Engel, Christoph

[["dc.bibliographiccitation.firstpage","120"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Cell"],["dc.bibliographiccitation.lastpage","131"],["dc.bibliographiccitation.volume","169"],["dc.contributor.author","Engel, Christoph"],["dc.contributor.author","Gubbey, Tobias"],["dc.contributor.author","Neyer, Simon"],["dc.contributor.author","Sainsbury, Sarah"],["dc.contributor.author","Oberthuer, Christiane"],["dc.contributor.author","Baejen, Carlo"],["dc.contributor.author","Bernecky, Carrie"],["dc.contributor.author","Cramer, Patrick"],["dc.date.accessioned","2018-01-09T13:23:49Z"],["dc.date.available","2018-01-09T13:23:49Z"],["dc.date.issued","2017"],["dc.description.abstract","Transcription initiation at the ribosomal RNA promoter requires RNA polymerase (Pol) I and the initiation factors Rrn3 and core factor (CF). Here, we combine X-ray crystallography and cryo-electron microscopy (cryo-EM) to obtain a molecular model for basal Pol I initiation. The three-subunit CF binds upstream promoter DNA, docks to the Pol I-Rrn3 complex, and loads DNA into the expanded active center cleft of the polymerase. DNA unwinding between the Pol I protrusion and clamp domains enables cleft contraction, resulting in an active Pol I conformation and RNA synthesis. Comparison with the Pol II system suggests that promoter specificity relies on a distinct \"bendability\" and \"meltability\" of the promoter sequence that enables contacts between initiation factors, DNA, and polymerase."],["dc.identifier.doi","10.1016/j.cell.2017.03.003"],["dc.identifier.pmid","28340337"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/11592"],["dc.language.iso","en"],["dc.notes.status","final"],["dc.relation.eissn","1097-4172"],["dc.title","Structural Basis of RNA Polymerase I Transcription Initiation"],["dc.type","journal_article"],["dc.type.internalPublication","unknown"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","6707"],["dc.bibliographiccitation.journal","Nature Communications"],["dc.bibliographiccitation.volume","6"],["dc.contributor.author","Lange, Markus"],["dc.contributor.author","Eisenhauer, Nico"],["dc.contributor.author","Sierra, Carlos A."],["dc.contributor.author","Bessler, Holger"],["dc.contributor.author","Engels, Christoph"],["dc.contributor.author","Griffiths, Robert I."],["dc.contributor.author","Mellado-Vazquez, Perla G."],["dc.contributor.author","Malik, Ashish A."],["dc.contributor.author","Roy, Jacques"],["dc.contributor.author","Scheu, Stefan"],["dc.contributor.author","Steinbeiss, Sibylle"],["dc.contributor.author","Thomson, Bruce C."],["dc.contributor.author","Trumbore, Susan E."],["dc.contributor.author","Gleixner, Gerd"],["dc.date.accessioned","2018-11-07T09:58:55Z"],["dc.date.available","2018-11-07T09:58:55Z"],["dc.date.issued","2015"],["dc.description.abstract","Plant diversity strongly influences ecosystem functions and services, such as soil carbon storage. However, the mechanisms underlying the positive plant diversity effects on soil carbon storage are poorly understood. We explored this relationship using long-term data from a grassland biodiversity experiment (The Jena Experiment) and radiocarbon (C-14) modelling. Here we show that higher plant diversity increases rhizosphere carbon inputs into the microbial community resulting in both increased microbial activity and carbon storage. Increases in soil carbon were related to the enhanced accumulation of recently fixed carbon in high-diversity plots, while plant diversity had less pronounced effects on the decomposition rate of existing carbon. The present study shows that elevated carbon storage at high plant diversity is a direct function of the soil microbial community, indicating that the increase in carbon storage is mainly limited by the integration of new carbon into soil and less by the decomposition of existing soil carbon."],["dc.identifier.doi","10.1038/ncomms7707"],["dc.identifier.isi","000353700200002"],["dc.identifier.pmid","25848862"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/37472"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Nature Publishing Group"],["dc.relation.issn","2041-1723"],["dc.title","Plant diversity increases soil microbial activity and soil carbon storage"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.journal","Intensive Care Medicine"],["dc.bibliographiccitation.volume","39"],["dc.contributor.author","Schaedler, D."],["dc.contributor.author","Porzilius, C."],["dc.contributor.author","Brederlau, J."],["dc.contributor.author","Joerres, A."],["dc.contributor.author","Marx, G."],["dc.contributor.author","Meier-Hellmann, Andreas"],["dc.contributor.author","Putensen, Christian"],["dc.contributor.author","Quintel, M."],["dc.contributor.author","Spies, C. D."],["dc.contributor.author","Engel, C."],["dc.contributor.author","Kellurn, J."],["dc.contributor.author","Weiler, Norbert"],["dc.contributor.author","Kuhlmann, M. K."],["dc.date.accessioned","2018-11-07T09:19:39Z"],["dc.date.available","2018-11-07T09:19:39Z"],["dc.date.issued","2013"],["dc.identifier.isi","000342431600016"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/28689"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Springer"],["dc.publisher.place","New york"],["dc.relation.conference","ESICM 26th Annual Congress"],["dc.relation.eventlocation","Paris, FRANCE"],["dc.title","EXTRACORPOREAL CYTOKINE HEMOADSORPTION IN SEVERELY SEPTIC PATIENTS: A MULTICENTER RANDOMIZED CONTROLLED TRIAL"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.issue","14"],["dc.bibliographiccitation.journal","Cancers"],["dc.bibliographiccitation.volume","14"],["dc.contributor.affiliation","Dumont, Martine; 1Genomics Center, CHU de Québec-Université Laval Research Center, 2705 Laurier Boulevard, Quebec City, QC GIV 4G2, Canada; martine.dumont@crchudequebec.ulaval.ca (M.D.); charles.joly-beauparlant@crchudequebec.ulaval.ca (C.J.-B.); arnaud.droit@crchudequebec.ulaval.ca (A.D.); stephane.dubois@crchudequebec.ulaval.ca (S.D.); annie-c.c-deschesnes@crchudequebec.ulaval.ca (A.-C.C.