TY - JOUR A1 - Okoro, Chinyere K. A1 - Barquist, Lars A1 - Connor, Thomas R. A1 - Harris, Simon R. A1 - Clare, Simon A1 - Stevens, Mark P. A1 - Arends, Mark J. A1 - Hale, Christine A1 - Kane, Leanne A1 - Pickard, Derek J. A1 - Hill, Jennifer A1 - Harcourt, Katherine A1 - Parkhill, Julian A1 - Dougan, Gordon A1 - Kingsley, Robert A. T1 - Signatures of adaptation in human invasive Salmonella Typhimurium ST313 populations from sub-Saharan Africa JF - PLoS Neglected Tropical Diseases N2 - Two lineages of Salmonella enterica serovar Typhimurium (S. Typhimurium) of multi-locus sequence type ST313 have been linked with the emergence of invasive Salmonella disease across sub-Saharan Africa. The expansion of these lineages has a temporal association with the HIV pandemic and antibiotic usage. We analysed the whole genome sequence of 129 ST313 isolates representative of the two lineages and found evidence of lineage-specific genome degradation, with some similarities to that observed in S. Typhi. Individual ST313 S. Typhimurium isolates exhibit a distinct metabolic signature and modified enteropathogenesis in both a murine and cattle model of colitis, compared to S. Typhimurium outside of the ST313 lineages. These data define phenotypes that distinguish ST313 isolates from other S. Typhimurium and may represent adaptation to a distinct pathogenesis and lifestyle linked to an-immuno-compromised human population. KW - genome sequence KW - infection KW - pathogenicity KW - children KW - disease KW - adults KW - identification KW - Escherichia coli KW - virulence Y1 - 2015 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-143779 VL - 9 IS - 3 ER - TY - JOUR A1 - Davis, Lea K. A1 - Yu, Dongmei A1 - Keenan, Clare L. A1 - Gamazon, Eric R. A1 - Konkashbaev, Anuar I. A1 - Derks, Eske M. A1 - Neale, Benjamin M. A1 - Yang, Jian A1 - Lee, S. Hong A1 - Evans, Patrick A1 - Barr, Cathy L. A1 - Bellodi, Laura A1 - Benarroch, Fortu A1 - Berrio, Gabriel Bedoya A1 - Bienvenu, Oscar J. A1 - Bloch, Michael H. A1 - Blom, Rianne M. A1 - Bruun, Ruth D. A1 - Budman, Cathy L. A1 - Camarena, Beatriz A1 - Campbell, Desmond A1 - Cappi, Carolina A1 - Cardona Silgado, Julio C. A1 - Cath, Danielle C. A1 - Cavallini, Maria C. A1 - Chavira, Denise A. A1 - Chouinard, Sylvian A1 - Conti, David V. A1 - Cook, Edwin H. A1 - Coric, Vladimir A1 - Cullen, Bernadette A. A1 - Deforce, Dieter A1 - Delorme, Richard A1 - Dion, Yves A1 - Edlund, Christopher K. A1 - Egberts, Karin A1 - Falkai, Peter A1 - Fernandez, Thomas V. A1 - Gallagher, Patience J. A1 - Garrido, Helena A1 - Geller, Daniel A1 - Girard, Simon L. A1 - Grabe, Hans J. A1 - Grados, Marco A. A1 - Greenberg, Benjamin D. A1 - Gross-Tsur, Varda A1 - Haddad, Stephen A1 - Heiman, Gary A. A1 - Hemmings, Sian M. J. A1 - Hounie, Ana G. A1 - Illmann, Cornelia A1 - Jankovic, Joseph A1 - Jenike, Micheal A. A1 - Kennedy, James L. A1 - King, Robert A. A1 - Kremeyer, Barbara A1 - Kurlan, Roger A1 - Lanzagorta, Nuria A1 - Leboyer, Marion A1 - Leckman, James F. A1 - Lennertz, Leonhard A1 - Liu, Chunyu A1 - Lochner, Christine A1 - Lowe, Thomas L. A1 - Macciardi, Fabio A1 - McCracken, James T. A1 - McGrath, Lauren M. A1 - Restrepo, Sandra C. Mesa A1 - Moessner, Rainald A1 - Morgan, Jubel A1 - Muller, Heike A1 - Murphy, Dennis L. A1 - Naarden, Allan L. A1 - Ochoa, William Cornejo A1 - Ophoff, Roel A. A1 - Osiecki, Lisa A1 - Pakstis, Andrew J. A1 - Pato, Michele T. A1 - Pato, Carlos N. A1 - Piacentini, John A1 - Pittenger, Christopher A1 - Pollak, Yehunda A1 - Rauch, Scott L. A1 - Renner, Tobias J. A1 - Reus, Victor I. A1 - Richter, Margaret A. A1 - Riddle, Mark A. A1 - Robertson, Mary M. A1 - Romero, Roxana A1 - Rosàrio, Maria C. A1 - Rosenberg, David A1 - Rouleau, Guy A. A1 - Ruhrmann, Stephan A1 - Ruiz-Linares, Andreas A1 - Sampaio, Aline S. A1 - Samuels, Jack A1 - Sandor, Paul A1 - Sheppard, Broke A1 - Singer, Harvey S. A1 - Smit, Jan H. A1 - Stein, Dan J. A1 - Strengman, E. A1 - Tischfield, Jay A. A1 - Valencia Duarte, Ana V. A1 - Vallada, Homero A1 - Van Nieuwerburgh, Flip A1 - Veenstra-VanderWeele, Jeremy A1 - Walitza, Susanne A1 - Wang, Ying A1 - Wendland, Jens R. A1 - Westenberg, Herman G. M. A1 - Shugart, Yin Yao A1 - Miguel, Euripedes C. A1 - McMahon, William A1 - Wagner, Michael A1 - Nicolini, Humberto A1 - Posthuma, Danielle A1 - Hanna, Gregory L. A1 - Heutink, Peter A1 - Denys, Damiaan A1 - Arnold, Paul D. A1 - Oostra, Ben A. A1 - Nestadt, Gerald A1 - Freimer, Nelson B. A1 - Pauls, David L. A1 - Wray, Naomi R. A1 - Stewart, S. Evelyn A1 - Mathews, Carol A. A1 - Knowles, James A. A1 - Cox, Nancy J. A1 - Scharf, Jeremiah M. T1 - Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture JF - PLoS Genetics N2 - The direct estimation of heritability from genome-wide common variant data as implemented in the program Genome-wide Complex Trait Analysis (GCTA) has provided a means to quantify heritability attributable to all interrogated variants. We have quantified the variance in liability to disease explained by all SNPs for two phenotypically-related neurobehavioral disorders, obsessive-compulsive disorder (OCD) and Tourette Syndrome (TS), using GCTA. Our analysis yielded a heritability point estimate of 0.58 (se = 0.09, p = 5.64e-12) for TS, and 0.37 (se = 0.07, p = 1.5e-07) for OCD. In addition, we conducted multiple genomic partitioning analyses to identify genomic elements that concentrate this heritability. We examined genomic architectures of TS and OCD by chromosome, MAF bin, and functional annotations. In addition, we assessed heritability for early onset and adult onset OCD. Among other notable results, we found that SNPs with a minor allele frequency of less than 5% accounted for 21% of the TS heritability and 0% of the OCD heritability. Additionally, we identified a significant contribution to TS and OCD heritability by variants significantly associated with gene expression in two regions of the brain (parietal cortex and cerebellum) for which we had available expression quantitative trait loci (eQTLs). Finally we analyzed the genetic correlation between TS and OCD, revealing a genetic correlation of 0.41 (se = 0.15, p = 0.002). These results are very close to previous heritability estimates for TS and OCD based on twin and family studies, suggesting that very little, if any, heritability is truly missing (i.e., unassayed) from TS and OCD GWAS studies of common variation. The results also indicate that there is some genetic overlap between these two phenotypically-related neuropsychiatric disorders, but suggest that the two disorders have distinct genetic architectures. KW - TIC disorders KW - missing heritability KW - complex diseases KW - neuropsychiatric disorders KW - common