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Genomic profiling in advanced stage non-small-cell lung cancer patients with platinum-based chemotherapy identifies germline variants with prognostic value in SMYD2

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Cancer Treatment and research Communications 2018年 15卷 21-31页

作者： Galván-Femenía, Iván Guindo, Marta Duran, Xavier Calabuig-Fariñas, Sílvia Mercader, Josep Maria Ramirez, Jose Luis Rosell, Rafael Torrents, David Carreras, Anna Kohno, Takashi Jantus-Lewintre, Eloisa Camps, Carlos Perucho, Manuel Sumoy, Lauro Yokota, Jun de Cid, Rafael Genomes For life-GCAT Lab. Program of Predictive and Personalized Medicine of Cancer (PMPPC) Institute for Health Science Research Germans Trias i Pujol (IGTP) Can Ruti Biomedical Campus Crta de Can Ruti Camí de les Escoles S/N Badalona 08916 Barcelona Spain Barcelona Supercomputing Center (BSC-CNS) Joint BSC-CRG-IRB Research Program in Computational Biology Carrer de Jordi Girona 29-31 Barcelona 08034 Spain Department of Medical Oncology Hospital General Universitario de Valencia Avenida Tres Cruces 2 València 46014 Spain Molecular Oncology Laboratory Fundación Hospital General Universitario de Valencia Avda. Tres Cruces s/n València 46014 Spain Department of Pathology Universitat de València Av. de Blasco Ibáñez 13 València 46010 Spain Program of Predictive and Personalized Medicine of Cancer (PMPPC) Institute for Health Science Research Germans Trias i Pujol (IGTP) Can Ruti Biomedical Campus Crta de Can Ruti Camí de les Escoles S/N Badalona 08916 Barcelona Spain ICREA Catalan Institution for Research and Advanced Studies Spain Division of Genome Biology National Cancer Center Research Institute 5-1-1 Tsukiji Chuo-ku Tokyo 104-0045 Japan Molecular Oncology Laboratory Fundación Hospital General Universitario de València Avda. Tres Cruces s/n València 46014 Spain Department of Biotechnology Universitat Politècnica de València Camí de Vera s/n València 46022 Spain Department of Medicine Universitat de València Av. de Blasco Ibáñez 13 València 46010 Spain Genomics and Bioinformatics. Program of Predictive and Personalized Medicine of Cancer (PMPPC) Institute for Health Science Research Germans Trias i Pujol (IGTP) Can Ruti Biomedical Campus Crta de Can Ruti Camí de les Escoles S/N Badalona 08916 Barcelona Spain Programs in Metabolism and Medical & Population Genetics Broad Institute of Harvard and MIT Cambridge Massachusetts United States Diabetes Unit and Center for Human Genetic Research Massachusetts General Hospital Boston Massachuse

Objective: The aim of the study was to investigate the relationship between germline variations as a prognosis biomarker in patients with advanced Non-Small-Cell-Lung-Cancer (NSCLC) subjected to first-line platinum-based treatment. Materials and Methods: We carried out a two-stage genome-wide-association study in non-small-cell lung cancer patients with platinum-based chemotherapy in an exploratory sample of 181 NSCLC patients from Caucasian origin, followed by a validation on 356 NSCLC patients from the same ancestry (Valencia, Spain). Results: We identified germline variants in SMYD2 as a prognostic factor for survival in patients with advanced NSCLC receiving chemotherapy. SMYD2 alleles are associated to a decreased overall survival and with a reduced Time to Progression. In addition, enrichment pathway analysis identified 361 variants in 40 genes to be involved in poorer outcome in advanced-stage NSCLC patients. Conclusion: Germline SMYD2 alleles are associated with bad clinical outcome of first-line platinum-based treatment in advanced NSCLC patients. This result supports the role of SMYD2 in the carcinogenic process, and might be used as prognostic signature directing patient stratification and the choice of therapy. A two-Stage Genome wide association study in Caucasian population reveals germline genetic variation in SMYD2 associated to progression disease in first-line platinum-based treatment in advanced NSCLC patients. SMYD2 profiling might have prognostic / predictive value directing choice of therapy and enlighten current knowledge on pathways involved in human carcinogenesis as well in resistance to chemotherapy. © 2018 The Authors

关键词： advanced stage Genome-Wide-Association Studies Lung cancer NSCLC Prognostic factors

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Subnational mapping of HIV incidence and mortality among individuals aged 15–49 years in sub-Saharan Africa, 2000–18: a modelling study

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The Lancet HIV 2021年第6期8卷 e363-e375页

