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  1. Article ; Online: Global transmission of extended-spectrum cephalosporin resistance in Escherichia coli driven by epidemic plasmids.

    Zamudio, Roxana / Boerlin, Patrick / Mulvey, Michael R / Haenni, Marisa / Beyrouthy, Racha / Madec, Jean-Yves / Schwarz, Stefan / Cormier, Ashley / Chalmers, Gabhan / Bonnet, Richard / Zhanel, George G / Kaspar, Heike / Mather, Alison E

    EBioMedicine

    2024  Volume 103, Page(s) 105097

    Abstract: ... the German Federal Ministry of Education and Research (BMBF) grant no. 01KI1709, the French Agency for food ... environmental and occupational health & safety (Anses), and the French National Reference Center (CNR ...

    Abstract Background: Extended-spectrum cephalosporins (ESCs) are third and fourth generation cephalosporin antimicrobials used in humans and animals to treat infections due to multidrug-resistant (MDR) bacteria. Resistance to ESCs (ESC-R) in Enterobacterales is predominantly due to the production of extended-spectrum β-lactamases (ESBLs) and plasmid-mediated AmpC β-lactamases (AmpCs). The dynamics of ESBLs and AmpCs are changing across countries and host species, the result of global transmission of ESC-R genes. Plasmids are known to play a key role in this dissemination, but the relative importance of different types of plasmids is not fully understood.
    Methods: In this study, Escherichia coli with the major ESC-R genes bla
    Findings: We identified five epidemic resistance plasmid subtypes with distinct genetic properties that are associated with the global dissemination of ESC-R genes across multiple E. coli lineages and host species. The IncI1 pST3 bla
    Interpretation: We provide evidence that epidemic resistance plasmid subtypes contribute to the global dissemination of ESC-R genes, and in addition, some of these epidemic plasmids confer resistance to multiple other antimicrobial classes. The success of these plasmids suggests that they may have a fitness advantage over other plasmid types and subtypes. Identification and understanding of the vehicles of AMR transmission are crucial to develop and target strategies and interventions to reduce the spread of AMR.
    Funding: This project was supported by the Joint Programming Initiative on Antimicrobial Resistance (JPIAMR), through the Medical Research Council (MRC, MR/R000948/1), the Canadian Institutes of Health Research (CFC-150770), and the Genomics Research and Development Initiative (Government of Canada), the German Federal Ministry of Education and Research (BMBF) grant no. 01KI1709, the French Agency for food environmental and occupational health & safety (Anses), and the French National Reference Center (CNR) for antimicrobial resistance. Support was also provided by the Biotechnology and Biological Sciences Research Council (BBSRC) through the BBSRC Institute Strategic Programme Microbes in the Food ChainBB/R012504/1 and its constituent project BBS/E/F/000PR10348 (Theme 1, Epidemiology and Evolution of Pathogens in the Food Chain).
    Language English
    Publishing date 2024-04-11
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2851331-9
    ISSN 2352-3964
    ISSN (online) 2352-3964
    DOI 10.1016/j.ebiom.2024.105097
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  2. Article: Statistical methods for linking health, exposure, and hazards.

    Mather, Frances Jean / White, LuAnn Ellis / Langlois, Elizabeth Cullen / Shorter, Charles Franklin / Swalm, Christopher Martin / Shaffer, Jeffrey George / Hartley, William Ralph

    Environmental health perspectives

    2004  Volume 112, Issue 14, Page(s) 1440–1445

    Abstract: The Environmental Public Health Tracking Network (EPHTN) proposes to link environmental hazards and exposures to health outcomes. Statistical methods used in case-control and cohort studies to link health outcomes to individual exposure estimates are ... ...

    Abstract The Environmental Public Health Tracking Network (EPHTN) proposes to link environmental hazards and exposures to health outcomes. Statistical methods used in case-control and cohort studies to link health outcomes to individual exposure estimates are well developed. However, reliable exposure estimates for many contaminants are not available at the individual level. In these cases, exposure/hazard data are often aggregated over a geographic area, and ecologic models are used to relate health outcome and exposure/hazard. Ecologic models are not without limitations in interpretation. EPHTN data are characteristic of much information currently being collected--they are multivariate, with many predictors and response variables, often aggregated over geographic regions (small and large) and correlated in space and/or time. The methods to model trends in space and time, handle correlation structures in the data, estimate effects, test hypotheses, and predict future outcomes are relatively new and without extensive application in environmental public health. In this article we outline a tiered approach to data analysis for EPHTN and review the use of standard methods for relating exposure/hazards, disease mapping and clustering techniques, Bayesian approaches, Markov chain Monte Carlo methods for estimation of posterior parameters, and geostatistical methods. The advantages and limitations of these methods are discussed.
    MeSH term(s) Case-Control Studies ; Cohort Studies ; Data Collection ; Environmental Exposure ; Environmental Health/statistics & numerical data ; Environmental Pollutants/poisoning ; Geographic Information Systems ; Humans ; Information Systems ; Models, Theoretical ; Monte Carlo Method ; Multivariate Analysis ; Outcome Assessment (Health Care) ; Reproducibility of Results ; Risk Assessment ; United States
    Chemical Substances Environmental Pollutants
    Language English
    Publishing date 2004-10
    Publishing country United States
    Document type Journal Article ; Research Support, U.S. Gov't, P.H.S.
    ZDB-ID 195189-0
    ISSN 1552-9924 ; 0091-6765 ; 1078-0475
    ISSN (online) 1552-9924
    ISSN 0091-6765 ; 1078-0475
    DOI 10.1289/ehp.7145
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.B 1360: Show issues Location:
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  3. Article ; Online: Circulating unmethylated CHTOP and INS DNA fragments provide evidence of possible islet cell death in youth with obesity and diabetes.

    Syed, Farooq / Tersey, Sarah A / Turatsinze, Jean-Valery / Felton, Jamie L / Kang, Nicole Jiyun / Nelson, Jennifer B / Sims, Emily K / Defrance, Mathieu / Bizet, Martin / Fuks, Francois / Cnop, Miriam / Bugliani, Marco / Marchetti, Piero / Ziegler, Anette-Gabriele / Bonifacio, Ezio / Webb-Robertson, Bobbie-Jo / Balamurugan, Appakalai N / Evans-Molina, Carmella / Eizirik, Decio L /
    Mather, Kieren J / Arslanian, Silva / Mirmira, Raghavendra G

    Clinical epigenetics

    2020  Volume 12, Issue 1, Page(s) 116

    Abstract: Background: Identification of islet β cell death prior to the onset of type 1 diabetes (T1D) or type 2 diabetes (T2D) might allow for interventions to protect β cells and reduce diabetes risk. Circulating unmethylated DNA fragments arising from the ... ...

    Abstract Background: Identification of islet β cell death prior to the onset of type 1 diabetes (T1D) or type 2 diabetes (T2D) might allow for interventions to protect β cells and reduce diabetes risk. Circulating unmethylated DNA fragments arising from the human INS gene have been proposed as biomarkers of β cell death, but this gene alone may not be sufficiently specific to report β cell death.
    Results: To identify new candidate genes whose CpG sites may show greater specificity for β cells, we performed unbiased DNA methylation analysis using the Infinium HumanMethylation 450 array on 64 human islet preparations and 27 non-islet human tissues. For verification of array results, bisulfite DNA sequencing of human β cells and 11 non-β cell tissues was performed on 5 of the top 10 CpG sites that were found to be differentially methylated. We identified the CHTOP gene as a candidate whose CpGs show a greater frequency of unmethylation in human islets. A digital PCR strategy was used to determine the methylation pattern of CHTOP and INS CpG sites in primary human tissues. Although both INS and CHTOP contained unmethylated CpG sites in non-islet tissues, they occurred in a non-overlapping pattern. Based on Naïve Bayes classifier analysis, the two genes together report 100% specificity for islet damage. Digital PCR was then performed on cell-free DNA from serum from human subjects. Compared to healthy controls (N = 10), differentially methylated CHTOP and INS levels were higher in youth with new onset T1D (N = 43) and, unexpectedly, in healthy autoantibody-negative youth who have first-degree relatives with T1D (N = 23). When tested in lean (N = 32) and obese (N = 118) youth, increased levels of unmethylated INS and CHTOP were observed in obese individuals.
    Conclusion: Our data suggest that concurrent measurement of circulating unmethylated INS and CHTOP has the potential to detect islet death in youth at risk for both T1D and T2D. Our data also support the use of multiple parameters to increase the confidence of detecting islet damage in individuals at risk for developing diabetes.
    MeSH term(s) Cell Death/genetics ; Cell-Free Nucleic Acids/blood ; Cell-Free Nucleic Acids/genetics ; Child ; Diabetes Mellitus/blood ; Diabetes Mellitus/genetics ; Female ; Humans ; Insulin/blood ; Insulin/genetics ; Islets of Langerhans ; Male ; Nuclear Proteins/blood ; Nuclear Proteins/genetics ; Pediatric Obesity/blood ; Pediatric Obesity/genetics ; Transcription Factors/blood ; Transcription Factors/genetics
    Chemical Substances CHTOP protein, human ; Cell-Free Nucleic Acids ; Insulin ; Nuclear Proteins ; Transcription Factors
    Language English
    Publishing date 2020-07-31
    Publishing country Germany
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2553921-8
    ISSN 1868-7083 ; 1868-7075
    ISSN (online) 1868-7083
    ISSN 1868-7075
    DOI 10.1186/s13148-020-00906-5
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Improving malaria control in West Africa: interruption of transmission as a paradigm shift.

