan, Diane Llanwarne, Christopher Munshi, Ruchi Novod, Sam Petrillo, Nikelle Roazen, David Ruano-Rubio, Valentin Saltzman, Andrea Schleicher, Molly Soto, Jose Tibbetts, Kathleen Tolonen, Charlotte Wade, Gordon Talkowski, Michael E. Neale, Benjamin M. Daly, Mark J. MacArthur, Daniel G. Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Division of Genetics and Genomics Boston Children’s Hospital Boston MA USA Program in Biological and Biomedical Sciences Harvard Medical School Boston MA USA Program in Bioinformatics and Integrative Genomics Harvard Medical School Boston MA USA Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Institute for Molecular Medicine Finland Helsinki Finland Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA USA National Heart & Lung Institute and MRC London Institute of Medical Sciences Imperial College London London UK Cardiovascular Research Centre Royal Brompton & Harefield Hospitals NHS Trust London UK Vertex Pharmaceuticals Inc Boston MA USA Department of Pediatrics Harvard Medical School Boston MA USA Broad Genomics Broad Institute of MIT and Harvard Cambridge MA USA Department of Neurology Harvard Medical School Boston MA USA Cardiac Arrhythmia Service and Cardiovascular Research Center Massachusetts General Hospital Boston MA USA Estonian Genome Center Institute of Genomics University of Tartu Tartu Estonia Data Sciences Platform Broad Institute of MIT and Harvard Cambridge MA USA Diabetes Unit Massachusetts General Hospital Boston MA USA Program in Metabolism Broad Institute of MIT and Harvard Cambridge MA USA Department of Medicine Harvard Medical School Boston MA USA Division of General Internal Medicine Massachusetts General Hospital Boston MA USA Department of Public Health Faculty of Medicine University of Helsinki Helsinki Finland Cardiovascular Disease Initiative and Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Genomics Diabetes and Endocrinology Lund University Lund Sweden Folkhälsan Institute of Genetics Folkhälsan Research C

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The repertoire of mutational signatures in human cancer (vol 578, pg 94, 2020)

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NATURE 2023年第7948期614卷 E41-E41页

作者： Alexandrov, Ludmil B. Kim, Jaegil Haradhvala, Nicholas J. Huang, Mi Ni Ng, Alvin Wei Tian Wu, Yang Boot, Arnoud Covington, Kyle R. Gordenin, Dmitry A. Bergstrom, Erik N. Islam, S. M. Ashiqul Lopez-Bigas, Nuria Klimczak, Leszek J. McPherson, John R. Morganella, Sandro Sabarinathan, Radhakrishnan Wheeler, David A. Mustonen, Ville Getz, Gad Rozen, Steven G. Stratton, Michael R. Department of Cellular and Molecular Medicine Department of Bioengineering Moores Cancer Center University of California San Diego CA USA Wellcome Sanger Institute Wellcome Genome Campus Hinxton UK Department of Cellular and Molecular Medicine and Department of Bioengineering University of California San Diego La Jolla CA USA UC San Diego Moores Cancer Center San Diego CA USA University of California San Diego San Diego CA USA Broad Institute of MIT and Harvard Cambridge MA USA Center for Cancer Research Massachusetts General Hospital Boston MA USA Massachusetts General Hospital Boston MA USA Department of Pathology Massachusetts General Hospital Boston MA USA Harvard Medical School Boston MA USA Laboratory for Medical Science Mathematics RIKEN Center for Integrative Medical Sciences Yokohama Japan Computational Biology Program Ontario Institute for Cancer Research Toronto ON Canada Programme in Cancer & Stem Cell Biology Duke-NUS Medical School Singapore Singapore Centre for Computational Biology Duke-NUS Medical School Singapore Singapore Programme in Cancer and Stem Cell Biology Duke-NUS Medical School Singapore Singapore Programme in Cancer and Stem Cell Biology Centre for Computational Biology Duke-NUS Medical School Singapore Singapore SingHealth Duke-NUS Institute of Precision Medicine National Heart Centre Singapore Singapore Singapore Cancer Science Institute of Singapore National University of Singapore Singapore Singapore Institute of Molecular and Cell Biology Singapore Singapore Laboratory of Cancer Epigenome Division of Medical Science National Cancer Centre Singapore Singapore Singapore Duke-NUS Medical School Singapore Singapore Human Genome Sequencing Center Baylor College of Medicine Houston TX USA Dan L. Duncan Cancer Center Baylor College of Medicine Houston TX USA Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA Genome Integrity and Structural Biology Laboratory National Ins

