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Publisher Correction: Notch1 regulates the initiation of metastasis and self-renewal of Group 3 medulloblastoma

Nature communications 2018年第1期9卷 4651页

作者： Suzana A Kahn Xin Wang Ryan T Nitta Sharareh Gholamin Johanna Theruvath Gregor Hutter Tej D Azad Lina Wadi Sara Bolin Vijay Ramaswamy Rogelio Esparza Kun-Wei Liu Michael Edwards Fredrik J Swartling Debashis Sahoo Gordon Li Robert J Wechsler-Reya Jüri Reimand Yoon-Jae Cho Michael D Taylor Irving L Weissman Siddhartha S Mitra Samuel H Cheshier Division of Pediatric Neurosurgery Lucile Packard Children's Hospital Stanford University School of Medicine Stanford 94305 California USA. suzanakahn@***. Institute for Stem Cell Biology and Regenerative Medicine and the Ludwig Cancer Center Stanford University School of Medicine Stanford 94305 California USA. suzanakahn@***. Department of Neurosurgery Stanford University School of Medicine Stanford 94305 California USA. suzanakahn@***. Ludwig Institute for Cancer Research Stanford University School of Medicine Stanford 94305 California USA. suzanakahn@***. Division of Neurosurgery Arthur and Sonia Labatt Brain Tumor Research Centre Hospital for Sick Children University of Toronto Toronto M5G 0A4 Ontario Canada. Department of Neurosurgery Stanford University School of Medicine Stanford 94305 California USA. Division of Pediatric Neurosurgery Lucile Packard Children's Hospital Stanford University School of Medicine Stanford 94305 California USA. Institute for Stem Cell Biology and Regenerative Medicine and the Ludwig Cancer Center Stanford University School of Medicine Stanford 94305 California USA. Computational Biology Program Ontario Institute for Cancer Research Toronto M5G 0A3 Ontario Canada. Department of Immunology Genetics and Pathology Science for Life Laboratory Rudbeck Laboratory Uppsala University Uppsala 75185 Sweden. Tumor Initiation and Maintenance Program Sanford Burnham Prebys Medical Discovery Institute 2880 Torrey Pines Scenic Drive La Jolla 92037 California USA. Ludwig Institute for Cancer Research Stanford University School of Medicine Stanford 94305 California USA. Department of Pediatrics and Department of Computer Science and Engineering University of California San Diego San Diego 92093 California USA. Department of Medical Biophysics University of Toronto Toronto M5G 1L7 Ontario Canada. Department of Pediatrics Children's Hospital Colorado University of Colorado School of Medicine Room No. P18-4114 Research

The original version of this Article omitted Suzana A. Kahn, Siddhartha S. Mitra & Samuel H. Cheshier as jointly supervising authors. This has now been corrected in both the PDF and HTML versions of the Article.

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Publisher Correction: Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability

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Nature communications 2021年第1期12卷 995页