    Doumbia, Seydou O / Ndiaye, Daouda / Koita, Ousmane A / Diakité, Mahamadou / Nwakanma, Davis / Coulibaly, Mamadou / Traoré, Sekou F / Keating, Joseph / Milner, Danny A / Ndiaye, Jean-Louis / Sene, Papa Diogoye / Ahouidi, Ambroise / Dieye, Tandakha N / Gaye, Oumar / Okebe, Joseph / Ceesay, Serign J / Ngwa, Alfred / Oriero, Eniyou C / Konaté, Lassana /
    Sy, Ngayo / Jawara, Musa / Faye, Ousmane / Kéita, Moussa / Cissé, Moussa / Sogoba, Nafomon / Poudiougou, Belco / Diawara, Sory / Sangaré, Lansana / Coulibaly, Tinzana / Seck, Ibrahima / Abubakar, Ismaela / Gomis, Jules / Mather, Frances J / Sissako, Aliou / Diarra, Ayouba / Kandeh, Balla / Whalen, Christopher / Moyer, Brian / Nnedu, Obinna / Thiero, Oumar / Bei, Amy K / Daniels, Rachel / Miura, Kazutoyo / Long, Carole A / Fairhurst, Rick M / Duraisingh, Manoj / Muskavitch, Marc A T / D'Alessandro, Umberto / Conway, David J / Volkman, Sarah K / Valim, Clarissa / Wirth, Dyann F / Krogstad, Donald J

    Acta tropica

    2011  Volume 121, Issue 3, Page(s) 175–183

    Abstract: With the paradigm shift from the reduction of morbidity and mortality to the interruption of transmission, the focus of malaria control broadens from symptomatic infections in children ≤5 years of age to include asymptomatic infections in older children ... ...

    Abstract With the paradigm shift from the reduction of morbidity and mortality to the interruption of transmission, the focus of malaria control broadens from symptomatic infections in children ≤5 years of age to include asymptomatic infections in older children and adults. In addition, as control efforts intensify and the number of interventions increases, there will be decreases in prevalence, incidence and transmission with additional decreases in morbidity and mortality. Expected secondary consequences of these changes include upward shifts in the peak ages for infection (parasitemia) and disease, increases in the ages for acquisition of antiparasite humoral and cellular immune responses and increases in false-negative blood smears and rapid diagnostic tests. Strategies to monitor these changes must include: (1) studies of the entire population (that are not restricted to children ≤5 or ≤10 years of age), (2) study sites in both cities and rural areas (because of increasing urbanization across sub-Saharan Africa) and (3) innovative strategies for surveillance as the prevalence of infection decreases and the frequency of false-negative smears and rapid diagnostic tests increases.
    MeSH term(s) Africa, Western/epidemiology ; Animals ; Anopheles/parasitology ; Antibodies, Protozoan/immunology ; Antimalarials/pharmacology ; Communicable Disease Control/legislation & jurisprudence ; Communicable Disease Control/methods ; Communicable Disease Control/organization & administration ; Disease Transmission, Infectious/prevention & control ; Drug Resistance, Microbial ; Genotype ; Humans ; Immunity, Cellular ; Incidence ; Malaria, Falciparum/epidemiology ; Malaria, Falciparum/immunology ; Malaria, Falciparum/parasitology ; Malaria, Falciparum/prevention & control ; National Health Programs/organization & administration ; Parasitemia/epidemiology ; Parasitemia/immunology ; Parasitemia/parasitology ; Parasitemia/prevention & control ; Plasmodium falciparum/drug effects ; Plasmodium falciparum/genetics ; Plasmodium falciparum/immunology ; Plasmodium falciparum/pathogenicity ; Prevalence ; Seasons ; Sensitivity and Specificity
    Chemical Substances Antibodies, Protozoan ; Antimalarials
    Language English
    Publishing date 2011-11-28
    Publishing country Netherlands
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 210415-5
    ISSN 1873-6254 ; 0001-706X
    ISSN (online) 1873-6254
    ISSN 0001-706X
    DOI 10.1016/j.actatropica.2011.11.009
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Improving malaria control in West Africa: Interruption of transmission as a paradigm shift

    Doumbia, Seydou O / Ndiaye, Daouda / Koita, Ousmane A / Diakité, Mahamadou / Nwakanma, Davis / Coulibaly, Mamadou / Traoré, Sekou F / Keating, Joseph / Milner, Danny A., Jr / Ndiaye, Jean-Louis / Sene, Papa Diogoye / Ahouidi, Ambroise / Dieye, Tandakha N / Gaye, Oumar / Okebe, Joseph / Ceesay, Serign J / Ngwa, Alfred / Oriero, Eniyou C / Konaté, Lassana /
    Sy, Ngayo / Jawara, Musa / Faye, Ousmane / Kéita, Moussa / Cissé, Moussa / Sogoba, Nafomon / Poudiougou, Belco / Diawara, Sory / Sangaré, Lansana / Coulibaly, Tinzana / Seck, Ibrahima / Abubakar, Ismaela / Gomis, Jules / Mather, Frances J / Sissako, Aliou / Diarra, Ayouba / Kandeh, Balla / Whalen, Christopher / Moyer, Brian / Nnedu, Obinna / Thiero, Oumar / Bei, Amy K / Daniels, Rachel / Miura, Kazutoyo / Long, Carole A / Fairhurst, Rick M / Duraisingh, Manoj / Muskavitch, Marc A.T / D’Alessandro, Umberto / Conway, David J / Volkman, Sarah K / Valim, Clarissa / Wirth, Dyann F / Krogstad, Donald J

    Acta tropica. 2012 Mar., v. 121, no. 3

    2012  

    Abstract: With the paradigm shift from the reduction of morbidity and mortality to the interruption of transmission, the focus of malaria control broadens from symptomatic infections in children ≤5 years of age to include asymptomatic infections in older children ... ...

    Abstract With the paradigm shift from the reduction of morbidity and mortality to the interruption of transmission, the focus of malaria control broadens from symptomatic infections in children ≤5 years of age to include asymptomatic infections in older children and adults. In addition, as control efforts intensify and the number of interventions increases, there will be decreases in prevalence, incidence and transmission with additional decreases in morbidity and mortality. Expected secondary consequences of these changes include upward shifts in the peak ages for infection (parasitemia) and disease, increases in the ages for acquisition of antiparasite humoral and cellular immune responses and increases in false-negative blood smears and rapid diagnostic tests. Strategies to monitor these changes must include: (1) studies of the entire population (that are not restricted to children ≤5 or ≤10 years of age), (2) study sites in both cities and rural areas (because of increasing urbanization across sub-Saharan Africa) and (3) innovative strategies for surveillance as the prevalence of infection decreases and the frequency of false-negative smears and rapid diagnostic tests increases.
    Keywords adults ; blood ; children ; cities ; diagnostic techniques ; immune response ; malaria ; monitoring ; morbidity ; mortality ; parasitemia ; rural areas ; urbanization ; Western Africa
    Language English
    Dates of publication 2012-03
    Size p. 175-183.
    Publishing place Elsevier B.V.
    Document type Article
    ZDB-ID 210415-5
    ISSN 1873-6254 ; 0001-706X
    ISSN (online) 1873-6254
    ISSN 0001-706X
    DOI 10.1016/j.actatropica.2011.11.009
    Database NAL-Catalogue (AGRICOLA)

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  6. Article ; Online: Geographical and temporal distribution of SARS-CoV-2 clades in the WHO European Region, January to June 2020