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

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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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Liquid-EM goes viral - visualizing structure and dynamics

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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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Differential regulation of JAK1 expression by ETS1 associated with predisposition to primary biliary cholangitis

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Journal of Genetics and genomics 2023年第10期50卷 807-812页

作者： Peng Jiang Chan Wang Mingming Zhang Ye Tian Weifeng Zhao Junyi Xin Yexi Huang Zhibin Zhao Wenjuan Sun Jie Long Ruqi Tang Fang Qiu Xingjuan Shi Yi Zhao Li Zhu Na Dai Lei Liu Xudong Wu Jinshan Nie Bo Jiang Youlin Shao Yueqiu Gao Jianjiang Yu Zhigang Hu Zhidong Zang Yuhua Gong Yaping Dai Lan Wang Ningling Ding Ping Xu Sufang Chen Lu Wang Jing Xu Luyao Zhang Junyan Hong Ruonan Qian Hu Li Xuan Jiang Congwei Chen Wenyan Tian Jian Wu Yuzhang Jiang Chongxu Han Kui Zhang Hong Qiu Li Li Hong Fan Liming Chen Jianqiong Zhang Zhongsheng Sun Xiao Han Zhenhua Dai Erguang Li M.Eric Gershwin Zhexiong Lian Xiong Ma Michael F.Seldin Weichang Chen Meilin Wang Xiangdong Liu Key Laboratory of Developmental Genes and Human Diseases School of Life Science and TechnologySoutheast UniversityNanjingJiangsu 210096China Institute of Translational Medicine Yangzhou University Medical CollegeYangzhouJiangsu 225009China Department of Radiology&Oncology The Second Affiliated Hospital of Soochow UniversitySuzhouJiangsu 215004China The First Affiliated Hospital of Soochow University SuzhouJiangsu 215006China Department of Bioinformatics School of Biomedical Engineering and InformaticsNanjing Medical UniversityNanjingJiangsu 210029China Author links open overlay panelYexi Huang Guangdong Provincial People's Hospital Guangdong Academy of Medical SciencesGuangzhouGuangdong 510080China Department of Gastroenterology and Hepatology Shanghai Institute of Digestive DiseasesShanghai Jiao Tong University School of Medicine Affiliated Renji HospitalShanghai 200001China Department of Laboratory Medicine The Fourth Affiliated Hospital of Nanjing Medical UniversityNanjingJiangsu 210031China Department of Gastrointestinal Endoscopy Eastern Hepatobiliary Surgery HospitalShanghai 201800China The Fifth People's Hospital Soochow UniversitySuzhouJiangsu 215007China Department of Gastroenterology Jiangsu University Affiliated Kunshan HospitalKunshanJiangsu 215300China Department of Gastroenterology Yixing People's HospitalYixinJiangsu 214200China Department of Gastroenterology Yancheng First People's HospitalYanchengJiangsu 224005China Department of Gastroenterology Taicang First People's HospitalSoochow UniversityTaicangJiangsu 215400China Department of Hepatology Jingjiang Second People's HospitalJingjiangJiangsu 214500China Department of Hepatology The Third People's Hospital of ChangzhouChangzhouJiangsu 213001China Department of Liver Diseases Shuguang HospitalShanghai University of Traditional Chinese MedicineShanghai 201203China Department of Laboratory Medicine Jiangyin People's HospitalSoutheast UniversityJiangyinJiangsu 214400China Department of Labora