作者： Vasiliki Lagou Reedik Mägi Jouke- Jan Hottenga Harald Grallert John R B Perry Nabila Bouatia-Naji Letizia Marullo Denis Rybin Rick Jansen Josine L Min Antigone S Dimas Anna Ulrich Liudmila Zudina Jesper R Gådin Longda Jiang Alessia Faggian Amélie Bonnefond Joao Fadista Maria G Stathopoulou Aaron Isaacs Sara M Willems Pau Navarro Toshiko Tanaka Anne U Jackson May E Montasser Jeff R O'Connell Lawrence F Bielak Rebecca J Webster Richa Saxena Jeanette M Stafford Beate St Pourcain Nicholas J Timpson Perttu Salo So-Youn Shin Najaf Amin Albert V Smith Guo Li Niek Verweij Anuj Goel Ian Ford Paul C D Johnson Toby Johnson Karen Kapur Gudmar Thorleifsson Rona J Strawbridge Laura J Rasmussen-Torvik Tõnu Esko Evelin Mihailov Tove Fall Ross M Fraser Anubha Mahajan Stavroula Kanoni Vilmantas Giedraitis Marcus E Kleber Günther Silbernagel Julia Meyer Martina Müller-Nurasyid Andrea Ganna Antti-Pekka Sarin Loic Yengo Dmitry Shungin Jian'an Luan Momoko Horikoshi Ping An Serena Sanna Yvonne Boettcher N William Rayner Ilja M Nolte Tatijana Zemunik Erik van Iperen Peter Kovacs Nicholas D Hastie Sarah H Wild Stela McLachlan Susan Campbell Ozren Polasek Olga Carlson Josephine Egan Wieland Kiess Gonneke Willemsen Johanna Kuusisto Markku Laakso Maria Dimitriou Andrew A Hicks Rainer Rauramaa Stefania Bandinelli Barbara Thorand Yongmei Liu Iva Miljkovic Lars Lind Alex Doney Markus Perola Aroon Hingorani Mika Kivimaki Meena Kumari Amanda J Bennett Christopher J Groves Christian Herder Heikki A Koistinen Leena Kinnunen Ulf de Faire Stephan J L Bakker Matti Uusitupa Colin N A Palmer J Wouter Jukema Naveed Sattar Anneli Pouta Harold Snieder Eric Boerwinkle James S Pankow Patrik K Magnusson Ulrika Krus Chiara Scapoli Eco J C N de Geus Matthias Blüher Bruce H R Wolffenbuttel Michael A Province Goncalo R Abecasis James B Meigs G Kees Hovingh Jaana Lindström James F Wilson Alan F Wright George V Dedoussis Stefan R Bornstein Peter E H Schwarz Anke Tönjes Bernhard R Winkelmann Bernhard O Boehm Winfried März Andres Metspalu Jackie F Price Panos Delouk Wellcome Centre for Human Genetics University of Oxford Oxford UK. Department of Microbiology and Immunology Laboratory of Adaptive Immunity KU Leuven Leuven Belgium. VIB-KU Leuven Center for Brain and Disease Research Leuven Belgium. Estonian Genome Centre Institute of Genomics University of Tartu Tartu Estonia. Department of Biological Psychology Vrije Universiteit Amsterdam The Netherlands. Amsterdam Public Health Research Institute VU University medical center Amsterdam The Netherlands. Research Unit of Molecular Epidemiology Institute of Epidemiology Helmholtz Zentrum München Research Center for Environmental Health Neuherberg Germany. German Center for Diabetes Research (DZD München-Neuherberg Germany. MRC Epidemiology Unit University of Cambridge School of Clinical Medicine Cambridge UK. University of Lille Nord de France Lille France. CNRS UMR8199 Institut Pasteur de Lille Lille France. INSERM U970 Paris Cardiovascular Research Center PARCC 75006 Paris France. Department of Life Sciences and Biotechnology University of Ferrara Ferrara Italy. Boston University Data Coordinating Center Boston MA USA. Department of Psychiatry VU University Medical Center Amsterdam The Netherlands. MRC Integrative Epidemiology Unit University of Bristol Bristol UK. Bristol Medical School University of Bristol Bristol UK. Institute for Bioinnovation Biomedical Sciences Research Center Al. Fleming Vari Greece. Department of Medicine Imperial College London London UK. Cardiovascular Medicine Unit Center for Molecular Medicine Department of Medicine Karolinska Institutet Stockholm Karolinska University Hospital Solna Sweden. Institute for Molecular Bioscience The University of Queensland Brisbane QLD 4072 Australia. Department of Epidemiology Research Statens Serum Institut Copenhagen Denmark. Université de Lorraine IGE-PCV F-54000 Nancy France. Genetic Epidemiology Unit Department of Epidemiology Erasmus Medical Center Rotterdam the Netherlands. CAR

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Association between GWAS-identified lung adenocarcinoma susceptibility loci and EGFR mutations in never-smoking Asian women, and comparison with findings from Western populations

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Human molecular genetics 2017年第2期26卷 454-465页