SNPS KW - gilles KW - family KW - brain KW - expression KW - autism Y1 - 2013 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-127377 SN - 1553-7390 VL - 9 IS - 10 ER - TY - RPRT A1 - Meyer, Constantin A1 - Job, Hubert A1 - Laner, Peter A1 - Omizzolo, Andrea A1 - Kollmann, Nadia A1 - Clare, Jasmin A1 - Vesely, Philipp A1 - Riedler, Walter A1 - Plassmann, Guido A1 - Coronado, Oriana A1 - Praper Gulič, Sergeja A1 - Gulič, Andrej A1 - Koblar, Simon A1 - Teofili, Corrado A1 - Rohringer, Verena A1 - Schoßleitner, Richard A1 - Ainz, Gerhard T1 - OpenSpaceAlps Planungshandbuch: Perspektiven für eine konsistente Freiraumsicherung im Alpenraum T1 - OpenSpaceAlps Planning Handbook: Perspectives for consistent safeguarding of open spaces in the Alpine region N2 - Im Alpenraum lässt sich nach wie vor die kontinuierliche Inanspruchnahme von Freiräumen für Siedlungsflächen und technische Infrastrukturen und die damit verbundene Bodenversiegelung beobachten. Dies führt in erster Linie zum Verlust von landwirtschaftlichen Flächen. Je nach Ausmaß der Bebauung kommt es auch zu einer verstärkten Landschaftszerschneidung, die zur Isolierung natürlicher Lebensräume und zur Einschränkung des ökologischen Verbundes sowie zu weiteren negativen Folgewirkungen führt. Das OpenSpaceAlps Projekt hat sich dieser Thematik angenommen und, basierend auf kooperativen Verfahren in mehreren Pilotregionen, Handlungsansätze und Strategien für eine nachhaltige Sicherung von Freiräumen entwickelt. Dieses Handbuch stellt eine Handlungs- und Entscheidungshilfe für verschiedene Akteure/Akteurinnen dar, allen voran Planer*innen in öffentlichen Planungsbehörden. Ausgehend von einer Analyse der Herausforderungen und Rahmenbedingungen im Alpenraum, werden in diesem Handbuch zentrale „Prinzipien“ der Freiraumplanung vorgestellt und verglichen. Außerdem werden integrierte Planungsstrategien für verschiedene Raumkategorien diskutiert. KW - Raumordnung KW - Alpen KW - Alpen KW - OpenSpaceAlps KW - Freiraum KW - Raumplanung KW - Transnationale Zusammenarbeit Y1 - 2022 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-273070 N1 - English version available at: https://doi.org/10.25972/OPUS-27040. Italian version available at: https://doi.org/10.25972/OPUS-27704. N1 - The OpenSpaceAlps project is co-financed by the European Regional Development Fund through the Interreg Alpine Space programme. ER - TY - RPRT A1 - Meyer, Constantin A1 - Job, Hubert A1 - Laner, Peter A1 - Omizzolo, Andrea A1 - Kollmann, Nadia A1 - Clare, Jasmin A1 - Vesely, Philipp A1 - Riedler, Walter A1 - Plassmann, Guido A1 - Coronado, Oriana A1 - Praper Gulič, Sergeja A1 - Gulič, Andrej A1 - Koblar, Simon A1 - Teofili, Corrado A1 - Rohringer, Verena A1 - Schoßleitner, Richard A1 - Ainz, Gerhard T1 - Izhodišča za usklajeno ohranjanje odprtega prostora na območju Alp: Načrtovalski priročnik projekta OpenSpaceAlps N2 - Na območju Alp že dalj časa poteka preobrazba odprtega prostora zaradi gradnje in širjenja naselij ter tehnične infrastrukture. Navedeni procesi povzročajo zlasti izgubo kmetijskih zemljišč, stalno pokritje površine tal z nepropustnimi snovmi in razdrobljenost krajine. Razdrobljenost je odvisna od vrst posegov in stopnje pozidanosti prostora, poglavitna negativna učinka pa sta izolacija naravnih habitatov in slabšanje ekološke povezljivosti. Opisana problematika