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Author Correction: Conserved and divergent gene regulatory programs of the mammalian neocortex

Nature 2024年第7996期625卷 E26页

作者： Nathan R Zemke Ethan J Armand Wenliang Wang Seoyeon Lee Jingtian Zhou Yang Eric Li Hanqing Liu Wei Tian Joseph R Nery Rosa G Castanon Anna Bartlett Julia K Osteen Daofeng Li Xiaoyu Zhuo Vincent Xu Lei Chang Keyi Dong Hannah S Indralingam Jonathan A Rink Yang Xie Michael Miller Fenna M Krienen Qiangge Zhang Naz Taskin Jonathan Ting Guoping Feng Steven A McCarroll Edward M Callaway Ting Wang Ed S Lein M Margarita Behrens Joseph R Ecker Bing Ren Department of Cellular and Molecular Medicine University of California San Diego School of Medicine La Jolla CA USA. Center for Epigenomics University of California San Diego School of Medicine La Jolla CA USA. Bioinformatics and Systems Biology Program University of California San Diego La Jolla CA USA. Genomic Analysis Laboratory The Salk Institute for Biological Studies La Jolla CA USA. Division of Biological Sciences University of California San Diego La Jolla CA USA. Computational Neurobiology Laboratory The Salk Institute for Biological Studies La Jolla CA USA. Department of Genetics The Edison Family Center for Genome Sciences & Systems Biology Washington University School of Medicine St Louis MO USA. Princeton Neuroscience Institute Princeton University Princeton NJ USA. Department of Genetics Harvard Medical School Boston USA. Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA USA. McGovern Institute for Brain Research Department of Brain and Cognitive Sciences Massachusetts Institute of Technology Cambridge MA USA. Allen Institute for Brain Science Seattle WA USA. Systems Neurobiology Laboratories The Salk Institute for Biological Studies La Jolla CA USA. Department of Neurosciences University of California San Diego La Jolla CA USA. McDonnell Genome Institute Washington University School of Medicine St. Louis MO USA. Department of Neurological Surgery University of Washington Seattle WA USA. Genomic Analysis Laboratory The Salk Institute for Biological Studies La Jolla CA USA. ecker@salk.edu. Howard Hughes Medical Institute The Salk Institute for Biological Studies La Jolla CA USA. ecker@salk.edu. Department of Cellular and Molecular Medicine University of California San Diego School of Medicine La Jolla CA USA. biren@ucsd.edu. Center for Epigenomics University of California San Diego School of Medicine La Jolla CA USA. biren@ucsd.edu. Institute of Genomic Medicine Moores Cancer C

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Transcript expression-aware annotation improves rare variant interpretation (vol 581, pg 452, 2020)

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NATURE 2021年第7846期590卷 E54-E54页

作者： Cummings, Beryl B. Karczewski, Konrad J. Kosmicki, Jack A. Seaby, Eleanor G. Watts, Nicholas A. Singer-Berk, Moriel Mudge, Jonathan M. Karjalainen, Juha Satterstrom, F. Kyle O'Donnell-Luria, Anne H. Poterba, Timothy Seed, Cotton Solomonson, Matthew Alfoldi, Jessica Daly, Mark J. MacArthur, Daniel G. Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Analytical and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Program in Biological and Biomedical Sciences Harvard Medical School Boston MA USA Program in Bioinformatics and Integrative Genomics Harvard Medical School Boston MA USA Genomic Informatics Group University Hospital Southampton Southampton UK Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA USA Division of Genetics and Genomics Boston Children’s Hospital Boston MA USA Department of Pediatrics Harvard Medical School Boston MA USA European Molecular Biology Laboratory European Bioinformatics Institute Wellcome Genome Campus Hinxton Cambridge UK Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Broad Genomics Broad Institute of MIT and Harvard Cambridge MA USA National Heart & Lung Institute and MRC London Institute of Medical Sciences Imperial College London London UK Cardiovascular Research Centre Royal Brompton & Harefield Hospitals NHS Trust London UK Cardiac Arrhythmia Service and Cardiovascular Research Center Massachusetts General Hospital Boston MA USA Estonian Genome Center Institute of Genomics University of Tartu Tartu Estonia Department of Medicine Harvard Medical School Boston MA USA Cardiac Arrhythmia Service Massachusetts General Hospital Boston MA USA Division of General Internal Medicine Massachusetts General Hospital Boston MA USA Institute for Molecular Medicine FIMM University of Helsinki Helsinki Finland Department of Public Health Faculty of Medicine University of Helsinki Helsinki Finland Department of Genetics Harvard Medical School Boston MA USA Data Sciences Platform Broad Institute of MIT and Harvard Cambridge MA USA Genomics Platform Broad Institute of MIT and Harvard Cambridge MA USA Wellcome Sanger Institute Hinxton Cambridgeshire UK Unidad de Investigaci

