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Correction to: 2021 Taxonomic update of phylum Negarnaviricota (Riboviria: Orthornavirae), including the large orders Bunyavirales and Mononegavirales

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Archives of virology 2021年第12期166卷 3567-3579页

作者： Jens H Kuhn Scott Adkins Bernard R Agwanda Rim Al Kubrusli Sergey V Alkhovsky Gaya K Amarasinghe Tatjana Avšič-Županc María A Ayllón Justin Bahl Anne Balkema-Buschmann Matthew J Ballinger Christopher F Basler Sina Bavari Martin Beer Nicolas Bejerman Andrew J Bennett Dennis A Bente Éric Bergeron Brian H Bird Carol D Blair Kim R Blasdell Dag-Ragnar Blystad Jamie Bojko Wayne B Borth Steven Bradfute Rachel Breyta Thomas Briese Paul A Brown Judith K Brown Ursula J Buchholz Michael J Buchmeier Alexander Bukreyev Felicity Burt Carmen Büttner Charles H Calisher Mengji Cao Inmaculada Casas Kartik Chandran Rémi N Charrel Qi Cheng Yuya Chiaki Marco Chiapello Il-Ryong Choi Marina Ciuffo J Christopher S Clegg Ian Crozier Elena Dal Bó Juan Carlos de la Torre Xavier de Lamballerie Rik L de Swart Humberto Debat Nolwenn M Dheilly Emiliano Di Cicco Nicholas Di Paola Francesco Di Serio Ralf G Dietzgen Michele Digiaro Olga Dolnik Michael A Drebot J Felix Drexler William G Dundon W Paul Duprex Ralf Dürrwald John M Dye Andrew J Easton Hideki Ebihara Toufic Elbeaino Koray Ergünay Hugh W Ferguson Anthony R Fooks Marco Forgia Pierre B H Formenty Jana Fránová Juliana Freitas-Astúa Jingjing Fu Stephanie Fürl Selma Gago-Zachert George Fú Gāo María Laura García Adolfo García-Sastre Aura R Garrison Thomas Gaskin Jean-Paul J Gonzalez Anthony Griffiths Tony L Goldberg Martin H Groschup Stephan Günther Roy A Hall John Hammond Tong Han Jussi Hepojoki Roger Hewson Jiang Hong Ni Hong Seiji Hongo Masayuki Horie John S Hu Tao Hu Holly R Hughes Florian Hüttner Timothy H Hyndman M Ilyas Risto Jalkanen Dàohóng Jiāng Gilda B Jonson Sandra Junglen Fujio Kadono Karia H Kaukinen Michael Kawate Boris Klempa Jonas Klingström Gary Kobinger Igor Koloniuk Hideki Kondō Eugene V Koonin Mart Krupovic Kenji Kubota Gael Kurath Lies Laenen Amy J Lambert Stanley L Langevin Benhur Lee Elliot J Lefkowitz Eric M Leroy Shaorong Li Longhui Li Jiànróng Lǐ Huazhen Liu Igor S Lukashevich Piet Maes William Marciel de Souza Marco Marklewitz Sergio H Marshall Shin-Yi L Marzano Se Integrated Research Facility at Fort Detrick National Institute of Allergy and Infectious Diseases National Institutes of Health Frederick MD USA. kuhnjens@mail.nih.gov. United States Department of Agriculture Agricultural Research Service US Horticultural Research Laboratory Fort Pierce FL USA. Zoology Department National Museums of Kenya Nairobi Kenya. Jomo Kenyatta University of Agriculture & Technology Nairobi Kenya. Division Phytomedicine Faculty of Life Sciences Humboldt-Universität zu Berlin Berlin Germany. D.I. Ivanovsky Institute of Virology of N.F. Gamaleya National Center on Epidemiology and Microbiology of Ministry of Health of Russian Federation Moscow Russia. Department of Pathology and Immunology Washington University School of Medicine St. Louis MO USA. Faculty of Medicine University of Ljubljana Ljubljana Slovenia. Centro de Biotecnología y Genómica de Plantas Universidad Politécnica de Madrid-Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria Campus de Montegancedo Pozuelo de Alarcón Madrid Spain. Departamento de Biotecnología-Biología Vegetal Escuela Técnica Superior de Ingeniería Agronómica Alimentaria y de Biosistemas Universidad Politécnica de Madrid Madrid Spain. Center for Ecology of Infectious Diseases Department of Infectious Diseases Department of Epidemiology and Biostatistics Insitute of Bioinformatics University of Georgia Athens GA USA. Institute of Novel and Emerging Infectious Diseases Friedrich-Loeffler-Institut Federal Research Institute for Animal Health Greifswald-Insel Riems Germany. Department of Biological Sciences Mississippi State University Mississippi State MS USA. Center for Microbial Pathogenesis Institute for Biomedical Sciences Georgia State University Atlanta GA USA. Edge BioInnovation Consulting and Mgt Frederick MD USA. Institute of Diagnostic Virology Friedrich-Loeffler-Institut Greifswald-Insel Riems Germany. UFyMA INTA-CONICET Cordoba Argentina. Genomics and Bioinformatics D