作者： Sartorius, Benn VanderHeide, John D. Yang, Mingyou Goosmann, Erik A. Hon, Julia Haeuser, Emily Cork, Michael A. Perkins, Samantha Jahagirdar, Deepa Schaeffer, Lauren E. Serfes, Audrey L. LeGrand, Kate E. Abbastabar, Hedayat Abebo, Zeleke Hailemariam Abosetugn, Akine Eshete Abu-Gharbieh, Eman Accrombessi, Manfred Mario Kokou Adebayo, Oladimeji M. Adegbosin, Adeyinka Emmanuel Adekanmbi, Victor Adetokunboh, Olatunji O. Adeyinka, Daniel Adedayo Ahinkorah, Bright Opoku Ahmadi, Keivan Ahmed, Muktar Beshir Akalu, Yonas Akinyemi, Oluwaseun Oladapo Akinyemi, Rufus Olusola Aklilu, Addis Akunna, Chisom Joyqueenet Alahdab, Fares Al-Aly, Ziyad Alam, Noore Alamneh, Alehegn Aderaw Alanzi, Turki M. Alemu, Biresaw Wassihun Alhassan, Robert Kaba Ali, Tilahun Alipour, Vahid Amini, Saeed Ancuceanu, Robert Ansari, Fereshteh Anteneh, Zelalem Alamrew Anvari, Davood Anwer, Razique Appiah, Seth Christopher Yaw Arabloo, Jalal Asemahagn, Mulusew A. Asghari Jafarabadi, Mohammad Asmare, Wondwossen Niguse Atnafu, Desta Debalkie Atout, Maha Moh'd Wahbi Atreya, Alok Ausloos, Marcel Awedew, Atalel Fentahun Ayala Quintanilla, Beatriz Paulina Ayanore, Martin Amogre Aynalem, Yared Asmare Ayza, Muluken Altaye Azari, Samad Azene, Zelalem Nigussie Babar, Zaheer-Ud-Din Baig, Atif Amin Balakrishnan, Senthilkumar Banach, Maciej Bärnighausen, Till Winfried Basu, Sanjay Bayati, Mohsen Bedi, Neeraj Bekuma, Tariku Tesfaye Bezabhe, Woldesellassie M. Mequanint Bhagavathula, Akshaya Srikanth Bhardwaj, Pankaj Bhattacharyya, Krittika Bhutta, Zulfiqar A. Bibi, Sadia Bikbov, Boris Birhan, Tsegaye Adane Bitew, Zebenay Workneh Bockarie, Moses John Boloor, Archith Brady, Oliver J. Bragazzi, Nicola Luigi Briko, Andrey Nikolaevich Briko, Nikolay Ivanovich Burugina Nagaraja, Sharath Butt, Zahid A. Cárdenas, Rosario Carvalho, Felix Charan, Jaykaran Chatterjee, Souranshu Chattu, Soosanna Kumary Chattu, Vijay Kumar Chowdhury, Mohiuddin Ahsanul Kabir Chu, Dinh-Toi Cook, Aubrey J. Cormier, Natalie Maria Cowden, Richard G. Culquichicon, Carlos Dagnew, Baye Dahlawi, Saad M.A. D Centre for Tropical Medicine and Global Health Nuffield Department of Medicine University of Oxford Oxford United Kingdom Malaria Atlas Project University of Oxford Oxford United Kingdom The George Institute for Global Health University of Oxford Oxford United Kingdom Department of Health Metrics Sciences School of Medicine University of Washington Seattle WA United States Institute for Health Metrics and Evaluation University of Washington Seattle WA United States Department of Global Health University of Washington Seattle WA United States Department of Medicine University of Washington Seattle WA United States Insights Program Bill and Melinda Gates Foundation Seattle WA United States Global Programs Medical Teams International Seattle WA United States Department of Pediatric Newborn Medicine Brigham and Women's Hospital Boston MA United States Advanced Diagnostic and Interventional Radiology Research Center Tehran University of Medical Sciences Tehran Iran Multiple Sclerosis Research Center Tehran University of Medical Sciences Tehran Iran Department of Epidemiology and Biostatistics Tehran University of Medical Sciences Tehran Iran Pediatric Chronic Kidney Disease Research Center Tehran University of Medical Sciences Tehran Iran Department of Environmental Health Engineering Tehran University of Medical Sciences Tehran Iran Metabolomics and Genomics Research Center Tehran University of Medical Sciences Tehran Iran Research Center for Immunodeficiencies Tehran University of Medical Sciences Tehran Iran Department of Public Health Arba Minch University Arba Minch Ethiopia Department of Medical Laboratory Sciences Arba Minch University Arba Minch Ethiopia College of Medicine and Health Science Arba Minch University Arba Minch Ethiopia Department of Nursing Arba Minch University Arba Minch Ethiopia Department of Biomedical Sciences Arba Minch University Arba Minch Ethiopia Department of Public Health Debre Berhan University Debre Brehan

Background: High-resolution estimates of HIV burden across space and time provide an important tool for tracking and monitoring the progress of prevention and control efforts and assist with improving the precision and efficiency of targeting efforts. We aimed to assess HIV incidence and HIV mortality for all second-level administrative units across sub-Saharan Africa. Methods: In this modelling study, we developed a framework that used the geographically specific HIV prevalence data collected in seroprevalence surveys and antenatal care clinics to train a model that estimates HIV incidence and mortality among individuals aged 15–49 years. We used a model-based geostatistical framework to estimate HIV prevalence at the second administrative level in 44 countries in sub-Saharan Africa for 2000–18 and sought data on the number of individuals on antiretroviral therapy (ART) by second-level administrative unit. We then modified the Estimation and Projection Package (EPP) to use these HIV prevalence and treatment estimates to estimate HIV incidence and mortality by second-level administrative unit. Findings: The estimates suggest substantial variation in HIV incidence and mortality rates both between and within countries in sub-Saharan Africa, with 15 countries having a ten-times or greater difference in estimated HIV incidence between the second-level administrative units with the lowest and highest estimated incidence levels. Across all 44 countries in 2018, HIV incidence ranged from 2·8 (95% uncertainty interval 2·1–3·8) in Mauritania to 1585·9 (1369·4–1824·8) cases per 100 000 people in Lesotho and HIV mortality ranged from 0·8 (0·7–0·9) in Mauritania to 676·5 (513·6–888·0) deaths per 100 000 people in Lesotho. Variation in both incidence and mortality was substantially greater at the subnational level than at the national level and the highest estimated rates were accordingly higher. Among second-level administrative units, Guijá District, Gaza Province, Mozambique,

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Front Cover: Unbiased Discovery of Dynamic Peptide-ATP Complexes (ChemSystemsChem 1-2/2019)

ChemSystemsChem

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ChemSystemsChem 2019年第1-2期1卷 1-1页