Primary biliary cholangitis(PBC)is an autoimmune liver disease characterized by the destruction of intrahepatic small bile ducts and progressive cholestasis,eventually leading to liver cirrhosis and hepatic failure wi... 详细信息

关键词： cholangitis biliary

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Variant interpretation using population databases: lessons from gnomAD

arXiv

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arXiv 2021年

作者： Gudmundsson, Sanna Singer-Berk, Moriel Watts, Nicholas A. Phu, William Goodrich, Julia K. Solomonson, Matthew Rehm, Heidi L. MacArthur, Daniel G. O'Donnell-Luria, Anne Abreu, Maria Aguilar Salinas, Carlos A. Ahmad, Tariq Albert, Christine M. Alföldi, Jessica Ardissino, Diego Armean, Irina M. Atzmon, Gil Banks, Eric Barnard, John Baxter, Samantha M. Beaugerie, Laurent Benjamin, Emelia J. Benjamin, David Bergelson, Louis Boehnke, Michael Bonnycastle, Lori L. Bottinger, Erwin P. Bowden, Donald W. Bown, Matthew J. Brant, Steven Calvo, Sarah E. Campos, Hannia Chambers, John C. Chan, Juliana C. Chao, Katherine R. Chapman, Sinéad Chasman, Daniel Chisholm, Rex Cho, Judy Chowdhury, Rajiv Chung, Mina K. Chung, Wendy Cibulskis, Kristian Cohen, Bruce Collins, Ryan L. Connolly, Kristen M. Correa, Adolfo Covarrubias, Miguel Cummings, Beryl Dabelea, Dana Daly, Mark J. Danesh, John Darbar, Dawood Denny, Joshua Donnelly, Stacey Duggirala, Ravindranath Dupuis, Josée Ellinor, Patrick T. Elosua, Roberto Emery, James England, Eleina Erdmann, Jeanette Esko, Tõnu Evangelista, Emily Farjoun, Yossi Fatkin, Diane Ferriera, Steven Florez, Jose Francioli, Laurent Franke, Andre Färkkilä, Martti Gabriel, Stacey Garimella, Kiran Gauthier, Laura D. Gentry, Jeff Getz, Gad Glahn, David C. Glaser, Benjamin Glatt, Stephen J. Goldstein, David Gonzalez, Clicerio Goodrich, Julia Groop, Leif Gudmundsson, Sanna Gupta, Namrata Haessly, Andrea Haiman, Christopher Hall, Ira Hanis, Craig Harms, Matthew Hiltunen, Mikko Holi, Matti M. Hultman, Christina M. Jalas, Chaim Jeandet, Thibault Kallela, Mikko Kaplan, Diane Kaprio, Jaakko Karczewski, Konrad J. Kathiresan, Sekar Kenny, Eimear Kim, Bong-Jo Kim, Young Jin Kirov, George Kooner, Jaspal Koskinen, Seppo Krumholz, Harlan M. Kugathasan, Subra Kwak, Soo Heon Laakso, Markku Lake, Nicole Langsford, Trevyn Laricchia, Kristen M. Lehtimäki, Terho Lek, Monkol Lipscomb, Emily Llanwarne, Christopher Loos, Ruth J.F. Lubitz, Steven A. Luna, Teresa Tusie Ma, Ronald C.W. MacArthur, Daniel G. Marcus, Gregory M. Marrugat, Ja University of Miami Miller School of Medicine Gastroenterology Miami United States Unidad de Investigacion de Enfermedades Metabolicas Instituto Nacional de Ciencias Medicas y Nutricion Mexico City Mexico Peninsula College of Medicine and Dentistry Exeter United Kingdom Division of Preventive Medicine Brigham and Women's Hospital BostonMA United States Division of Cardiovascular Medicine Brigham and Women's Hospital Harvard Medical School BostonMA United States Program in Medical and Population Genetics Broad Institute of MIT and Harvard CambridgeMA United States Analytic and Translational Genetics Unit Massachusetts General Hospital BostonMA United States Department of Cardiology University Hospital Parma Italy European Molecular Biology Laboratory European Bioinformatics Institute Wellcome Genome Campus Hinxton Cambridge United Kingdom Department of Biology Faculty of Natural Sciences University of Haifa Haifa Israel Department of Medicine and Genetics Albert Einstein College of Medicine BronxNY United States Data Science Platform Broad Institute of MIT and Harvard CambridgeMA United States Department of Quantitative Health Sciences Lerner Research Institute Cleveland Clinic ClevelandOH United States Sorbonne Université APHP Gastroenterology Department Saint Antoine Hospital Paris France NHLBI Boston University's Framingham Heart Study FraminghamMA United States Department of Medicine Boston University School of Medicine BostonMA United States Department of Epidemiology Boston University School of Public Health BostonMA United States Department of Biostatistics and Center for Statistical Genetics University of Michigan Ann ArborMS United States National Human Genome Research Institute National Institutes of Health BethesdaMD United States The Charles Bronfman Institute for Personalized Medicine Icahn School of Medicine at Mount Sinai New YorkNY United States Department of Biochemistry Wake Forest School of Medicine Winston-SalemNC