作者： Wei Jie Seow Keitaro Matsuo Chao Agnes Hsiung Kouya Shiraishi Minsun Song Hee Nam Kim Maria Pik Wong Yun-Chul Hong H Dean Hosgood Zhaoming Wang I-Shou Chang Jiu-Cun Wang Nilanjan Chatterjee Margaret Tucker Hu Wei Tetsuya Mitsudomi Wei Zheng Jin Hee Kim Baosen Zhou Neil E Caporaso Demetrius Albanes Min-Ho Shin Lap Ping Chung She-Juan An Ping Wang Hong Zheng Yasushi Yatabe Xu-Chao Zhang Young Tae Kim Xiao-Ou Shu Young-Chul Kim Bryan A Bassig Jiang Chang James Chung Man Ho Bu-Tian Ji Michiaki Kubo Yataro Daigo Hidemi Ito Yukihide Momozawa Kyota Ashikawa Yoichiro Kamatani Takayuki Honda Hiromi Sakamoto Hideo Kunitoh Koji Tsuta Shun-Ichi Watanabe Hiroshi Nokihara Yohei Miyagi Haruhiko Nakayama Shingo Matsumoto Masahiro Tsuboi Koichi Goto Zhihua Yin Jianxin Shi Atsushi Takahashi Akiteru Goto Yoshihiro Minamiya Kimihiro Shimizu Kazumi Tanaka Tangchun Wu Fusheng Wei Jason Y Y Wong Fumihiko Matsuda Jian Su Yeul Hong Kim In-Jae Oh Fengju Song Victor Ho Fun Lee Wu-Chou Su Yuh-Min Chen Gee-Chen Chang Kuan-Yu Chen Ming-Shyan Huang Pan-Chyr Yang Hsien-Chih Lin Yong-Bing Xiang Adeline Seow Jae Yong Park Sun-Seog Kweon Chien-Jen Chen Haixin Li Yu-Tang Gao Chen Wu Biyun Qian Daru Lu Jianjun Liu Hyo-Sung Jeon Chin-Fu Hsiao Jae Sook Sung Ying-Huang Tsai Yoo Jin Jung Huan Guo Zhibin Hu Wen-Chang Wang Charles C Chung Charles Lawrence Laurie Burdett Meredith Yeager Kevin B Jacobs Amy Hutchinson Sonja I Berndt Xingzhou He Wei Wu Junwen Wang Yuqing Li Jin Eun Choi Kyong Hwa Park Sook Whan Sung Li Liu Chang Hyun Kang Lingmin Hu Chung-Hsing Chen Tsung-Ying Yang Jun Xu Peng Guan Wen Tan Chih-Liang Wang Alan Dart Loon Sihoe Ying Chen Yi Young Choi Jen-Yu Hung Jun Suk Kim Ho-Il Yoon Qiuyin Cai Chien-Chung Lin In Kyu Park Ping Xu Jing Dong Christopher Kim Qincheng He Reury-Perng Perng Chih-Yi Chen Roel Vermeulen Junjie Wu Wei-Yen Lim Kun-Chieh Chen John K C Chan Minjie Chu Yao-Jen Li Jihua Li Hongyan Chen Chong-Jen Yu Li Jin Yen-Li Lo Ying-Hsiang Chen Joseph F Fraumeni Jie Liu Taiki Yamaji Yang Yang Belynda Hicks Kathleen Wyatt Shengchao A Li Division of Cancer Epidemiology and Genetics National Cancer Institute Bethesda MD USA. Saw Swee Hock School of Public Health National University of Singapore and National University Health System Singapore. Division of Molecular Medicine Aichi Cancer Center Research Institute Nagoya Japan. Institute of Population Health Sciences National Health Research Institutes Zhunan Taiwan. Division of Genome Biology National Cancer Center Research Institute Tokyo Japan. Department of Statistics Sookmyung Women's University Seoul Republic of Korea. Department of Preventive Medicine Chonnam National University Medical School Gwangju Republic of Korea. Department of Pathology The University of Hong Kong Queen Mary Hospital Hong Kong. Department of Preventive Medicine Seoul National University College of Medicine Seoul Republic of Korea. Department of Epidemiology and Population Health Albert Einstein College of Medicine Bronx NY USA. Department of Computational Biology St. Jude Children's Research Hospital Memphis TN 38105 USA. National Institute of Cancer Research National Health Research Institutes Zhunan Taiwan. Ministry of Education Key Laboratory of Contemporary Anthropology School of Life Sciences Fudan University Shanghai People's Republic of China. State Key Laboratory of Genetic Engineering School of Life Sciences Fudan University Shanghai People's Republic of China. Division of Thoracic Surgery Kinki University School of Medicine Sayama Japan. Division of Epidemiology Department of Medicine Vanderbilt University Medical Center and Vanderbilt-Ingram Cancer Center Nashville TN USA. Department of Integrative Bioscience & Biotechnology Sejong University Seoul Republic of Korea. Department of Epidemiology School of Public Health China Medical University Shenyang People's Republic of China. Guangdong Lung Cancer Institute Medical Research Center and Cancer Center of Guangdong General Hospital Guangdong Academy of Medical Sciences Guangzhou People's Republic

To evaluate associations by EGFR mutation status for lung adenocarcinoma risk among never-smoking Asian women, we conducted a meta-analysis of 11 loci previously identified in genome-wide association studies (GWAS). Genotyping in an additional 10,780 never-smoking cases and 10,938 never-smoking controls from Asia confirmed associations with eight known single nucleotide polymorphisms (SNPs). Two new signals were observed at genome-wide significance (P < 5 × 10-8), namely, rs7216064 (17q24.3, BPTF), for overall lung adenocarcinoma risk, and rs3817963 (6p21.3, BTNL2) which is specific to cases with EGFR mutations. In further sub-analyses by EGFR status, rs9387478 (ROS1/DCBLD1) and rs2179920 (HLA-DPB1) showed stronger estimated associations in EGFR-positive compared to EGFR-negative cases. Comparison of the overall associations with published results in Western populations revealed that the majority of these findings were distinct, underscoring the importance of distinct contributing factors for smoking and non-smoking lung cancer. Our results extend the catalogue of regions associated with lung adenocarcinoma in non-smoking Asian women and highlight the importance of how the germline could inform risk for specific tumour mutation patterns, which could have important translational implications.