-D.); penny.soucy@crchudequebec.ulaval.ca (P.S.); maxime.vallee@chu-lyon.fr (M.V.); frederic.fournier.4@ulaval.ca (F.F.); audrey@mims.ai (A.L.)"],["dc.contributor.affiliation","Weber-Lassalle, Nana; 2Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany; nana.weber-lassalle@uk-koeln.de (N.W.-L.); corinna.ernst@uk-koeln.de (C.E.); rita.schmutzler@uk-koeln.de (R.K.S.); eric.hahnen@uk-koeln.de (E.H.)"],["dc.contributor.affiliation","Joly-Beauparlant, Charles; 1Genomics Center, CHU de Québec-Université Laval Research Center, 2705 Laurier Boulevard, Quebec City, QC GIV 4G2, Canada; martine.dumont@crchudequebec.ulaval.ca (M.D.); charles.joly-beauparlant@crchudequebec.ulaval.ca (C.J.-B.); arnaud.droit@crchudequebec.ulaval.ca (A.D.); stephane.dubois@crchudequebec.ulaval.ca (S.D.); annie-c.c-deschesnes@crchudequebec.ulaval.ca (A.-C.C.-D.); penny.soucy@crchudequebec.ulaval.ca (P.S.); maxime.vallee@chu-lyon.fr (M.V.); frederic.fournier.4@ulaval.ca (F.F.); audrey@mims.ai (A.L.)"],["dc.contributor.affiliation","Ernst, Corinna; 2Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany; nana.weber-lassalle@uk-koeln.de (N.W.-L.); corinna.ernst@uk-koeln.de (C.E.); rita.schmutzler@uk-koeln.de (R.K.S.); eric.hahnen@uk-koeln.de (E.H.)"],["dc.contributor.affiliation","Droit, Arnaud; 1Genomics Center, CHU de Québec-Université Laval Research Center, 2705 Laurier Boulevard, Quebec City, QC GIV 4G2, Canada; martine.dumont@crchudequebec.ulaval.ca (M.D.); charles.joly-beauparlant@crchudequebec.ulaval.ca (C.J.-B.); arnaud.droit@crchudequebec.ulaval.ca (A.D.); stephane.dubois@crchudequebec.ulaval.ca (S.D.); annie-c.c-deschesnes@crchudequebec.ulaval.ca (A.-C.C.-D.); penny.soucy@crchudequebec.ulaval.ca (P.S.); maxime.vallee@chu-lyon.fr (M.V.); frederic.fournier.4@ulaval.ca (F.F.); audrey@mims.ai (A.L.)"],["dc.contributor.affiliation","Feng, Bing-Jian; 3Department of Dermatology, University of Utah, Salt Lake City, UT 84103, USA; bingjian.feng@hsc.utah.edu (B.-J.F.); david.goldgar@hsc.utah.edu (D.E.G.)"],["dc.contributor.affiliation","Dubois, Stéphane; 1Genomics Center, CHU de Québec-Université Laval Research Center, 2705 Laurier Boulevard, Quebec City, QC GIV 4G2, Canada; martine.dumont@crchudequebec.ulaval.ca (M.D.); charles.joly-beauparlant@crchudequebec.ulaval.ca (C.J.-B.); arnaud.droit@crchudequebec.ulaval.ca (A.D.); stephane.dubois@crchudequebec.ulaval.ca (S.D.); annie-c.c-deschesnes@crchudequebec.ulaval.ca (A.-C.C.-D.); penny.soucy@crchudequebec.ulaval.ca (P.S.); maxime.vallee@chu-lyon.fr (M.V.); frederic.fournier.4@ulaval.ca (F.F.); audrey@mims.ai (A.L.)"],["dc.contributor.affiliation","Collin-Deschesnes, Annie-Claude; 1Genomics Center, CHU de Québec-Université Laval Research Center, 2705 Laurier Boulevard, Quebec City, QC GIV 4G2, Canada; martine.dumont@crchudequebec.ulaval.ca (M.D.); charles.joly-beauparlant@crchudequebec.ulaval.ca (C.J.-B.); arnaud.droit@crchudequebec.ulaval.ca (A.D.); stephane.dubois@crchudequebec.ulaval.ca (S.D.); annie-c.c-deschesnes@crchudequebec.ulaval.ca (A.-C.C.-D.); penny.soucy@crchudequebec.ulaval.ca (P.S.); maxime.vallee@chu-lyon.fr (M.V.); frederic.fournier.4@ulaval.ca (F.F.); audrey@mims.ai (A.L.)"],["dc.contributor.affiliation","Soucy, Penny; 1Genomics Center, CHU de Québec-Université Laval Research Center, 2705 Laurier Boulevard, Quebec City, QC GIV 4G2, Canada; martine.dumont@crchudequebec.ulaval.ca (M.D.); charles.joly-beauparlant@crchudequebec.ulaval.ca (C.J.-B.); arnaud.droit@crchudequebec.ulaval.ca (A.D.); stephane.dubois@crchudequebec.ulaval.ca (S.D.); annie-c.c-deschesnes@crchudequebec.ulaval.ca (A.-C.C.-D.); penny.soucy@crchudequebec.ulaval.ca (P.S.); maxime.vallee@chu-lyon.fr (M.V.); frederic.fournier.4@ulaval.ca (F.F.); audrey@mims.ai (A.L.)"],["dc.contributor.affiliation","Vallée, Maxime; 1Genomics Center, CHU de Québec-Université Laval Research Center, 2705 Laurier Boulevard, Quebec City, QC GIV 4G2, Canada; martine.dumont@crchudequebec.ulaval.ca (M.D.); charles.joly-beauparlant@crchudequebec.ulaval.ca (C.J.-B.); arnaud.droit@crchudequebec.ulaval.ca (A.D.); stephane.dubois@crchudequebec.ulaval.ca (S.D.); annie-c.c-deschesnes@crchudequebec.ulaval.ca (A.-C.C.-D.); penny.soucy@crchudequebec.ulaval.ca (P.S.); maxime.vallee@chu-lyon.fr (M.V.); frederic.fournier.4@ulaval.ca (F.F.); audrey@mims.ai (A.L.)"],["dc.contributor.affiliation","Fournier, Frédéric; 1Genomics Center, CHU de Québec-Université Laval Research Center, 2705 Laurier Boulevard, Quebec City, QC GIV 4G2, Canada; martine.dumont@crchudequebec.ulaval.ca (M.D.); charles.joly-beauparlant@crchudequebec.ulaval.ca (C.J.-B.); arnaud.droit@crchudequebec.ulaval.ca (A.D.); stephane.dubois@crchudequebec.ulaval.ca (S.D.); annie-c.c-deschesnes@crchudequebec.ulaval.ca (A.-C.C.-D.); penny.soucy@crchudequebec.ulaval.ca (P.S.); maxime.vallee@chu-lyon.fr (M.V.); frederic.fournier.4@ulaval.ca (F.F.); audrey@mims.ai (A.L.)"],["dc.contributor.affiliation","Lemaçon, Audrey; 1Genomics Center, CHU de Québec-Université Laval Research Center, 2705 Laurier Boulevard, Quebec City, QC GIV 4G2, Canada; martine.dumont@crchudequebec.ulaval.ca (M.D.); charles.joly-beauparlant@crchudequebec.ulaval.ca (C.J.-B.); arnaud.droit@crchudequebec.ulaval.ca (A.D.); stephane.dubois@crchudequebec.ulaval.ca (S.D.); annie-c.c-deschesnes@crchudequebec.ulaval.ca (A.-C.C.-D.); penny.soucy@crchudequebec.ulaval.ca (P.S.); maxime.vallee@chu-lyon.fr (M.V.); frederic.fournier.4@ulaval.ca (F.F.); audrey@mims.ai (A.L.)"],["dc.contributor.affiliation","Adank, Muriel A.; 5Family Cancer Clinic, The Netherlands Cancer Institute—Antoni van Leeuwenhoek Hospital, 1066 Amsterdam, The Netherlands; m.adank@nki.nl (M.A.A.); f.hogervorst@nki.nl (F.B.L.H.); l.vd.kolk@nki.nl (L.v.d.K.)"],["dc.contributor.affiliation","Allen, Jamie; 6Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK; jma@ebi.ac.uk (J.A.); mkh39@medschl.cam.ac.uk (M.K.B.); sc2017@medschl.cam.ac.uk (S.C.); paul.pharoah@medschl.cam.ac.uk (P.D.P.P.); qw232@medschl.cam.ac.uk (Q.W.); dfe20@medschl.cam.ac.uk (D.F.E.)"],["dc.contributor.affiliation","Altmüller, Janine; 7Cologne Center for Genomics (CCG), Faculty of Medicine, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany; janine.altmueller@mdc-berlin.de (J.A.); holger.thiele@uni-koeln.de (H.T.)"],["dc.contributor.affiliation","Arnold, Norbert; 8Institute of Clinical Molecular