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Abstracts for the 6th Congress of Asian Sleep Research Society

Sleep and Biological Rhythms 2009年第4期7卷 A1-A49页

作者： Seog Ju Kim In Kyoon Lyoo Yu-Jin Lee Do-Un Jeong Hirohiko Kanai Masanori Ookubo Atsushi Yoshimura Masako Okawa Noto Yamada Takeshi Munezawa Yoshitaka Kaneita Yoneatsu Osaki Hideyuki Kanda Tadahiro Ohtsu Masumi Minowa Kenji Suzuki Susumu Hijuchi Hiroyuki Suzuki Takashi Ohida Takashi Abe Yoko Komada Shoichi Asaoka Yuichi Inoue Jin-Seong Lee Sang-Yong Cho Deependra Kumar Hruda N. Mallick Velayudhan M. Kumar Mahesh K. Kaushik Akihiro Karashima Noiihiro Katayama Mitsuyuki Nakao Ravindra P. Nagendra Sathiamma Sulekha Sathyaprabha T. Narasappa Pradhan Nityanadan Bindu M. Kutty M. Nirmala P. N. Ravindra Basavaraj Ramappa Tubaki T. N. Sathyaprabha D. Sudhakar G. S. Lavekar C. R. Chandrashekar Kazuyoshi Kitaoka Mika Shimizu Sachiko Chikahisa Kazuo Yoshizaki Hiroyoshi Sei Jong-Won Kim Misa Takegami Shin Yamazaki Yasuaki Hayashino Rei Ono Koji Otani Miho Sekiguchi Shinichi Konno Shunichi Fukuhara Antonia J. Jakobson Paul Fitzgerald Russell Conduit Xin Shirley Li Siu Ping Joyce Lam Wai Man Mandy Yu Yun Kwok Wing Kazue Okamoto-Mizuno Koh Mizuno Mituaki Yamamoto Shuichiro Shirakawa Hirokazu Doi Mikako Kato Kazuyuki Shinohara Masako Tamaki Shiori Matsuda Katsuo Yamazaki Tadao Hori Keiko Ogawa Kazumi Takahashi Kunio Kitahama Katuo Yamazaki Yoshimasa Koyama Kohei Shioda Yugo Ueda Yukiko Nakamura Clara Inoue Kazushige Goto Sunao Uchida Yuko Morita Yoshiko Honda Tohru Kodama Mari Hagihara Toru Nakajima Masato Saito Yoshihiko Koga Shinichiro Tanaka Hiroshi Yamadera Madoka Takahara Sachiko Suwa Minoru Onozuka Sadao Sato Fumiharu Togo Taiki Komatsu Takeshi Mitani Jongbae Choi Bin Zhang Taeko Sasai Hiromi Mitsubayashi Mitsuhiro Ohtsu Isao Hasegawa Tatsuya Ishii Akira Komori Asami Suzuki Yue Nakahara Mitsuyasu Hiroki Mariko Nakauma Nobuo Someya Tomomasa Ochiai Shouhei Komori Rayleigh Ping-Ying Chiang Zai-Ting Yeh Seong T. Kim Seung H. Yoon Jeong S. Kwon Jong H. Choi Hyung J. Ahn Youngsoo Kim Bolortuya Yunren Lichao Chen Radhika Basheer Robert W. Mccarley Robert E. Strecker Makoto Honda Tetsuaki Arai Miyuki Fukazawa Yutaka Honda Kuniaki T Department of Psychiatry Gachon University of Medicine and Science Incheon Republic of Korea Department of Psychiatry Seoul National University Seoul Republic of Korea Department of Neuropsychiatry and Center for Sleep and Chronobiology Seoul National University Hospital Seoul Republic of Korea Department of Neuropsychiatry Seoul National University Hospital Seoul Republic of Korea Seoul National University Hospital Seoul Republic of Korea Department of Psychiatry Shiga University of Medical Science Otsu Japan Division of Public Health Department of Social Medicine Nihon University School of Medicine Tokyo Japan Department of Public Health Nihon University School of Medicine Tokyo Japan Division of Environmental and Preventive Medicine Department of Social Medicine Faculty of Medicine Tottori University Yonago Japan Department of Hygiene and Preventive Medicine Fukushima Medical University Fukushima Japan Department of Public Health Showa University School of Medicine Tokyo Japan Faculty of Humanities Seitoku University Matsudo Japan Section on Behavioral Science Division of Clinical Research National Hospital Organization Kurihama Alcoholism Center Yokosuka Japan Department of Otolaryngology Second Hospital Fujita Health University Nagoya Japan National Hospital Organization Kurihama Alcoholism Center Kanagawa Japan Metropolitan Police Department Criminal Investigation Laboratory Tokyo Japan Japan Somnology Center Neuropsychiatrie Research Institute Tokyo Japan Department of Somnology Tokyo Medical University Tokyo Japan Japan Somnology Center Neuropsychiatric Research Institute Tokyo Japan Department of Somnology Tokyo Medical and Dental University Tokyo Japan Center for Sleep and Chronobiology Department of Psychiatry and Behavioral Science Seoul National University College of Medicine Seoul Republic of Korea Department of Psychiatry and Behavioral Science Center for Sleep and Chronobiology Seoul Republic of Korea Department of Physiology Al