je bila glavna tema projekta OpenSpaceAlps, v katerem so bili ob sodelovanju z deležniki na več pilotnih območjih razviti pristopi in rešitve, ki omogočajo trajnostno ohranjanje odprtega prostora. Načrtovalski priročnik povzema del rezultatov projekta. Namenjen je različnim deležnikom, zlasti načrtovalcem v javnih službah, kot pripomoček pri izvajanju načrtovalskih nalog in odločanju. V priročniku so predstavljeni analiza izzivov in okvirnih pogojev v Alpah ter opis in primerjava poglavitnih načel načrtovanja odprtega prostora, obravnavane pa so tudi celostne načrtovalske strategije za različne kategorije prostora. KW - Raumordnung KW - Alpen KW - OpenSpaceAlps KW - Alpe KW - Prostorsko načrtovanje KW - Transnacionalno sodelovanje Y1 - 2022 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-286518 N1 - English version available at: https://doi.org/10.25972/OPUS-27040. German version available at: https://doi.org/10.25972/OPUS-27307. Italian version available at: https://doi.org/10.25972/OPUS-27704 N1 - The OpenSpaceAlps project is co-financed by the European Regional Development Fund through the Interreg Alpine Space programme. ER - TY - JOUR A1 - Postema, Merel C. A1 - Hoogman, Martine A1 - Ambrosino, Sara A1 - Asherson, Philip A1 - Banaschewski, Tobias A1 - Bandeira, Cibele E. A1 - Baranov, Alexandr A1 - Bau, Claiton H.D. A1 - Baumeister, Sarah A1 - Baur‐Streubel, Ramona A1 - Bellgrove, Mark A. A1 - Biederman, Joseph A1 - Bralten, Janita A1 - Brandeis, Daniel A1 - Brem, Silvia A1 - Buitelaar, Jan K. A1 - Busatto, Geraldo F. A1 - Castellanos, Francisco X. A1 - Cercignani, Mara A1 - Chaim‐Avancini, Tiffany M. A1 - Chantiluke, Kaylita C. A1 - Christakou, Anastasia A1 - Coghill, David A1 - Conzelmann, Annette A1 - Cubillo, Ana I. A1 - Cupertino, Renata B. A1 - de Zeeuw, Patrick A1 - Doyle, Alysa E. A1 - Durston, Sarah A1 - Earl, Eric A. A1 - Epstein, Jeffery N. A1 - Ethofer, Thomas A1 - Fair, Damien A. A1 - Fallgatter, Andreas J. A1 - Faraone, Stephen V. A1 - Frodl, Thomas A1 - Gabel, Matt C. A1 - Gogberashvili, Tinatin A1 - Grevet, Eugenio H. A1 - Haavik, Jan A1 - Harrison, Neil A. A1 - Hartman, Catharina A. A1 - Heslenfeld, Dirk J. A1 - Hoekstra, Pieter J. A1 - Hohmann, Sarah A1 - Høvik, Marie F. A1 - Jernigan, Terry L. A1 - Kardatzki, Bernd A1 - Karkashadze, Georgii A1 - Kelly, Clare A1 - Kohls, Gregor A1 - Konrad, Kerstin A1 - Kuntsi, Jonna A1 - Lazaro, Luisa A1 - Lera‐Miguel, Sara A1 - Lesch, Klaus‐Peter A1 - Louza, Mario R. A1 - Lundervold, Astri J. A1 - Malpas, Charles B A1 - Mattos, Paulo A1 - McCarthy, Hazel A1 - Namazova‐Baranova, Leyla A1 - Nicolau, Rosa A1 - Nigg, Joel T. A1 - Novotny, Stephanie E. A1 - Oberwelland Weiss, Eileen A1 - O'Gorman Tuura, Ruth L. A1 - Oosterlaan, Jaap A1 - Oranje, Bob A1 - Paloyelis, Yannis A1 - Pauli, Paul A1 - Picon, Felipe A. A1 - Plessen, Kerstin J. A1 - Ramos‐Quiroga, J. Antoni A1 - Reif, Andreas A1 - Reneman, Liesbeth A1 - Rosa, Pedro G.P. A1 - Rubia, Katya A1 - Schrantee, Anouk A1 - Schweren, Lizanne J.S. A1 - Seitz, Jochen A1 - Shaw, Philip A1 - Silk, Tim J. A1 - Skokauskas, Norbert A1 - Soliva Vila, Juan C. A1 - Stevens, Michael C. A1 - Sudre, Gustavo A1 - Tamm, Leanne A1 - Tovar‐Moll, Fernanda A1 - van Erp, Theo G.M. A1 - Vance, Alasdair A1 - Vilarroya, Oscar A1 - Vives‐Gilabert, Yolanda A1 - von Polier, Georg G. A1 - Walitza, Susanne A1 - Yoncheva, Yuliya