Biology, Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, 24105 Kiel, Germany; norbert.arnold@uksh.de"],["dc.contributor.affiliation","Ausems, Margreet G. E. M.; 9Division Laboratories, Pharmacy and Biomedical Genetics, Department of Genetics, University Medical Center Utrecht, 3584 Utrecht, The Netherlands; m.g.e.m.ausems@umcutrecht.nl"],["dc.contributor.affiliation","Berutti, Riccardo; 10Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; riccardo.berutti@helmholtz-muenchen.de (R.B.); tim.strom@tum.de (T.M.S.)"],["dc.contributor.affiliation","Bolla, Manjeet K.; 6Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK; jma@ebi.ac.uk (J.A.); mkh39@medschl.cam.ac.uk (M.K.B.); sc2017@medschl.cam.ac.uk (S.C.); paul.pharoah@medschl.cam.ac.uk (P.D.P.P.); qw232@medschl.cam.ac.uk (Q.W.); dfe20@medschl.cam.ac.uk (D.F.E.)"],["dc.contributor.affiliation","Bull, Shelley; 11Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, ON M5G 1X5, Canada; bull@lunenfeld.ca (S.B.); jessica.green@sinaihealth.ca (J.G.); gary.bader@utoronto.ca (G.D.B.); andrulis@lunenfeld.ca (I.L.A.)"],["dc.contributor.affiliation","Carvalho, Sara; 6Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK; jma@ebi.ac.uk (J.A.); mkh39@medschl.cam.ac.uk (M.K.B.); sc2017@medschl.cam.ac.uk (S.C.); paul.pharoah@medschl.cam.ac.uk (P.D.P.P.); qw232@medschl.cam.ac.uk (Q.W.); dfe20@medschl.cam.ac.uk (D.F.E.)"],["dc.contributor.affiliation","Cornelissen, Sten; 13Division of Molecular Pathology, The Netherlands Cancer Institute—Antoni van Leeuwenhoek Hospital, 1066 Amsterdam, The Netherlands; s.cornelissen@nki.nl (S.C.); r.keeman@nki.nl (R.K.); mk.schmidt@nki.nl (M.K.S.)"],["dc.contributor.affiliation","Dufault, Michael R.; 14Precision Medicine and Computational Biology, Sanofi Genzyme, Cambridge, MA 02142, USA; michael.dufault@sanofi.com"],["dc.contributor.affiliation","Dunning, Alison M.; 15Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK; amd24@medschl.cam.ac.uk (A.M.D.); craig@srl.cam.ac.uk (C.L.); ms483@medschl.cam.ac.uk (M.S.)"],["dc.contributor.affiliation","Engel, Christoph; 16Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, 04107 Leipzig, Germany; christoph.engel@imise.uni-leipzig.de"],["dc.contributor.affiliation","Gehrig, Andrea; 17Centre of Familial Breast and Ovarian Cancer, Department of Medical Genetics, Institute of Human Genetics, University of Würzburg, 97074 Würzburg, Germany; gehrig@biozentrum.uni-wuerzburg.de"],["dc.contributor.affiliation","Geurts-Giele, Willemina R. R.; 18Department of Clinical Genetics, Erasmus University Medical Center, 3015 Rotterdam, The Netherlands; w.geurts-giele@erasmusmc.nl"],["dc.contributor.affiliation","Gieger, Christian; 19Institute of Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany; christian.gieger@helmholtz-muenchen.de (C.G.); peters@helmholtz-muenchen.de (A.P.)"],["dc.contributor.affiliation","Green, Jessica; 11Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, ON M5G 1X5, Canada; bull@lunenfeld.ca (S.B.); jessica.green@sinaihealth.ca (J.G.); gary.bader@utoronto.ca (G.D.B.); andrulis@lunenfeld.ca (I.L.A.)"],["dc.contributor.affiliation","Hackmann, Karl; 22Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany; karl.hackmann@uniklinikum-dresden.de"],["dc.contributor.affiliation","Helmy, Mohamed; 23The Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada; mohamed_helmy@bii.a-star.edu.sg"],["dc.contributor.affiliation","Hentschel, Julia; 26Institute of Human Genetics, University Leipzig, 04103 Leipzig, Germany; julia.hentschel@medizin.uni-leipzig.de"],["dc.contributor.affiliation","Hogervorst, Frans B. L.; 5Family Cancer Clinic, The Netherlands Cancer Institute—Antoni van Leeuwenhoek Hospital, 1066 Amsterdam, The Netherlands; m.adank@nki.nl (M.A.A.); f.hogervorst@nki.nl (F.B.L.H.); l.vd.kolk@nki.nl (L.v.d.K.)"],["dc.contributor.affiliation","Hollestelle, Antoinette; 27Department of Medical Oncology, Erasmus MC Cancer Institute, 3015 Rotterdam, The Netherlands; a.hollestelle@erasmusmc.nl (A.H.); m.hooning@erasmusmc.nl (M.J.H.); j.martens@erasmusmc.nl (J.W.M.M.)"],["dc.contributor.affiliation","Hooning, Maartje J.; 27Department of Medical Oncology, Erasmus MC Cancer Institute, 3015 Rotterdam, The Netherlands; a.hollestelle@erasmusmc.nl (A.H.); m.hooning@erasmusmc.nl (M.J.H.); j.martens@erasmusmc.nl (J.W.M.M.)"],["dc.contributor.affiliation","Horváth, Judit; 28Institute of Human Genetics, University of Münster, 48149 Münster, Germany; judit.horvath@ukmuenster.de"],["dc.contributor.affiliation","Ikram, M. Arfan; 29Department of Epidemiology, Erasmus MC University Medical Center, 3015 Rotterdam, The Netherlands; m.a.ikram@erasmusmc.nl"],["dc.contributor.affiliation","Kaulfuß, Silke; 30Institute of Human Genetics, University Medical Center Göttingen, 37075 Göttingen, Germany; silke.kaulfuss@med.uni-goettingen.de"],["dc.contributor.affiliation","Keeman, Renske; 13Division of Molecular Pathology, The Netherlands Cancer Institute—Antoni van Leeuwenhoek Hospital, 1066 Amsterdam, The Netherlands; s.cornelissen@nki.nl (S.C.); r.keeman@nki.nl (R.K.); mk.schmidt@nki.nl (M.K.S.)"],["dc.contributor.affiliation","Kuang, Da; 21Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; kvn.kuang@mail.utoronto.ca"],["dc.contributor.affiliation","Luccarini, Craig; 15Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK; amd24@medschl.cam.ac.uk (A.M.D.); craig@srl.cam.ac.uk (C.L.); ms483@medschl.cam.ac.uk (M.S.)"],["dc.contributor.affiliation","Maier, Wolfgang; 31German Center for Neurodegenerative Diseases (DZNE), Department of Neurodegenerative Diseases and Geriatric Psychiatry, Medical Faculty, University Hospital Bonn, 53127 Bonn, Germany; wolfgang.maier@ukb.uni-bonn.de"],["dc.contributor.affiliation","Martens, John W. M.; 27Department of Medical Oncology, Erasmus MC Cancer Institute, 3015 Rotterdam, The Netherlands; a.hollestelle@erasmusmc.nl (A.H.); m.hooning@erasmusmc.nl (M.J.H.); j.martens@erasmusmc.nl (J.W.M.M.)"],["dc.contributor.affiliation","Niederacher, Dieter; 32Department of Gynecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, 40225 Düsseldorf, Germany; niederac@med.uni-duesseldorf.de"],["dc.contributor.affiliation","Nürnberg, Peter; 33Center for Molecular