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A second update on mapping the human genetic architecture of COVID-19

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Nature 2023年第7977期621卷 E7-E26页

作者： Masahiro Kanai Christine Stevens Benjamin M. Neale Mark Daly Andrea Ganna Amy Trankiem Mary K. Balaconis Samuli Ripatti Lindo Nkambul Mark J. Daly Sam Bryant Matthew Solomonson Shea J. Andrews Mattia Cordioli Juha Karjalainen Juha Mehtonen Matti Pirinen Andrea Corbetta Bradley Jermy Kati Donner Katja Kivinen Aarno Palotie Mari Kaunisto Kumar Veerapen Konrad J. Karczewski Alicia R. Martin Elizabeth G. Atkinson Kristin Tsuo Nikolas Baya Rahul Gupta Raymond K. Walters Duncan S. Palmer Gopal Sarma Nathan Cheng Wenhan Lu Claire Churchhouse Jacqueline I. Goldstein Daniel King Wei Zhou Cotton Seed Hilary Finucane F. Kyle Satterstrom Gita A. Pathak Akiko Iwasaki Karolina Chwialkowska Karolina Chwiałkowska Brooke N. Wolford Hajar Fauzan Ahmad Shea Andrews Kathrin Aprile von Hohenstaufen Puoti Palwende R. Boua Guillaume Butler-Laporte Celia M. T. Greenwood Bartha M. Knoppers Mark Lathrop Carmen L. Cadilla Francesca Colombo Nicole Dueker Chloe Kirk Atanu Kumar Dutta Yasser M. El-Sherbiny Jehan J. El-Jawhari Doaa Shahin Ahmed Elzeiny Tamer A. Mansour Madonna M. Eltoukhy Attia A. S. Mohamed Sahar Esmaeeli Annika Faucon Israel Fernández Cadenas Israel Fernandez-Cadenas Laia Llucià-Carol Natalia Cullell Elena Muiño Jara Cárcel-Márquez Margherita Francescatto Laurent Francioli Lindokuhle Nkambule Jatin Arora Soumya Raychaudhuri Caroline Cusick Lude Franke Macarena Fuentes Macarena Fuentes-Guajardo David Gómez Cabrero Emi N. Harry Philip Jansen József L. Szentpéteri Réka Várnai Elżbieta Kaja Athanasios Kousathanas Dorote Pasko Mark J. Caulfield Alex Stuckey Christopher A. Odhams Susan Walker Daniel Rhodes Richard H. Scott Loukas Moutsianas Afshan Siddiq Peter Goddard Sally Donovan Tala Zainy Fiona Maleady-Crowe Linda Todd Shahla Salehi Greg Elgar Georgia Chan Prabhu Arumugam Christine Patch Augusto Rendon Tom A. Fowler Jose E. Krieger Sanjay K. Patel Audrey Lemaçon Sophie Limou Pietro Lió Eirini Marouli Charles Hinds Minttu M. Marttila Carolina Medina-Gómez Isabelle Migeotte Soumyajit Mondal Andrés Moreno-Estrada Leire Moya Tomok Broad Institute of MIT and Harvard Cambridge MA USA Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Department of Biomedical Informatics Harvard Medical School Boston MA USA Program in Bioinformatics and Integrative Genomics Harvard Medical School Boston MA USA Institute for Molecular Medicine Finland (FIMM) University of Helsinki Helsinki Finland Institute for Molecular Medicine Finland University of Helsinki Helsinki Finland Institute for Molecular Medicine Finland (FIMM) HiLIFE University of Helsinki Helsinki Finland Public Health Faculty of Medicine University of Helsinki Helsinki Finland Analytic & Translational Genetics Unit Massachusetts General Hospital Boston MA USA Stanley Center for Psychiatric Research & Program in Medical and Population Genetics Cambridge UK Institute for Molecular Medicine Finland (FIMM) Univerisity of Helsinki Helsinki Finland University of California San Francisco San Francisco CA USA Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA Program in Biological and Biomedical Sciences Harvard Medical School Boston MA USA Department of Psychiatry School of Medicine Yale University New Haven CT USA Veteran Affairs Connecticut Healthcare System West Haven CT USA Yale University New Haven CT USA Centre for Bioinformatics and Data Analysis Medical University of Bialystok Bialystok Poland Department of Computational Medicine and Bioinformatics University of Michigan Ann Arbor MI USA Faculty of Industrial Sciences and Technology Universiti Malaysia Pahang Pahang Malaysia Icahn School of Medicine at Mount Sinai New York NY USA Genolier Innovation Network and Hub Swiss Medical Network Genolier Healthcare Campus Genolier Switzerland Immediate Independent Multidisciplinary Med & Biotech Research Association Milan Italy Clinical Research Unit of Nanor