N. A1 - Zanetti, Marcus V. A1 - Ziegler, Georg C. A1 - Glahn, David C. A1 - Jahanshad, Neda A1 - Medland, Sarah E. A1 - Thompson, Paul M. A1 - Fisher, Simon E. A1 - Franke, Barbara A1 - Francks, Clyde T1 - Analysis of structural brain asymmetries in attention‐deficit/hyperactivity disorder in 39 datasets JF - Journal of Child Psychology and Psychiatry N2 - Objective Some studies have suggested alterations of structural brain asymmetry in attention‐deficit/hyperactivity disorder (ADHD), but findings have been contradictory and based on small samples. Here, we performed the largest ever analysis of brain left‐right asymmetry in ADHD, using 39 datasets of the ENIGMA consortium. Methods We analyzed asymmetry of subcortical and cerebral cortical structures in up to 1,933 people with ADHD and 1,829 unaffected controls. Asymmetry Indexes (AIs) were calculated per participant for each bilaterally paired measure, and linear mixed effects modeling was applied separately in children, adolescents, adults, and the total sample, to test exhaustively for potential associations of ADHD with structural brain asymmetries. Results There was no evidence for altered caudate nucleus asymmetry in ADHD, in contrast to prior literature. In children, there was less rightward asymmetry of the total hemispheric surface area compared to controls (t = 2.1, p = .04). Lower rightward asymmetry of medial orbitofrontal cortex surface area in ADHD (t = 2.7, p = .01) was similar to a recent finding for autism spectrum disorder. There were also some differences in cortical thickness asymmetry across age groups. In adults with ADHD, globus pallidus asymmetry was altered compared to those without ADHD. However, all effects were small (Cohen’s d from −0.18 to 0.18) and would not survive study‐wide correction for multiple testing. Conclusion Prior studies of altered structural brain asymmetry in ADHD were likely underpowered to detect the small effects reported here. Altered structural asymmetry is unlikely to provide a useful biomarker for ADHD, but may provide neurobiological insights into the trait. KW - attention‐deficit KW - hyperactivity disorder KW - brain asymmetry KW - brain laterality KW - structural MRI KW - large‐scale data Y1 - 2021 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-239968 VL - 62 IS - 10 SP - 1202 EP - 1219 ER - TY - RPRT A1 - Meyer, Constantin A1 - Job, Hubert A1 - Laner, Peter A1 - Omizzolo, Andrea A1 - Kollmann, Nadia A1 - Clare, Jasmin A1 - Vesely, Philipp A1 - Riedler, Walter A1 - Plassmann, Guido A1 - Coronado, Oriana A1 - Praper Gulič, Sergeja A1 - Gulič, Andrej A1 - Koblar, Simon A1 - Teofili, Corrado A1 - Rohringer, Verena A1 - Schoßleitner, Richard A1 - Ainz, Gerhard T1 - OpenSpaceAlps Planning Handbook: Perspectives for consistent safeguarding of open spaces in the Alpine region N2 - In the Alpine region, the continuous consumption of open spaces for settlement areas and technical infrastructure and the associated soil sealing can be observed. This leads primarily to the loss of agricultural land. Depending on the extent of development, there is also increased landscape fragmentation, which is associated with the isolation of natural habitats and the restriction of ecological connectivity, as well as other negative consequences. The OpenSpaceAlps project has addressed this issue and, based