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Plasma membrane regulates Ras signaling networks

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Cellular logistics 2016年第4期5卷 e1136374页

作者： Tanmay Sanjeev Chavan Serena Muratcioglu Richard Marszalek Hyunbum Jang Ozlem Keskin Attila Gursoy Ruth Nussinov Vadim Gaponenko Department of Medicinal Chemistry University of Illinois at Chicago Chicago IL USA. Center for Computational Biology and Bioinformatics Koc University Istanbul Turkey. Department of Biochemistry and Molecular Genetics Cancer and Inflammation Program Basic Science Program Leidos Biomedical Research Inc. Frederick National Laboratory for Cancer Research National Cancer Institute at Frederick Frederick MD USA. Frederick MD USA Sackler Institute of Molecular Medicine Department of Human Genetics and Molecular Medicine Sackler School of Medicine Tel Aviv University Tel Aviv Israel.

Ras GTPases activate more than 20 signaling pathways, regulating such essential cellular functions as proliferation, survival, and migration. How Ras proteins control their signaling diversity is still a mystery. Several pieces of evidence suggest that the plasma membrane plays a critical role. Among these are: (1) selective recruitment of Ras and its effectors to particular localities allowing access to Ras regulators and effectors; (2) specific membrane-induced conformational changes promoting Ras functional diversity; and (3) oligomerization of membrane-anchored Ras to recruit and activate Raf. Taken together, the membrane does not only attract and retain Ras but also is a key regulator of Ras signaling. This can already be gleaned from the large variability in the sequences of Ras membrane targeting domains, suggesting that localization, environment and orientation are important factors in optimizing the function of Ras isoforms.

关键词： Ras GTPases Ras oligomerization Ras signaling lipid rafts membrane microdomains plasma membrane

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Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

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Nature genetics 2018年第5期50卷 766-767页

作者： Valérie Turcot Yingchang Lu Heather M Highland Claudia Schurmann Anne E Justice Rebecca S Fine Jonathan P Bradfield Tõnu Esko Ayush Giri Mariaelisa Graff Xiuqing Guo Audrey E Hendricks Tugce Karaderi Adelheid Lempradl Adam E Locke Anubha Mahajan Eirini Marouli Suthesh Sivapalaratnam Kristin L Young Tamuno Alfred Mary F Feitosa Nicholas G D Masca Alisa K Manning Carolina Medina-Gomez Poorva Mudgal Maggie C Y Ng Alex P Reiner Sailaja Vedantam Sara M Willems Thomas W Winkler Gonçalo Abecasis Katja K Aben Dewan S Alam Sameer E Alharthi Matthew Allison Philippe Amouyel Folkert W Asselbergs Paul L Auer Beverley Balkau Lia E Bang Inês Barroso Lisa Bastarache Marianne Benn Sven Bergmann Lawrence F Bielak Matthias Blüher Michael Boehnke Heiner Boeing Eric Boerwinkle Carsten A Böger Jette Bork-Jensen Michiel L Bots Erwin P Bottinger Donald W Bowden Ivan Brandslund Gerome Breen Murray H Brilliant Linda Broer Marco Brumat Amber A Burt Adam S Butterworth Peter T Campbell Stefania Cappellani David J Carey Eulalia Catamo Mark J Caulfield John C Chambers Daniel I Chasman Yii-Der I Chen Rajiv Chowdhury Cramer Christensen Audrey Y Chu Massimiliano Cocca Francis S Collins James P Cook Janie Corley Jordi Corominas Galbany Amanda J Cox David S Crosslin Gabriel Cuellar-Partida Angela D'Eustacchio John Danesh Gail Davies Paul I W Bakker Mark C H Groot Renée Mutsert Ian J Deary George Dedoussis Ellen W Demerath Martin Heijer Anneke I Hollander Hester M Ruijter Joe G Dennis Josh C Denny Emanuele Di Angelantonio Fotios Drenos Mengmeng Du Marie-Pierre Dubé Alison M Dunning Douglas F Easton Todd L Edwards David Ellinghaus Patrick T Ellinor Paul Elliott Evangelos Evangelou Aliki-Eleni Farmaki I Sadaf Farooqi Jessica D Faul Sascha Fauser Shuang Feng Ele Ferrannini Jean Ferrieres Jose C Florez Ian Ford Myriam Fornage Oscar H Franco Andre Franke Paul W Franks Nele Friedrich Ruth Frikke-Schmidt Tessel E Galesloot Wei Gan Ilaria Gandin Paolo Gasparini Jane Gibson Vilmantas Giedraitis Anette P Gjesing Penny Gordon-Larsen Mathias Gorski Hans-Jörgen 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 M

In the version of this article originally published, one of the two authors with the name Wei Zhao was omitted from the author list and the affiliations for both authors were assigned to the single Wei Zhao in the author list. In addition, the ORCID for Wei Zhao (Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA) was incorrectly assigned to author Wei Zhou. The errors have been corrected in the HTML and PDF versions of the article.