    E., Alm / E. K., Broberg / T., Connor / E. B., Hodcroft / A. B., Komissarov / S., Maurer-Stroh / A., Melidou / R. A., Neher / A., O'Toole / Niko Beerenwinkel, Pereyaslov D. / Posada-Céspedes, Susana / Philipp Jablonski, Kim / Falé Ferreira, Pedro / Topolsky, Ivan / Avšič-Županc, Tatjana / Korva, Miša / Poljak, Mario / Zakotnik, Samo / Mark Zorec, Tomaž /
    Bragstad, Karoline / Hungnes, Olav / Stene-Johansen, Kathrine / Reusken, Chantal / Meijer, Adam / Vennema, Harry / Ruiz-Roldán, Lidia / Alma Bracho, María / García-González, Neris / Chiner-Oms, Álvaro / Cancino-Muñoz, Irving / Comas, Iñaki / A Goig, Galo / Torres-Puente, Manuela / G López, Mariana / Martínez-Priego, Llúcia / D'Auria, Giuseppe / Ferrús-Abad, Loreto / de Marco, Griselda / Galan-Vendrell, Inmaculada / Carbó-Ramirez, Sandra / Ruíz-Hueso, Paula / Coscollá, Mireia / Polackova, Katerina / Kramna, Lenka / Cinek, Ondrej / Richter, Jan / Krashias, George / Tryfonos, Christina / Bashiardes, Stavros / Koptides, Dana / Christodoulou, Christina / Bartolini, Barbara / Em Gruber, Cesare / Di Caro, Antonino / Castilletti, Concetta / Stefani, Fabrizio / Giordana Rimoldi, Sara / Romeri, Francesca / Salerno, Franco / Polesello, Stefano / Nagy, Alexander / Jirincova, Helena / Vecerova, Jaromira / Novakova, Ludmila / Cordey, Samuel / Murtskhvaladze, Marine / Kotaria, Nato / Schär, Tobias / Beisel, Christian / Vugrek, Oliver / Rokić, Filip / Trgovec-Greif, Lovro / Jurak, Igor / Rukavina, Tomislav / Sučić, Neven / Schønning, Kristian / M Karst, Søren / H Kirkegaard, Rasmus / Y Michaelsen, Thomas / Aa Sørensen, Emil / Knutson, Simon / Brandt, Jakob / Le-Quy, Vang / Sørensen, Trine / Petersen, Celine / Schou Pedersen, Martin / Løkkegaard Larsen, Sanne / Nielsine Skov, Marianne / Rasmussen, Morten / Fonager, Jannik / Fomsgaard, Anders / Amirovich Maksyutov, Rinat / Vasil'Evna Gavrilova, Elena / Victorovich Pyankov, Oleg / Alexandrovich Bodnev, Sergey / Vladimirovna Tregubchak, Tatyana / Nikolayevich Shvalov, Alexander / Victorovich Antonets, Denis / Cristina Resende, Paola / Goya, Stephanie / Perrin, Amandine / Tc Lee, Raphael / Yadahalli, Shilpa / X Han, Alvin / A Russell, Colin / Schmutz, Stefan / Zaheri, Maryam / Kufner, Verena / Huber, Michael / Trkola, Alexandra / Antwerpen, Markus / C Walter, Mathias / van der Werf, Sylvie / Gambaro, Fabiana / Behillil, Sylvie / Enouf, Vincent / Donati, Flora / Ustinova, Monta / Rovite, Vita / Klovins, Janis / Savicka, Oksana / K Wienecke-Baldacchino, Anke / Ragimbeau, Catherine / Fournier, Guillaume / Mossong, Joël / W Aberle, Stephan / Haukland, Mattias / Enkirch, Theresa / Advani, Abdolreza / Lind Karlberg, Maria / Karlsson Lindsjö, Oskar / Broddesson, Sandra / Sláviková, Monika / Ličková, Martina / Klempa, Boris / Staroňová, Edita / Tichá, Elena / Szemes, Tomáš / Rusňáková, Diana / Stadler, Tanja / Quer, Josep / Anton, Andres / Andres, Cristina / Piñana, Maria / Garcia-Cehic, Damir / Pumarola, Tomas / Izopet, Jacques / Gioula, Georgia / Exindari, Maria / Papa, Anna / Chatzidimitriou, Dimitrios / Metallidis, Symeon / Pappa, Stella / Macek Jr, Milan / Geryk, Jan / Brož, Petr / Briksí, Aleš / Hubáček, Petr / Dřevínek, Pavel / Zajac, Miroslav / Kvapil, Petr / Holub, Michal / Kvapilová, Kateřina / Novotný, Adam / Kašný, Martin / Klempt, Petr / Vapalahti, Olli / Smura, Teemu / Sironen, Tarja / Selhorst, Philippe / Anthony, Colin / Ariën, Kevin / Simon-Loriere, Etienne / Rabalski, Lukasz / Bienkowska-Szewczyk, Krystyna / Borges, Vítor / Isidro, Joana / Paulo Gomes, João / Guiomar, Raquel / Pechirra, Pedro / Costa, Inês / Duarte, Sílvia / Vieira, Luís / Pyrc, Krzysztof / S Zuckerman, Neta / Turdikulova, Shahlo / Abdullaev, Alisher / Dalimova, Dilbar / Abdurakhimov, Abror / Tagliabracci, Adriano / Alessandrini, Federica / Melchionda, Filomena / Onofri, Valerio / Turchi, Chiara / Bagnarelli, Patrizia / Menzo, Stefano / Caucci, Sara / Di Sante, Laura / Popa, Alexandra / Genger, Jakob-Wendelin / Agerer, Benedikt / Lercher, Alexander / Endler, Lukas / Smyth, Mark / Penz, Thomas / Schuster, Michael / Senekowitsch, Martin / Laine, Jan / Bock, Christoph / Bergthaler, Andreas / Shevtsov, Alexandr / Kalendar, Ruslan / Ramanculov, Yerlan / Graf, Alexander / Muenchhoff, Maximilian / T Keppler, Oliver / Krebs, Stefan / Blum, Helmut / Marcello, Alessandro / Licastro, Danilo / D'Agaro, Pierlanfranco / Laubscher, Florian / Vidanovic, Dejan / Tesovic, Bojana / Volkening, Jeremy / Clementi, Nicola / Mancini, Nicasio / Rupnik, Maja / Mahnic, Aleksander / Walker, Andreas / Houwaart, Torsten / Wienemann, Tobias / Kohns Vasconcelos, Malte / Strelow, Daniel / Ole Jensen, Björn-Erik / Senff, Tina / Hülse, Lisanna / Adams, Ortwin / Andree, Marcel / Hauka, Sandra / Feldt, Torsten / Keitel, Verena / Kindgen-Milles, Detlef / Timm, Jörg / Pfeffer, Klaus / T Dilthey, Alexander / Moore, Catherine / Ozdarendeli, Aykut / Terkis Islam Pavel, Shaikh / Yetiskin, Hazel / Aydin, Gunsu / Holyavkin, Can / Ali Uygut, Muhammet / Cevik, Ceren / Shchetinin, Alexey / Gushchin, Vladimir / Dinler-Doganay, Gizem / Doganay, Levent / Kizilboga-Akgun, Tugba / Karacan, Ilker / Pancer, Katarzyna / Maes, Piet / Martí-Carreras, Joan / Wawina-Bokalanga, Tony / Vanmechelen, Bert / Thürmer, Andrea / Wedde, Marianne / Dürrwald, Ralf / Von Kleist, Max / Drechsel, Oliver / Wolff, Thorsten / Fuchs, Stephan / Kmiecinski, Rene / Michel, Janine / Nitsche, Andreas / Casas, Inmaculada / Iglesias Caballero, María / Zaballos, Ángel / Jiménez, Pilar / Jiménez, Mercedes / Monzón Fernández, Sara / Varona Fernández, Sarai / Cuesta De La Plaza, Isabel / Fadeev, Artem / Ivanova, Anna / Sergeeva, Mariia / Stefanelli, Paola / Estee Torok, M / Hall, Grant / da Silva Filipe, Ana / Turtle, Lance / Afifi, Safiah / Mccluggage, Kathryn / Beer, Robert / Ledesma, Juan / Maksimovic, Joshua / Spellman, Karla / L Hamilton, William / Marchbank, Angela / Alexander Southgate, Joel / Underwood, Anthony / Taylor, Ben / Yeats, Corin / Abudahab, Khalil / R Gemmell, Matthew / Eccles, Richard / Lucaci, Anita / Abigail Nelson, Charlotte / Rainbow, Lucille / Whitehead, Mark / Gregory, Richard / Haldenby, Sam / Paterson, Steve / A Hughes, Margaret / D Curran, Martin / Baker, David / Tucker, Rachel / R Green, Luke / Feltwell, Theresa / D Halstead, Fenella / Wyles, Matthew / S Jahun, Aminu / Y Ahmad, Shazaad S / Georgana, Iliana / Goodfellow, Ian / Yakovleva, Anna / W Meredith, Luke / Gavriil, Artemis / Raza Awan, Ali / Fisher, Chloe / Edgeworth, Jonathan / Lynch, Jessica / Moore, Nathan / Williams, Rebecca / P Kidd, Stephen / Cortes, Nicholas / Brunker, Kirstyn / T Mccrone, John / Quick, Joshua / Duckworth, Nichola / Walsh, Sarah / Sloan, Tim / Ludden, Catherine / P George, Ryan / Eltringham, Gary / R Brown, Julianne / Aranday-Cortes, Elihu / G Shepherd, James / Hughes, Joseph / K Li, Kathy / C Williams, Thomas / Johnson, Natasha / Jesudason, Natasha / Mair, Daniel / Thomson, Emma / Shah, Rajiv / A Parr, Yasmin / Carmichael, Stephen / L Robertson, David / Nomikou, Kyriaki / Broos, Alice / Niebel, Marc / Smollett, Katherine / Tong, Lily / Miah, Shahjahan / Wittner, Anita / Phillips, Nicole / Payne, Brendan / Dewar, Rebecca / Holmes, Alison / Bolt, Frances / R Price, James / Mookerjee, Siddharth / K Sethi, Dheeraj / Potter, Will / Stanley, Rachael / Prakash, Reenesh / Dervisevic, Samir / Clive Graham, Jonathan / Nelson, Andrew / Smith, Darren / R Young, Gregory / Chyin Yew, Wen / A Todd, John / Trebes, Amy / Andersson, Monique / Bull, Matthew / Watkins, Joanne / Birchley, Alec / Gatica-Wilcox, Bree / Gilbert, Lauren / Kumžiene-Summerhayes, Sara / Rey, Sara / Chauhan, Anoop / Butcher, Ethan / Bicknell, Kelly / Elliott, Scott / Glaysher, Sharon / Lackenby, Angie / Bibby, David / Platt, Steven / Mohamed, Hodan / William Machin, Nicholas / Lutamyo Mbisa, Jean / Evans, Jonathan / Perry, Malorie / Pacchiarini, Nicole / Corden, Sally / Geraint Adams, Alexander / Gaskin, Amy / Coombs, Jason / John Graham, Lee / Cottrell, Simon / Morgan, Mari / Gifford, Laura / Kolyva, Anastasia / John Rudder, Steven / J Trotter, Alexander / E Mather, Alison / Aydin, Alp / J Page, Andrew / L Kay, Gemma / de Oliveira Martins, Leonardo / Yasir, Muhammad / Alikhan, Nabil-Fareed / M Thomson, Nicholas / Gilroy, Rachel / A Kingsley, Robert / O'Grady, Justin / Victoria Gutierrez, Ana / Diaz, Maria / Le Viet, Thanh / P Tedim, Ana / M Adriaenssens, Evelien / Patrick Mcclure, C / Moore, Christopher / Sang, Fei / Clark, Gemma / C Howson-Wells, Hannah / Debebe, Johnny / Ball, Jonathan / Chappell, Joseph / Khakh, Manjinder / Carlile, Matthew / Loose, Matthew / M Lister, Michelle / Holmes, Nadine / Tsoleridis, Theocharis / M Fleming, Vicki / Wright, Victoria / Smith, Wendy / D Gallagher, Michael / Parker, Matthew / G Partridge, David / Evans, Cariad / Baker, Paul / Essex, Sarah / Liggett, Steven / J Keeley, Alexander / Bashton, Matthew / Rooke, Stefan / Jane Meader, Emma / Enrique Balcazar Lopez, Carlos / Angyal, Adrienn / Kristiansen, Mark / J Tutill, Helena / Findlay, Jacqueline / Mestek-Boukhibar, Lamia / Forrest, Leysa / Dyal, Patricia / J Williams, Rachel / Panchbhaya, Yasmin / A Williams, Charlotte / Roy, Sunando / Pandey, Sarojini / Stockton, Jo / J Loman, Nicholas / Poplawski, Radoslaw / Nicholls, Samuel / M Rowe, W P / Khokhar, Fahad / Lars Pinckert, Malte / Hosmillo, Myra / Chaudhry, Yasmin / G Caller, Laura / K Davidson, Rose / Griffith, Luke / Rambaut, Andrew / Jackson, Ben / Colquhoun, Rachel / Hill, Verity / Nichols, Jenna / Asamaphan, Patawee / Darby, Alistair / A Jackson, Kathryn / Iturriza-Gomara, Miren / Edith Vamos, Ecaterina / Green, Angie / Aanensen, David / Bonsall, David / Buck, David / Macintyre-Cockett, George / de Cesare, Mariateresa / Pybus, Oliver / Golubchik, Tanya / Scarlett, Garry / F Loveson, Katie / C Robson, Samuel / Beckett, Angela / Lindsey, Benjamin / C Groves, Danielle / J Parsons, Paul / P Mchugh, Martin / Daniel Barnes, James / F Manso, Carmen / Grammatopoulos, Dimitris / Elisabeth Menger, Katja / Harrison, Ewan / Gunson, Rory / J Peacock, Sharon / Gonzalez, Gabriel / Carr, Michael / Mihaela, Lazar / Popovici, Odette / Brytting, Mia / Bresner, Catherine / Fuller, William / Workman, Trudy / F Mentis, Andreas / Kossyvakis, Athanasios / Karamitros, Timokratis / Pogka, Vasiliki / Kalliaropoulos, Antonios / Horefti, Elina / Kontou, Aspasia / Martinez-Gonzalez, Beatriz / Labropoulou, Voula / Voulgari-Kokota, Androniki / Evangelidou, Maria / Bizta, Panagiota / Belimezi, Maria / Lambrechts, Laurens / Z Doymaz, Mehmet / Kalkan Yazici, Merve / S Cetin, Nesibe / Karaaslan, Elif / Kallio-Kokko, Hannimari / Virtanen, Jenni / Suvanto, Maija / Truong Nguyen, Phuoc / Ellonen, Pekka / Hannula, Sari / Kangas, Harri / B Sreenu, Vattipally / Burián, Katalin / Terhes, Gabriella / Gombos, Katalin / Gyenesei, Attila / Urbán, Péter / Herczeg, Róbert / Jakab, Ferenc / Kemenesi, Gábor / Endre Tóth, Gábor / Somogyi, Balázs / Zana, Brigitta / Zeghbib, Safia / Kuczmog, Anett / Földes, Fanni / Lanszki, Zsófia / Madai, Mónika / Papp, Henrietta / Nagy, Ágnes / István Pereszlényi, Csaba / Csaba Babinszky, Gergely / Dudás, Gábor / Csoma, Eszter / N Abou Tayoun, Ahmad / A Alsheikh-Ali, Alawi / Loney, Tom / Nowotny, Norbert / Abdul-Wahab, Osama / Gonzalez-Candelas, Fernando / H Andersen, Martin / Sarah Taylor, And