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Patterns of somatic structural variation in human cancer genomes (vol 578, pg 112, 2020)

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NATURE 2023年第7948期614卷 E38-E38页

作者： Li, Yilong Roberts, Nicola D. Wala, Jeremiah A. Shapira, Ofer Schumacher, Steven E. Kumar, Kiran Khurana, Ekta Waszak, Sebastian Korbel, Jan O. Haber, James E. Imielinski, Marcin Weischenfeldt, Joachim Beroukhim, Rameen Campbell, Peter J. Cancer Genome Project Wellcome Trust Sanger Institute Hinxton UK Totient Inc Cambridge MA USA Wellcome Sanger Institute Wellcome Genome Campus Hinxton UK Department of Haematology University of Cambridge Cambridge UK Cambridge University Hospitals NHS Foundation Trust Cambridge UK Korea Advanced Institute of Science and Technology Daejeon South Korea Department of Zoology Genetics and Physical Anthropology University of Santiago de Compostela Santiago de Compostela Spain Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS) University of Santiago de Compostela Santiago de Compostela Spain The Biomedical Research Centre (CINBIO) University of Vigo Vigo Spain Centre for Research in Molecular Medicine and Chronic Diseases (CiMUS) Universidade de Santiago de Compostela Santiago de Compostela Spain Department of Zoology Genetics and Physical Anthropology (CiMUS) Universidade de Santiago de Compostela Santiago de Compostela Spain The Biomedical Research Centre (CINBIO) Universidade de Vigo Vigo Spain The Broad Institute of Harvard and MIT Cambridge MA USA Bioinformatics and Integrative Genomics Harvard University Cambridge MA USA Department of Cancer Biology Dana-Farber Cancer Institute Boston MA USA Broad Institute of MIT and Harvard Cambridge MA USA Department of Medical Oncology Dana-Farber Cancer Institute Boston MA USA Harvard Medical School Boston MA USA Massachusetts General Hospital Center for Cancer Research Charlestown MA USA Dana-Farber Cancer Institute Boston MA USA Department of Biostatistics and Computational Biology Dana-Farber Cancer Institute and Harvard Medical School Boston MA USA Weill Cornell Medical College 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 Ne

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Fungal diversity notes 253-366:taxonomic and phylogenetic contributions to fungal taxa

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Fungal Diversity 2016年第3期78卷 1-237页