Medicine Cologne (CMMC), Cologne Center for Genomics (CCG), Faculty of Medicine, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany; nuernberg@uni-koeln.de"],["dc.contributor.affiliation","Ott, Claus-Eric; 34Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, 13353 Berlin, Germany; claus-eric.ott@charite.de"],["dc.contributor.affiliation","Peters, Annette; 19Institute of Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany; christian.gieger@helmholtz-muenchen.de (C.G.); peters@helmholtz-muenchen.de (A.P.)"],["dc.contributor.affiliation","Pharoah, Paul D. P.; 6Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK; jma@ebi.ac.uk (J.A.); mkh39@medschl.cam.ac.uk (M.K.B.); sc2017@medschl.cam.ac.uk (S.C.); paul.pharoah@medschl.cam.ac.uk (P.D.P.P.); qw232@medschl.cam.ac.uk (Q.W.); dfe20@medschl.cam.ac.uk (D.F.E.)"],["dc.contributor.affiliation","Ramirez, Alfredo; 36Division for Neurogenetics and Molecular Psychiatry, Medical Faculty, University of Cologne, 50937 Cologne, Germany; alfredo.ramirez@uk-koeln.de"],["dc.contributor.affiliation","Ramser, Juliane; 37Division of Gynaecology and Obstetrics, Klinikum Rechts der Isar der Technischen Universität München, 81675 Munich, Germany; juliane.ramser@mri.tum.de (J.R.); alfons.meindl@gmx.de (A.M.)"],["dc.contributor.affiliation","Riedel-Heller, Steffi; 38Institute of Social Medicine, Occupational Health and Public Health, Faculty of Medicine, University of Leipzig, 04103 Leipzig, Germany; steffi.riedel-heller@medizin.uni-leipzig.de"],["dc.contributor.affiliation","Schmidt, Gunnar; 39Institute of Human Genetics, Hannover Medical School, 30625 Hannover, Germany; schmidt.gunnar@mh-hannover.de"],["dc.contributor.affiliation","Shah, Mitul; 15Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK; amd24@medschl.cam.ac.uk (A.M.D.); craig@srl.cam.ac.uk (C.L.); ms483@medschl.cam.ac.uk (M.S.)"],["dc.contributor.affiliation","Scherer, Martin; 40Department of Primary Medical Care, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; m.scherer@uke.de"],["dc.contributor.affiliation","Stäbler, Antje; 41Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany; antje.staebler@med.uni-tuebingen.de"],["dc.contributor.affiliation","Strom, Tim M.; 10Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; riccardo.berutti@helmholtz-muenchen.de (R.B.); tim.strom@tum.de (T.M.S.)"],["dc.contributor.affiliation","Sutter, Christian; 42Institute of Human Genetics, University Hospital Heidelberg, 69120 Heidelberg, Germany; christian.sutter@med.uni-heidelberg.de"],["dc.contributor.affiliation","Thiele, Holger; 7Cologne Center for Genomics (CCG), Faculty of Medicine, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany; janine.altmueller@mdc-berlin.de (J.A.); holger.thiele@uni-koeln.de (H.T.)"],["dc.contributor.affiliation","van Asperen, Christi J.; 43Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, The Netherlands; c.j.van_asperen@lumc.nl (C.J.v.A.); r.b.van_der_luijt@lumc.nl (R.B.v.d.L.)"],["dc.contributor.affiliation","van der Kolk, Lizet; 5Family Cancer Clinic, The Netherlands Cancer Institute—Antoni van Leeuwenhoek Hospital, 1066 Amsterdam, The Netherlands; m.adank@nki.nl (M.A.A.); f.hogervorst@nki.nl (F.B.L.H.); l.vd.kolk@nki.nl (L.v.d.K.)"],["dc.contributor.affiliation","van der Luijt, Rob B.; 43Department of Clinical Genetics, Leiden University Medical Center, 2333 Leiden, The Netherlands; c.j.van_asperen@lumc.nl (C.J.v.A.); r.b.van_der_luijt@lumc.nl (R.B.v.d.L.)"],["dc.contributor.affiliation","Volk, Alexander E.; 45Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany; a.volk@uke.de"],["dc.contributor.affiliation","Wagner, Michael; 46Department of Neurodegenerative Diseases and Geriatric Psychiatry, University Hospital Bonn, 53127 Bonn, Germany; michael.wagner@ukbonn.de"],["dc.contributor.affiliation","Waisfisz, Quinten; 47Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, 1081 Amsterdam, The Netherlands; q.waisfisz@vumc.nl"],["dc.contributor.affiliation","Wang, Qin; 6Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK; jma@ebi.ac.uk (J.A.); mkh39@medschl.cam.ac.uk (M.K.B.); sc2017@medschl.cam.ac.uk (S.C.); paul.pharoah@medschl.cam.ac.uk (P.D.P.P.); qw232@medschl.cam.ac.uk (Q.W.); dfe20@medschl.cam.ac.uk (D.F.E.)"],["dc.contributor.affiliation","Wang-Gohrke, Shan; 48Department of Gynaecology and Obstetrics, University of Ulm, 89081 Ulm, Germany; shan.wang-gohrke@uniklinik-ulm.de"],["dc.contributor.affiliation","Weber, Bernhard H. F.; 49Institute of Human Genetics, Regensburg University, 93053 Regensburg, Germany; bweb@klinik.uni-regensburg.de"],["dc.contributor.affiliation","Devilee, Peter; 51Department of Pathology, Department of Human Genetics, Leiden University Medical Center, 2333 Leiden, The Netherlands; p.devilee@lumc.nl"],["dc.contributor.affiliation","Tavtigian, Sean; 4Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA; sean.tavtigian@hci.utah.edu"],["dc.contributor.affiliation","Bader, Gary D.; 11Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, ON M5G 1X5, Canada; bull@lunenfeld.ca (S.B.); jessica.green@sinaihealth.ca (J.G.); gary.bader@utoronto.ca (G.D.B.); andrulis@lunenfeld.ca (I.L.A.)"],["dc.contributor.affiliation","Meindl, Alfons; 37Division of Gynaecology and Obstetrics, Klinikum Rechts der Isar der Technischen Universität München, 81675 Munich, Germany; juliane.ramser@mri.tum.de (J.R.); alfons.meindl@gmx.de (A.M.)"],["dc.contributor.affiliation","Goldgar, David E.; 3Department of Dermatology, University of Utah, Salt Lake City, UT 84103, USA; bingjian.feng@hsc.utah.edu (B.-J.F.); david.goldgar@hsc.utah.edu (D.E.G.)"],["dc.contributor.affiliation","Andrulis, Irene L.; 11Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, ON M5G 1X5, Canada; bull@lunenfeld.ca (S.B.); jessica.green@sinaihealth.ca (J.G.); gary.bader@utoronto.ca (G.D.B.); andrulis@lunenfeld.ca (I.L.A.)"],["dc.contributor.affiliation","Schmutzler, Rita K.; 2Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany; nana.weber-lassalle@uk-koeln.de (N.W.