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Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

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Nature communications 2018年第1期9卷 3493页

作者： Seyedeh M Zekavat Sanni Ruotsalainen Robert E Handsaker Maris Alver Jonathan Bloom Timothy Poterba Cotton Seed Jason Ernst Mark Chaffin Jesse Engreitz Gina M Peloso Ani Manichaikul Chaojie Yang Kathleen A Ryan Mao Fu W Craig Johnson Michael Tsai Matthew Budoff Ramachandran S Vasan L Adrienne Cupples Jerome I Rotter Stephen S Rich Wendy Post Braxton D Mitchell Adolfo Correa Andres Metspalu James G Wilson Veikko Salomaa Manolis Kellis Mark J Daly Benjamin M Neale Steven McCarroll Ida Surakka Tonu Esko Andrea Ganna Samuli Ripatti Sekar Kathiresan Pradeep Natarajan Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA 02142 USA. Yale School of Medicine New Haven CT 06510 USA. Department of Computational Biology & Bioinformatics Yale University New Haven CT 06510 USA. Institute for Molecular Medicine University of Helsinki Helsinki Finland. Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA 02142 USA. Department of Genetics Harvard Medical School Boston MA 02115 USA. Department of Biotechnology Institute of Molecular and Cell Biology University of Tartu Tartu Estonia. Estonian Genome Center Tallinn Estonia. Analytic and Translational Genetics Unit Boston MA 02142 USA. Department of Biological Chemistry University of California Los Angeles Los Angeles CA 90095 USA. Department of Biostatistics Boston University School of Public Health Boston MA 02118 USA. Center for Public Health Genomics University of Virginia Charlottesville VA 22904 USA. Program in Personalized and Genomic Medicine Division of Endocrinology Diabetes & Nutrition Department of Medicine University of Maryland School of Medicine Baltimore MD 21201 USA. Department of Biostatistics School of Public Health and Community Medicine University of Washington Seattle WA 98195 USA. Department of Laboratory Medicine and Pathology University of Minnesota Minneapolis MN 55455 USA. Division of Cardiology Harbor-UCLA Medical Center Los Angeles Biomedical Research Institute Los Angeles CA 90509 USA. NHLBI Framingham Heart Study Framingham MA 20892 USA. Sections of Preventive medicine and Epidemiology and cardiovascular medicine Departments of Medicine and Epidemiology Boston university Schools of Medicine and Public health Boston MA 02118 USA. Departments of Pediatrics and Medicine The Institute for Translational Genomics and Population Sciences Los Angeles Biomedical Research Institute Harbor-UCLA Medical Center Torrance CA 90509 USA. Division of Cardiology

The original version of this article contained an error in the name of the author Ramachandran S. Vasan, which was incorrectly given as Vasan S. Ramachandran. This has now been corrected in both the PDF and HTML versi...