作者： Guo Jie Li Kevin D.Hyde Rui Lin Zhao Sinang Hongsanan Faten Awad Abdel-Aziz Mohamed A.Abdel-Wahab Pablo Alvarado Genivaldo Alves-Silva Joseph F.Ammirati Hiran A.Ariyawansa Abhishek Baghela Ali Hassan Bahkali Michael Beug D.Jayarama Bhat Dimitar Bojantchev Thitiya Boonpratuang Timur S.Bulgakov Erio Camporesi Marcela CBoro Oldriska Ceska Dyutiparna Chakraborty Jia Jia Chen K.W.Thilini Chethana Putarak Chomnunti Giovanni Consiglio Bao Kai Cui Dong Qin Dai Yu Cheng Dai Dinushani A.Daranagama Kanad Das Monika C.Dayarathne Eske De Crop Rafael J.V.De Oliveira Carlos Alberto Fragoso de Souza JoséIde Souza Bryn T.M.Dentinger Asha J.Dissanayake Mingkwan Doilom E.Ricardo Drechsler-Santos Masoomeh Ghobad-Nejhad Sean P.Gilmore Aristóteles Góes-Neto MichałGorczak Charles H.Haitjema Kalani Kanchana Hapuarachchi Akira Hashimoto Mao Qiang He John K.Henske Kazuyuki Hirayama Maria J.Iribarren Subashini C.Jayasiri Ruvishika S.Jayawardena Sun Jeong Jeon Gustavo H.Jerônimo Ana L.Jesus E.B.Gareth Jones Ji Chuan Kang Samantha C.Karunarathna Paul M.Kirk Sirinapa Konta Eric Kuhnert Ewald Langer Haeng Sub Lee Hyang Burm Lee Wen Jing Li Xing Hong Li Kare Liimatainen Diogo Xavier Lima Chuan Gen Lin Jian Kui Liu Xings Zhong Liu Zuo Yi Liu J.Jennifer Luangsa-ard Robert Lücking H.Thorsten Lumbsch Saisamorn Lumyong Eduardo M.Leaño Agostina V.Marano Misato Matsumura Eric H.C.McKenzie Suchada Mongkolsamrit Peter E.Mortimer Thi Thuong Thuong Nguyen Tuula Niskanen Chada Norphanphoun Michelle A.O’Malley Sittiporn Parnmen Julia Pawłowska Rekhani H.Perera Rungtiwa Phookamsak Chayanard Phukhamsakda Carmen L.A.Pires-Zottarelli Olivier Raspé Mateus A.Reck Sarah C.O.Rocha AndréL.C.M.Ade Santiago Indunil C.Senanayake Ledo Setti Qiu Ju Shang Sanjay K.Singh Esteban B.Sir Kevin V.Solomon Jie Song Prasert Srikitikulchai Marc Stadler Satinee Suetrong Hayato Takahashi Takumasa Takahashi Kazuaki Tanaka Li Ping Tang Kasun M.Thambugala Donnaya Thanakitpipattana Michael K.Theodorou Benjarong Thongbai Tuksaporn Thummarukcharoen Qing Tian Saowaluck Tibpromma Annemieke State Key Laboratory of Mycology Institute of MicrobiologyChinese Academy of SciencesNo 31st West Beichen RoadChaoyang DistrictBeijing 100101People’s Republic of China Centre of Excellence in Fungal Research and School of Science Mae Fah Luang UniversityChiang Rai 57100Thailand Key Laboratory for Plant Diversity and Biogeography of East Asia Kunming Institute of BotanyChinese Academy of ScienceKunming 650201YunnanPeople’s Republic of China Department of Botany and Microbiology College of ScienceKing Saud UniversityP.O.Box:2455Riyadh 1145Saudi Arabia Department of Botany and Microbiology Faculty of ScienceSohag UniversitySohag 82524Egypt ALVALAB C/La Rochela nº47E-39012 SantanderSpain Micolab Programa de Pós-Graduação em Biologia de FungosAlgas e PlantasDepartamento de BotânicaUniversidade Federal de Santa CatarinaCampus Universitário TrindadeCEP:88040-900 FlorianópolisSanta CatarinaBrazil Department of Biology University of WashingtonBox 351800SeattleWA 98195-1800USA Guizhou Key Laboratory of Agricultural Biotechnology Guizhou Academy of Agricultural SciencesGuiyang 550006GuizhouPeople’s Republic of China National Fungal Culture Collection of India(NFCCI) Biodiversity and Palaeobiology GroupMACS’Agharkar Research InstituteG.G.Agarkar RoadPune 411004India PO Box 116 HusumWA 98623-0116USA Formerly Department of BotanyGoa UniversityGoaIndia No.128/1-J Azad Housing SocietyCurcaP.O.Goa Velha 403108India *** 345 Shipwatch LaneHerculesCA 94547USA Microbe Interaction Laboratory(BMIT) BIOTECNational Science and Technology Development Agency(NSTDA)113 Thailand Science ParkThanon PhahonyothinTombon Khlong NuengAmphoeKhlong LuangPathum Thani 12120Thailand Academy of Biology and Biotechnology Southern Federal UniversityRostov-on-Don 344090Rostov regionRussia A.M.B.Gruppo Micologico Forlivese BAntonio“Cicognani” Via Roma Forlì Italy 18 A.M.B.Circolo Micologico“Giovanni Carini”C.P.314BresciaItaly Societàper gli Studi Naturalistici della Romagna C.P.144Bagnacavallo

Notes on 113 fungal taxa are compiled in this paper,including 11 new genera,89 new species,one new subspecies,three new combinations and seven reference *** geographic and taxonomic range of fungal taxa are *** the Ascomycota the new genera Angustospora(Testudinaceae),Camporesia(Xylariaceae),Clematidis,Crassiparies(Pleosporales genera incertae sedis),Farasanispora,Longiostiolum(Pleosporales genera incertae sedis),Multilocularia(Parabambusicolaceae),Neophaeocryptopus(Dothideaceae),Parameliola(Pleosporales genera incertae sedis),and Towyspora(Lentitheciaceae)are *** introduced species are Angustospora nilensis,Aniptodera aquibella,Annulohypoxylon albidiscum,Astrocystis thailandica,Camporesia sambuci,Clematidis italica,Colletotrichum menispermi,***,Comoclathris pimpinellae,Crassiparies quadrisporus,Cytospora salicicola,Diatrype thailandica,Dothiorella rhamni,Durotheca macrostroma,Farasanispora avicenniae,Halorosellinia rhizophorae,Humicola koreana,Hypoxylon lilloi,Kirschsteiniothelia tectonae,Lindgomyces okinawaensis,Longiostiolum tectonae,Lophiostoma pseudoarmatisporum,Moelleriella phukhiaoensis,***,Mucoharknessia anthoxanthi,Multilocularia bambusae,Multiseptospora thysanolaenae,Neophaeocryptopus cytisi,Ocellularia arachchigei,***,Ochronectria thailandica,Ophiocordyceps karstii,Parameliola acaciae,***,Parastagonospora cumpignensis,Pseudodidymosphaeria phlei,Polyplosphaeria thailandica,Pseudolachnella brevifusiformis,Psiloglonium macrosporum,Rhabdodiscus albodenticulatus,Rosellinia chiangmaiensis,Saccothecium rubi,Seimatosporium pseudocornii,***,Sigarispora ononidis and Towyspora *** combinations are provided for Eutiarosporella dactylidis(sexual morph described and illus trated)and Pseudocamarosporium ***,illustrations and/or reference specimens are designated for Aposphaeria corallinolutea,Cryptovalsa ampelina,Dothiorella vidmadera,Ophiocordyceps formosana,P