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Author Correction: Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps

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Nature genetics 2018年第12期50卷 1752页

作者： Valentina Iotchkova Jie Huang John A Morris Deepti Jain Caterina Barbieri Klaudia Walter Josine L Min Lu Chen William Astle Massimilian Cocca Patrick Deelen Heather Elding Aliki-Eleni Farmaki Christopher S Franklin Mattias Franberg Tom R Gaunt Albert Hofman Tao Jiang Marcus E Kleber Genevieve Lachance Jian'an Luan Giovanni Malerba Angela Matchan Daniel Mead Yasin Memari Ioanna Ntalla Kalliope Panoutsopoulou Raha Pazoki John R B Perry Fernando Rivadeneira Maria Sabater-Lleal Bengt Sennblad So-Youn Shin Lorraine Southam Michela Traglia Freerk van Dijk Elisabeth M van Leeuwen Gianluigi Zaza Weihua Zhang Najaf Amin Adam Butterworth John C Chambers George Dedoussis Abbas Dehghan Oscar H Franco Lude Franke Mattia Frontini Giovanni Gambaro Paolo Gasparini Anders Hamsten Aaron Isaacs Jaspal S Kooner Charles Kooperberg Claudia Langenberg Winfried Marz Robert A Scott Morris A Swertz Daniela Toniolo Andre G Uitterlinden Cornelia M van Duijn Hugh Watkins Eleftheria Zeggini Mathew T Maurano Nicholas J Timpson Alexander P Reiner Paul L Auer Nicole Soranzo European Molecular Biology Laboratory European Bioinformatics Institute Wellcome Trust Genome Campus Hinxton UK. Human Genetics Wellcome Trust Sanger Institute Hinxton UK. Boston VA Research Institute Boston Massachusetts USA. Centre for Clinical Epidemiology Lady Davis Institute for Medical Research Jewish General Hospital McGill University Montreal Quebec Canada. Department of Human Genetics McGill University Montreal Quebec Canada. Department of Biostatistics University of Washington Seattle Washington USA. Division of Genetics and Cell Biology San Raffaele Scientific Institute Milan Italy. MRC Integrative Epidemiology Unit School of Social and Community Medicine University of Bristol Bristol UK. Department of Hematology University of Cambridge Cambridge UK. Department of Public Health and Primary Care University of Cambridge Cambridge UK. Medical Genetics Institute for Maternal and Child Health IRCCS 'Burlo Garofolo' Trieste Italy. Department of Medical Surgical and Health Sciences University of Trieste Trieste Italy. University of Groningen University Medical Center Groningen Genomics Coordination Center Groningen The Netherlands. University of Groningen University Medical Center Groningen Department of Genetics Groningen The Netherlands. Department of Nutrition and Dietetics School of Health Science and Education Harokopio University Athens Greece. Cardiovascular Medicine Unit Department of Medicine Karolinska Institute Stockholm Sweden. Department of Epidemiology Erasmus University Medical Center Rotterdam The Netherlands. Department of Epidemiology Harvard T.H. Chan School of Public Health Boston Massachusetts USA. Medical Clinic V (Nephrology Hypertensiology Rheumatology Endocrinology Diabetology) Mannheim Medical Faculty Heidelberg University Mannheim Germany. Department of Twin Research and Genetic Epidemiology King's College London London UK. MRC Epidemiology Unit University of Cambridge School of Clinical Medicine Institu

In the version of the article published, the surname of author Aaron Isaacs is misspelled as Issacs.

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Target specificity of the CRISPR-Cas9 system

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Quantitative biology 2014年第2期2卷 59-70页

作者： Xuebing Wu Andrea J.Kriz Phillip A.Sharp David H.Koch Institute for Integrative Cancer Research Massachusetts Institute of Technology Computational and Systems Biology Graduate Program Massachusetts Institute of Technology Department of Biology Massachusetts Institute of Technology

The CRISPR-Cas9 system, naturally a defense mechanism in prokaryotes, has been repurposed as an RNA-guided DNA targeting platform. It has been widely used for genome editing and transcriptome modulation, and has shown great promise in correcting mutations in human genetic diseases. Off-target effects are a critical issue for all of these applications. Here we review the current status on the target specificity of the CRISPR-Cas9 system.

关键词： CRISPR Cas9 genome engineering off-targets target specificity

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Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

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Nature genetics 2019年第9期51卷 1423-1424页