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Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

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Nature communications 2020年第1期11卷 1715页

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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A structural variation reference for medical and population genetics (vol 581, pg 444, 2020)

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NATURE 2021年第7846期590卷 E55-E55页

作者： Collins, Ryan L. Brand, Harrison Karczewski, Konrad J. Zhao, Xuefang Alfoldi, Jessica Francioli, Laurent C. Khera, Amit V. Lowther, Chelsea Gauthier, Laura D. Wang, Harold Watts, Nicholas A. Solomonson, Matthew O'Donnell-Luria, Anne Baumann, Alexander Munshi, Ruchi Walker, Mark Whelan, Christopher W. Huang, Yongqing Brookings, Ted Sharpe, Ted Stone, Matthew R. Valkanas, Elise Fu, Jack Tiao, Grace Laricchia, Kristen M. Ruano-Rubio, Valentin Stevens, Christine Gupta, Namrata Cusick, Caroline Margolin, Lauren Taylor, Kent D. Lin, Henry J. Rich, Stephen S. Post, Wendy S. Chen, Yii-Der Ida Rotter, Jerome I. Nusbaum, Chad Philippakis, Anthony Lander, Eric Gabriel, Stacey Neale, Benjamin M. Kathiresan, Sekar Daly, Mark J. Banks, Eric MacArthur, Daniel G. Talkowski, Michael E. Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Division of Medical Sciences Harvard Medical School Boston MA USA Department of Neurology Massachusetts General Hospital and Harvard Medical School Boston MA USA Analytical and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Department of Medicine Harvard Medical School Boston MA USA Data Science Platform Broad Institute of MIT and Harvard Cambridge MA USA Broad Genomics Broad Institute of MIT and Harvard Cambridge MA USA European Molecular Biology Laboratory European Bioinformatics Institute Wellcome Genome Campus Hinxton Cambridge UK Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA USA Division of Genetics and Genomics Boston Children’s Hospital Boston MA USA Department of Pediatrics Harvard Medical School Boston MA USA National Heart & Lung Institute and MRC London Institute of Medical Sciences Imperial College London London UK Cardiovascular Research Centre Royal Brompton & Harefield Hospitals NHS Trust London UK Cardiac Arrhythmia Service Cardiovascular Research Center Massachusetts General Hospital Boston MA USA Estonian Genome Center Institute of Genomics University of Tartu Tartu Estonia Diabetes Unit Massachusetts General Hospital Boston MA USA Program in Metabolism Broad Institute of MIT and Harvard Cambridge MA USA Division of Cardiology Massachusetts General Hospital Boston MA USA Cardiovascular Disease Initiative Broad Institute of MIT and Harvard Cambridge MA USA Division of General Internal Medicine Massachusetts General Hospital Boston MA USA Institute for Molecular Medicine Finland (FIMM) HiLIFE University of Helsinki Helsinki Finland Department of Public Health Faculty of Medicine University

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

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NATURE GENETICS 2018年第5期50卷 765-766页

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

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

关键词： Genome-wide association studies Obesity

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Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk

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European journal of human genetics : EJHG 2022年第5期30卷 630-631页