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Human genetic and immunological determinants of critical COVID-19 pneumonia

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四川生理科学杂志 2021年第11期43卷 1947-1947页

作者： Qian Zhang St Giles Laboratory of Human Genetics of Infectious Diseases Rockefeller Branch The Rockefeller University New York NY USA Laboratory of Human Genetics of Infectious Diseases Necker Branch INSERM U1163 Necker Hospital for Sick Children Paris France University of Paris Imagine Institute Paris France Department of Pediatrics Necker Hospital for Sick Children Paris France Howard Hughes Medical Institute Paris France Cemil Taşcıoglu City Hospital Istanbul Turkey Laboratory of Human Genetics of Infectious Diseases Necker Branch INSERM U1163 Necker Hospital for Sick Children Paris France Imagine Institute University of Paris Paris France Al Jalila Children’s Hospital Dubai United Arab Emirates San Raffaele Telethon Institute for Gene Therapy IRCCS Ospedale San Raffaele and Vita Salute San Raffaele University Milan Italy Hospices Civils de Lyon Lyon France Helix San Mateo CA USA Department of Intensive Care Medicine Critical Care Center CHU Lille Lille France Univ. Lille CNRS Inserm CHU Lille Institut Pasteur de Lille U1019-UMR9017-CIIL-Centre d’Infection et d’Immunité deLille Lille France Shupyk National Medical Academy for Postgraduate Education Kiev Ukraine Department of Medical Microbiology University Medical Center Utrecht Utrecht The Netherlands Sidra Medicine Doha Qatar Primary Immunodeficiencies Group Department of Microbiology and Parasitology School of Medicine University of Antioquia Medellín Colombia School of Microbiology University of Antioquia Medellín Colombia IIBB-CSIC IDIBAPS Barcelona Spain Department of Immunology Second Faculty of Medicine Charles University University Hospital in Motol Prague Czech Republic Department of Immunology Dmitry Rogachev National Medical Research Center of Pediatric Hematology Oncology and Immunology Moscow Russia Pulmonology Department Cliniques Universitaires Saint-Luc Brussels Belgium Institut de Recherche Expérimentale et Clinique (IREC) Université Catholique de Louvain Brussels Belgium

SARS-CoV-2 infection is benign in most individuals but,in-10%of cases,it triggers hypoxemic COVID-19 pneumonia,which becomes critical in-3%of *** ensuing risk of death(-1%)doubles every five years from childhood onward and is-1.5 times greater in men than in *** are the molecular and cellular determinants of critical COVID-19 pneumonia?Inborn errors of type I IFNs,including autosomal TLR3 and X-linked TLR7 deficiencies,are found in-1-5%of patients with critical pneumonia under 60 years old.

关键词： pneumonia critical cases

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Trust in government moderates the association between fear of COVID-19 as well as empathic concern and preventive behaviour

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Communications Psychology 2023年第1期1卷 1-16页