作者： Brian W Kunkle Benjamin Grenier-Boley Rebecca Sims Joshua C Bis Vincent Damotte Adam C Naj Anne Boland Maria Vronskaya Sven J van der Lee Alexandre Amlie-Wolf Céline Bellenguez Aura Frizatti Vincent Chouraki Eden R Martin Kristel Sleegers Nandini Badarinarayan Johanna Jakobsdottir Kara L Hamilton-Nelson Sonia Moreno-Grau Robert Olaso Rachel Raybould Yuning Chen Amanda B Kuzma Mikko Hiltunen Taniesha Morgan Shahzad Ahmad Badri N Vardarajan Jacques Epelbaum Per Hoffmann Merce Boada Gary W Beecham Jean-Guillaume Garnier Denise Harold Annette L Fitzpatrick Otto Valladares Marie-Laure Moutet Amy Gerrish Albert V Smith Liming Qu Delphine Bacq Nicola Denning Xueqiu Jian Yi Zhao Maria Del Zompo Nick C Fox Seung-Hoan Choi Ignacio Mateo Joseph T Hughes Hieab H Adams John Malamon Florentino Sanchez-Garcia Yogen Patel Jennifer A Brody Beth A Dombroski Maria Candida Deniz Naranjo Makrina Daniilidou Gudny Eiriksdottir Shubhabrata Mukherjee David Wallon James Uphill Thor Aspelund Laura B Cantwell Fabienne Garzia Daniela Galimberti Edith Hofer Mariusz Butkiewicz Bertrand Fin Elio Scarpini Chloe Sarnowski Will S Bush Stéphane Meslage Johannes Kornhuber Charles C White Yuenjoo Song Robert C Barber Sebastiaan Engelborghs Sabrina Sordon Dina Voijnovic Perrie M Adams Rik Vandenberghe Manuel Mayhaus L Adrienne Cupples Marilyn S Albert Peter P De Deyn Wei Gu Jayanadra J Himali Duane Beekly Alessio Squassina Annette M Hartmann Adelina Orellana Deborah Blacker Eloy Rodriguez-Rodriguez Simon Lovestone Melissa E Garcia Rachelle S Doody Carmen Munoz-Fernadez Rebecca Sussams Honghuang Lin Thomas J Fairchild Yolanda A Benito Clive Holmes Hata Karamujić-Čomić Matthew P Frosch Hakan Thonberg Wolfgang Maier Gennady Roshchupkin Bernardino Ghetti Vilmantas Giedraitis Amit Kawalia Shuo Li Ryan M Huebinger Lena Kilander Susanne Moebus Isabel Hernández M Ilyas Kamboh RoseMarie Brundin James Turton Qiong Yang Mindy J Katz Letizia Concari Jenny Lord Alexa S Beiser C Dirk Keene Seppo Helisalmi Iwona Kloszewska Walter A Kukull Anne Maria Koivisto Aoibhin John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine Miami FL USA. bkunkle@miami.edu. Inserm U1167 RID-AGE-Risk Factors and Molecular Determinants of Aging-Related Diseases Lille France. Institut Pasteur de Lille Lille France. Univ. Lille U1167-Excellence Laboratory LabEx DISTALZ Lille France. Division of Psychological Medicine and Clinical Neurosciences MRC Centre for Neuropsychiatric Genetics and Genomics Cardiff University Cardiff UK. UK Dementia Research Institute at Cardiff Cardiff University Cardiff UK. Cardiovascular Health Research Unit Department of Medicine University of Washington Seattle WA USA. Department of Biostatistics and Epidemiology/Center for Clinical Epidemiology and Biostatistics University of Pennsylvania Perelman School of Medicine Philadelphia PA USA. Centre National de Recherche en Génomique Humaine Institut de Biologie François Jacob CEA Université Paris-Saclay and LabEx GENMED Evry France. Department of Epidemiology Erasmus Medical Center Rotterdam the Netherlands. Penn Neurodegeneration Genomics Center Department of Pathology and Laboratory Medicine University of Pennsylvania Perelman School of Medicine Philadelphia PA USA. Framingham Heart Study Framingham MA USA. Department of Neurology Boston University School of Medicine Boston MA USA. John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine Miami FL USA. Neurodegenerative Brain Diseases Group Center for Molecular Neurology VIB Antwerp Belgium. Laboratory for Neurogenetics Institute Born-Bunge University of Antwerp Antwerp Belgium. Icelandic Heart Association Kopavogur Iceland. Research Center and Memory Clinic of Fundació ACE Institut Català de Neurociències Aplicades-Universitat Internacional de Catalunya Barcelona Spain. Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas Instituto de Salud Carlos III Madrid Spain. Department of Biostatistics Boston University Sch

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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Estimates, trends, and drivers of the global burden of type 2 diabetes attributable to PM_2·5 air pollution, 1990–2019: an analysis of data from the Global Burden of Disease Study 2019

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The Lancet Planetary Health 2022年第7期6卷 e586-e600页