作者： Eileen O Dareng Jonathan P Tyrer Daniel R Barnes Michelle R Jones Xin Yang Katja K H Aben Muriel A Adank Simona Agata Irene L Andrulis Hoda Anton-Culver Natalia N Antonenkova Gerasimos Aravantinos Banu K Arun Annelie Augustinsson Judith Balmaña Elisa V Bandera Rosa B Barkardottir Daniel Barrowdale Matthias W Beckmann Alicia Beeghly-Fadiel Javier Benitez Marina Bermisheva Marcus Q Bernardini Line Bjorge Amanda Black Natalia V Bogdanova Bernardo Bonanni Ake Borg James D Brenton Agnieszka Budzilowska Ralf Butzow Saundra S Buys Hui Cai Maria A Caligo Ian Campbell Rikki Cannioto Hayley Cassingham Jenny Chang-Claude Stephen J Chanock Kexin Chen Yoke-Eng Chiew Wendy K Chung Kathleen B M Claes Sarah Colonna Linda S Cook Fergus J Couch Mary B Daly Fanny Dao Eleanor Davies Miguel de la Hoya Robin de Putter Joe Dennis Allison DePersia Peter Devilee Orland Diez Yuan Chun Ding Jennifer A Doherty Susan M Domchek Thilo Dörk Andreas du Bois Matthias Dürst Diana M Eccles Heather A Eliassen Christoph Engel Gareth D Evans Peter A Fasching James M Flanagan Renée T Fortner Eva Machackova Eitan Friedman Patricia A Ganz Judy Garber Francesca Gensini Graham G Giles Gord Glendon Andrew K Godwin Marc T Goodman Mark H Greene Jacek Gronwald Eric Hahnen Christopher A Haiman Niclas Håkansson Ute Hamann Thomas V O Hansen Holly R Harris Mikael Hartman Florian Heitz Michelle A T Hildebrandt Estrid Høgdall Claus K Høgdall John L Hopper Ruea-Yea Huang Chad Huff Peter J Hulick David G Huntsman Evgeny N Imyanitov Claudine Isaacs Anna Jakubowska Paul A James Ramunas Janavicius Allan Jensen Oskar Th Johannsson Esther M John Michael E Jones Daehee Kang Beth Y Karlan Anthony Karnezis Linda E Kelemen Elza Khusnutdinova Lambertus A Kiemeney Byoung-Gie Kim Susanne K Kjaer Ian Komenaka Jolanta Kupryjanczyk Allison W Kurian Ava Kwong Diether Lambrechts Melissa C Larson Conxi Lazaro Nhu D Le Goska Leslie Jenny Lester Fabienne Lesueur Douglas A Levine Lian Li Jingmei Li Jennifer T Loud Karen H Lu Jan Lubiński Phuong L Mai Siranoush Manoukian Jeffrey R Marks Ra University of Cambridge Centre for Cancer Genetic Epidemiology Department of Public Health and Primary Care Cambridge UK. University of Cambridge Centre for Cancer Genetic Epidemiology Department of Oncology Cambridge UK. Center for Bioinformatics and Functional Genomics Cedars-Sinai Medical Center Los Angeles CA USA. Radboud University Medical Center Radboud Institute for Health Sciences Nijmegen The Netherlands. Netherlands Comprehensive Cancer Organisation Utrecht The Netherlands. The Netherlands Cancer Institute-Antoni van Leeuwenhoek hospital Family Cancer Clinic Amsterdam The Netherlands. Veneto Institute of Oncology IOV-IRCCS Immunology and Molecular Oncology Unit Padua Italy. Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital Fred A. Litwin Center for Cancer Genetics Toronto ON Canada. University of Toronto Department of Molecular Genetics Toronto ON Canada. University of California Irvine Department of Epidemiology Genetic Epidemiology Research Institute Irvine CA USA. N.N. Alexandrov Research Institute of Oncology and Medical Radiology Minsk Belarus. 'Agii Anargiri' Cancer Hospital Athens Greece. University of Texas MD Anderson Cancer Center Department of Breast Medical Oncology Houston TX USA. Lund University Department of Cancer Epidemiology Clinical Sciences Lund Sweden. Vall d'Hebron Institute of Oncology Hereditary cancer Genetics Group Barcelona Spain. University Hospital of Vall d'Hebron Department of Medical Oncology Barcelona Spain. Rutgers Cancer Institute of New Jersey Cancer Prevention and Control Program New Brunswick NJ USA. Landspitali University Hospital Department of Pathology Reykjavik Iceland. University of Iceland BMC (Biomedical Centre) Faculty of Medicine Reykjavik Iceland. University Hospital Erlangen Friedrich-Alexander-University Erlangen-Nuremberg Department of Gynecology and Obstetrics Comprehensive Cancer Center ER-EMN Erlangen Germany. Vanderbilt University School of Medicine Division of Epide

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Proceedings of the Frontiers of Retrovirology Conference 2016

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Retrovirology 2016年第1期13卷 1-40页