作者： Daniela Kroiss Dr. James M. Aramini Scott A. McPhee Prof. Dr. Tell Tuttle Prof. Dr. Rein V. Ulijn Nanoscience Initiative at Advanced Science Research Center (ASRC) The Graduate Center of the City University of New York 85 St. Nicholas Terrace New York NY 10031 USA Ph.D. Programs in Biochemistry and Chemistry The Graduate Center of the City University of New York 365 Fifth Avenue New York NY 10016 USA Department of Chemistry Hunter College City University of New York 695 Park Avenue New York NY 10065 USA Structural Biology Initiative at ASRC The Graduate Center of the City University of New York 85 St. Nicholas Terrace New York NY 10031 USA WestCHEM and Department of Pure and Applied Chemistry University of Strathclyde 295 Cathedral Street Glasgow G1 1XL UK

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Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis (vol 50, pg 1072, 2018)

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NATURE GENETICS 2018年第9期50卷 1343-1343页

作者： Waage, Johannes Standl, Marie Curtin, John A. Jessen, Leon E. Thorsen, Jonathan Tian, Chao Schoettler, Nathan Flores, Carlos Abdellaoui, Abdel Ahluwalia, Tarunveer S. Alves, Alexessander C. Amaral, Andre F. S. Anto, Josep M. Arnold, Andreas Barreto-Luis, Amalia Baurecht, Hansjorg van Beijsterveldt, Catharina E. M. Bleecker, Eugene R. Bonas-Guarch, Silvia Boomsma, Dorret I. Brix, Susanne Bunyavanich, Supinda Burchard, Esteban G. Chen, Zhanghua Curjuric, Ivan Custovic, Adnan den Dekker, Herman T. Dharmage, Shyamali C. Dmitrieva, Julia Duijts, Liesbeth Ege, Markus J. Gauderman, W. James Georges, Michel Gieger, Christian Gilliland, Frank Granell, Raquel Gui, Hongsheng Hansen, Torben Heinrich, Joachim Henderson, John Hernandez-Pacheco, Natalia Holt, Patrick Imboden, Medea Jaddoe, Vincent W. V. Jarvelin, Marjo-Riitta Jarvis, Deborah L. Jensen, Kamilla K. Jonsdottir, Ingileif Kabesch, Michael Kaprio, Jaakko Kumar, Ashish Lee, Young-Ae Levin, Albert M. Li, Xingnan Lorenzo-Diaz, Fabian Melen, Erik Mercader, Josep M. Meyers, Deborah A. Myers, Rachel Nicolae, Dan L. Nohr, Ellen A. Palviainen, Teemu Paternoster, Lavinia Pennell, Craig E. Pershagen, Goran Pino-Yanes, Maria Probst-Hensch, Nicole M. Ruschendorf, Franz Simpson, Angela Stefansson, Kari Sunyer, Jordi Sveinbjornsson, Gardar Thiering, Elisabeth Thompson, Philip J. Torrent, Maties Torrents, David Tung, Joyce Y. Wang, Carol A. Weidinger, Stephan Weiss, Scott Willemsen, Gonneke Williams, L. Keoki Ober, Carole Hinds, David A. Ferreira, Manuel A. Bisgaard, Hans Strachan, David P. Bonnelykke, Klaus COPSAC Copenhagen Prospective Studies on Asthma in Childhood Herlev and Gentofte Hospital University of Copenhagen Copenhagen Denmark Institute of Epidemiology Helmholtz Zentrum München-German Research Center for Environmental Health Neuherberg Germany Division of Infection Immunity and Respiratory Medicine University of Manchester Manchester Academic Health Science Centre Manchester University NHS Foundation Trust Manchester UK 23andMe Inc. Mountain View CA USA Department of Human Genetics University of Chicago Chicago IL USA Research Unit Hospital Universitario N.S. de Candelaria Universidad de La Laguna Tenerife Spain CIBER de Enfermedades Respiratorias (CIBERES) Instituto de Salud Carlos III Madrid Spain Department of Biological Psychology Netherlands Twin Register VU University Amsterdam The Netherlands Department of Psychiatry Academic Medical Center University of Amsterdam Amsterdam The Netherlands Department of Epidemiology and Biostatistics MRC-PHE Centre for Environment & Health School of Public Health Imperial College London London UK Population Health and Occupational Disease National Heart and Lung Institute Imperial College London London UK ISGlobal Barcelona Spain IMIM (Hospital del Mar Medical Research Institute) Barcelona Spain Universitat Pompeu Fabra (UPF) Barcelona Spain CIBER Epidemiología y Salud Pública (CIBERESP) Barcelona Spain Clinic and Polyclinic of Dermatology University Medicine Greifswald Greifswald Germany Department of Dermatology Venereology and Allergology University-Hospital Schleswig-Hostein Campus Kiel Kiel Germany Divisions of Pharmacogenomics and Genetics Genomics and Precision Medicine Department of Medicine University of Arizona College of Medicine Tucson AZ USA Barcelona Supercomputing Center (BSC) Joint BSC-CRG-IRB Research Program in Computational Biology Barcelona Spain APH Amsterdam Public Health Amsterdam The Netherlands Department of Biotechnology and Biomedicine Technical University of Denma

Allergic rhinitis is the most common clinical presentation of allergy, affecting 400 million people worldwide, with increasing incidence in westernized countries1,2. To elucidate the genetic architecture and understan... 详细信息

Allergic rhinitis is the most common clinical presentation of allergy, affecting 400 million people worldwide, with increasing incidence in westernized countries^1,2. To elucidate the genetic architecture and understand the underlying disease mechanisms, we carried out a meta-analysis of allergic rhinitis in 59,762 cases and 152,358 controls of European ancestry and identified a total of 41 risk loci for allergic rhinitis, including 20 loci not previously associated with allergic rhinitis, which were confirmed in a replication phase of 60,720 cases and 618,527 controls. Functional annotation implicated genes involved in various immune pathways, and fine mapping of the HLA region suggested amino acid variants important for antigen binding. We further performed genome-wide association study (GWAS) analyses of allergic sensitization against inhalant allergens and nonallergic rhinitis, which suggested shared genetic mechanisms across rhinitis-related traits. Future studies of the identified loci and genes might identify novel targets for treatment and prevention of allergic rhinitis.