关键词： Ascomycota Basidiomycota Neocallimastigomycota Oomycota.Zygomycota Phylogeny Taxonomy New genus New species

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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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The evolutionary history of 2,658 cancers (vol 578, pg 122, 2020)

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NATURE 2023年第7948期614卷 E42-E42页

作者： Gerstung, Moritz Jolly, Clemency Leshchiner, Ignaty Dentro, Stefan C. Gonzalez, Santiago Rosebrock, Daniel Mitchell, Thomas J. Rubanova, Yulia Anur, Pavana Yu, Kaixian Tarabichi, Maxime Deshwar, Amit Wintersinger, Jeff Kleinheinz, Kortine Vazquez-Garcia, Ignacio Haase, Kerstin Jerman, Lara Sengupta, Subhajit Macintyre, Geoff Malikic, Salem Donmez, Nilgun Livitz, Dimitri G. Cmero, Marek Demeulemeester, Jonas Schumacher, Steven Fan, Yu Yao, Xiaotong Lee, Juhee Schlesner, Matthias Boutros, Paul C. Bowtell, David D. Zhu, Hongtu Getz, Gad Imielinski, Marcin Beroukhim, Rameen Sahinalp, S. Cenk Ji, Yuan Peifer, Martin Markowetz, Florian Mustonen, Ville Yuan, Ke Wang, Wenyi Morris, Quaid D. Spellman, Paul T. Wedge, David C. Van Loo, Peter European Molecular Biology Laboratory European Bioinformatics Institute (EMBL-EBI) Cambridge UK European Molecular Biology Laboratory Genome Biology Unit Heidelberg Germany Wellcome Sanger Institute Cambridge UK Genome Biology Unit European Molecular Biology Laboratory (EMBL) Heidelberg Germany University of Ljubljana Ljubljana Slovenia The Francis Crick Institute London UK Big Data Institute University of Oxford Oxford UK Wellcome Sanger Institute Wellcome Genome Campus Hinxton UK Big Data Institute Li Ka Shing Centre University of Oxford Oxford UK University of Cambridge Cambridge UK Cambridge University Hospitals NHS Foundation Trust Cambridge UK Department of Applied Mathematics and Theoretical Physics Centre for Mathematical Sciences University of Cambridge Cambridge UK Department of Epidemiology and Biostatistics Memorial Sloan Kettering Cancer Center New York NY USA Department of Statistics Columbia University New York NY USA Department of Haematology University of Cambridge Cambridge UK University of Leuven Leuven Belgium Broad Institute of MIT and Harvard Cambridge MA USA Center for Cancer Research Massachusetts General Hospital Charlestown MA USA Department of Pathology Massachusetts General Hospital Boston MA USA Harvard Medical School Boston MA USA Center for Cancer Research Massachusetts General Hospital Boston MA USA Dana-Farber Cancer Institute Boston MA USA Department of Medical Oncology Dana-Farber Cancer Institute Boston MA USA Department of Cancer Biology Dana-Farber Cancer Institute Boston MA USA Oxford NIHR Biomedical Research Centre Oxford UK Oxford NIHR Biomedical Research Centre University of Oxford Oxford UK University of Toronto Toronto Ontario Canada Vector Institute Toronto Ontario Canada Vector Institute Toronto ON Canada Department of Computer Science University of Toronto Toronto ON Canada Ontario Institute for Cancer Research Toronto Ontario Canada University of California Los Angeles

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Guidelines and definitions for research on epithelial-mesenchymal transition (vol 21, pg 341, 2020)

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NATURE REVIEWS MOLECULAR CELL BIOLOGY 2021年第12期22卷 834-834页