作者： Arzu Karakulak Beyza Tepe Radosveta Dimitrova Mohamed Abdelrahman Azzam Amin Plamen Akaliyski Rana Alaseel Batoul Bakkar Wassim Gharz Edine Fatema Mohsen Yousuf Abdulqader Alkamali Danny A. Lizarzaburu Aguinaga Andrii Andres John Jamir Benzon R. Aruta Marios Assiotis Olga Solomontos-Kountouri Hrant Avanesyan Maria Muradyan Norzihan Ayub Maria Bacikova-Sleskova Raushan Baikanova Aidos Bolatov Telman Seisembekov Sunčica Bartoluci Ksenija Bosnar Anna Janovská Darko Katović Franjo Prot David Benitez Rita Rivera Ivanna Bodnar Iuliia Pavlova Judyta Borchet Maria Kazmierczak Aleksandra Lewandowska-Walter Justyna Michalek-Kwiecien Katarzyna Skrzypińska Yunier Broche-Pérez Carmen Buzea Rosalinda Cassibba Pasquale Musso Fabiola Silletti Marta Martín Carbonell Bin-Bin Chen Gordana Ristevska Dimitrovska Dương Công Doanh Alejandra del Carmen Dominguez Espinosa Nelli Ferenczi Regina Fernández-Morales Jorge Gaete Yiqun Gan Suely Giolo Rubia Carla Formighieri Giordani Camila Muhl José Rasia Maria-Therese Friehs Shahar Gindi Biljana Gjoneska Juan Carlos Godoy Lorena Cecilia López Steinmetz Maria del Pilar Grazioso Marinés Mejía Camellia Hancheva Given Hapunda Shogo Hihara Russell Sarwar Kabir Tinka Delakorda Kawashima Kazumi Sugimura Brett Walter Mohd Saiful Husain Md Saiful Islam Sadia Sultana Nino Javakhishvili Ana Makashvili Veljko Jovanović Nor Ba’yah Abdul Kadir Johannes Karl Zhumaly Kauyzbay Richa Khanna Meetu Khosla Martina Klicperová-Baker Iva Poláčková Šolcová Ana Kozina Steven Eric Krauss Rodrigo Landabur Katharina Lefringhausen Yun-Hsia Liang Sadia Malik Denisse Manrique-Millones Stefanos Mastrotheodoros Breeda McGrath Enkeleint A. Mechili Samson Mhizha Diana Miconi Rodrigo Moreta-Herrera Andrej Naterer Arash Nemat Felix Neto Joana Neto Luz Marina Alonso Palacio Hassan Okati-Aliabad Carlos Iván Orellana Ligia María Orellana Sushanta Kumar Mishra Joonha Park Eddy Peralta Petro Petrytsa Saša Pišot Benedicta Prihatin Dwi Riyanti Laura Francisca Sudarnoto Angela Oktavia Suryani Adil Samekin Danielius Serapinas Rasa Pilkaus Istanbul Policy Center Sabanci University Istanbul Turkey Department of Psychology MEF University Istanbul Turkey Department of Psychology Stockholm University Stockholm Sweden Social Psychology Department Doha Institute for Graduate Studies Doha Qatar Mokhtass for Consultations and Research Doha Qatar Department of Sociology and Social Policy Lingnan University Hong Kong SAR China Faculty of Medicine Syrian Private University Damascus Syrian Arab Republic Ipswich Hospital Ipswich UK United Private School Athaiba Oman Universidad César Vallejo Trujillo Peru Department of Physical Education Lviv Polytechnic National University Lviv Ukraine Department of Psychology De La Salle University Manila Philippines Theological School Church of Cyprus Nicosia Cyprus General Psychology Chair Yerevan State University Yerevan Armenia Faculty of Psychology and Education University of Malaysia Sabah Sabah Malaysia Department of Educational Psychology and Health Psychology Pavol Jozef Šafárik University Košice Slovakia Astana Medical University Astana Kazakhstan University of Zagreb Zagreb Croatia Clinical Psychology Department Albizu University Miami FL USA Counseling & Psychological Services Duke University Durham NC USA Lviv State University of Physical Culture Lviv Ukraine Institute of Psychology University of Gdansk Gdansk Poland Polish Society for the Psychology of Religion University of Gdańsk Gdańsk Poland Department of Psychology Universidad Central Marta Abreu de Las Villas Santa Clara Cuba Department of Social Sciences and Communication Transilvania University of Brasov Brasov Romania Department of Education Psychology Communication University of Bari Bari Italy Faculty of Psychology Cooperative University of Colombia Santa Marta Colombia Psychology Department Fudan University Shanghai China Higher Medical School University St. Kliment Ohridski Bitola North Macedonia PHI Psihomedika Bitola North Macedonia National Economics University

With the COVID-19 pandemic, behavioural scientists aimed to illuminate reasons why people comply with (or not) large-scale cooperative activities. Here we investigated the motives that underlie support for COVID-19 preventive behaviours in a sample of 12,758 individuals from 34 countries. We hypothesized that the associations of empathic prosocial concern and fear of disease with support towards preventive COVID-19 behaviours would be moderated by trust in the government. Results suggest that the association between fear of disease and support for COVID-19 preventive behaviours was strongest when trust in the government was weak (both at individual- and country-level). Conversely, the association with empathic prosocial concern was strongest when trust in the government was high, but this moderation was only found at individual-level scores of governmental trust. We discuss how motivations may be shaped by socio-cultural context, and outline how findings may contribute to a better understanding of collective action during global crises.

关键词： Human behaviour Infectious diseases

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Corrigendum to "Immediate effect of basic body awareness therapy on heart rate variability" [Complement. Ther. Clin. Pract. 22 (2016) 8-11]

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Complementary therapies in clinical practice 2018年 31卷 388页

作者： Alessandra Madia Mantovani Cristina Elena Prado Teles Fregonesi Roselene Modolo Regueiro Lorençoni Nathalia Ulices Savian Mariana Romanholi Palma Afonso Shiguemi Inoue Salgado Luís Vicente Franco de Oliveira Rodolfo Borges Parreira PhD Student in Science Motricity Institute of Biosciences Universidade Estadual Paulista Rio Claro SP 19060-900 Brazil. Department of Post Graduate Program of Physical Therapy Universidade Estadual Paulista Presidente Prudente 19060-900 Brazil. School of Postural and Manual Therapy Salgado Institute of Integral Health Londrina 86055-240 PR Brazil. Rehabilitation Sciences Master and Doctoral Degree Program - Nove de Julho University UNINOVE Sao Paulo SP 01504-000 Brazil. School of Postural and Manual Therapy Salgado Institute of Integral Health Londrina 86055-240 PR Brazil. Electronic address: dolfo23@***.