关键词： Allergy Genome-wide association studies

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Global, regional, and national sex-specific burden and control of the HIV epidemic, 1990–2019, for 204 countries and territories: the Global Burden of Diseases Study 2019

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The Lancet HIV 2021年第10期8卷 e633-e651页

作者： Jahagirdar, Deepa Walters, Magdalene K. Novotney, Amanda Brewer, Edmond D. Frank, Tahvi D. Carter, Austin Biehl, Molly H. Abbastabar, Hedayat Abhilash, E.S. Abu-Gharbieh, Eman Abu-Raddad, Laith Jamal Adekanmbi, Victor Adeyinka, Daniel Adedayo Adnani, Qorinah Estiningtyas Sakilah Afzal, Saira Aghababaei, Soodabeh Ahinkorah, Bright Opoku Ahmad, Sajjad Ahmadi, Keivan Ahmadi, Sepideh Ahmadpour, Ehsan Ahmed, Muktar Beshir Rashid, Tarik Ahmed Salih, Yusra Ahmed Aklilu, Addis Akram, Tayyaba Akunna, Chisom Joyqueenet Al Hamad, Hanadi Alahdab, Fares Alanezi, Fahad Mashhour Aleksandrova, Ekaterina A. Alene, Kefyalew Addis Ali, Liaqat Alipour, Vahid Almustanyir, Sami Alvis-Guzman, Nelson Ameyaw, Edward Kwabena Amu, Hubert Andrei, Catalina Liliana Andrei, Tudorel Anvari, Davood Arabloo, Jalal Aremu, Olatunde Arulappan, Judie Atnafu, Desta Debalkie Quintanilla, Beatriz Paulina Ayala Ayza, Muluken Altaye Azari, Samad Darshan, B.B. Banach, Maciej Bärnighausen, Till Winfried Barra, Fabio Barrow, Amadou Basu, Sanjay Bazargan-Hejazi, Shahrzad Belay, Habtamu Gebrehana Berheto, Tezera Moshago Bezabhe, Woldesellassie Mequanint Bezabih, Yihienew Mequanint Bhagavathula, Akshaya Srikanth Bhardwaj, Nikha Bhardwaj, Pankaj Bhattacharyya, Krittika Bibi, Sadia Bijani, Ali Bisignano, Catherine Bolarinwa, Obasanjo Afolabi Boloor, Archith Boltaev, Azizbek A. Briko, Nikolay Ivanovich Buonsenso, Danilo Burkart, Katrin Butt, Zahid A. Cao, Chao Charan, Jaykaran Chatterjee, Souranshu Chattu, Soosanna Kumary Chattu, Vijay Kumar Choudhari, Sonali Gajanan Chu, Dinh-Toi Couto, Rosa A.S. Cowden, Richard G. Dachew, Berihun Assefa Dadras, Omid Dagnew, Amare Belachew Dahlawi, Saad M.A. Dai, Xiaochen Dandona, Lalit Dandona, Rakhi das Neves, José Degenhardt, Louisa Demeke, Feleke Mekonnen Desta, Abebaw Alemayehu Deuba, Keshab Dhamnetiya, Deepak Dhungana, Govinda Prasad Dianatinasab, Mostafa Diaz, Daniel Djalalinia, Shirin Doan, Linh Phuong Dorostkar, Fariba Edinur, Hisham Atan Effiong, Andem Eftekharzadeh, Sahar El Sayed Zaki, Maysaa Elayedath, Rajesh Elhadi, Institute for Health Metrics and Evaluation University of Washington Seattle WA United States Department of Health Metrics Sciences School of Medicine University of Washington Seattle WA United States Division of Allergy and Infectious Diseases University of Washington Seattle WA United States Department of Global Health University of Washington Seattle WA United States School of Social Work University of Washington Seattle WA United States Department of Medicine University of Washington Seattle WA United States Vagelos College of Physicians and Surgeones Columbia University Medical Center New York NY United States Division of Data Analytics and Delivery for Impact WHO Geneva Switzerland Advanced Diagnostic and Interventional Radiology Research Centre Tehran University of Medical Sciences Tehran Iran Multiple Sclerosis Research Centre Tehran University of Medical Sciences Tehran Iran School of Public Health Tehran University of Medical Sciences Tehran Iran Department of Epidemiology and Biostatistics Tehran University of Medical Sciences Tehran Iran Paediatric Chronic Kidney Disease Research Centre Tehran University of Medical Sciences Tehran Iran Department of Psychiatry Tehran University of Medical Sciences Tehran Iran Metabolomics and Genomics Research Centre Tehran University of Medical Sciences Tehran Iran Sina Trauma and Surgery Research Centre Tehran University of Medical Sciences Tehran Iran Research Centre for Immunodeficiencies Tehran University of Medical Sciences Tehran Iran Non-Communicable Diseases Research Centre Tehran University of Medical Sciences Tehran Iran Department of Botany Sree Narayana Guru College Chelannur Kozhikode India Clinical Sciences Department University of Sharjah Sharjah United Arab Emirates Mass Communication Department University of Sharjah Sharjah United Arab Emirates Department of Health-Care Policy and Research Weill Cornell Medical College in Qatar Doha Qatar Department of Population Medicine Ca