    2020  

    Abstract: We show the distribution of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) genetic clades over time and between countries and outline potential genomic surveillance objectives. We applied three genomic nomenclature systems to all sequence ... ...

    Abstract We show the distribution of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) genetic clades over time and between countries and outline potential genomic surveillance objectives. We applied three genomic nomenclature systems to all sequence data from the World Health Organization European Region available until 10 July 2020. We highlight the importance of real-time sequencing and data dissemination in a pandemic situation, compare the nomenclatures and lay a foundation for future European genomic surveillance of SARS-CoV-2.
    Keywords COVID-19 ; Europe ; NGS ; nomenclature ; SARS-CoV-2 ; sequencing ; WGS ; Base Sequence ; Betacoronavirus ; Coronavirus ; Coronavirus Infections ; Genome ; Viral ; Humans ; Phylogeography ; Pneumonia ; RNA Replicase ; RNA ; Severe Acute Respiratory Syndrome ; Spatio-Temporal Analysis ; World Health Organization ; Pandemics ; covid19
    Language English
    Publishing country it
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  7. Article ; Online: Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores.

    de Rojas, Itziar / Moreno-Grau, Sonia / Tesi, Niccolo / Grenier-Boley, Benjamin / Andrade, Victor / Jansen, Iris E / Pedersen, Nancy L / Stringa, Najada / Zettergren, Anna / Hernández, Isabel / Montrreal, Laura / Antúnez, Carmen / Antonell, Anna / Tankard, Rick M / Bis, Joshua C / Sims, Rebecca / Bellenguez, Céline / Quintela, Inés / González-Perez, Antonio /
    Calero, Miguel / Franco-Macías, Emilio / Macías, Juan / Blesa, Rafael / Cervera-Carles, Laura / Menéndez-González, Manuel / Frank-García, Ana / Royo, Jose Luís / Moreno, Fermin / Huerto Vilas, Raquel / Baquero, Miquel / Diez-Fairen, Mónica / Lage, Carmen / García-Madrona, Sebastián / García-González, Pablo / Alarcón-Martín, Emilio / Valero, Sergi / Sotolongo-Grau, Oscar / Ullgren, Abbe / Naj, Adam C / Lemstra, Afina W / Benaque, Alba / Pérez-Cordón, Alba / Benussi, Alberto / Rábano, Alberto / Padovani, Alessandro / Squassina, Alessio / de Mendonça, Alexandre / Arias Pastor, Alfonso / Kok, Almar A L / Meggy, Alun / Pastor, Ana Belén / Espinosa, Ana / Corma-Gómez, Anaïs / Martín Montes, Angel / Sanabria, Ángela / DeStefano, Anita L / Schneider, Anja / Haapasalo, Annakaisa / Kinhult Ståhlbom, Anne / Tybjærg-Hansen, Anne / Hartmann, Annette M / Spottke, Annika / Corbatón-Anchuelo, Arturo / Rongve, Arvid / Borroni, Barbara / Arosio, Beatrice / Nacmias, Benedetta / Nordestgaard, Børge G / Kunkle, Brian W / Charbonnier, Camille / Abdelnour, Carla / Masullo, Carlo / Martínez Rodríguez, Carmen / Muñoz-Fernandez, Carmen / Dufouil, Carole / Graff, Caroline / Ferreira, Catarina B / Chillotti, Caterina / Reynolds, Chandra A / Fenoglio, Chiara / Van Broeckhoven, Christine / Clark, Christopher / Pisanu, Claudia / Satizabal, Claudia L / Holmes, Clive / Buiza-Rueda, Dolores / Aarsland, Dag / Rujescu, Dan / Alcolea, Daniel / Galimberti, Daniela / Wallon, David / Seripa, Davide / Grünblatt, Edna / Dardiotis, Efthimios / Düzel, Emrah / Scarpini, Elio / Conti, Elisa / Rubino, Elisa / Gelpi, Ellen / Rodriguez-Rodriguez, Eloy / Duron, Emmanuelle / Boerwinkle, Eric / Ferri, Evelyn / Tagliavini, Fabrizio / Küçükali, Fahri / Pasquier, Florence / Sanchez-Garcia, Florentino / Mangialasche, Francesca / Jessen, Frank / Nicolas, Gaël / Selbæk, Geir / Ortega, Gemma / Chêne, Geneviève / Hadjigeorgiou, Georgios / Rossi, Giacomina / Spalletta, Gianfranco / Giaccone, Giorgio / Grande, Giulia / Binetti, Giuliano / Papenberg, Goran / Hampel, Harald / Bailly, Henri / Zetterberg, Henrik / Soininen, Hilkka / Karlsson, Ida K / Alvarez, Ignacio / Appollonio, Ildebrando / Giegling, Ina / Skoog, Ingmar / Saltvedt, Ingvild / Rainero, Innocenzo / Rosas Allende, Irene / Hort, Jakub / Diehl-Schmid, Janine / Van Dongen, Jasper / Vidal, Jean-Sebastien / Lehtisalo, Jenni / Wiltfang, Jens / Thomassen, Jesper Qvist / Kornhuber, Johannes / Haines, Jonathan L / Vogelgsang, Jonathan / Pineda, Juan A / Fortea, Juan / Popp, Julius / Deckert, Jürgen / Buerger, Katharina / Morgan, Kevin / Fließbach, Klaus / Sleegers, Kristel / Molina-Porcel, Laura / Kilander, Lena / Weinhold, Leonie / Farrer, Lindsay A / Wang, Li-San / Kleineidam, Luca / Farotti, Lucia / Parnetti, Lucilla / Tremolizzo, Lucio / Hausner, Lucrezia / Benussi, Luisa / Froelich, Lutz / Ikram, M Arfan / Deniz-Naranjo, M Candida / Tsolaki, Magda / Rosende-Roca, Maitée / Löwenmark, Malin / Hulsman, Marc / Spallazzi, Marco / Pericak-Vance, Margaret A / Esiri, Margaret / Bernal Sánchez-Arjona, María / Dalmasso, Maria Carolina / Martínez-Larrad, María Teresa / Arcaro, Marina / Nöthen, Markus M / Fernández-Fuertes, Marta / Dichgans, Martin / Ingelsson, Martin / Herrmann, Martin J / Scherer, Martin / Vyhnalek, Martin / Kosmidis, Mary H / Yannakoulia, Mary / Schmid, Matthias / Ewers, Michael / Heneka, Michael T / Wagner, Michael / Scamosci, Michela / Kivipelto, Miia / Hiltunen, Mikko / Zulaica, Miren / Alegret, Montserrat / Fornage, Myriam / Roberto, Natalia / van Schoor, Natasja M / Seidu, Nazib M / Banaj, Nerisa / Armstrong, Nicola J / Scarmeas, Nikolaos / Scherbaum, Norbert / Goldhardt, Oliver / Hanon, Oliver / Peters, Oliver / Skrobot, Olivia Anna / Quenez, Olivier / Lerch, Ondrej / Bossù, Paola / Caffarra, Paolo / Dionigi Rossi, Paolo / Sakka, Paraskevi / Mecocci, Patrizia / Hoffmann, Per / Holmans, Peter A / Fischer, Peter / Riederer, Peter / Yang, Qiong / Marshall, Rachel / Kalaria, Rajesh N / Mayeux, Richard / Vandenberghe, Rik / Cecchetti, Roberta / Ghidoni, Roberta / Frikke-Schmidt, Ruth / Sorbi, Sandro / Hägg, Sara / Engelborghs, Sebastiaan / Helisalmi, Seppo / Botne Sando, Sigrid / Kern, Silke / Archetti, Silvana / Boschi, Silvia / Fostinelli, Silvia / Gil, Silvia / Mendoza, Silvia / Mead, Simon / Ciccone, Simona / Djurovic, Srdjan / Heilmann-Heimbach, Stefanie / Riedel-Heller, Steffi / Kuulasmaa, Teemu / Del Ser, Teodoro / Lebouvier, Thibaud / Polak, Thomas / Ngandu, Tiia / Grimmer, Timo / Bessi, Valentina / Escott-Price, Valentina / Giedraitis, Vilmantas / Deramecourt, Vincent / Maier, Wolfgang / Jian, Xueqiu / Pijnenburg, Yolande A L / Kehoe, Patrick Gavin / Garcia-Ribas, Guillermo / Sánchez-Juan, Pascual / Pastor, Pau / Pérez-Tur, Jordi / Piñol-Ripoll, Gerard / Lopez de Munain, Adolfo / García-Alberca, Jose María / Bullido, María J / Álvarez, Victoria / Lleó, Alberto / Real, Luis M / Mir, Pablo / Medina, Miguel / Scheltens, Philip / Holstege, Henne / Marquié, Marta / Sáez, María Eugenia / Carracedo, Ángel / Amouyel, Philippe / Schellenberg, Gerard D / Williams, Julie / Seshadri, Sudha / van Duijn, Cornelia M / Mather, Karen A / Sánchez-Valle, Raquel / Serrano-Ríos, Manuel / Orellana, Adelina / Tárraga, Lluís / Blennow, Kaj / Huisman, Martijn / Andreassen, Ole A / Posthuma, Danielle / Clarimón, Jordi / Boada, Mercè / van der Flier, Wiesje M / Ramirez, Alfredo / Lambert, Jean-Charles / van der Lee, Sven J / Ruiz, Agustín

    Nature communications

    2023  Volume 14, Issue 1, Page(s) 716

    Language English
    Publishing date 2023-02-09
    Publishing country England
    Document type Published Erratum
    ZDB-ID 2553671-0
    ISSN 2041-1723 ; 2041-1723
    ISSN (online) 2041-1723
    ISSN 2041-1723
    DOI 10.1038/s41467-023-36192-x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: New insights into the genetic etiology of Alzheimer's disease and related dementias.