作者： Irena Zurnic Sylvia Hütter Nicole Stanke Tobias Kern Fabian Lindel Gesche Gerresheim Martin Hamann Erik Müllers Dirk Lindemann Ute Lehmann Juliane Reh Paul Lesbats Peter Cherepanov Melanie Mann Erik Serrao Alan Engelman Claire Da Silva Santos Kevin Tartour Andrea Cimarelli Rya Burdick Jianbo Chen Jaya Sastri Wei-Shau Hu Vinay Pathak Oliver T. Keppler Patrícia de Sousa-Pereira Hanna-Mari Baldauf Marcel Stern Karine Pradeau Sylvia Eiler Nicolas Levy Marc Ruff Sarah Lennon Sarah Cianferani Stéphane Emiliani Vincent Parissi Sylvie Rato Miguel Munoz Angela Ciuffi Antonio Rausell Amalio Telenti Alexander Zhyvoloup Ian Anderson Chen- Hsuin Lee Ariberto Fassati Anat Melamed Delphine Planas Petronela Ancuta Yuwei Zhang Huicheng Chen Annie Bernier Annie Gosselin Janos Kriston-Vizi Robin Ketteler Andy Merritt Charles Bangham Jocelyn Turpin Anthony Rodari Benoit Van Driessche Mathilde Galais Nadége Delacourt Sylvain Fauquenoy Caroline Vanhulle Anna Kula Carine Van Lint Ernst J. Wolvetang Arsène Burny Olivier Rohr Thijs van Montfort Renee van der Sluis Ben Berkhout Dave Speijer Gang Wang Na Zhao Atze T. Das Mirte Scherpenisse Bo Meng Andrzej Rutkowski Lars Dölken Andrew Lever Neil Berry Claire Ham Neil Almond Hoi Ping Mok Nicholas Norton Axel Fun Jack Hirst Mark Wills Chris Hellmund Harriet Groom Thomas Schuster Benedikt Asbach Ralf Wagner Christine Gross Martina Kalmer Andrea K. Thoma-Kress Norbert Donhauser Sebastian Millen Sandra M. Müller-Schmucker Veit Wiesmann Thomas Wittenberg Jan Gettemans Minghua Li Shan-Lu Liu Eric O. Freed Janis Müller Jan Münch Simone Joas Clement Wesley Gnanadurai Edina Lump Christina M. Stürzel Daniel Sauter Frank Kirchhoff Katharina Mack Kathrin Starz Christina Stürzel Xaver Sewald Nasim Motamedi Pradeep Uchil Ruoxi Pi Christin Herrmann Walther Mothes Mark Ladinsky Pamela Bjorkman Jagadish Beloor Priti Kumar Thomas Murooka Thorsten Mempel Michael Brehm Dale Greiner Erica Parrish Nicholas F. Parrish Beatrice H. Hahn Frederic Bibollet-Ruche Ulrike Sauermann Katharina Töpfer Tina Schultheiss Chris Molecular Virology and Gene Therapy Molecular Medicine Leuven Belgium Molecular Virology Technical University Dresden Dresden Germany Center for Regenerative Therapies Dresden Dresden Germany Potsdam University Potsdam Germany The Francis Crick Institute London Great Britain Institute of Clinical and Molecular Virology Friedrich-Alexander-Universität Erlangen-Nuremberg Erlangen Germany Dana Farber Cancer Institute Boston MA United States CIRI Lyon France National Cancer Institute Frederick MD United States Virology Max von Pettenkofer-Institut LMU Munich Munich Germany Institute of Medical Virology University of Frankfurt Frankfurt a. M. Germany German Center for Infection Research Munich Germany Institute of Medical Virology University Hospital Frankfurt Frankfurt a. M. Germany CIBIO/InBIO University of Porto Vairão Portugal Faculty of Sciences University of Porto Porto Portugal Virology Max von Pettenkofer Institute LMU Munich Germany Institute for Medical Virology Frankfurt a. M. Germany Integrative structural Biology IGBMC Illkirch France Institut Pluridisciplinaire Hubert Curien Strasbourg France Institut Cochin Paris France CNRS UMR5234 MFP Lab Bordeaux France Associated International Laboratory (LIA) Microbiology and Immunology CNRS/Université de Bordeaux/Heinrich Pette Institute-Leibniz Institute for Experimental Virology Bordeaux/Hamburg France Institute of Microbiology University Hospital Center and University of Lausanne Lausanne Switzerland Imagine Institute Paris Descartes University Paris France J. Craig Venter Institute La Jolla CA United States Infection University College London London Great Britain Medicine Imperial College London Great Britain Microbiology & Infection University of Montreal Montreal Great Britain CRCHUM Montreal Canada University College London LMCB London Great Britain MRC Technology Centre for Therapeutic Discovery London Great Britain Section of Virology Department of Medicine Imperial Co