on cooperative procedures in several pilot regions, has developed approaches and solution strategies for the sustainable safeguarding of open spaces. This handbook supports the activities and decision-making of various stakeholders, first and foremost planners in public planning authorities. Based on an analysis of the challenges and framework conditions in the Alpine region, the handbook presents and compares central "principles" of open space planning. Furthermore, integrated planning strategies for different spatial categories are discussed. KW - Raumordnung KW - spatial planning KW - Alps KW - OpenSpaceAlps KW - open space KW - transnational cooperation KW - Alpen Y1 - 2022 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-270401 N1 - German version available at: https://doi.org/10.25972/OPUS-27307. Italian version available at: https://doi.org/10.25972/OPUS-27704. Slovenian version available at: https://doi.org/10.25972/OPUS-28651. N1 - The OpenSpaceAlps project is co-financed by the European Regional Development Fund through the Interreg Alpine Space programme. ER - TY - RPRT A1 - Meyer, Constantin A1 - Job, Hubert A1 - Laner, Peter A1 - Omizzolo, Andrea A1 - Kollmann, Nadia A1 - Clare, Jasmin A1 - Vesely, Philipp A1 - Riedler, Walter A1 - Plassmann, Guido A1 - Coronado, Oriana A1 - Praper Gulič, Sergeja A1 - Gulič, Andrej A1 - Koblar, Simon A1 - Teofili, Corrado A1 - Rohringer, Verena A1 - Schoßleitner, Richard A1 - Ainz, Gerhard T1 - OpenSpaceAlps - Manuale di Pianificazione: Prospettive per la salvaguardia coerente degli Spazi Aperti nella regione alpina N2 - Nella regione alpina, si può osservare il continuo consumo di spazi aperti a causa dell’aumento di aree di insediamento e di infrastrutture tecniche e la conseguente impermeabilizzazione del suolo. Questo fenomeno porta principalmente alla perdita di suolo agricolo. A seconda dell'estensione dello sviluppo, si riscontra anche una maggiore frammentazione del paesaggio, che è associata all'isolamento degli habitat naturali e alla perdita della connettività ecologica, così come ad altre conseguenze negative. Il progetto OpenSpaceAlps ha affrontato questo problema e, sulla base di procedure cooperative partecipate attuate in diverse regioni pilota alpine, ha sviluppato approcci e strategie di soluzione per la salvaguardia sostenibile degli spazi aperti. Questo manuale supporta le attività e il processo decisionale di vari stakeholder, in primo luogo i pianificatori delle autorità pubbliche di pianificazione. Sulla base di un'analisi delle sfide e delle condizioni generali nella regione alpina, il manuale presenta e confronta i "principi" centrali della pianificazione degli spazi aperti. Inoltre, vengono discusse strategie di pianificazione integrata per diverse categorie spaziali. KW - Raumordnung KW - Alpen KW - OpenSpaceAlps KW - Alpi KW - pianificazione territoriale KW - spazi aperti KW - collaborazione transnazionale Y1 - 2022 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-277042 N1 - English version available at: https://doi.org/10.25972/OPUS-27040. German version available at: https://doi.org/10.25972/OPUS-27307. Slovenian version available at: https://doi.org/10.25972/OPUS-28651. N1 - The OpenSpaceAlps project is co-financed by the European Regional Development Fund through the Interreg Alpine Space programme. ER -