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Author Correction: Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil

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Nature communications 2022年第1期13卷 1831页

作者： Michel S Naslavsky Marilia O Scliar Guilherme L Yamamoto Jaqueline Yu Ting Wang Stepanka Zverinova Tatiana Karp Kelly Nunes José Ricardo Magliocco Ceroni Diego Lima de Carvalho Carlos Eduardo da Silva Simões Daniel Bozoklian Ricardo Nonaka Nayane Dos Santos Brito Silva Andreia da Silva Souza Heloísa de Souza Andrade Marília Rodrigues Silva Passos Camila Ferreira Bannwart Castro Celso T Mendes-Junior Rafael L V Mercuri Thiago L A Miller Jose Leonel Buzzo Fernanda O Rego Nathalia M Araújo Wagner C S Magalhães Regina Célia Mingroni-Netto Victor Borda Heinner Guio Carlos P Rojas Cesar Sanchez Omar Caceres Michael Dean Mauricio L Barreto Maria Fernanda Lima-Costa Bernardo L Horta Eduardo Tarazona-Santos Diogo Meyer Pedro A F Galante Victor Guryev Erick C Castelli Yeda A O Duarte Maria Rita Passos-Bueno Mayana Zatz Human Genome and Stem Cell Research Center University of São Paulo São Paulo SP Brazil. mnaslavsky@usp.br. Department of Genetics and Evolutionary Biology Biosciences Institute University of São Paulo São Paulo SP Brazil. mnaslavsky@usp.br. Hospital Israelita Albert Einstein São Paulo SP Brazil. mnaslavsky@usp.br. Human Genome and Stem Cell Research Center University of São Paulo São Paulo SP Brazil. Instituto da Criança Faculdade de Medicina da Universidade de São Paulo São Paulo SP Brazil. Orthopedic Research Labs Boston Children's Hospital and Department of Genetics Harvard Medical School Boston MA USA. Laboratório DASA São Paulo Brazil. Laboratory of Genome Structure and Ageing European Research Institute for the Biology of Ageing University Medical Center Groningen Groningen Netherlands. Department of Genetics and Evolutionary Biology Biosciences Institute University of São Paulo São Paulo SP Brazil. São Paulo State University (UNESP) Molecular Genetics and Bioinformatics Laboratory School of Medicine Botucatu State of São Paulo Brazil. São Paulo State University (UNESP) Department of Pathology School of Medicine Botucatu State of São Paulo Brazil. Departamento de Química Faculdade de Filosofia Ciências e Letras de Ribeirão Preto Universidade de São Paulo Ribeirão Preto São Paulo Brazil. Centro de Oncologia Molecular Hospital Sirio-Libanes São Paulo Brazil. Department of Biochemistry Institute of Chemistry University of São Paulo São Paulo São Paulo Brazil. Bioinformatics Graduate program University of São Paulo São Paulo Brazil. Departamento de Genética Ecologia e Evolução Instituto de Ciências Biológicas Universidade Federal de Minas Gerais Belo Horizonte MG Brazil. Núcleo de Ensino e Pesquisa Instituto Mário Penna Belo Horizonte MG Brazil. Laboratorio de Biotecnologia y Biologia Molecular Instituto Nacional de Salud Lima Peru. Universidad de Huánuco Huánuco Peru. Division of Cancer Epidemiology and Genetics National Cancer Insti

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Abstracts from the 1st JoPPP Conference on Pharmaceutical Policy and Practice Abstracts

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JOURNAL OF PHARMACEUTICAL POLICY AND PRACTICE 2020年第1期13卷 3-3页