-L.); corinna.ernst@uk-koeln.de (C.E.); rita.schmutzler@uk-koeln.de (R.K.S.); eric.hahnen@uk-koeln.de (E.H.)"],["dc.contributor.affiliation","Easton, Douglas F.; 6Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK; jma@ebi.ac.uk (J.A.); mkh39@medschl.cam.ac.uk (M.K.B.); sc2017@medschl.cam.ac.uk (S.C.); paul.pharoah@medschl.cam.ac.uk (P.D.P.P.); qw232@medschl.cam.ac.uk (Q.W.); dfe20@medschl.cam.ac.uk (D.F.E.)"],["dc.contributor.affiliation","Schmidt, Marjanka K.; 13Division of Molecular Pathology, The Netherlands Cancer Institute—Antoni van Leeuwenhoek Hospital, 1066 Amsterdam, The Netherlands; s.cornelissen@nki.nl (S.C.); r.keeman@nki.nl (R.K.); mk.schmidt@nki.nl (M.K.S.)"],["dc.contributor.affiliation","Hahnen, Eric; 2Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany; nana.weber-lassalle@uk-koeln.de (N.W.-L.); corinna.ernst@uk-koeln.de (C.E.); rita.schmutzler@uk-koeln.de (R.K.S.); eric.hahnen@uk-koeln.de (E.H.)"],["dc.contributor.affiliation","Simard, Jacques; 1Genomics Center, CHU de Québec-Université Laval Research Center, 2705 Laurier Boulevard, Quebec City, QC GIV 4G2, Canada; martine.dumont@crchudequebec.ulaval.ca (M.D.); charles.joly-beauparlant@crchudequebec.ulaval.ca (C.J.-B.); arnaud.droit@crchudequebec.ulaval.ca (A.D.); stephane.dubois@crchudequebec.ulaval.ca (S.D.); annie-c.c-deschesnes@crchudequebec.ulaval.ca (A.-C.C.-D.); penny.soucy@crchudequebec.ulaval.ca (P.S.); maxime.vallee@chu-lyon.fr (M.V.); frederic.fournier.4@ulaval.ca (F.F.); audrey@mims.ai (A.L.)"],["dc.contributor.author","Dumont, Martine"],["dc.contributor.author","Weber-Lassalle, Nana"],["dc.contributor.author","Joly-Beauparlant, Charles"],["dc.contributor.author","Ernst, Corinna"],["dc.contributor.author","Droit, Arnaud"],["dc.contributor.author","Feng, Bing-Jian"],["dc.contributor.author","Dubois, Stéphane"],["dc.contributor.author","Collin-Deschesnes, Annie-Claude"],["dc.contributor.author","Soucy, Penny"],["dc.contributor.author","Vallée, Maxime"],["dc.contributor.author","Fournier, Frédéric"],["dc.contributor.author","Lemaçon, Audrey"],["dc.contributor.author","Adank, Muriel A."],["dc.contributor.author","Allen, Jamie"],["dc.contributor.author","Altmüller, Janine"],["dc.contributor.author","Arnold, Norbert"],["dc.contributor.author","Ausems, Margreet G. E. M."],["dc.contributor.author","Berutti, Riccardo"],["dc.contributor.author","Bolla, Manjeet K."],["dc.contributor.author","Bull, Shelley"],["dc.contributor.author","Carvalho, Sara"],["dc.contributor.author","Cornelissen, Sten"],["dc.contributor.author","Dufault, Michael R."],["dc.contributor.author","Dunning, Alison M."],["dc.contributor.author","Engel, Christoph"],["dc.contributor.author","Gehrig, Andrea"],["dc.contributor.author","Geurts-Giele, Willemina R. R."],["dc.contributor.author","Gieger, Christian"],["dc.contributor.author","Green, Jessica"],["dc.contributor.author","Hackmann, Karl"],["dc.contributor.author","Helmy, Mohamed"],["dc.contributor.author","Hentschel, Julia"],["dc.contributor.author","Hogervorst, Frans B. L."],["dc.contributor.author","Hollestelle, Antoinette"],["dc.contributor.author","Hooning, Maartje J."],["dc.contributor.author","Horváth, Judit"],["dc.contributor.author","Ikram, M. Arfan"],["dc.contributor.author","Kaulfuß, Silke"],["dc.contributor.author","Keeman, Renske"],["dc.contributor.author","Kuang, Da"],["dc.contributor.author","Luccarini, Craig"],["dc.contributor.author","Maier, Wolfgang"],["dc.contributor.author","Martens, John W. M."],["dc.contributor.author","Niederacher, Dieter"],["dc.contributor.author","Nürnberg, Peter"],["dc.contributor.author","Ott, Claus-Eric"],["dc.contributor.author","Peters, Annette"],["dc.contributor.author","Pharoah, Paul D. P."],["dc.contributor.author","Ramirez, Alfredo"],["dc.contributor.author","Ramser, Juliane"],["dc.contributor.author","Riedel-Heller, Steffi"],["dc.contributor.author","Schmidt, Gunnar"],["dc.contributor.author","Shah, Mitul"],["dc.contributor.author","Scherer, Martin"],["dc.contributor.author","Stäbler, Antje"],["dc.contributor.author","Strom, Tim M."],["dc.contributor.author","Sutter, Christian"],["dc.contributor.author","Thiele, Holger"],["dc.contributor.author","van Asperen, Christi J."],["dc.contributor.author","van der Kolk, Lizet"],["dc.contributor.author","van der Luijt, Rob B."],["dc.contributor.author","Volk, Alexander E."],["dc.contributor.author","Wagner, Michael"],["dc.contributor.author","Waisfisz, Quinten"],["dc.contributor.author","Wang, Qin"],["dc.contributor.author","Wang-Gohrke, Shan"],["dc.contributor.author","Weber, Bernhard H. F."],["dc.contributor.author","Devilee, Peter"],["dc.contributor.author","Tavtigian, Sean"],["dc.contributor.author","Bader, Gary D."],["dc.contributor.author","Meindl, Alfons"],["dc.contributor.author","Goldgar, David E."],["dc.contributor.author","Andrulis, Irene L."],["dc.contributor.author","Schmutzler, Rita K."],["dc.contributor.author","Easton, Douglas F."],["dc.contributor.author","Schmidt, Marjanka K."],["dc.contributor.author","Hahnen, Eric"],["dc.contributor.author","Simard, Jacques"],["dc.date.accessioned","2022-08-04T08:22:05Z"],["dc.date.available","2022-08-04T08:22:05Z"],["dc.date.issued","2022-07-11"],["dc.date.updated","2022-08-03T11:52:48Z"],["dc.description.abstract","Genetic variants explaining approximately 40% of familial breast cancer risk have been identified, thus leaving a significant fraction of the heritability of this disease still unexplained. The exact nature of this missing fraction is unknown; more extensive sequencing efforts could potentially identify new moderate-penetrance breast cancer risk alleles. The aim of this study was to perform a large-scale whole-exome sequencing study, followed by a targeted validation, in breast cancer patients and healthy women of European descent. We identified 20 novel genes with modest evidence of association (p-value < 0.05) for either overall or subtype-specific breast cancer; however, much larger studies are needed to confirm the exact role of these genes in susceptibility to breast cancer.