Background: The sustainable development goals (SDGs) aim to end HIV/AIDS as a public health threat by 2030. Understanding the current state of the HIV epidemic and its change over time is essential to this effort. This study assesses the current sex-specific HIV burden in 204 countries and territories and measures progress in the control of the epidemic. Methods: To estimate age-specific and sex-specific trends in 48 of 204 countries, we extended the Estimation and Projection Package Age-Sex Model to also implement the spectrum paediatric model. We used this model in cases where age and sex specific HIV-seroprevalence surveys and antenatal care-clinic sentinel surveillance data were available. For the remaining 156 of 204 locations, we developed a cohort-incidence bias adjustment to derive incidence as a function of cause-of-death data from vital registration systems. The incidence was input to a custom Spectrum model. To assess progress, we measured the percentage change in incident cases and deaths between 2010 and 2019 (threshold >75% decline), the ratio of incident cases to number of people living with HIV (incidence-to-prevalence ratio threshold <0·03), and the ratio of incident cases to deaths (incidence-to-mortality ratio threshold <1·0). Findings: In 2019, there were 36·8 million (95% uncertainty interval [UI] 35·1–38·9) people living with HIV worldwide. There were 0·84 males (95% UI 0·78–0·91) per female living with HIV in 2019, 0·99 male infections (0·91–1·10) for every female infection, and 1·02 male deaths (0·95–1·10) per female death. Global progress in incident cases and deaths between 2010 and 2019 was driven by sub-Saharan Africa (with a 28·52% decrease in incident cases, 95% UI 19·58–35·43, and a 39·66% decrease in deaths, 36·49–42·36). Elsewhere, the incidence remained stable or increased, whereas deaths generally decreased. In 2019, the global incidence-to-prevalence ratio was 0·05 (95% UI 0·05–0·06) and the global incidence-to-mortality ratio was

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Corrigendum to: More Than Smell-COVID-19 Is Associated With Severe Impairment of Smell, Taste, and Chemesthesis

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Chemical senses 2021年第46期46卷 bjab050页

作者： Valentina Parma Kathrin Ohla Maria G Veldhuizen Masha Y Niv Christine E Kelly Alyssa J Bakke Keiland W Cooper Cédric Bouysset Nicola Pirastu Michele Dibattista Rishemjit Kaur Marco Tullio Liuzza Marta Y Pepino Veronika Schöpf Veronica Pereda-Loth Shannon B Olsson Richard C Gerkin Paloma Rohlfs Domínguez Javier Albayay Michael C Farruggia Surabhi Bhutani Alexander W Fjaeldstad Ritesh Kumar Anna Menini Moustafa Bensafi Mari Sandell Iordanis Konstantinidis Antonella Di Pizio Federica Genovese Lina Öztürk Thierry Thomas-Danguin Johannes Frasnelli Sanne Boesveldt Özlem Saatci Luis R Saraiva Cailu Lin Jérôme Golebiowski Liang-Dar Hwang Mehmet Hakan Ozdener Maria Dolors Guàrdia Christophe Laudamiel Marina Ritchie Jan Havlícek Denis Pierron Eugeni Roura Marta Navarro Alissa A Nolden Juyun Lim Katherine L Whitcroft Lauren R Colquitt Camille Ferdenzi Evelyn V Brindha Aytug Altundag Alberto Macchi Alexia Nunez-Parra Zara M Patel Sébastien Fiorucci Carl M Philpott Barry C Smith Johan N Lundström Carla Mucignat Jane K Parker Mirjam van den Brink Michael Schmuker Florian Ph S Fischmeister Thomas Heinbockel Vonnie D C Shields Farhoud Faraji Enrique Santamaría William E A Fredborg Gabriella Morini Jonas K Olofsson Maryam Jalessi Noam Karni Anna D'Errico Rafieh Alizadeh Robert Pellegrino Pablo Meyer Caroline Huart Ben Chen Graciela M Soler Mohammed K Alwashahi Antje Welge-Lüssen Jessica Freiherr Jasper H B de Groot Hadar Klein Masako Okamoto Preet Bano Singh Julien W Hsieh Danielle R Reed Thomas Hummel Steven D Munger John E Hayes Department of Psychology Temple University Philadelphia PA USA. Institute of Neuroscience and Medicine (INM-3) Research Center Jülich Wilhelm-Johnen-Straße Jülich Germany. Department of Anatomy Faculty of Medicine Mersin University Çiftlikköy Campus Yenişehir Mersin Turkey. Institute of Biochemistry Food Science and Nutrition The Hebrew University of Jerusalem Rehovot Israel. AbScent Andover Hampshire UK. Department of Food Science The Pennsylvania State University Erickson Food Science Building University Park PA USA. Center for the Neurobiology of Learning and Memory University of California and Qureshey Research Laboratory Irvine CA USA. Institut de Chimie de Nice UMR CNRS 7272 Université Côte d'Azur Avenue Valrose Nice France. Centre for Global Health Research Usher Institute The University of Edinburgh Old Medical School Teviot Place Edinburgh UK. Department of Basic Medical Sciences Neuroscience and Sensory Organs Università degli Studi di Bari A. Moro P.zza G. Cesare Bari Italy. CSIR-Central Scientific Instruments Organisation Chandigarh India. Department of Medical and Surgical Sciences "Magna Graecia" University of Catanzaro Viale Europa (Loc. Germaneto) Catanzaro Italy. Department of Food Science and Human Nutrition and Division of Nutritional Sciences University of Illinois at Urbana Champaign Urbana IL USA. Department of Biomedical Imaging and Image-guided Therapy Medical University of Vienna Währinger Gürtel Vienna Austria. Laboratoire d'Anthropologie Moléculaire et Imagerie de Synthese UMR 5288 CNRS Universitéde Toulouse Toulouse France. National Centre for Biological Sciences Tata Institute of Fundamental Research GKVK Campus Bengaluru India. School of Life Sciences Arizona State University Tempe AZ USA. Department of Psychology and Anthropology University of Extremadura Avenida de la Universidad s/n Cáceres Spain. Department of General Psychology University of Padova Via Venezia Padova Italy. Department of Psychiatry