作者： [Anonymous] Macter International Limited F-216 S.I.T.E Karachi Pakistan Department of Pharmaceutics Faculty of Pharmacy & Pharmaceutical Sciences University of Karachi Karachi Pakistan Research & Education Centre for Evidence-Based Medicine Cochrane Russia Kazan Federal University Kazan Republic of Tatarstan Russian Federation School of Pharmacy Mongolian National University of Medical Sciences S. Zorig Street Ulaanbaatar 14210 Mongolia Mongolian University of Pharmaceutical Sciences Sonsgolon Road-5 Songinokhairkhan District Ulaanbaatar 18130 Mongolia Drug Research Institute Monos group Sonsgolon Road-5 Songinokhairkhan District Ulaanbaatar 18130 Mongolia Faculty of Health Sciences Curtin University Kent Street Bentley Perth Western Australia 6102 Australia School of Public Health Mongolian National University of Medical Sciences S. Zorig Street Ulaanbaatar 14210 Mongolia Departemen Farmasetika Faculty of Pharmacy Universitas Gadjah Mada Yogyakarta Indonesia School of Pharmacy Taylor’s University Subang Selangor Malaysia Faculty of Pharmacy Universiti Technologi MARA Shah Alam Malaysia Department of Pharmacy Practice School of Pharmacy International Medical University 57000 Kuala Lumpur Malaysia Faculty of Pharmacy Universiti Kebangsaan Malaysia 50300 Kuala Lumpur Malaysia Faculty of Health and Medical Sciences Taylor’s University 47500 Subang Jaya Malaysia Faculty of Pharmacy Cyberjaya University College of Medical Sciences 63000 Cyberjaya Selangor Malaysia Faculty of Pharmacy Level 11 FF1 Building UiTM Puncak Alam Campus . Selangor Malaysia Bandar Pasir Mas Health Clinic Jalan Hospital Pasir Mas Kelantan Malaysia School of Pharmacy Monash University Malaysia Bandar Sunway Selangor Malaysia Asian Centre for Evidence Synthesis in Population Implementation and Clinical Outcomes Health and Well-Being Cluster Global Asia in the 21st Century Platform Monash University Malaysia Bandar Sunway Selangor Malaysia School of Pharmaceutical Sciences Universiti Sains

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Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (vol 50, pg 765, 2017)

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NATURE GENETICS 2018年第5期50卷 765-766页

作者： Turcot, Valerie Lu, Yingchang Highland, Heather M. Schurmann, Claudia Justice, Anne E. Fine, Rebecca S. Bradfield, Jonathan P. Esko, Tonu Giri, Ayush Graff, Mariaelisa Guo, Xiuqing Hendricks, Audrey E. Karaderi, Tugce Lempradl, Adelheid Locke, Adam E. Mahajan, Anubha Marouli, Eirini Sivapalaratnam, Suthesh Young, Kristin L. Alfred, Tamuno Feitosa, Mary F. Masca, Nicholas G. D. Manning, Alisa K. Medina-Gomez, Carolina Mudgal, Poorva Ng, Maggie C. Y. Reiner, Alex P. Vedantam, Sailaja Willems, Sara M. Winkler, Thomas W. Abecasis, Goncalo Aben, Katja K. Alam, Dewan S. Alharthi, Sameer E. Allison, Matthew Amouyel, Philippe Asselbergs, Folkert W. Auer, Paul L. Balkau, Beverley Bang, Lia E. Barroso, Ines Bastarache, Lisa Benn, Marianne Bergmann, Sven Bielak, Lawrence F. Bluher, Matthias Boehnke, Michael Boeing, Heiner Boerwinkle, Eric Boger, Carsten A. Bork-Jensen, Jette Bots, Michiel L. Bottinger, Erwin P. Bowden, Donald W. Brandslund, Ivan Breen, Gerome Brilliant, Murray H. Broer, Linda Brumat, Marco Burt, Amber A. Butterworth, Adam S. Campbell, Peter T. Cappellani, Stefania Carey, David J. Catamo, Eulalia Caulfield, Mark J. Chambers, John C. Chasman, Daniel I. Chen, Yii-Der I. Chowdhury, Rajiv Christensen, Cramer Chu, Audrey Y. Cocca, Massimiliano Collins, Francis S. Cook, James P. Corley, Janie Galbany, Jordi Corominas Cox, Amanda J. Crosslin, David S. Cuellar-Partida, Gabriel D'Eustacchio, Angela Danesh, John Davies, Gail Bakker, Paul I. W. Groot, Mark C. H. Mutsert, Renee Deary, Ian J. Dedoussis, George Demerath, Ellen W. Heijer, Martin Hollander, Anneke I. Ruijter, Hester M. Dennis, Joe G. Denny, Josh C. Angelantonio, Emanuele Drenos, Fotios Du, Mengmeng Dube, Marie-Pierre Dunning, Alison M. Easton, Douglas F. Edwards, Todd L. Ellinghaus, David Ellinor, Patrick T. Elliott, Paul Evangelou, Evangelos Farmaki, Aliki-Eleni Farooqi, I. Sadaf Faul, Jessica D. Fauser, Sascha Feng, Shuang Ferrannini, Ele Ferrieres, Jean Florez, Jose C. Ford, Ian Fornage, Myriam Franco, Oscar H. Franke, Andre Franks, Paul W. Friedrich, Ne Montreal Heart Institute Université de Montréal Montreal Quebec Canada Division of Epidemiology Department of Medicine Vanderbilt-Ingram Cancer Center Vanderbilt Epidemiology Center Vanderbilt University School of Medicine Nashville TN USA Charles Bronfman Institute for Personalized Medicine Icahn School of Medicine at Mount Sinai New York NY USA Genetics of Obesity and Related Metabolic Traits Program Icahn School of Medicine at Mount Sinai New York NY USA Department of Epidemiology University of North Carolina Chapel Hill NC USA Human Genetics Center University of Texas School of Public Health University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences University of Texas Health Science Center at Houston Houston TX USA Broad Institute of MIT and Harvard Cambridge MA USA Department of Genetics Harvard Medical School Boston MA USA Division of Endocrinology and Center for Basic and Translational Obesity Research Boston Children’s Hospital Boston MA USA Center for Applied Genomics Division of Human Genetics Children’s Hospital of Philadelphia Philadelphia PA USA Quantinuum Research LLC San Diego CA USA Estonian Genome Center University of Tartu Tartu Estonia Division of Epidemiology Department of Medicine Institute for Medicine and Public Health Vanderbilt Genetics Institute Vanderbilt University Nashville TN USA Institute for Translational Genomics and Population Sciences LABioMed at Harbor-UCLA Medical Center Torrance CA USA Wellcome Trust Sanger Institute Hinxton UK Department of Mathematical and Statistical Sciences University of Colorado Denver CO USA Wellcome Trust Centre for Human Genetics University of Oxford Oxford UK Department of Biological Sciences Faculty of Arts and Sciences Eastern Mediterranean University Famagusta Cyprus Max Planck Institute of Immunobiology and Epigenetics Freiburg Germany Department of Biostatistics and Center for Statistical Genetics University of Michigan Ann Arbor

Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2 and ZNF169) newly implicated in human obesity, 2 variants were in genes (MC4R and KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR. The effect sizes of rare variants are ~10 times larger than those of common variants, with the largest effect observed in carriers of an MC4R mutation introducing a stop codon (***35Ter, MAF = 0.01%), who weighed ~7 kg more than non-carriers. Pathway analyses based on the variants associated with BMI confirm enrichment of neuronal genes and provide new evidence for adipocyte and energy expenditure biology, widening the potential of genetically supported therapeutic targets in obesity.

关键词： Genome-wide association studies Obesity

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Resistant tuberculosis in Maranhão, Brazil: A case series

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BMC Research Notes 2016年第1期9卷 1-3页

作者： Maia, Kenia Regina Oliveira De Castro Viana, Graça Maria Da Silva, Marcos Antonio Custódio Neto Do Desterro Soares Brandão Nascimento, Maria De Souza, Victor Lima Monteiro, Silvio Gomes Graduate Program in Parasitic Biology University CEUMA São Luís MA Brazil Nucleus of Basic and Applied Immunology Department of Pathology Federal University of Maranhão São Luís MA Brazil Medicine School Federal University of Maranhão Scientific Scholarship of CNPq São Luís MA Brazil Graduate Program in Adult and Child Health Nucleus of Basic and Applied Immunology Department of Pathology Federal University of Maranhão São Luís MA Brazil Medicine School Federal University of Maranhão São Luís MA Brazil

Background: Mycobacterium tuberculosis multidrug resistance, especially against rifampicin and isoniazid, places pulmonary tuberculosis in the list of emerging diseases. The misuse of therapeutic regimens is one of its main predisposing factors. Case presentation: Four clinical cases (three were brown and one black) with multidrug-resistant tuberculosis, treated in a reference hospital in the state of Maranhão, Brazil, were reported to evaluate the importance of radiological framework on disease evolution. Conclusion: The clinical framework showed a bad evolution and drug resistance, while radiology showed lung lesions, ranging from exudative infiltrates to lung parenchyma disintegration. © 2016 Maia et al.

关键词： Anti-tuberculosis drugs Resistance Tuberculosis

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Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort

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Movement disorders : official journal of the Movement Disorder Society 2023年第2期38卷 286-303页