作者： Yang, Jing Antin, Parker Berx, Geert Blanpain, Cedric Brabletz, Thomas Bronner, Marianne Campbell, Kyra Cano, Amparo Casanova, Jordi Christofori, Gerhard Dedhar, Shoukat Derynck, Rik Ford, Heide L. Fuxe, Jonas Garcia de Herreros, Antonio Goodall, Gregory J. Hadjantonakis, Anna-Katerina Huang, Ruby Y. J. Kalcheim, Chaya Kalluri, Raghu Kang, Yibin Khew-Goodall, Yeesim Levine, Herbert Liu, Jinsong Longmore, Gregory D. Mani, Sendurai A. Massague, Joan Mayor, Roberto McClay, David Mostov, Keith E. Newgreen, Donald F. Nieto, M. Angela Puisieux, Alain Runyan, Raymond Savagner, Pierre Stanger, Ben Stemmler, Marc P. Takahashi, Yoshiko Takeichi, Masatoshi Theveneau, Eric Thiery, Jean Paul Thompson, Erik W. Weinberg, Robert A. Williams, Elizabeth D. Xing, Jianhua Zhou, Binhua P. Sheng, Guojun Departments of Pharmacology and Pediatrics Moores Cancer Center University of California San Diego La Jolla CA USA Department of Cellular and Molecular Medicine University of Arizona Tucson AZ USA Molecular and Cellular Oncology Lab Department of Biomedical Molecular Biology Ghent University Cancer Research Institute Ghent (CRIG) VIB Center for Inflammation Research Ghent Belgium Laboratory of Stem Cells and Cancer Université Libre de Bruxelles Bruxelles Belgium Department of Experimental Medicine 1 Nikolaus-Fiebiger-Center for Molecular Medicine Friedrich-Alexander-University Erlangen-Nürnberg Erlangen Germany Division of Biology and Biological Engineering California Institute of Technology Pasadena CA USA Department of Biomedical Science and Bateson Centre University of Sheffield Sheffield UK Departamento de Bioquímica Universidad Autónoma de Madrid (UAM) Instituto de Investigaciones Biomédicas ‘Alberto Sols’ (CSIC-UAM) IdiPAZ & Centro de Investigación Biomédica en Red de Cáncer (CIBERONC) Madrid Spain Institute for Research in Biomedicine (IRB Barcelona) Barcelona Institute of Science and Technology/Institut de Biologia Molecular de Barcelona (IBMB-CSIC) Barcelona Spain Department of Biomedicine University of Basel Basel Switzerland Department of Biochemistry and Molecular Biology University of British Columbia and British Columbia Cancer Research Centre Vancouver BC Canada Departments of Cell and Tissue Biology and Anatomy University of California at San Francisco San Francisco CA USA Department of Pharmacology University of Colorado Anschutz Medical Campus Aurora CO USA Department of Laboratory Medicine (LABMED) Division of Pathology Karolinska University Hospital and Department of Microbiology Tumor and Cell Biology (MTC) Karolinska Institutet Stockholm Sweden Programa de Recerca en Càncer Institut Hospital del Mar d’Investigacions Mèdiques (IMIM) and Departament de Ciències Experimentals i de la Salut Universitat Pompeu Fabra Barcelona Spain C

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Genetic drivers of heterogeneity in type 2 diabetes pathophysiology

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Nature 2024年第8003期627卷 347-357页

作者： Ken Suzuki Konstantinos Hatzikotoulas Lorraine Southam Henry J Taylor Xianyong Yin Kim M Lorenz Ravi Mandla Alicia Huerta-Chagoya Giorgio E M Melloni Stavroula Kanoni Nigel W Rayner Ozvan Bocher Ana Luiza Arruda Kyuto Sonehara Shinichi Namba Simon S K Lee Michael H Preuss Lauren E Petty Philip Schroeder Brett Vanderwerff Mart Kals Fiona Bragg Kuang Lin Xiuqing Guo Weihua Zhang Jie Yao Young Jin Kim Mariaelisa Graff Fumihiko Takeuchi Jana Nano Amel Lamri Masahiro Nakatochi Sanghoon Moon Robert A Scott James P Cook Jung-Jin Lee Ian Pan Daniel Taliun Esteban J Parra Jin-Fang Chai Lawrence F Bielak Yasuharu Tabara Yang Hai Gudmar Thorleifsson Niels Grarup Tamar Sofer Matthias Wuttke Chloé Sarnowski Christian Gieger Darryl Nousome Stella Trompet Soo-Heon Kwak Jirong Long Meng Sun Lin Tong Wei-Min Chen Suraj S Nongmaithem Raymond Noordam Victor J Y Lim Claudia H T Tam Yoonjung Yoonie Joo Chien-Hsiun Chen Laura M Raffield Bram Peter Prins Aude Nicolas Lisa R Yanek Guanjie Chen Jennifer A Brody Edmond Kabagambe Ping An Anny H Xiang Hyeok Sun Choi Brian E Cade Jingyi Tan K Alaine Broadaway Alice Williamson Zoha Kamali Jinrui Cui Manonanthini Thangam Linda S Adair Adebowale Adeyemo Carlos A Aguilar-Salinas Tarunveer S Ahluwalia Sonia S Anand Alain Bertoni Jette Bork-Jensen Ivan Brandslund Thomas A Buchanan Charles F Burant Adam S Butterworth Mickaël Canouil Juliana C N Chan Li-Ching Chang Miao-Li Chee Ji Chen Shyh-Huei Chen Yuan-Tsong Chen Zhengming Chen Lee-Ming Chuang Mary Cushman John Danesh Swapan K Das H Janaka de Silva George Dedoussis Latchezar Dimitrov Ayo P Doumatey Shufa Du Qing Duan Kai-Uwe Eckardt Leslie S Emery Daniel S Evans Michele K Evans Krista Fischer James S Floyd Ian Ford Oscar H Franco Timothy M Frayling Barry I Freedman Pauline Genter Hertzel C Gerstein Vilmantas Giedraitis Clicerio González-Villalpando Maria Elena González-Villalpando Penny Gordon-Larsen Myron Gross Lindsay A Guare Sophie Hackinger Liisa Hakaste Sohee Han Andrew T Hattersley Christian Herder Momoko Horikoshi Annie-Green Howard Willa Centre for Genetics and Genomics Versus Arthritis Centre for Musculoskeletal Research Division of Musculoskeletal and Dermatological Sciences University of Manchester Manchester UK. Department of Diabetes and Metabolic Diseases Graduate School of Medicine University of Tokyo Tokyo Japan. Department of Statistical Genetics Osaka University Graduate School of Medicine Suita Japan. Institute of Translational Genomics Helmholtz Zentrum München German Research Center for Environmental Health Neuherberg Germany. konstantinos.hatzikotoulas@helmholtz-munich.de. Institute of Translational Genomics Helmholtz Zentrum München German Research Center for Environmental Health Neuherberg Germany. Center for Precision Health Research National Human Genome Research Institute National Institutes of Health Bethesda MD USA. British Heart Foundation Cardiovascular Epidemiology Unit Department of Public Health and Primary Care University of Cambridge Cambridge UK. Heart and Lung Research Institute University of Cambridge Cambridge UK. Department of Epidemiology School of Public Health Nanjing Medical University Nanjing China. Department of Biostatistics and Center for Statistical Genetics University of Michigan Ann Arbor MI USA. Corporal Michael J. Crescenz VA Medical Center Philadelphia PA USA. Department of Systems Pharmacology and Translational Therapeutics University of Pennsylvania Perelman School of Medicine Philadelphia PA USA. Department of Genetics University of Pennsylvania Perelman School of Medicine Philadelphia PA USA. Programs in Metabolism and Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA USA. Diabetes Unit and Center for Genomic Medicine Massachusetts General Hospital Boston MA USA. TIMI Study Group Division of Cardiovascular Medicine Brigham and Women's Hospital Harvard Medical School Boston MA USA. William Harvey Research Institute Barts and the London School of Medicine and Dentistry Queen Mary University of London L

Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse pathophysiological processes and molecular mechanisms that are often specific to cell type. Here, to characterize the genetic contribution to these processes across ancestry groups, we aggregate genome-wide association study data from 2,535,601 individuals (39.7% not of European ancestry), including 428,452 cases of T2D. We identify 1,289 independent association signals at genome-wide significance (P < 5 × 10) that map to 611 loci, of which 145 loci are, to our knowledge, previously unreported. We define eight non-overlapping clusters of T2D signals that are characterized by distinct profiles of cardiometabolic trait associations. These clusters are differentially enriched for cell-type-specific regions of open chromatin, including pancreatic islets, adipocytes, endothelial cells and enteroendocrine cells. We build cluster-specific partitioned polygenic scores in a further 279,552 individuals of diverse ancestry, including 30,288 cases of T2D, and test their association with T2D-related vascular outcomes. Cluster-specific partitioned polygenic scores are associated with coronary artery disease, peripheral artery disease and end-stage diabetic nephropathy across ancestry groups, highlighting the importance of obesity-related processes in the development of vascular outcomes. Our findings show the value of integrating multi-ancestry genome-wide association study data with single-cell epigenomics to disentangle the aetiological heterogeneity that drives the development and progression of T2D. This might offer a route to optimize global access to genetically informed diabetes care.

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Global, regional, and national burden of diabetes from 1990 to 2021, with projections of prevalence to 2050: a systematic analysis for the Global Burden of Disease Study 2021

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The Lancet 2023年第10397期402卷 203-234页