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Protective association ofHLA-DRB1*04 subtypes in neurodegenerative diseases implicates acetylated tau PHF6 sequences

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Alzheimer's & Dementia 2022年第S3期18卷

作者： Yann Le Guen Guo Luo Aditya Ambati Vincent Damotte Iris E Jansen Eric Yu Aude Nicolas Itziar de Rojas Thiago Peixoto Leal Akinori Miyashita Céline Bellenguez Michelle Mulan Lian Kayenat Parveen Takashi Morizono Hyeonseul Park Benjamin Grenier-Boley Tatsuhiko Naito Fahri Küçükali Seth D. Talyansky Selina Marie Yogeshwar Vicente Sempere Wataru Satake Victoria Álvarez-Martínez Beatrice Arosio Michael E Belloy Luisa Benussi Anne Boland Barbara Borroni María J. Bullido Paolo Caffarra Jordi Clarimon Antonio Daniele Daniel Darling Stéphanie Debette Jean-François Deleuze Martin Dichgans Carole Dufouil Emmanuel During Emrah Duzel Daniela Galimberti Guillermo García-Ribas Jose María García-Alberca Pablo García-González Vilmantas Giedraitis Oliver Goldhardt Caroline Graff Edna Grunblatt Olivier Hanon Lucrezia Hausner Stefanie Heilmann-Heimbach Henne Holstege Jakub Hort Yoo Jin Jung Deckert Jurgen Silke Kern Teemu Kuulasmaa Kun Ho Lee Ling Ling Carlo Masullo Patrizia Mecocci Shima Mehrabian Alexandre de Mendonça Mercè Boada Pablo Mir Susanne Moebus Fermin Moreno Benedetta Nacmias Gaël Nicolas Shumpei Niida Børge G. Nordestgaard Goran Papenberg Janne M. Papma Lucilla Parnetti Florence Pasquier Pau Pastor Oliver Peters Yolande A.L. Pijnenburg Gerard Piñol-Ripoll Julius Popp Laura Molina Raquel Puerta Jordi Pérez-Tur Innocenzo Rainero Luis Miguel Real Steffi G. Riedel-Heller Eloy Rodríguez Rodríguez José Luís Royo Dan Rujescu Nikolaos Scarmeas Philip Scheltens Norbert Scherbaum Anja Schneider Davide Seripa Ingmar Skoog Vincenzo Solfrizzi Gianfranco Spalletta Alessio Squassina John C van Swieten Raquel Sanchez-Valle Eng-King Tan Thomas Tegos Charlotte E. Teunissen Jesper Qvist Thomassen Lucio Tremolizzo Martin Vyhnalek Frans R.J. Verhey Margda Waern Jens Wiltfang Jing Zhang Henrik Zetterberg Kaj Blennow Julie Williams Philippe Amouyel Frank Jessen Patrick G Kehoe Ole Andreassen Cornelia M van Duijn Magda Tsolaki Pascual Sanchez-Juan Ruth Frikke-Schmidt Kristel Sleegers Tatsushi Toda Anna Zettergren Martin Ingelsson Yukinori Okad Stanford University Stanford CA USA Institut du Cerveau - Paris Brain Institute - ICM Paris CA France UMR1167 Université de Lille Inserm CHU Lille Institut Pasteur de Lille Lille France Alzheimer Center Amsterdam Department of Neurology Amsterdam Neuroscience Vrije Universiteit Amsterdam Amsterdam UMC Amsterdam Netherlands The Neuro (Montreal Neurological Institute-Hospital) McGill University Montreal QC Canada Univ. Lille Inserm CHU Lille Institut Pasteur de Lille U1167-RID-AGE Facteurs de risque et déterminants moléculaires des maladies liées au vieillissement F-59000 Lille France Research Center and Memory Clinic Fundació ACE Institut Català de Neurociències Aplicades - Universitat Internacional de Catalunya (UIC) Barcelona Spain Genomic Medicine Lerner Research Institute Cleveland Clinic Cleveland OH USA Department of Molecular Genetics Brain Research Institute Niigata University Niigata Japan Lee Kong Chian School of Medicine Nanyang Technological University Singapore Singapore Singapore Division of Neurogenetics and Molecular Psychiatry Department of Psychiatry and Psychotherapy Faculty of Medicine and University Hospital Cologne University of Cologne Cologne Germany Medical Genome Center Research Institute National Center for Geriatrics and Gerontology Obu Aichi Japan Department of Biomedical Science Chosun University Gwangju Korea Republic of (South) Department of Statistical Genetics Osaka University Graduate School of Medicine Sutia Japan VIB Center for Molecular Neurology VIB Antwerp Belgium Department of Neurology Graduate School of Medicine The University of Tokyo Tokyo Japan Hospital Universitario Central de Asturias Oviedo Spain Department of Clinical Sciences and Community Health University of Milan 20122 Milan Italy Milan Italy IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli Brescia Italy Université Paris-Saclay Centre National de Génotypage Institut de Génomique / CEA Evry France Centre for Neurodegenerati