作者： Eva-Juliane Vollstedt Susen Schaake Katja Lohmann Shalini Padmanabhan Alexis Brice Suzanne Lesage Christelle Tesson Marie Vidailhet Isabel Wurster Faycel Hentati Anat Mirelman Nir Giladi Karen Marder Cheryl Waters Stanley Fahn Meike Kasten Norbert Brüggemann Max Borsche Tatiana Foroud Eduardo Tolosa Alicia Garrido Grazia Annesi Monica Gagliardi Maria Bozi Leonidas Stefanis Joaquim J Ferreira Leonor Correia Guedes Micol Avenali Simona Petrucci Lorraine Clark Ekaterina Y Fedotova Natalya Y Abramycheva Victoria Alvarez Manuel Menéndez-González Silvia Jesús Maestre Pilar Gómez-Garre Pablo Mir Andrea Carmine Belin Caroline Ran Chin-Hsien Lin Ming-Che Kuo David Crosiers Zbigniew K Wszolek Owen A Ross Joseph Jankovic Kenya Nishioka Manabu Funayama Jordi Clarimon Caroline H Williams-Gray Marta Camacho Mario Cornejo-Olivas Luis Torres-Ramirez Yih-Ru Wu Guey-Jen Lee-Chen Ana Morgadinho Teeratorn Pulkes Pichet Termsarasab Daniela Berg Gregor Kuhlenbäumer Andrea A Kühn Friederike Borngräber Giuseppe de Michele Anna De Rosa Alexander Zimprich Andreas Puschmann George D Mellick Jolanta Dorszewska Jonathan Carr Rosangela Ferese Stefano Gambardella Bruce Chase Katerina Markopoulou Wataru Satake Tatsushi Toda Malco Rossi Marcelo Merello Timothy Lynch Diana A Olszewska Shen-Yang Lim Azlina Ahmad-Annuar Ai Huey Tan Bashayer Al-Mubarak Hasmet Hanagasi Dariusz Koziorowski Sibel Ertan Gençer Genç Patricia de Carvalho Aguiar Melinda Barkhuizen Marcia M G Pimentel Rachel Saunders-Pullman Bart van de Warrenburg Susan Bressman Mathias Toft Silke Appel-Cresswell Anthony E Lang Matej Skorvanek Agnita J W Boon Rejko Krüger Esther M Sammler Vitor Tumas Bao-Rong Zhang Gaetan Garraux Sun Ju Chung Yun Joong Kim Juliane Winkelmann Carolyn M Sue Eng-King Tan Joana Damásio Péter Klivényi Vladimir S Kostic David Arkadir Mika Martikainen Vanderci Borges Jens Michael Hertz Laura Brighina Mariana Spitz Oksana Suchowersky Olaf Riess Parimal Das Brit Mollenhauer Emilia M Gatto Maria Skaalum Petersen Nobutaka Hattori Ruey-Meei Wu Sergey N Illarioshkin Enz Institute of Neurogenetics University of Lübeck Lübeck Germany. Research Programs The Michael J. Fox Foundation for Parkinson's Research New York New York USA. Department of Neurology Sorbonne University Paris Brain Institute - ICM Inserm CNRS Assistance Publique Hôpitaux de Paris Pitié-Salpêtrière Hospital Paris France. Sorbonne University Paris Brain Institute - ICM Inserm CNRS Paris France. Department of Neurodegenerative Diseases University of Tuebingen Tuebingen Baden Wuerttemberg Germany Hertie Institute for Clinical Brain Research and German Centre for Neurodegenerative Diseases Tuebingen Germany. Mongi Ben Hmida National Institute of Neurology Tunis Tunisia. Laboratory of Early Markers of Neurodegeneration Neurological Institute Tel-Aviv Medical Center Tel-Aviv Israel Sackler School of Medicine Tel-Aviv University Tel-Aviv Israel Sagol School of Neuroscience Tel-Aviv University Tel-Aviv Israel. Neurological Institute Tel-Aviv Medical Center Tel-Aviv Israel Sackler School of Medicine Sagol School of Neuroscience Tel-Aviv University Tel-Aviv Israel. Department of Neurology Taub Institute for Alzheimer's Disease and the Aging Brain Columbia University New York New York USA. Department of Neurology Columbia University New York New York USA. Department of Psychiatry and Psychotherapy and Institute of Neurogenetics University of Lübeck Lübeck Germany. Department of Neurology and Institute of Neurogenetics University of Lübeck Lübeck Germany. Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis Indiana USA. Parkinson Disease and Movement Disorders Unit Neurology Service Hospital Clínic de Barcelona Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) University of Barcelona (UB) Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED:CB06/05/0018-ISCIII) Barcelona Spain. Institute of Biomedical Research and Innovation National Research Council Cosenza

BACKGROUND:As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited. OBJECTIVE:The objectives are to (1) establish an international cohort of affected and unaffected individuals with PD-linked variants; (2) provide harmonized and quality-controlled clinical characterization data for each included individual; and (3) further promote collaboration of researchers in the field of monogenic PD. METHODS:We conducted a worldwide, systematic online survey to collect individual-level data on individuals with PD-linked variants in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1, as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype-phenotype relationships were analyzed. RESULTS:We collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included individuals, 3185 had a diagnosis of PD (ie, 1306 LRRK2, 115 SNCA, 23 VPS35, 429 PRKN, 75 PINK1, 13 DJ-1, and 1224 GBA) and 703 were unaffected (ie, 328 LRRK2, 32 SNCA, 3 VPS35, 1 PRKN, 1 PINK1, and 338 GBA). In total, we identified 269 different pathogenic variants; 1322 individuals in our cohort (34%) were indicated as not previously published. CONCLUSIONS:Within the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected individuals carrying PD-linked variants; (2) provide harmonized and quality-controlled clinical and genetic data for each included individual; (3) promote collaboration in the field of genetic PD with a view toward clini

关键词： Parkinson's disease monogenic PD

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