作者： Burkart, Katrin Causey, Kate Cohen, Aaron J Wozniak, Sarah S Salvi, Devashri Digvijay Abbafati, Cristiana Adekanmbi, Victor Adsuar, Jose C Ahmadi, Keivan Alahdab, Fares Al-Aly, Ziyad Alipour, Vahid Alvis-Guzman, Nelson Amegah, Adeladza Kofi Andrei, Catalina Liliana Andrei, Tudorel Ansari, Fereshteh Arabloo, Jalal Aremu, Olatunde Aripov, Timur Babaee, Ebrahim Banach, MacIej Barnett, Anthony Bärnighausen, Till Winfried Bedi, Neeraj Behzadifar, Masoud Béjot, Yannick Bennett, Derrick A Bensenor, Isabela M Bernstein, Robert S Bhattacharyya, Krittika Bijani, Ali Biondi, Antonio Bohlouli, Somayeh Breitner, Susanne Brenner, Hermann Butt, Zahid A Cámera, Luis Alberto Cantu-Brito, Carlos Carvalho, Felix Cerin, Ester Chattu, Vijay Kumar Chauhan, Bal Govind Choi, Jee-Young Jasmine Chu, Dinh-Toi Dai, Xiaochen Dandona, Lalit Dandona, Rakhi Daryani, Ahmad Davletov, Kairat De Courten, Barbora Demeke, Feleke Mekonnen Denova-Gutiérrez, Edgar Dharmaratne, Samath Dhamminda Dhimal, Meghnath Diaz, Daniel Djalalinia, Shirin Duncan, Bruce B El Sayed Zaki, Maysaa Eskandarieh, Sharareh Fareed, Mohammad Farzadfar, Farshad Fattahi, Nazir Fazlzadeh, Mehdi Fernandes, Eduarda Filip, Irina Fischer, Florian Foigt, Nataliya A Freitas, Marisa Ghashghaee, Ahmad Gill, Paramjit Singh Ginawi, Ibrahim Abdelmageed Gopalani, Sameer Vali Guo, Yuming Gupta, Rajat Das Habtewold, Tesfa Dejenie Hamadeh, Randah R Hamidi, Samer Hankey, Graeme J Hasanpoor, Edris Hassen, Hamid Yimam Hay, Simon I Heibati, Behzad Hole, Michael K Hossain, Naznin Househ, Mowafa Irvani, Seyed Sina Naghibi Jaafari, Jalil Jakovljevic, Mihajlo Jha, Ravi Prakash Jonas, Jost B Jozwiak, Jacek Jerzy Kasaeian, Amir Kaydi, Neda Khader, Yousef Saleh Khafaie, Morteza Abdullatif Khan, Ejaz Ahmad Khan, Junaid Khan, Md Nuruzzaman Khatab, Khaled Khater, Amir M Kim, Yun Jin Kimokoti, Ruth W Kisa, Adnan Kivimäki, Mika Knibbs, Luke D Kosen, Soewarta Koul, Parvaiz A Koyanagi, Ai Defo, Barthelemy Kuate Kugbey, Nuworza Lauriola, Paolo Lee, Paul H Leili, Mostafa Lewycka, Sonia Li, Shanshan Lim, Lee-Ling Li 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 Plastic and Reconstructive Surgery University of Washington Seattle WA United States Research Insights and Innovation Seattle WA United States Health Effects Institute Boston MA United States School of Public Health Boston University Boston MA United States Department of Juridical and Economic Studies La Sapienza University Rome Italy Department of Population Medicine Cardiff University Cardiff United Kingdom Sport Science Department University of Extremadura Badajoz Spain School of Public Health Imperial College London London United Kingdom Department of Primary Care and Public Health Imperial College London London United Kingdom Mayo Evidence-based Practice Center Mayo Clinic Foundation for Medical Education and Research Rochester MN United States John T. Milliken Department of Internal Medicine Washington University in St. Louis St. Louis MO United States Clinical Epidemiology Center US Department of Veterans Affairs (VA) St Louis MO United States Health Management and Economics Research Center Iran University of Medical Sciences Tehran Iran Department of Health Economics Iran University of Medical Sciences Tehran Iran Preventive Medicine and Public Health Research Center Iran University of Medical Sciences Tehran Iran Pars Advanced and Minimally Invasive Medical Manners Research Center Iran University of Medical Sciences Tehran Iran Department of Community and Family Medicine Iran University of Medical Sciences Tehran Iran Research Group in Hospital Management and Health Policies Universidad de la Costa (University of the Coast) Barranquilla Colombia Research Group in Health Economics University of Cartagena Cartagena Colombia Department of Biomedical Science University of Cape Coast Cape Coast Ghana Cardiology Department Ca