Reference population databases are an essential tool in variant and gene interpretation. Their use guides the identification of pathogenic variants amidst the sea of benign variation present in every human genome, and supports the discovery of new disease-gene relationships. The Genome Aggregation Database (gnomAD) is currently the largest and most widely used publicly available collection of population variation from harmonized sequencing data. The data is available through the online gnomAD browser (https://***/) that enables rapid and intuitive variant analysis. This review provides guidance on the content of the gnomAD browser, and its usage for variant and gene interpretation. We introduce key features including allele frequency, per-base expression levels, constraint scores, and variant co-occurrence, alongside guidance on how to use these in analysis, with a focus on the interpretation of candidate variants and novel genes in rare disease. © 2021, CC BY.

关键词： Genes

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In vitro activity of imipenem/relebactam, meropenem/vaborbactam and comparators against Enterobacterales causing urinary tract infection in Taiwan: results from the Study for Monitoring Antimicrobial Resistance Trends (SMART), 2020

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International journal of antimicrobial agents 2023年第6期61卷 106815页

作者： Chih-Yen Chang Yu-Lin Lee Yu-Tsung Huang Wen-Chien Ko Mao-Wang Ho Po-Ren Hsueh Department of Internal Medicine Yuanlin Christian Hospital Changhua Taiwan. Department of Internal Medicine Changhua Christian Hospital Changhua Taiwan and Institute of Genomics and Bioinformatics National Chung Hsing University Taichung Taiwan. Departments of Laboratory Medicine and Internal Medicine National Taiwan University Hospital National Taiwan University College of Medicine Taipei Taiwan. Department of Medicine College of Medicine National Cheng Kung University Tainan Taiwan. Division of Infectious Diseases Department of Internal Medicine China Medical University Hospital China Medical University Taichung Taiwan. Departments of Laboratory Medicine and Internal Medicine National Taiwan University Hospital National Taiwan University College of Medicine Taipei Taiwan Division of Infectious Diseases Department of Internal Medicine China Medical University Hospital China Medical University Taichung Taiwan Center of Laboratory Medicine China Medical University Hospital China Medical University Taichung Taiwan PhD Program for Aging School of Medicine China Medical University Taichung Taiwan. Electronic address: hsporen@***.