    Bellenguez, Céline / Küçükali, Fahri / Jansen, Iris E / Kleineidam, Luca / Moreno-Grau, Sonia / Amin, Najaf / Naj, Adam C / Campos-Martin, Rafael / Grenier-Boley, Benjamin / Andrade, Victor / Holmans, Peter A / Boland, Anne / Damotte, Vincent / van der Lee, Sven J / Costa, Marcos R / Kuulasmaa, Teemu / Yang, Qiong / de Rojas, Itziar / Bis, Joshua C /
    Yaqub, Amber / Prokic, Ivana / Chapuis, Julien / Ahmad, Shahzad / Giedraitis, Vilmantas / Aarsland, Dag / Garcia-Gonzalez, Pablo / Abdelnour, Carla / Alarcón-Martín, Emilio / Alcolea, Daniel / Alegret, Montserrat / Alvarez, Ignacio / Álvarez, Victoria / Armstrong, Nicola J / Tsolaki, Anthoula / Antúnez, Carmen / Appollonio, Ildebrando / Arcaro, Marina / Archetti, Silvana / Pastor, Alfonso Arias / Arosio, Beatrice / Athanasiu, Lavinia / Bailly, Henri / Banaj, Nerisa / Baquero, Miquel / Barral, Sandra / Beiser, Alexa / Pastor, Ana Belén / Below, Jennifer E / Benchek, Penelope / Benussi, Luisa / Berr, Claudine / Besse, Céline / Bessi, Valentina / Binetti, Giuliano / Bizarro, Alessandra / Blesa, Rafael / Boada, Mercè / Boerwinkle, Eric / Borroni, Barbara / Boschi, Silvia / Bossù, Paola / Bråthen, Geir / Bressler, Jan / Bresner, Catherine / Brodaty, Henry / Brookes, Keeley J / Brusco, Luis Ignacio / Buiza-Rueda, Dolores / Bûrger, Katharina / Burholt, Vanessa / Bush, William S / Calero, Miguel / Cantwell, Laura B / Chene, Geneviève / Chung, Jaeyoon / Cuccaro, Michael L / Carracedo, Ángel / Cecchetti, Roberta / Cervera-Carles, Laura / Charbonnier, Camille / Chen, Hung-Hsin / Chillotti, Caterina / Ciccone, Simona / Claassen, Jurgen A H R / Clark, Christopher / Conti, Elisa / Corma-Gómez, Anaïs / Costantini, Emanuele / Custodero, Carlo / Daian, Delphine / Dalmasso, Maria Carolina / Daniele, Antonio / Dardiotis, Efthimios / Dartigues, Jean-François / de Deyn, Peter Paul / de Paiva Lopes, Katia / de Witte, Lot D / Debette, Stéphanie / Deckert, Jürgen / Del Ser, Teodoro / Denning, Nicola / DeStefano, Anita / Dichgans, Martin / Diehl-Schmid, Janine / Diez-Fairen, Mónica / Rossi, Paolo Dionigi / Djurovic, Srdjan / Duron, Emmanuelle / Düzel, Emrah / Dufouil, Carole / Eiriksdottir, Gudny / Engelborghs, Sebastiaan / Escott-Price, Valentina / Espinosa, Ana / Ewers, Michael / Faber, Kelley M / Fabrizio, Tagliavini / Nielsen, Sune Fallgaard / Fardo, David W / Farotti, Lucia / Fenoglio, Chiara / Fernández-Fuertes, Marta / Ferrari, Raffaele / Ferreira, Catarina B / Ferri, Evelyn / Fin, Bertrand / Fischer, Peter / Fladby, Tormod / Fließbach, Klaus / Fongang, Bernard / Fornage, Myriam / Fortea, Juan / Foroud, Tatiana M / Fostinelli, Silvia / Fox, Nick C / Franco-Macías, Emlio / Bullido, María J / Frank-García, Ana / Froelich, Lutz / Fulton-Howard, Brian / Galimberti, Daniela / García-Alberca, Jose Maria / García-González, Pablo / Garcia-Madrona, Sebastian / Garcia-Ribas, Guillermo / Ghidoni, Roberta / Giegling, Ina / Giorgio, Giaccone / Goate, Alison M / Goldhardt, Oliver / Gomez-Fonseca, Duber / González-Pérez, Antonio / Graff, Caroline / Grande, Giulia / Green, Emma / Grimmer, Timo / Grünblatt, Edna / Grunin, Michelle / Gudnason, Vilmundur / Guetta-Baranes, Tamar / Haapasalo, Annakaisa / Hadjigeorgiou, Georgios / Haines, Jonathan L / Hamilton-Nelson, Kara L / Hampel, Harald / Hanon, Olivier / Hardy, John / Hartmann, Annette M / Hausner, Lucrezia / Harwood, Janet / Heilmann-Heimbach, Stefanie / Helisalmi, Seppo / Heneka, Michael T / Hernández, Isabel / Herrmann, Martin J / Hoffmann, Per / Holmes, Clive / Holstege, Henne / Vilas, Raquel Huerto / Hulsman, Marc / Humphrey, Jack / Biessels, Geert Jan / Jian, Xueqiu / Johansson, Charlotte / Jun, Gyungah R / Kastumata, Yuriko / Kauwe, John / Kehoe, Patrick G / Kilander, Lena / Ståhlbom, Anne Kinhult / Kivipelto, Miia / Koivisto, Anne / Kornhuber, Johannes / Kosmidis, Mary H / Kukull, Walter A / Kuksa, Pavel P / Kunkle, Brian W / Kuzma, Amanda B / Lage, Carmen / Laukka, Erika J / Launer, Lenore / Lauria, Alessandra / Lee, Chien-Yueh / Lehtisalo, Jenni / Lerch, Ondrej / Lleó, Alberto / Longstreth, William / Lopez, Oscar / de Munain, Adolfo Lopez / Love, Seth / Löwemark, Malin / Luckcuck, Lauren / Lunetta, Kathryn L / Ma, Yiyi / Macías, Juan / MacLeod, Catherine A / Maier, Wolfgang / Mangialasche, Francesca / Spallazzi, Marco / Marquié, Marta / Marshall, Rachel / Martin, Eden R / Montes, Angel Martín / Rodríguez, Carmen Martínez / Masullo, Carlo / Mayeux, Richard / Mead, Simon / Mecocci, Patrizia / Medina, Miguel / Meggy, Alun / Mehrabian, Shima / Mendoza, Silvia / Menéndez-González, Manuel / Mir, Pablo / Moebus, Susanne / Mol, Merel / Molina-Porcel, Laura / Montrreal, Laura / Morelli, Laura / Moreno, Fermin / Morgan, Kevin / Mosley, Thomas / Nöthen, Markus M / Muchnik, Carolina / Mukherjee, Shubhabrata / Nacmias, Benedetta / Ngandu, Tiia / Nicolas, Gael / Nordestgaard, Børge G / Olaso, Robert / Orellana, Adelina / Orsini, Michela / Ortega, Gemma / Padovani, Alessandro / Paolo, Caffarra / Papenberg, Goran / Parnetti, Lucilla / Pasquier, Florence / Pastor, Pau / Peloso, Gina / Pérez-Cordón, Alba / Pérez-Tur, Jordi / Pericard, Pierre / Peters, Oliver / Pijnenburg, Yolande A L / Pineda, Juan A / Piñol-Ripoll, Gerard / Pisanu, Claudia / Polak, Thomas / Popp, Julius / Posthuma, Danielle / Priller, Josef / Puerta, Raquel / Quenez, Olivier / Quintela, Inés / Thomassen, Jesper Qvist / Rábano, Alberto / Rainero, Innocenzo / Rajabli, Farid / Ramakers, Inez / Real, Luis M / Reinders, Marcel J T / Reitz, Christiane / Reyes-Dumeyer, Dolly / Ridge, Perry / Riedel-Heller, Steffi / Riederer, Peter / Roberto, Natalia / Rodriguez-Rodriguez, Eloy / Rongve, Arvid / Allende, Irene Rosas / Rosende-Roca, Maitée / Royo, Jose Luis / Rubino, Elisa / Rujescu, Dan / Sáez, María Eugenia / Sakka, Paraskevi / Saltvedt, Ingvild / Sanabria, Ángela / Sánchez-Arjona, María Bernal / Sanchez-Garcia, Florentino / Juan, Pascual Sánchez / Sánchez-Valle, Raquel / Sando, Sigrid B / Sarnowski, Chloé / Satizabal, Claudia L / Scamosci, Michela / Scarmeas, Nikolaos / Scarpini, Elio / Scheltens, Philip / Scherbaum, Norbert / Scherer, Martin / Schmid, Matthias / Schneider, Anja / Schott, Jonathan M / Selbæk, Geir / Seripa, Davide / Serrano, Manuel / Sha, Jin / Shadrin, Alexey A / Skrobot, Olivia / Slifer, Susan / Snijders, Gijsje J L / Soininen, Hilkka / Solfrizzi, Vincenzo / Solomon, Alina / Song, Yeunjoo / Sorbi, Sandro / Sotolongo-Grau, Oscar / Spalletta, Gianfranco / Spottke, Annika / Squassina, Alessio / Stordal, Eystein / Tartan, Juan Pablo / Tárraga, Lluís / Tesí, Niccolo / Thalamuthu, Anbupalam / Thomas, Tegos / Tosto, Giuseppe / Traykov, Latchezar / Tremolizzo, Lucio / Tybjærg-Hansen, Anne / Uitterlinden, Andre / Ullgren, Abbe / Ulstein, Ingun / Valero, Sergi / Valladares, Otto / Broeckhoven, Christine Van / Vance, Jeffery / Vardarajan, Badri N / van der Lugt, Aad / Dongen, Jasper Van / van Rooij, Jeroen / van Swieten, John / Vandenberghe, Rik / Verhey, Frans / Vidal, Jean-Sébastien / Vogelgsang, Jonathan / Vyhnalek, Martin / Wagner, Michael / Wallon, David / Wang, Li-San / Wang, Ruiqi / Weinhold, Leonie / Wiltfang, Jens / Windle, Gill / Woods, Bob / Yannakoulia, Mary / Zare, Habil / Zhao, Yi / Zhang, Xiaoling / Zhu, Congcong / Zulaica, Miren / Farrer, Lindsay A / Psaty, Bruce M / Ghanbari, Mohsen / Raj, Towfique / Sachdev, Perminder / Mather, Karen / Jessen, Frank / Ikram, M Arfan / de Mendonça, Alexandre / Hort, Jakub / Tsolaki, Magda / Pericak-Vance, Margaret A / Amouyel, Philippe / Williams, Julie / Frikke-Schmidt, Ruth / Clarimon, Jordi / Deleuze, Jean-François / Rossi, Giacomina / Seshadri, Sudha / Andreassen, Ole A / Ingelsson, Martin / Hiltunen, Mikko / Sleegers, Kristel / Schellenberg, Gerard D / van Duijn, Cornelia M / Sims, Rebecca / van der Flier, Wiesje M / Ruiz, Agustín / Ramirez, Alfredo / Lambert, Jean-Charles

    Nature genetics

    2022  Volume 54, Issue 4, Page(s) 412–436

    Abstract: Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association ... ...