Background: Experimental and epidemiological studies indicate an association between exposure to particulate matter (PM) air pollution and increased risk of type 2 diabetes. In view of the high and increasing prevalence of diabetes, we aimed to quantify the burden of type 2 diabetes attributable to PM_2·5 originating from ambient and household air pollution. Methods: We systematically compiled all relevant cohort and case-control studies assessing the effect of exposure to household and ambient fine particulate matter (PM_2·5) air pollution on type 2 diabetes incidence and mortality. We derived an exposure–response curve from the extracted relative risk estimates using the MR-BRT (meta-regression—Bayesian, regularised, trimmed) tool. The estimated curve was linked to ambient and household PM_2·5 exposures from the Global Burden of Diseases, Injuries, and Risk Factors Study 2019, and estimates of the attributable burden (population attributable fractions and rates per 100 000 population of deaths and disability-adjusted life-years) for 204 countries from 1990 to 2019 were calculated. We also assessed the role of changes in exposure, population size, age, and type 2 diabetes incidence in the observed trend in PM_2·5-attributable type 2 diabetes burden. All estimates are presented with 95% uncertainty intervals. Findings: In 2019, approximately a fifth of the global burden of type 2 diabetes was attributable to PM_2·5 exposure, with an estimated 3·78 (95% uncertainty interval 2·68–4·83) deaths per 100 000 population and 167 (117–223) disability-adjusted life-years (DALYs) per 100 000 population. Approximately 13·4% (9·49–17·5) of deaths and 13·6% (9·73–17·9) of DALYs due to type 2 diabetes were contributed by ambient PM2·5, and 6·50% (4·22–9·53) of deaths and 5·92% (3·81–8·64) of DALYs by household air pollution. High burdens, in terms of numbers as well as rates, were estimated in Asia, sub-Saharan Africa, and South Am

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CSIG-15. PROTEOMIC AND PHOSPHOPROTEOMIC ANALYSIS OF HUMAN MEDULLOBLASTOMA REVEALS DISTINCT ACTIVATED PATHWAYS BETWEEN SUBGROUPS

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Neuro-Oncology 2017年第SUPPL_6期19卷 vi52-vi53页

作者： Forget, Antoine Loredana, Martignetti Brabetz, Sebastian Picard, Daniel Puget, Stephanie Calzone, Laurence Poullet, Patrick Montagud, Arnau Liva, Stephane Dingli, Florent Arras, Guillaume Yu, Hua Mercier, Audrey Pouponnot, Celio Loew, Damarys Bourdeaut, Franck Dufour, Christelle Varlet, Pascale Taylor, Michael Kool, Marcel Pfister, Stefan M Barillot, Emmanuel Remke, Marc Olivier, Ayrault ”Signaling in development and brain tumors” Institut Curie Curie / CNRS UMR 3347 / INSERM U1021 Orsay France Computational and Systems Biology of Cancer Institut Curie Paris France Paris France Division of Pediatric Neurooncology German Cancer Research Center (DKFZ) Heidelberg Germany Division of Neurosurgery Arthur and Sonia Labatt Brain Tumour Research Center University of Toronto Toronto ON Canada AP-HP Department of Neurosurgery Necker-Enfants Malades Hospital Université René Descartes Paris France Proteomics and Mass Spectrometry Laboratory Institut Curie PSL Research University Paris France ”Raf and Maf Signaling in Oncogenesis and Development” Institut Curie Curie / CNRS UMR 3347 / INSERM U1021 France Paris France Paris Sciences-Lettres Research University Institut Curie Departement d’Oncologie Pediatrique-Adolescents et Jeunes adultes Paris France Gustave Roussy Paris France Hôpital Sainte-Anne Paris France Division of Neurosurgery Hospital for Sick Children Toronto ON Canada German Cancer Research Center Heidelberg Heidelberg Germany Division of Pediatric Neurooncology Pre-Clinical program Hopp Children’s Cancer Center at the NCT (KiTZ) German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK) Heidelberg Germany Deutsches Krebsforschungszentrum (DKFZ) Dusseldorf Germany

Deregulations in fundamental signaling pathways are key events in pathogenesis of cancer. One intriguing illustration that still holds blind spots is the pediatric brain tumor arising from the developing cerebellum: medulloblastoma (MB). Extensive high-throughput sequencing led to the characterization of four MB subgroups (WNT, SHH, Group 3 and Group 4) delineated with distinct molecular signatures and clinical outcomes. However, up-to-date these analyses have not attained the global comprehension of their dynamic network complexity. Wishing to get a comprehensive view of all MB subgroups we employed a multi-scale analysis to integrate genomic copy number (CN), DNA methylation, mRNA, protein and phosphorylation levels across 38 flash frozen primary human MBs (5 WNT, 10 SHH, 10 Group 3 and 13 Group 4). Our proteomic analysis allows to distinguish the four MB subgroups. Interestingly, Group 4 MB is particularly distinguishable from the other subgroups based on phosphorylation profile. Moreover, integration of all omic layers by similarity network fusion allowed precise definition of the four subgroups. Correlation studies between CN, RNA and protein levels showed convergent effects of CN alterations toward cell cycle, RNA and nucleotide metabolism. Importantly, protein levels were poorly predicted by levels of corresponding mRNA with consequence on active pathway prediction. This observation was of particular importance in Group 4 MB in which protein and phosphorylation levels allowed the identification of pathways that were unable to be predicted by RNA data. Ultimately, this led us to the characterization of potential biomarkers of Group 4 MB and promising targetable pathways across subgroups. Altogether, combined multi-scale analyses of MB have allowed us to identify and prioritize novel molecular drivers involved in human MB genesis and progression.

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