OBJECTIVES:Antimicrobial resistance due to β-lactamase production is a worldwide issue, and β-lactamase inhibitors have been developed to overcome the growing problem. This study aimed to evaluate the in vitro activities of two recently introduced carbapenem/β-lactamase inhibitor combinations - imipenem/relebactam and meropenem/vaborbactam - and their comparators against Enterobacterales from patients with urinary tract infections (UTIs). METHODS:Enterobacterales isolates from patients with UTIs in Taiwan and participating in the Study for Monitoring Antimicrobial Resistance Trends (SMART) in 2020 were included. Minimum inhibitory concentrations (MICs) for various antibiotics were determined using the broth microdilution method. Susceptibility was interpreted based on the MIC breakpoints of the Clinical and Laboratory Standards Institute 2022. Genes encoding common β-lactamases, including extended-spectrum β-lactamases, AmpC β-lactamases and carbapenemases, were detected using multiplex polymerase chain reaction. RESULTS:A total of 309 Enterobacterales isolates were included, against which both imipenem/relebactam and meropenem/vaborbactam exerted excellent efficacy (275 of 309, 95% and 288 of 309, 99.3%, respectively). Among imipenem non-susceptible isolates, 17 of 43 (39.5%) and 39 of 43 (90.7%) were susceptible to imipenem/relebactam and meropenem/vaborbactam, respectively. CONCLUSION:Imipenem/relebactam and meropenem/vaborbactam may be appropriate choices for treating UTIs due to Enterobacterales resistant to commonly used antibiotics. Continuous monitoring of antimicrobial resistance is crucial.

关键词： Carbapenem resistance Cross-resistance Enterobacterales Multidrug resistance Novel β-lactam combination agents

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Author Correction: A biallelic multiple nucleotide length polymorphism explains functional causality at 5p15.33 prostate cancer risk locus

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Nature communications 2023年第1期14卷 6623页

作者： Sandor Spisak Viktoria Tisza Pier Vitale Nuzzo Ji-Heui Seo Balint Pataki Dezso Ribli Zsofia Sztupinszki Connor Bell Mersedeh Rohanizadegan David R Stillman Sarah Abou Alaiwi Alan H Bartels Marton Papp Anamay Shetty Forough Abbasi Xianzhi Lin Kate Lawrenson Simon A Gayther Mark Pomerantz Sylvan Baca Norbert Solymosi Istvan Csabai Zoltan Szallasi Alexander Gusev Matthew L Freedman Department of Medical Oncology Dana-Farber Cancer Institute Boston MA 02215 USA. Center for Functional Cancer Epigenetics Dana-Farber Cancer Institute Boston MA 02215 USA. Computational Health Informatics Program (CHIP) Boston Children's Hospital Harvard Medical School Boston MA 02215 USA. Institute of Enzymology Research Centre for Natural Sciences Budapest 1117 Hungary. Department of Internal Medicine School of Medicine University of Genoa Genoa Lgo R. Benzi 10 16132 Italy. Department of Physics of Complex Systems ELTE Eötvös Loránd University Pázmány P. s. 1A Budapest 1117 Hungary. Centre for Bioinformatics University of Veterinary Medicine Istvan str. 2 Budapest 1078 Hungary. Division of Genetics Brigham & Women's Hospital Boston MA USA. Women's Cancer Program Samuel Oschin Comprehensive Cancer Institute Cedars-Sinai Medical Center Los Angeles CA 90048 USA. Division of Gynecologic Oncology Department of Obstetrics and Gynecology Cedars-Sinai Medical Center Los Angeles CA 90048 USA. Center for Bioinformatics and Functional Genomics Department of Biomedical Science Cedars-Sinai Medical Center Los Angeles CA 90048 USA. The Eli and Edythe L. Broad Institute Cambridge MA 02142 USA. Department of Bioinformatics Forensic and Insurance Medicine Semmelweis University Budapest Hungary. Danish Cancer Society Research Center Strandboulevarden 49 2100 Copenhagen Denmark. National Korányi Institute of Pulmonology Budapest 1112 Hungary. Department of Medical Oncology Dana-Farber Cancer Institute Boston MA 02215 USA. matthew_freedman@dfci.harvard.edu. Center for Functional Cancer Epigenetics Dana-Farber Cancer Institute Boston MA 02215 USA. matthew_freedman@dfci.harvard.edu. The Eli and Edythe L. Broad Institute Cambridge MA 02142 USA. matthew_freedman@dfci.harvard.edu.

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