    Abstract Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele.
    MeSH term(s) Alzheimer Disease/genetics ; Alzheimer Disease/pathology ; Cognitive Dysfunction/psychology ; Genome-Wide Association Study ; Humans ; tau Proteins/genetics
    Chemical Substances tau Proteins
    Language English
    Publishing date 2022-04-04
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S. ; Research Support, N.I.H., Extramural
    ZDB-ID 1108734-1
    ISSN 1546-1718 ; 1061-4036
    ISSN (online) 1546-1718
    ISSN 1061-4036
    DOI 10.1038/s41588-022-01024-z
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  9. Article ; Online: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores.

    de Rojas, Itziar / Moreno-Grau, Sonia / Tesi, Niccolo / Grenier-Boley, Benjamin / Andrade, Victor / Jansen, Iris E / Pedersen, Nancy L / Stringa, Najada / Zettergren, Anna / Hernández, Isabel / Montrreal, Laura / Antúnez, Carmen / Antonell, Anna / Tankard, Rick M / Bis, Joshua C / Sims, Rebecca / Bellenguez, Céline / Quintela, Inés / González-Perez, Antonio /
    Calero, Miguel / Franco-Macías, Emilio / Macías, Juan / Blesa, Rafael / Cervera-Carles, Laura / Menéndez-González, Manuel / Frank-García, Ana / Royo, Jose Luís / Moreno, Fermin / Huerto Vilas, Raquel / Baquero, Miquel / Diez-Fairen, Mónica / Lage, Carmen / García-Madrona, Sebastián / García-González, Pablo / Alarcón-Martín, Emilio / Valero, Sergi / Sotolongo-Grau, Oscar / Ullgren, Abbe / Naj, Adam C / Lemstra, Afina W / Benaque, Alba / Pérez-Cordón, Alba / Benussi, Alberto / Rábano, Alberto / Padovani, Alessandro / Squassina, Alessio / de Mendonça, Alexandre / Arias Pastor, Alfonso / Kok, Almar A L / Meggy, Alun / Pastor, Ana Belén / Espinosa, Ana / Corma-Gómez, Anaïs / Martín Montes, Angel / Sanabria, Ángela / DeStefano, Anita L / Schneider, Anja / Haapasalo, Annakaisa / Kinhult Ståhlbom, Anne / Tybjærg-Hansen, Anne / Hartmann, Annette M / Spottke, Annika / Corbatón-Anchuelo, Arturo / Rongve, Arvid / Borroni, Barbara / Arosio, Beatrice / Nacmias, Benedetta / Nordestgaard, Børge G / Kunkle, Brian W / Charbonnier, Camille / Abdelnour, Carla / Masullo, Carlo / Martínez Rodríguez, Carmen / Muñoz-Fernandez, Carmen / Dufouil, Carole / Graff, Caroline / Ferreira, Catarina B / Chillotti, Caterina / Reynolds, Chandra A / Fenoglio, Chiara / Van Broeckhoven, Christine / Clark, Christopher / Pisanu, Claudia / Satizabal, Claudia L / Holmes, Clive / Buiza-Rueda, Dolores / Aarsland, Dag / Rujescu, Dan / Alcolea, Daniel / Galimberti, Daniela / Wallon, David / Seripa, Davide / Grünblatt, Edna / Dardiotis, Efthimios / Düzel, Emrah / Scarpini, Elio / Conti, Elisa / Rubino, Elisa / Gelpi, Ellen / Rodriguez-Rodriguez, Eloy / Duron, Emmanuelle / Boerwinkle, Eric / Ferri, Evelyn / Tagliavini, Fabrizio / Küçükali, Fahri / Pasquier, Florence / Sanchez-Garcia, Florentino / Mangialasche, Francesca / Jessen, Frank / Nicolas, Gaël / Selbæk, Geir / Ortega, Gemma / Chêne, Geneviève / Hadjigeorgiou, Georgios / Rossi, Giacomina / Spalletta, Gianfranco / Giaccone, Giorgio / Grande, Giulia / Binetti, Giuliano / Papenberg, Goran / Hampel, Harald / Bailly, Henri / Zetterberg, Henrik / Soininen, Hilkka / Karlsson, Ida K / Alvarez, Ignacio / Appollonio, Ildebrando / Giegling, Ina / Skoog, Ingmar / Saltvedt, Ingvild / Rainero, Innocenzo / Rosas Allende, Irene / Hort, Jakub / Diehl-Schmid, Janine / Van Dongen, Jasper / Vidal, Jean-Sebastien / Lehtisalo, Jenni / Wiltfang, Jens / Thomassen, Jesper Qvist / Kornhuber, Johannes / Haines, Jonathan L / Vogelgsang, Jonathan / Pineda, Juan A / Fortea, Juan / Popp, Julius / Deckert, Jürgen / Buerger, Katharina / Morgan, Kevin / Fließbach, Klaus / Sleegers, Kristel / Molina-Porcel, Laura / Kilander, Lena / Weinhold, Leonie / Farrer, Lindsay A / Wang, Li-San / Kleineidam, Luca / Farotti, Lucia / Parnetti, Lucilla / Tremolizzo, Lucio / Hausner, Lucrezia / Benussi, Luisa / Froelich, Lutz / Ikram, M Arfan / Deniz-Naranjo, M Candida / Tsolaki, Magda / Rosende-Roca, Maitée / Löwenmark, Malin / Hulsman, Marc / Spallazzi, Marco / Pericak-Vance, Margaret A / Esiri, Margaret / Bernal Sánchez-Arjona, María / Dalmasso, Maria Carolina / Martínez-Larrad, María Teresa / Arcaro, Marina / Nöthen, Markus M / Fernández-Fuertes, Marta / Dichgans, Martin / Ingelsson, Martin / Herrmann, Martin J / Scherer, Martin / Vyhnalek, Martin / Kosmidis, Mary H / Yannakoulia, Mary / Schmid, Matthias / Ewers, Michael / Heneka, Michael T / Wagner, Michael / Scamosci, Michela / Kivipelto, Miia / Hiltunen, Mikko / Zulaica, Miren / Alegret, Montserrat / Fornage, Myriam / Roberto, Natalia / van Schoor, Natasja M / Seidu, Nazib M / Banaj, Nerisa / Armstrong, Nicola J / Scarmeas, Nikolaos / Scherbaum, Norbert / Goldhardt, Oliver / Hanon, Oliver / Peters, Oliver / Skrobot, Olivia Anna / Quenez, Olivier / Lerch, Ondrej / Bossù, Paola / Caffarra, Paolo / Dionigi Rossi, Paolo / Sakka, Paraskevi / Mecocci, Patrizia / Hoffmann, Per / Holmans, Peter A / Fischer, Peter / Riederer, Peter / Yang, Qiong / Marshall, Rachel / Kalaria, Rajesh N / Mayeux, Richard / Vandenberghe, Rik / Cecchetti, Roberta / Ghidoni, Roberta / Frikke-Schmidt, Ruth / Sorbi, Sandro / Hägg, Sara / Engelborghs, Sebastiaan / Helisalmi, Seppo / Botne Sando, Sigrid / Kern, Silke / Archetti, Silvana / Boschi, Silvia / Fostinelli, Silvia / Gil, Silvia / Mendoza, Silvia / Mead, Simon / Ciccone, Simona / Djurovic, Srdjan / Heilmann-Heimbach, Stefanie / Riedel-Heller, Steffi / Kuulasmaa, Teemu / Del Ser, Teodoro / Lebouvier, Thibaud / Polak, Thomas / Ngandu, Tiia / Grimmer, Timo / Bessi, Valentina / Escott-Price, Valentina / Giedraitis, Vilmantas / Deramecourt, Vincent / Maier, Wolfgang / Jian, Xueqiu / Pijnenburg, Yolande A L / Kehoe, Patrick Gavin / Garcia-Ribas, Guillermo / Sánchez-Juan, Pascual / Pastor, Pau / Pérez-Tur, Jordi / Piñol-Ripoll, Gerard / Lopez de Munain, Adolfo / García-Alberca, Jose María / Bullido, María J / Álvarez, Victoria / Lleó, Alberto / Real, Luis M / Mir, Pablo / Medina, Miguel / Scheltens, Philip / Holstege, Henne / Marquié, Marta / Sáez, María Eugenia / Carracedo, Ángel / Amouyel, Philippe / Schellenberg, Gerard D / Williams, Julie / Seshadri, Sudha / van Duijn, Cornelia M / Mather, Karen A / Sánchez-Valle, Raquel / Serrano-Ríos, Manuel / Orellana, Adelina / Tárraga, Lluís / Blennow, Kaj / Huisman, Martijn / Andreassen, Ole A / Posthuma, Danielle / Clarimón, Jordi / Boada, Mercè / van der Flier, Wiesje M / Ramirez, Alfredo / Lambert, Jean-Charles / van der Lee, Sven J / Ruiz, Agustín