\r\n \r\n \r\n Abstract\r\n Rare variants in at least 10 genes, including BRCA1, BRCA2, PALB2, ATM, and CHEK2, are associated with increased risk of breast cancer; however, these variants, in combination with common variants identified through genome-wide association studies, explain only a fraction of the familial aggregation of the disease. To identify further susceptibility genes, we performed a two-stage whole-exome sequencing study. In the discovery stage, samples from 1528 breast cancer cases enriched for breast cancer susceptibility and 3733 geographically matched unaffected controls were sequenced. Using five different filtering and gene prioritization strategies, 198 genes were selected for further validation. These genes, and a panel of 32 known or suspected breast cancer susceptibility genes, were assessed in a validation set of 6211 cases and 6019 controls for their association with risk of breast cancer overall, and by estrogen receptor (ER) disease subtypes, using gene burden tests applied to loss-of-function and rare missense variants. Twenty genes showed nominal evidence of association (p-value < 0.05) with either overall or subtype-specific breast cancer. Our study had the statistical power to detect susceptibility genes with effect sizes similar to ATM, CHEK2, and PALB2, however, it was underpowered to identify genes in which susceptibility variants are rarer or confer smaller effect sizes. Larger sample sizes would be required in order to identify such genes."],["dc.description.sponsorship","Genome Canada"],["dc.description.sponsorship","Canadian Institutes of Health Research"],["dc.description.sponsorship","Genome Quebec"],["dc.description.sponsorship","Quebec Breast Cancer Foundation"],["dc.description.sponsorship","Ministère de l’Économie, de la Science et de l’Innovation du Québec"],["dc.description.sponsorship","U.S. National Institutes of Health, National Center for Research Resources"],["dc.identifier.doi","10.3390/cancers14143363"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/112620"],["dc.language.iso","en"],["dc.relation.eissn","2072-6694"],["dc.rights","CC BY 4.0"],["dc.title","Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.subtype","original_ja"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","55"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Breast Cancer Research"],["dc.bibliographiccitation.volume","21"],["dc.contributor.author","Weber-Lassalle, Nana"],["dc.contributor.author","Borde, Julika"],["dc.contributor.author","Weber-Lassalle, Konstantin"],["dc.contributor.author","Horváth, Judit"],["dc.contributor.author","Niederacher, Dieter"],["dc.contributor.author","Arnold, Norbert"],["dc.contributor.author","Kaulfuß, Silke"],["dc.contributor.author","Ernst, Corinna"],["dc.contributor.author","Paul, Victoria G."],["dc.contributor.author","Honisch, Ellen"],["dc.contributor.author","Klaschik, Kristina"],["dc.contributor.author","Volk, Alexander E."],["dc.contributor.author","Kubisch, Christian"],["dc.contributor.author","Rapp, Steffen"],["dc.contributor.author","Lichey, Nadine"],["dc.contributor.author","Altmüller, Janine"],["dc.contributor.author","Lepkes, Louisa"],["dc.contributor.author","Pohl-Rescigno, Esther"],["dc.contributor.author","Thiele, Holger"],["dc.contributor.author","Nürnberg, Peter"],["dc.contributor.author","Larsen, Mirjam"],["dc.contributor.author","Richters, Lisa"],["dc.contributor.author","Rhiem, Kerstin"],["dc.contributor.author","Wappenschmidt, Barbara"],["dc.contributor.author","Engel, Christoph"],["dc.contributor.author","Meindl, Alfons"],["dc.contributor.author","Schmutzler, Rita K."],["dc.contributor.author","Hahnen, Eric"],["dc.contributor.author","Hauke, Jan"],["dc.date.accessioned","2019-07-09T11:51:25Z"],["dc.date.available","2019-07-09T11:51:25Z"],["dc.date.issued","2019"],["dc.description.abstract","BACKGROUND: The role of the BARD1 gene in breast cancer (BC) and ovarian cancer (OC) predisposition remains elusive, as published case-control investigations have revealed controversial results. We aimed to assess the role of deleterious BARD1 germline variants in BC/OC predisposition in a sample of 4920 BRCA1/2-negative female BC/OC index patients of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC). METHODS: A total of 4469 female index patients with BC, 451 index patients with OC, and 2767 geographically matched female control individuals were screened for loss-of-function (LoF) mutations and potentially damaging rare missense variants in BARD1. All patients met the inclusion criteria of the GC-HBOC for germline testing and reported at least one relative with BC or OC. Additional control datasets (Exome Aggregation Consortium, ExAC; Fabulous Ladies Over Seventy, FLOSSIES) were included for the calculation of odds ratios (ORs). RESULTS: We identified LoF variants in 23 of 4469 BC index patients (0.51%) and in 36 of 37,265 control individuals (0.10%), resulting in an OR of 5.35 (95% confidence interval [CI] = 3.17-9.04; P < 0.00001). BARD1-mutated BC index patients showed a significantly younger mean age at first diagnosis (AAD; 42.3 years, range 24-60 years) compared with the overall study sample (48.6 years, range 17-92 years; P = 0.00347). In the subgroup of BC index patients with an AAD < 40 years, an OR of 12.04 (95% CI = 5.78-25.08; P < 0.00001) was observed. An OR of 7.43 (95% CI = 4.26-12.98; P < 0.00001) was observed when stratified for an AAD < 50 years. LoF variants in BARD1 were not significantly associated with BC in the subgroup of index patients with an AAD ≥ 50 years (OR = 2.29; 95% CI = 0.82-6.45; P = 0.11217). Overall, rare and predicted damaging BARD1 missense variants were significantly more prevalent in BC index patients compared with control individuals (OR = 2.15; 95% CI = 1.26-3.67; P = 0.00723). Neither LoF variants nor predicted damaging rare missense variants in BARD1 were identified in 451 familial index patients with OC. CONCLUSIONS: Due to the significant association of germline LoF variants in BARD1 with early-onset BC, we suggest that intensified BC surveillance programs should be offered to women carrying pathogenic BARD1 gene variants."],["dc.identifier.doi","10.1186/s13058-019-1137-9"],["dc.identifier.pmid","31036035"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/16123"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/59944"],["dc.language.iso","en"],["dc.notes.intern","Merged from goescholar"],["dc.rights","CC BY 