Oral presentationsSession 1: Entry & uncoatingO1 Host cell polo-like kinases (PLKs) promote early prototype foamy virus (PFV) replicationIrena Zurnic, Sylvia Hütter, Ute Lehmann, Nicole Stanke, Juliane Re... 详细信息

Oral presentations

Session 1: Entry & uncoating

O1 Host cell polo-like kinases (PLKs) promote early prototype foamy virus (PFV) replication

Irena Zurnic, Sylvia Hütter, Ute Lehmann, Nicole Stanke, Juliane Reh, Tobias Kern, Fabian Lindel, Gesche Gerresheim, Martin Hamann, Erik Müllers, Paul Lesbats, Peter Cherepanov, Erik Serrao, Alan Engelman, Dirk Lindemann

O2 A novel entry/uncoating assay reveals the presence of at least two species of viral capsids during synchronized HIV-1 infection

Claire Da Silva Santos, Kevin Tartour, Andrea Cimarelli

O3 Dynamics of nuclear envelope association and nuclear import of HIV-1 complexes

Rya Burdick, Jianbo Chen, Jaya Sastri, Wei-Shau Hu, Vinay Pathak

O4 Human papillomavirus protein E4 potently enhances the susceptibility to HIV infection

Oliver T. Keppler

Session 2: Reverse transcription & integration

O5 Structure and function of HIV-1 integrase post translational modifications

Karine Pradeau, Sylvia Eiler, Nicolas Levy, Sarah Lennon, Sarah Cianferani, Stéphane Emiliani, Marc Ruff

O6 Regulation of retroviral integration by RNA polymerase II associated factors and chromatin structure

Vincent Parissi

Session 3: Transcription and latency

O7 A novel single-cell analysis pipeline to identify specific biomarkers of HIV permissiveness

Sylvie Rato, Antonio Rausell, Miguel Munoz, Amalio Telenti, Angela Ciuffi

O8 A capsid-dependent integration program linking T cell activation to HIV-1 gene expression

Alexander Zhyvoloup, Anat Melamed, Ian Anderson, Delphine Planas, Janos Kriston-Vizi, Robin Ketteler, Chen-Hsuin Lee, Andy Merritt, Petronela Ancuta, Charles Bangham, Ariberto Fassati

O9 Characterisation of new RNA polymerase III and RNA polymerase II transcriptional promoters in the Bovine Leukemia Virus genome

Anthony Rodari, Benoit Van Driessche, Mathilde Galais, Nadége Delacourt, Sylv

关键词： Human Immunodeficiency Virus Infection Simian Immunodeficiency Virus Feline Immunodeficiency Virus Bovine Leukemia Virus Prototype Foamy Virus

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Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

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Scientific data 2017年第1期4卷 170179页