    Nature communications

    2021  Volume 12, Issue 1, Page(s) 3417

    Abstract: Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large ...

    Abstract Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer's disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer's disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer's disease.
    MeSH term(s) Age of Onset ; Aged ; Aged, 80 and over ; Alzheimer Disease/epidemiology ; Alzheimer Disease/genetics ; Alzheimer Disease/pathology ; Amyloid beta-Protein Precursor/genetics ; Amyloid beta-Protein Precursor/metabolism ; Apolipoproteins E/genetics ; Case-Control Studies ; Cohort Studies ; Datasets as Topic ; Female ; Follow-Up Studies ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Heterozygote ; Humans ; Male ; Middle Aged ; Multifactorial Inheritance ; Polymorphism, Single Nucleotide ; Risk Assessment/methods ; Risk Factors
    Chemical Substances APP protein, human ; Amyloid beta-Protein Precursor ; Apolipoproteins E
    Language English
    Publishing date 2021-06-07
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Validation Study
    ZDB-ID 2553671-0
    ISSN 2041-1723 ; 2041-1723
    ISSN (online) 2041-1723
    ISSN 2041-1723
    DOI 10.1038/s41467-021-22491-8
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Genome-wide studies of verbal declarative memory in nondemented older people: the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium.

    Debette, Stéphanie / Ibrahim Verbaas, Carla A / Bressler, Jan / Schuur, Maaike / Smith, Albert / Bis, Joshua C / Davies, Gail / Wolf, Christiane / Gudnason, Vilmundur / Chibnik, Lori B / Yang, Qiong / deStefano, Anita L / de Quervain, Dominique J F / Srikanth, Velandai / Lahti, Jari / Grabe, Hans J / Smith, Jennifer A / Priebe, Lutz / Yu, Lei /
    Karbalai, Nazanin / Hayward, Caroline / Wilson, James F / Campbell, Harry / Petrovic, Katja / Fornage, Myriam / Chauhan, Ganesh / Yeo, Robin / Boxall, Ruth / Becker, James / Stegle, Oliver / Mather, Karen A / Chouraki, Vincent / Sun, Qi / Rose, Lynda M / Resnick, Susan / Oldmeadow, Christopher / Kirin, Mirna / Wright, Alan F / Jonsdottir, Maria K / Au, Rhoda / Becker, Albert / Amin, Najaf / Nalls, Mike A / Turner, Stephen T / Kardia, Sharon L R / Oostra, Ben / Windham, Gwen / Coker, Laura H / Zhao, Wei / Knopman, David S / Heiss, Gerardo / Griswold, Michael E / Gottesman, Rebecca F / Vitart, Veronique / Hastie, Nicholas D / Zgaga, Lina / Rudan, Igor / Polasek, Ozren / Holliday, Elizabeth G / Schofield, Peter / Choi, Seung Hoan / Tanaka, Toshiko / An, Yang / Perry, Rodney T / Kennedy, Richard E / Sale, Michèle M / Wang, Jing / Wadley, Virginia G / Liewald, David C / Ridker, Paul M / Gow, Alan J / Pattie, Alison / Starr, John M / Porteous, David / Liu, Xuan / Thomson, Russell / Armstrong, Nicola J / Eiriksdottir, Gudny / Assareh, Arezoo A / Kochan, Nicole A / Widen, Elisabeth / Palotie, Aarno / Hsieh, Yi-Chen / Eriksson, Johan G / Vogler, Christian / van Swieten, John C / Shulman, Joshua M / Beiser, Alexa / Rotter, Jerome / Schmidt, Carsten O / Hoffmann, Wolfgang / Nöthen, Markus M / Ferrucci, Luigi / Attia, John / Uitterlinden, Andre G / Amouyel, Philippe / Dartigues, Jean-François / Amieva, Hélène / Räikkönen, Katri / Garcia, Melissa / Wolf, Philip A / Hofman, Albert / Longstreth, W T / Psaty, Bruce M / Boerwinkle, Eric / DeJager, Philip L / Sachdev, Perminder S / Schmidt, Reinhold / Breteler, Monique M B / Teumer, Alexander / Lopez, Oscar L / Cichon, Sven / Chasman, Daniel I / Grodstein, Francine / Müller-Myhsok, Bertram / Tzourio, Christophe / Papassotiropoulos, Andreas / Bennett, David A / Ikram, M Arfan / Deary, Ian J / van Duijn, Cornelia M / Launer, Lenore / Fitzpatrick, Annette L / Seshadri, Sudha / Mosley, Thomas H

    Biological psychiatry

    2014  Volume 77, Issue 8, Page(s) 749–763

    Abstract: Background: Memory performance in older persons can reflect genetic influences on cognitive function and dementing processes. We aimed to identify genetic contributions to verbal declarative memory in a community setting.: Methods: We conducted ... ...

    Abstract Background: Memory performance in older persons can reflect genetic influences on cognitive function and dementing processes. We aimed to identify genetic contributions to verbal declarative memory in a community setting.
    Methods: We conducted genome-wide association studies for paragraph or word list delayed recall in 19 cohorts from the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium, comprising 29,076 dementia- and stroke-free individuals of European descent, aged ≥45 years. Replication of suggestive associations (p < 5 × 10(-6)) was sought in 10,617 participants of European descent, 3811 African-Americans, and 1561 young adults.
    Results: rs4420638, near APOE, was associated with poorer delayed recall performance in discovery (p = 5.57 × 10(-10)) and replication cohorts (p = 5.65 × 10(-8)). This association was stronger for paragraph than word list delayed recall and in the oldest persons. Two associations with specific tests, in subsets of the total sample, reached genome-wide significance in combined analyses of discovery and replication (rs11074779 [HS3ST4], p = 3.11 × 10(-8), and rs6813517 [SPOCK3], p = 2.58 × 10(-8)) near genes involved in immune response. A genetic score combining 58 independent suggestive memory risk variants was associated with increasing Alzheimer disease pathology in 725 autopsy samples. Association of memory risk loci with gene expression in 138 human hippocampus samples showed cis-associations with WDR48 and CLDN5, both related to ubiquitin metabolism.
    Conclusions: This largest study to date exploring the genetics of memory function in ~40,000 older individuals revealed genome-wide associations and suggested an involvement of immune and ubiquitin pathways.
    MeSH term(s) Aged ; Aged, 80 and over ; Aging/genetics ; Apolipoproteins E/genetics ; Claudin-5/genetics ; Cohort Studies ; Female ; Genome-Wide Association Study ; Genotype ; Humans ; Intracellular Signaling Peptides and Proteins ; Male ; Memory Disorders/genetics ; Middle Aged ; Polymorphism, Single Nucleotide/genetics ; Proteins/genetics ; Proteoglycans/genetics ; Regression Analysis ; Sulfotransferases/genetics ; Verbal Learning/physiology
    Chemical Substances Apolipoproteins E ; CLDN5 protein, human ; Claudin-5 ; Intracellular Signaling Peptides and Proteins ; Proteins ; Proteoglycans ; SPOCK3 protein, human ; WDR48 protein, human ; Sulfotransferases (EC 2.8.2.-) ; heparitin sulfotransferase (EC 2.8.2.8)
    Language English
    Publishing date 2014-11-25
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 209434-4
    ISSN 1873-2402 ; 0006-3223
    ISSN (online) 1873-2402
    ISSN 0006-3223
    DOI 10.1016/j.biopsych.2014.08.027
    Database MEDical Literature Analysis and Retrieval System OnLINE

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