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0"],["dc.subject.ddc","610"],["dc.title","Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","723"],["dc.bibliographiccitation.issue","7"],["dc.bibliographiccitation.journal","Der Anaesthesist"],["dc.bibliographiccitation.lastpage","728"],["dc.bibliographiccitation.volume","57"],["dc.contributor.author","Reinhart, Konrad"],["dc.contributor.author","Brunkhorst, Frank M."],["dc.contributor.author","Engel, C."],["dc.contributor.author","Bloos, Frank"],["dc.contributor.author","Meier-Hellmann, Andreas"],["dc.contributor.author","Ragaller, Maximilian"],["dc.contributor.author","Weiler, Norbert"],["dc.contributor.author","Moerer, Onnen"],["dc.contributor.author","Gruendling, Matthias"],["dc.contributor.author","Oppert, Michael"],["dc.contributor.author","Grond, S."],["dc.contributor.author","Olthoff, Derk"],["dc.contributor.author","Jaschinski, Ulrich"],["dc.contributor.author","John, S."],["dc.contributor.author","Rossaint, Rolf"],["dc.contributor.author","Welte, Tobias"],["dc.contributor.author","Schaefer, M."],["dc.contributor.author","Kern, R."],["dc.contributor.author","Kuhnt, Evelyn"],["dc.contributor.author","Kiehntopf, Michael"],["dc.contributor.author","Deufel, Thomas"],["dc.contributor.author","Hartog, Christiane"],["dc.contributor.author","Gerlach, Herwig"],["dc.contributor.author","Stueber, F."],["dc.contributor.author","Volk, H.-D."],["dc.contributor.author","Quintel, M."],["dc.contributor.author","Loeffler, Markus"],["dc.date.accessioned","2018-11-07T11:13:08Z"],["dc.date.available","2018-11-07T11:13:08Z"],["dc.date.issued","2008"],["dc.identifier.doi","10.1007/s00101-008-1391-1"],["dc.identifier.isi","000257988500012"],["dc.identifier.pmid","18584135"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/53824"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Springer"],["dc.relation.issn","0003-2417"],["dc.title","Study protocol of the VISEP-Study. Answer of the SepNet-Study group"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.subtype","letter_note"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1557"],["dc.bibliographiccitation.issue","9"],["dc.bibliographiccitation.journal","Human Mutation"],["dc.bibliographiccitation.lastpage","1578"],["dc.bibliographiccitation.volume","40"],["dc.contributor.author","Parsons, Michael T."],["dc.contributor.author","Tudini, Emma"],["dc.contributor.author","Li, Hongyan"],["dc.contributor.author","Hahnen, Eric"],["dc.contributor.author","Wappenschmidt, Barbara"],["dc.contributor.author","Feliubadaló, Lidia"],["dc.contributor.author","Aalfs, Cora M."],["dc.contributor.author","Agata, Simona"],["dc.contributor.author","Aittomäki, Kristiina"],["dc.contributor.author","Alducci, Elisa"],["dc.contributor.author","Kaulfuß, Silke"],["dc.contributor.author","Engel, Christoph"],["dc.contributor.author","Spurdle, Amanda B."],["dc.date.accessioned","2019-12-02T14:12:29Z"],["dc.date.accessioned","2021-10-27T13:21:42Z"],["dc.date.available","2019-12-02T14:12:29Z"],["dc.date.available","2021-10-27T13:21:42Z"],["dc.date.issued","2019"],["dc.description.abstract","The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes. Independent data types currently incorporated in the model for assessing BRCA1 and BRCA2 variants include clinically calibrated prior probability of pathogenicity based on variant location and bioinformatic prediction of variant effect, co-segregation, family cancer history profile, co-occurrence with a pathogenic variant in the same gene, breast tumor pathology, and case-control information. Research and clinical data for multifactorial likelihood analysis were collated for 1,395 BRCA1/2 predominantly intronic and missense variants, enabling classification based on posterior probability of pathogenicity for 734 variants: 447 variants were classified as (likely) benign, and 94 as (likely) pathogenic; and 248 classifications were new or considerably altered relative to ClinVar submissions. Classifications were compared with information not yet included in the likelihood model, and evidence strengths aligned to those recommended for ACMG/AMP classification codes. Altered mRNA splicing or function relative to known nonpathogenic variant controls were moderately to strongly predictive of variant pathogenicity. Variant absence in population datasets provided supporting evidence for variant pathogenicity. These findings have direct relevance for BRCA1 and BRCA2 variant evaluation, and justify the need for gene-specific calibration of evidence types used for variant classification."],["dc.identifier.doi","10.1002/humu.23818"],["dc.identifier.eissn","1098-1004"],["dc.identifier.issn","1059-7794"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/16801"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/92041"],["dc.language.iso","en"],["dc.notes.intern","Migrated from goescholar"],["dc.relation.eissn","1098-1004"],["dc.relation.issn","1059-7794"],["dc.relation.orgunit","Universitätsmedizin Göttingen"],["dc.rights","CC BY 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0"],["dc.subject.ddc","610"],["dc.title","Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","230"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","Journal of Empirical Legal Studies"],["dc.bibliographiccitation.lastpage","252"],["dc.bibliographiccitation.volume","10"],["dc.contributor.author","Gloeckner, Andreas"],["dc.contributor.author","Engel, Christoph"],["dc.date.accessioned","2018-11-07T09:24:30Z"],["dc.date.available","2018-11-07T09:24:30Z"],["dc.date.issued","2013"],["dc.description.abstract","Jury members are confronted with highly complex, ill-defined problems. Coherence-based reasoning (Pennington & Hastie 1992; Simon 2004), which partially relies on intuitive-automatic processing, empowers them to nonetheless make meaningful decisions. These processes, however, have a downside. We tested possible negative effects in a set of studies. Specifically, we investigated whether stricter standards of proof are suppressed by stronger coherence shifts and whether the probative value of the evidence is properly taken into account. We found that U.S. model jury instructions for preponderance of the evidence and beyond a reasonable doubt influence