Background Alzheimer’s disease (AD), Parkinson’s disease (PD), Amyotrophic Lateral Sclerosis (ALS) and other neurodegenerative diseases are responsible for considerable morbidity and mortality. With incidence rising with aging, these also represent a growing societal challenge. Pathophysiology involves accumulation of tau (neurofibrillary tangles) and Amyloid-β-rich (amyloid plaques) aggregates in AD, α-synuclein-rich aggregates (Lewy bodies) in PD and TDP-43 aggregates in ALS, although co-presence of these aggregates may occur. Consensus is also growing that tau may also play a key role in PD and ALS. Method Using genome-wide association data, we analyzed Human Leukocyte Antigen (HLA) associations in over 176,000 individuals with PD or Alzheimer’s AD disease versus controls across ancestry groups. Result A shared genetic association was observed across diseases at rs601945 (PD: odds ratio (OR)=0.84; 95% confidence interval, [0.80; 0.88]; p=2.2x10 -13 ; AD: OR=0.91[0.89; 0.93]; p=1.8x10 -22 ), and with a protective HLA association recently reported in ALS. Hierarchical protective effects of HLA-DRB1 *04 subtypes best accounted for the association, strongest with HLA-DRB1 *04:04 and HLA-DRB1 *04:07, intermediary with HLA-DRB1 *04:01 and HLA-DRB1 *04:03, and absent for HLA-DRB1 *04:05. The same signal was associated with decreased neurofibrillary tangles (but not neuritic plaque density) in postmortem brains and was more strongly associated with tau levels than Aβ42 levels in the cerebrospinal fluid. Finally, protective HLA-DRB1 *04 subtypes strongly bound the aggregation-prone tau PHF6 sequence, but only when acetylated at K311, a modification central to aggregation. Conclusion An HLA-DRB1 *04-mediated adaptive immune response, potentially against tau, decreases PD, AD and ALS risk, offering the possibility of new therapeutic avenues.

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Author Correction: Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function

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Nature communications 2019年第1期10卷 2068页

作者： Gail Davies Max Lam Sarah E Harris Joey W Trampush Michelle Luciano W David Hill Saskia P Hagenaars Stuart J Ritchie Riccardo E Marioni Chloe Fawns-Ritchie David C M Liewald Judith A Okely Ari V Ahola-Olli Catriona L K Barnes Lars Bertram Joshua C Bis Katherine E Burdick Andrea Christoforou Pamela DeRosse Srdjan Djurovic Thomas Espeseth Stella Giakoumaki Sudheer Giddaluru Daniel E Gustavson Caroline Hayward Edith Hofer M Arfan Ikram Robert Karlsson Emma Knowles Jari Lahti Markus Leber Shuo Li Karen A Mather Ingrid Melle Derek Morris Christopher Oldmeadow Teemu Palviainen Antony Payton Raha Pazoki Katja Petrovic Chandra A Reynolds Muralidharan Sargurupremraj Markus Scholz Jennifer A Smith Albert V Smith Natalie Terzikhan Anbupalam Thalamuthu Stella Trompet Sven J van der Lee Erin B Ware B Gwen Windham Margaret J Wright Jingyun Yang Jin Yu David Ames Najaf Amin Philippe Amouyel Ole A Andreassen Nicola J Armstrong Amelia A Assareh John R Attia Deborah Attix Dimitrios Avramopoulos David A Bennett Anne C Böhmer Patricia A Boyle Henry Brodaty Harry Campbell Tyrone D Cannon Elizabeth T Cirulli Eliza Congdon Emily Drabant Conley Janie Corley Simon R Cox Anders M Dale Abbas Dehghan Danielle Dick Dwight Dickinson Johan G Eriksson Evangelos Evangelou Jessica D Faul Ian Ford Nelson A Freimer He Gao Ina Giegling Nathan A Gillespie Scott D Gordon Rebecca F Gottesman Michael E Griswold Vilmundur Gudnason Tamara B Harris Annette M Hartmann Alex Hatzimanolis Gerardo Heiss Elizabeth G Holliday Peter K Joshi Mika Kähönen Sharon L R Kardia Ida Karlsson Luca Kleineidam David S Knopman Nicole A Kochan Bettina Konte John B Kwok Stephanie Le Hellard Teresa Lee Terho Lehtimäki Shu-Chen Li Christina M Lill Tian Liu Marisa Koini Edythe London Will T Longstreth Oscar L Lopez Anu Loukola Tobias Luck Astri J Lundervold Anders Lundquist Leo-Pekka Lyytikäinen Nicholas G Martin Grant W Montgomery Alison D Murray Anna C Need Raymond Noordam Lars Nyberg William Ollier Goran Papenberg Alison Pattie Ozren Polasek Russell A Poldrack Bruce M Psaty Sim Centre for Cognitive Ageing and Cognitive Epidemiology Department of Psychology School of Philosophy Psychology and Language Sciences The University of Edinburgh Edinburgh EH8 9JZ UK. Institute of Mental Health Singapore 539747 Singapore. Medical Genetics Section Centre for Genomic & Experimental Medicine MRC Institute of Genetics & Molecular Medicine University of Edinburgh Western General Hospital Edinburgh EH4 2XU UK. BrainWorkup LLC Los Angeles 90033 CA USA. Department of Psychiatry and Behavioral Sciences Keck School of Medicine University of Southern California Los Angeles 90033 CA USA. Social Genetic and Developmental Psychiatry Centre Institute of Psychiatry Psychology & Neuroscience King's College London De Crespigny Park Denmark Hill London SE5 8AF UK. Research Centre of Applied and Preventive Cardiovascular Medicine University of Turku Turku 20520 Finland. Department of Internal Medicine Satakunta Central Hospital Pori 28100 Finland. Centre for Global Health Research Usher Institute of Population Health Sciences and Informatics University of Edinburgh Teviot Place Edinburgh EH8 9AG Scotland. Max Planck Institute for Molecular Genetics Berlin 14195 Germany. Cardiovascular Health Research Unit Department of Medicine University of Washington Seattle 98101 Washington USA. Department of Psychiatry Icahn School of Medicine at Mount Sinai New York 10029 NY USA. Mental Illness Research Education and Clinical Center (VISN 3) James J. Peters VA Medical Center Bronx 10468 NY USA. Department of Psychiatry Brigham and Women's Hospital Harvard Medical School Boston 02115 MA USA. NORMENT K.G. Jebsen Centre for Psychosis Research Department of Clinical Science University of Bergen Bergen 5021 Norway. Dr. Einar Martens Research Group for Biological Psychiatry Center for Medical Genetics and Molecular Medicine Haukeland University Hospital Bergen 5020 Norway. Center for Psychiatric Neuroscience Feinstein Institute for Medical Resea