作者： Jason Flannick Christian Fuchsberger Anubha Mahajan Tanya M Teslovich Vineeta Agarwala Kyle J Gaulton Lizz Caulkins Ryan Koesterer Clement Ma Loukas Moutsianas Davis J McCarthy Manuel A Rivas John R B Perry Xueling Sim Thomas W Blackwell Neil R Robertson N William Rayner Pablo Cingolani Adam E Locke Juan Fernandez Tajes Heather M Highland Josee Dupuis Peter S Chines Cecilia M Lindgren Christopher Hartl Anne U Jackson Han Chen Jeroen R Huyghe Martijn van de Bunt Richard D Pearson Ashish Kumar Martina Müller-Nurasyid Niels Grarup Heather M Stringham Eric R Gamazon Jaehoon Lee Yuhui Chen Robert A Scott Jennifer E Below Peng Chen Jinyan Huang Min Jin Go Michael L Stitzel Dorota Pasko Stephen C J Parker Tibor V Varga Todd Green Nicola L Beer Aaron G Day-Williams Teresa Ferreira Tasha Fingerlin Momoko Horikoshi Cheng Hu Iksoo Huh Mohammad Kamran Ikram Bong-Jo Kim Yongkang Kim Young Jin Kim Min-Seok Kwon Juyoung Lee Selyeong Lee Keng-Han Lin Taylor J Maxwell Yoshihiko Nagai Xu Wang Ryan P Welch Joon Yoon Weihua Zhang Nir Barzilai Benjamin F Voight Bok-Ghee Han Christopher P Jenkinson Teemu Kuulasmaa Johanna Kuusisto Alisa Manning Maggie C Y Ng Nicholette D Palmer Beverley Balkau Alena Stančáková Hanna E Abboud Heiner Boeing Vilmantas Giedraitis Dorairaj Prabhakaran Omri Gottesman James Scott Jason Carey Phoenix Kwan George Grant Joshua D Smith Benjamin M Neale Shaun Purcell Adam S Butterworth Joanna M M Howson Heung Man Lee Yingchang Lu Soo-Heon Kwak Wei Zhao John Danesh Vincent K L Lam Kyong Soo Park Danish Saleheen Wing Yee So Claudia H T Tam Uzma Afzal David Aguilar Rector Arya Tin Aung Edmund Chan Carmen Navarro Ching-Yu Cheng Domenico Palli Adolfo Correa Joanne E Curran Dennis Rybin Vidya S Farook Sharon P Fowler Barry I Freedman Michael Griswold Daniel Esten Hale Pamela J Hicks Chiea-Chuen Khor Satish Kumar Benjamin Lehne Dorothée Thuillier Wei Yen Lim Jianjun Liu Marie Loh Solomon K Musani Sobha Puppala William R Scott Loïc Yengo Sian-Tsung Tan Herman A Taylor Farook Thameem Gregory Wilson Tien Yin Wong Pål Rasmu Department of Molecular Biology Massachusetts General Hospital Boston Massachusetts USA. Program in Medical and Population Genetics Broad Institute Cambridge Massachusetts USA. Department of Biostatistics and Center for Statistical Genetics University of Michigan Ann Arbor Michigan USA. Wellcome Trust Centre for Human Genetics Nuffield Department of Medicine University of Oxford Oxford UK. Harvard-MIT Division of Health Sciences and Technology Massachusetts Institute of Technology Cambridge Massachusetts USA. Department of Statistics University of Oxford Oxford UK. Genetics of Complex Traits University of Exeter Medical School University of Exeter Exeter UK. MRC Epidemiology Unit Institute of Metabolic Science University of Cambridge Cambridge UK. Department of Twin Research and Genetic Epidemiology King's College London London UK. Oxford Centre for Diabetes Endocrinology and Metabolism Radcliffe Department of Medicine University of Oxford Oxford UK. Department of Human Genetics Wellcome Trust Sanger Institute Hinxton Cambridgeshire UK. School of Computer Science McGill University Montreal Quebec Canada. McGill University and Génome Québec Innovation Centre Montreal Quebec Canada. Human Genetics Center The University of Texas Graduate School of Biomedical Sciences at Houston The University of Texas Health Science Center at Houston Houston Texas USA. Department of Biostatistics Boston University School of Public Health Boston Massachusetts USA. National Heart Lung and Blood Institute's Framingham Heart Study Framingham Massachusetts USA. Medical Genomics and Metabolic Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda Maryland USA. Department of Biostatistics Harvard School of Public Health Boston Massachusetts USA. Chronic Disease Epidemiology Swiss Tropical and Public Health Institute University of Basel Basel Switzerland. Institute of Genetic Epidemiology Helmholtz Zentrum München German R

To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (>80% of low-frequency coding variants in ~82 K Europeans via the exome chip, and ~90% of low-frequency non-coding variants in ~44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.

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