conviction rates in the intended direction and are not undermined by coherence shifts, although probabilistic estimations of these standards are inappropriate. However, even massive changes in explicitly stated probabilities, while holding the overall constellation of facts constant, did not influence conviction rates or the estimated probability of conviction. We argue that reforms in legal procedure should focus on measures to reduce the negative side effects of coherence-based reasoning in general but, more specifically, to make probabilistic information better evaluable for decisionmakers in law."],["dc.identifier.doi","10.1111/jels.12009"],["dc.identifier.isi","000318079300003"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/29840"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell"],["dc.relation.issn","1740-1453"],["dc.title","Can We Trust Intuitive Jurors? Standards of Proof and the Probative Value of Evidence in Coherence-Based Reasoning"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","12129"],["dc.bibliographiccitation.firstpage","1"],["dc.bibliographiccitation.journal","Nature Communications"],["dc.bibliographiccitation.lastpage","5"],["dc.bibliographiccitation.volume","7"],["dc.contributor.author","Engel, C."],["dc.contributor.author","Plitzko, J."],["dc.contributor.author","Cramer, P."],["dc.date.accessioned","2017-09-07T11:44:49Z"],["dc.date.available","2017-09-07T11:44:49Z"],["dc.date.issued","2016"],["dc.description.abstract","Transcription of ribosomal DNA by RNA polymerase I (Pol I) requires the initiation factor Rrn3. Here we report the cryo-EM structure of the Pol I-Rrn3 complex at 4.8 angstrom resolution. The structure reveals how Rrn3 binding converts an inactive Pol I dimer into an initiation-competent monomeric complex and provides insights into the mechanisms of Pol I-specific initiation and regulation."],["dc.identifier.doi","10.1038/ncomms12129"],["dc.identifier.gro","3141652"],["dc.identifier.isi","000380781000001"],["dc.identifier.pmid","27418309"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/5565"],["dc.language.iso","en"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.relation.issn","2041-1723"],["dc.title","RNA polymerase I-Rrn3 complex at 4.8 angstrom resolution"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","2719"],["dc.bibliographiccitation.issue","10"],["dc.bibliographiccitation.journal","Critical Care Medicine"],["dc.bibliographiccitation.lastpage","2725"],["dc.bibliographiccitation.volume","36"],["dc.contributor.author","Brunkhorst, Frank M."],["dc.contributor.author","Engel, Christoph"],["dc.contributor.author","Ragaller, Max"],["dc.contributor.author","Welte, Tobias"],["dc.contributor.author","Rossaint, Rolf"],["dc.contributor.author","Gerlach, Herwig"],["dc.contributor.author","Mayer, Konstantin"],["dc.contributor.author","John, Stefan"],["dc.contributor.author","Stuber, Frank"],["dc.contributor.author","Weiler, Norbert"],["dc.contributor.author","Oppert, Michael"],["dc.contributor.author","Moerer, Onnen"],["dc.contributor.author","Bogatsch, Holger"],["dc.contributor.author","Reinhart, Konrad"],["dc.contributor.author","Loeffler, Markus"],["dc.contributor.author","Hartog, Christiane"],["dc.date.accessioned","2018-11-07T11:10:25Z"],["dc.date.available","2018-11-07T11:10:25Z"],["dc.date.issued","2008"],["dc.description.abstract","Objective: To simultaneously determine perceived vs. practiced adherence to recommended interventions for the treatment of severe sepsis or septic shock. Design: One-day cross-sectional survey. Setting: Representative sample of German intensive care units stratified by hospital size. Patients: Adult patients with severe sepsis or septic shock. Interventions: None. Measurements and Main Results: Practice recommendations were selected by German Sepsis Competence Network (SepNet) investigators. External intensivists visited intensive care units randomly chosen and asked the responsible intensive care unit director how often these recommendations were used. Responses \"always\" and \"frequently\" were combined to depict perceived adherence. Thereafter patient files were audited. Three hundred sixty-six patients on 214 intensive care units fulfilled the criteria and received full support. One hundred fifty-two patients had acute lung injury or acute respiratory distress syndrome. Low-tidal volume ventilation <= 6 mL/kg/predicted body weight was documented in 2.6% of these patients. A total of 17.1% patients had tidal volume between 6 and 8 mL/kg predicted body weight and 80.3% >8 mL/kg predicted body weight. Mean tidal volume was 10.0 +/- 2.4 mL/kg predicted body weight. Perceived ence to low-tidal volume ventilation was 79.9%. Euglycemia 6.1 mmol/L) was documented in 6.2% of 355 patients. A total 33.8% of patients had blood glucose levels <= 8.3 mmol/L and 66.2% were hyperglycemic (blood glucose >8.3 mmol/L. Among 207 patients receiving insulin therapy, 1.9% were euglycemic, 20.8% had blood glucose levels <= 8.3 mmol/L, and 1.0% were hypoglycemic. Overall, mean maximal glucose level was 10.0 +/- 3.6 mmol/L. Perceived adherence to strict glycemic control was 65.9%. Although perceived adherence to recommendations was higher in academic and larger hospitals, actual practice was not significantly influenced by hospital size or university affiliation. Conclusions: This representative survey shows that current therapy of severe sepsis in German intensive care units complies poorly with practice recommendations. Intensive care unit directors perceive adherence to be higher than it actually is. Implementation strategies involving all intensive care unit staff are needed to overcome this gap between current evidence-based knowledge, practice, and perception."],["dc.identifier.doi","10.1097/CCM.0b013e318186b6f3"],["dc.identifier.isi","000259766000001"],["dc.identifier.pmid","18766100"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/53208"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Lippincott Williams & Wilkins"],["dc.relation.issn","0090-3493"],["dc.title","Practice and perception - A nationwide survey of therapy habits in sepsis"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]