Christina M. Lill, who contributed to analysis of data, was inadvertently omitted from the author list in the originally published version of this article. This has now been corrected in both the PDF and HTML versions...

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26th Annual Computational Neuroscience Meeting (CNS*2017): Part 3 Antwerp, Belgium. 15-20 July 2017 Abstracts

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BMC NEUROscience 2017年第SUPPL 1期18卷 95-176页

作者： [Anonymous] Department of Neuroscience Yale University New Haven CT 06520 USA Department Physiology & Pharmacology SUNY Downstate Brooklyn NY 11203 USA NYU School of Engineering 6 MetroTech Center Brooklyn NY 11201 USA Departament de Matemàtica Aplicada Universitat Politècnica de Catalunya Barcelona 08028 Spain Institut de Neurobiologie de la Méditerrannée (INMED) INSERM UMR901 Aix-Marseille Univ Marseille France Center of Neural Science New York University New York NY USA Aix-Marseille Univ INSERM INS Inst Neurosci Syst Marseille France Laboratoire de Physique Théorique et Modélisation CNRS UMR 8089 Université de Cergy-Pontoise 95300 Cergy-Pontoise Cedex France Department of Mathematics and Computer Science ENSAT Abdelmalek Essaadi’s University Tangier Morocco Laboratory of Natural Computation Department of Information and Electrical Engineering and Applied Mathematics University of Salerno 84084 Fisciano SA Italy Department of Medicine University of Salerno 84083 Lancusi SA Italy Dipartimento di Fisica Università degli Studi Aldo Moro Bari and INFN Sezione Di Bari Italy Data Analysis Department Ghent University Ghent Belgium Coma Science Group University of Liège Liège Belgium Cruces Hospital and Ikerbasque Research Center Bilbao Spain BIOtech Department of Industrial Engineering University of Trento and IRCS-PAT FBK 38010 Trento Italy Department of Data Analysis Ghent University Ghent 9000 Belgium The Wellcome Trust Centre for Neuroimaging University College London London WC1N 3BG UK Department of Electronic Engineering NED University of Engineering and Technology Karachi Pakistan Blue Brain Project École Polytechnique Fédérale de Lausanne Lausanne Switzerland Departement of Mathematics Swansea University Swansea Wales UK Laboratory for Topology and Neuroscience at the Brain Mind Institute École polytechnique fédérale de Lausanne Lausanne Switzerland Institute of Mathematics University of Aberdeen Aberdeen Scotland UK Department of Integrativ

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26th Annual Computational Neuroscience Meeting (CNS*2017) of the Organization for Computational Neuroscience Antwerp, Belgium, July 15-20, 2017

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BMC NEUROscience 2017年第SUPPL 1期18卷 59-59页

作者： [Anonymous] Indiana University Purdue University Indianapolis Indianapolis IN 46032 USA Stark Neurosciences Research Institute Indiana University School of Medicine Indianapolis IN 46032 USA Department of Mathematics East Carolina University Greenville NC 27858 USA Jülich Supercomputing Centre Forschungszentrum Jülich 52425 Jülich Germany Future Systems Swiss National Supercomputing Centre 8092 Zurich Switzerland User Engagement and Support Swiss National Supercomputing Centre 6900 Lugano Switzerland Institut de Neurosciences des Systèmes Aix Marseille Univ 13005 Marseille France Simulation Lab Neuroscience Forschungszentrum Jülich Jülich Germany Department of Experimental Psychology Ghent University 9000 Ghent Belgium Donders Center for Cognitive Neuroimaging Radboud University 6525HR Nijmegen The Netherlands Department of Electrical Computer and Energy Engineering University of Colorado Boulder CO 80309 USA Department of Neurosurgery Johns Hopkins School of Medicine Baltimore MD 21287 USA Department of Neurology Johns Hopkins School of Medicine Baltimore MD 21287 USA Department of Otolaryngology Johns Hopkins School of Medicine Baltimore MD 21287 USA INSERM U968 Paris France Sorbonne Universités UPMC University Paris 06 UMR_S 968 Institut de la Vision Paris France CNRS UMR_7210 Paris France Department of Computer Architecture and Technology University of Granada (CITIC) Granada Spain Sorbonne Universités UPMC Univ Paris 06 INSERM CNRS Institut de la Vision Paris France Department of Adaptive Machine Systems Osaka University Osaka Japan Department of Computer Science University of Cergy-Pontoise Cergy-Pontoise France Department of Physics and Astronomy College of Charleston Charleston SC 29424 USA School of Physics Faculty of Science University of Sydney Sydney NSW 2006 Australia Center of Excellence for Integrative Brain Function Australian Research Council Sydney Australia Max Planck Institute for Human Cognitive and Brain Sciences Saxony Lei

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