作者： Ong, Kanyin Liane Stafford, Lauryn K. McLaughlin, Susan A. Boyko, Edward J. Vollset, Stein Emil Smith, Amanda E. Dalton, Bronte E. Duprey, Joe Cruz, Jessica A. Hagins, Hailey Lindstedt, Paulina A. Aali, Amirali Abate, Yohannes Habtegiorgis Abate, Melsew Dagne Abbasian, Mohammadreza Abbasi-Kangevari, Zeinab Abbasi-Kangevari, Mohsen ElHafeez, Samar Abd Abd-Rabu, Rami Abdulah, Deldar Morad Abdullah, Abu Yousuf Md Abedi, Vida Abidi, Hassan Aboagye, Richard Gyan Abolhassani, Hassan Abu-Gharbieh, Eman Abu-Zaid, Ahmed Adane, Tigist Demssew Adane, Denberu Eshetie Addo, Isaac Yeboah Adegboye, Oyelola A. Adekanmbi, Victor Adepoju, Abiola Victor Adnani, Qorinah Estiningtyas Sakilah Afolabi, Rotimi Felix Agarwal, Gina Aghdam, Zahra Babaei Agudelo-Botero, Marcela Arriagada, Constanza Elizabeth Aguilera Agyemang-Duah, Williams Ahinkorah, Bright Opoku Ahmad, Danish Ahmad, Rizwan Ahmad, Sajjad Ahmad, Aqeel Ahmadi, Ali Ahmadi, Keivan Ahmed, Ali Ahmed, Luai A. Ahmed, Syed Anees Ajami, Marjan Akinyemi, Rufus Olusola Al Hamad, Hanadi Al Hasan, Syed Mahfuz AL-Ahdal, Tareq Mohammed Ali Alalwan, Tariq A. Al-Aly, Ziyad AlBataineh, Mohammad T. Alcalde-Rabanal, Jacqueline Elizabeth Alemi, Sharifullah Ali, Hassam Alinia, Tahereh Aljunid, Syed Mohamed Almustanyir, Sami Al-Raddadi, Rajaa M. Alvis-Guzman, Nelson Amare, Firehiwot Ameyaw, Edward Kwabena Amiri, Sohrab Amusa, Ganiyu Adeniyi Andrei, Catalina Liliana Anjana, Ranjit Mohan Ansar, Adnan Ansari, Golnoosh Ansari-Moghaddam, Alireza Anyasodor, Anayochukwu Edward Arabloo, Jalal Aravkin, Aleksandr Y. Areda, Demelash Arifin, Hidayat Arkew, Mesay Armocida, Benedetta Arnlov, Johan Artamonov, Anton A. Arulappan, Judie Aruleba, Raphael Taiwo Arumugam, Ashokan Aryan, Zahra Asemu, Mulu Tiruneh Asghari-Jafarabadi, Mohammad Askari, Elaheh Asmelash, Daniel Astell-Burt, Thomas Athar, Mohammad Athari, Seyyed Shamsadin Atout, Maha Moh'd Wahbi Avila-Burgos, Leticia Awaisu, Ahmed Azadnajafabad, Sina Darshan, B.B. Babamohamadi, Hassan Badar, Muhammad Badawi, Alaa Badiye, Ashish D. Baghcheghi, Nayereh Baghe Institute for Health Metrics and Evaluation School of Medicine General Medicine Service Department of Veterans Affairs Seattle WA United States Department of Health Metrics Sciences School of Medicine Faculty of Medicine France Department of Clinical Governance and Quality Improvement Aleta Wondo Hospital Aleta Wondo Ethiopia Department of Nursing Woldia University Woldia Ethiopia Department of Nursing Department of Orthopedic Surgery Orthopaedic Surgery Social Determinants of Health Research Center Non-communicable Diseases Research Center Epidemiology Department Evidence-Based Practice Center Community and Maternity Nursing Unit University of Duhok Duhok Iraq School of Planning Faculty of Environment Department of Public Health Sciences Penn State College of Medicine Pennsylvania State University Hershey PA United States Biocomplexity Institute Virginia Tech Blacksburg VA United States College of Medicine Department of Public Health Laboratory Technology Sciences Department Department of Family and Community Health University of Health and Allied Sciences Ho Ghana Research Center for Immunodeficiencies Department of Biosciences and Nutrition Karolinska University Hospital Huddinge Sweden Clinical Sciences Department Department of Surgery Department of Surgery Department of Obstetrics & Gynecology College of Graduate Health Sciences University of Tennessee Memphis TN United States Department of Obstetrics & Gynecology Department of Clinical and Psychosocial Epidemiology Department of Anesthesia and Critical Care Centre for Social Research in Health Quality and Systems Performance Unit Cancer Institute NSW Sydney NSW Australia Department of Public Health and Tropical Medicine HIV and Infectious Diseases Department Jhpiego Abuja Nigeria Adolescent Research and Care Department Adolescent Friendly Research Initiative and Care Ado Ekiti Nigeria Department of Epidemiology Department of Epidemiology and Medical Statistics Department of Family Medicine McMaster University

Background: Diabetes is one of the leading causes of death and disability worldwide, and affects people regardless of country, age group, or sex. Using the most recent evidentiary and analytical framework from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD), we produced location-specific, age-specific, and sex-specific estimates of diabetes prevalence and burden from 1990 to 2021, the proportion of type 1 and type 2 diabetes in 2021, the proportion of the type 2 diabetes burden attributable to selected risk factors, and projections of diabetes prevalence through 2050. Methods: Estimates of diabetes prevalence and burden were computed in 204 countries and territories, across 25 age groups, for males and females separately and combined;these estimates comprised lost years of healthy life, measured in disability-adjusted life-years (DALYs;defined as the sum of years of life lost [YLLs] and years lived with disability [YLDs]). We used the Cause of Death Ensemble model (CODEm) approach to estimate deaths due to diabetes, incorporating 25 666 location-years of data from vital registration and verbal autopsy reports in separate total (including both type 1 and type 2 diabetes) and type-specific models. Other forms of diabetes, including gestational and monogenic diabetes, were not explicitly modelled. Total and type 1 diabetes prevalence was estimated by use of a Bayesian meta-regression modelling tool, DisMod-MR 2.1, to analyse 1527 location-years of data from the scientific literature, survey microdata, and insurance claims;type 2 diabetes estimates were computed by subtracting type 1 diabetes from total estimates. Mortality and prevalence estimates, along with standard life expectancy and disability weights, were used to calculate YLLs, YLDs, and DALYs. When appropriate, we extrapolated estimates to a hypothetical population with a standardised age structure to allow comparison in populations with different age structures. We used the comparative r

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Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

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Nature genetics 2019年第7期51卷 1192-1193页

作者： Rainer Malik Ganesh Chauhan Matthew Traylor Muralidharan Sargurupremraj Yukinori Okada Aniket Mishra Loes Rutten-Jacobs Anne-Katrin Giese Sander W van der Laan Solveig Gretarsdottir Christopher D Anderson Michael Chong Hieab H H Adams Tetsuro Ago Peter Almgren Philippe Amouyel Hakan Ay Traci M Bartz Oscar R Benavente Steve Bevan Giorgio B Boncoraglio Robert D Brown Adam S Butterworth Caty Carrera Cara L Carty Daniel I Chasman Wei-Min Chen John W Cole Adolfo Correa Ioana Cotlarciuc Carlos Cruchaga John Danesh Paul I W de Bakker Anita L DeStefano Marcel den Hoed Qing Duan Stefan T Engelter Guido J Falcone Rebecca F Gottesman Raji P Grewal Vilmundur Gudnason Stefan Gustafsson Jeffrey Haessler Tamara B Harris Ahamad Hassan Aki S Havulinna Susan R Heckbert Elizabeth G Holliday George Howard Fang-Chi Hsu Hyacinth I Hyacinth M Arfan Ikram Erik Ingelsson Marguerite R Irvin Xueqiu Jian Jordi Jiménez-Conde Julie A Johnson J Wouter Jukema Masahiro Kanai Keith L Keene Brett M Kissela Dawn O Kleindorfer Charles Kooperberg Michiaki Kubo Leslie A Lange Carl D Langefeld Claudia Langenberg Lenore J Launer Jin-Moo Lee Robin Lemmens Didier Leys Cathryn M Lewis Wei-Yu Lin Arne G Lindgren Erik Lorentzen Patrik K Magnusson Jane Maguire Ani Manichaikul Patrick F McArdle James F Meschia Braxton D Mitchell Thomas H Mosley Michael A Nalls Toshiharu Ninomiya Martin J O'Donnell Bruce M Psaty Sara L Pulit Kristiina Rannikmäe Alexander P Reiner Kathryn M Rexrode Kenneth Rice Stephen S Rich Paul M Ridker Natalia S Rost Peter M Rothwell Jerome I Rotter Tatjana Rundek Ralph L Sacco Saori Sakaue Michele M Sale Veikko Salomaa Bishwa R Sapkota Reinhold Schmidt Carsten O Schmidt Ulf Schminke Pankaj Sharma Agnieszka Slowik Cathie L M Sudlow Christian Tanislav Turgut Tatlisumak Kent D Taylor Vincent N S Thijs Gudmar Thorleifsson Unnur Thorsteinsdottir Steffen Tiedt Stella Trompet Christophe Tzourio Cornelia M van Duijn Matthew Walters Nicholas J Wareham Sylvia Wassertheil-Smoller James G Wilson Kerri L Wiggins Qiong Yang Salim Yusuf Joshua C Bis Tomi Institute for Stroke and Dementia Research (ISD) University Hospital LMU Munich Munich Germany. Centre for Brain Research Indian Institute of Science Bangalore India. INSERM U1219 Bordeaux Population Health Research Center University of Bordeaux Bordeaux France. Stroke Research Group Division of Clinical Neurosciences University of Cambridge Cambridge UK. Department of Neurology Institute for Neurodegenerative Disease Bordeaux University Hospital Bordeaux France. Laboratory for Statistical Analysis RIKEN Center for Integrative Medical Sciences Yokohama Japan. Department of Statistical Genetics Osaka University Graduate School of Medicine Osaka Japan. Laboratory of Statistical Immunology Immunology Frontier Research Center (WPI-IFReC) Osaka University Suita Japan. Department of Neurology Massachusetts General Hospital (MGH) Harvard Medical School Boston MA USA. Laboratory of Experimental Cardiology Department of Cardiology Division of Heart and Lungs University Medical Center Utrecht University of Utrecht Utrecht the Netherlands. deCODE genetics/AMGEN Inc. Reykjavik Iceland. Center for Genomic Medicine MGH Boston MA USA. J. Philip Kistler Stroke Research Center Department of Neurology MGH Boston MA USA. Program in Medical and Population Genetics Broad Institute Cambridge MA USA. Population Health Research Institute McMaster University Hamilton Ontario Canada. Department of Epidemiology Erasmus University Medical Center Rotterdam the Netherlands. Department of Radiology and Nuclear Medicine Erasmus University Medical Center Rotterdam the Netherlands. Department of Medicine and Clinical Science Graduate School of Medical Sciences Kyushu University Fukuoka Japan. Department of Clinical Sciences Lund University Malmö Sweden. INSERM Institut Pasteur de Lille LabEx DISTALZ-UMR1167 Risk Factors and Molecular Determinants of Aging-Related Diseases Université Lille Lille France. Centre Hospitalier Université Lille Epidemiology and Public Health D

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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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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