@article{WuttkeLiLietal.2019, author = {Wuttke, Matthias and Li, Yong and Li, Man and Sieber, Karsten B. and Feitosa, Mary F. and Gorski, Mathias and Tin, Adrienne and Wang, Lihua and Chu, Audrey Y. and Hoppmann, Anselm and Kirsten, Holger and Giri, Ayush and Chai, Jin-Fang and Sveinbjornsson, Gardar and Tayo, Bamidele O. and Nutile, Teresa and Fuchsberger, Christian and Marten, Jonathan and Cocca, Massimiliano and Ghasemi, Sahar and Xu, Yizhe and Horn, Katrin and Noce, Damia and Van der Most, Peter J. and Sedaghat, Sanaz and Yu, Zhi and Akiyama, Masato and Afaq, Saima and Ahluwalia, Tarunveer Singh and Almgren, Peter and Amin, Najaf and Arnlov, Johan and Bakker, Stephan J. L. and Bansal, Nisha and Baptista, Daniela and Bergmann, Sven and Biggs, Mary L. and Biino, Ginevra and Boehnke, Michael and Boerwinkle, Eric and Boissel, Mathilde and B{\"o}ttinger, Erwin and Boutin, Thibaud S. and Brenner, Hermann and Brumat, Marco and Burkhardt, Ralph and Butterworth, Adam S. and Campana, Eric and Campbell, Archie and Campbell, Harry and Canouil, Mickael and Carroll, Robert J. and Catamo, Eulalia and Chambers, John C. and Chee, Miao-Ling and Chee, Miao-Li and Chen, Xu and Cheng, Ching-Yu and Cheng, Yurong and Christensen, Kaare and Cifkova, Renata and Ciullo, Marina and Concas, Maria Pina and Cook, James P. and Coresh, Josef and Corre, Tanguy and Sala, Cinzia Felicita and Cusi, Daniele and Danesh, John and Daw, E. Warwick and De Borst, Martin H. and De Grandi, Alessandro and De Mutsert, Renee and De Vries, Aiko P. J. and Degenhardt, Frauke and Delgado, Graciela and Demirkan, Ayse and Di Angelantonio, Emanuele and Dittrich, Katalin and Divers, Jasmin and Dorajoo, Rajkumar and Eckardt, Kai-Uwe and Ehret, Georg and Elliott, Paul and Endlich, Karlhans and Evans, Michele K. and Felix, Janine F. and Foo, Valencia Hui Xian and Franco, Oscar H. and Franke, Andre and Freedman, Barry I. and Freitag-Wolf, Sandra and Friedlander, Yechiel and Froguel, Philippe and Gansevoort, Ron T. and Gao, He and Gasparini, Paolo and Gaziano, J. Michael and Giedraitis, Vilmantas and Gieger, Christian and Girotto, Giorgia and Giulianini, Franco and Gogele, Martin and Gordon, Scott D. and Gudbjartsson, Daniel F. and Gudnason, Vilmundur and Haller, Toomas and Hamet, Pavel and Harris, Tamara B. and Hartman, Catharina A. and Hayward, Caroline and Hellwege, Jacklyn N. and Heng, Chew-Kiat and Hicks, Andrew A. and Hofer, Edith and Huang, Wei and Hutri-Kahonen, Nina and Hwang, Shih-Jen and Ikram, M. Arfan and Indridason, Olafur S. and Ingelsson, Erik and Ising, Marcus and Jaddoe, Vincent W. V. and Jakobsdottir, Johanna and Jonas, Jost B. and Joshi, Peter K. and Josyula, Navya Shilpa and Jung, Bettina and Kahonen, Mika and Kamatani, Yoichiro and Kammerer, Candace M. and Kanai, Masahiro and Kastarinen, Mika and Kerr, Shona M. and Khor, Chiea-Chuen and Kiess, Wieland and Kleber, Marcus E. and Koenig, Wolfgang and Kooner, Jaspal S. and Korner, Antje and Kovacs, Peter and Kraja, Aldi T. and Krajcoviechova, Alena and Kramer, Holly and Kramer, Bernhard K. and Kronenberg, Florian and Kubo, Michiaki and Kuhnel, Brigitte and Kuokkanen, Mikko and Kuusisto, Johanna and La Bianca, Martina and Laakso, Markku and Lange, Leslie A. and Langefeld, Carl D. and Lee, Jeannette Jen-Mai and Lehne, Benjamin and Lehtimaki, Terho and Lieb, Wolfgang and Lim, Su-Chi and Lind, Lars and Lindgren, Cecilia M. and Liu, Jun and Liu, Jianjun and Loeffler, Markus and Loos, Ruth J. F. and Lucae, Susanne and Lukas, Mary Ann and Lyytikainen, Leo-Pekka and Magi, Reedik and Magnusson, Patrik K. E. and Mahajan, Anubha and Martin, Nicholas G. and Martins, Jade and Marz, Winfried and Mascalzoni, Deborah and Matsuda, Koichi and Meisinger, Christa and Meitinger, Thomas and Melander, Olle and Metspalu, Andres and Mikaelsdottir, Evgenia K. and Milaneschi, Yuri and Miliku, Kozeta and Mishra, Pashupati P. and Program, V. A. Million Veteran and Mohlke, Karen L. and Mononen, Nina and Montgomery, Grant W. and Mook-Kanamori, Dennis O. and Mychaleckyj, Josyf C. and Nadkarni, Girish N. and Nalls, Mike A. and Nauck, Matthias and Nikus, Kjell and Ning, Boting and Nolte, Ilja M. and Noordam, Raymond and Olafsson, Isleifur and Oldehinkel, Albertine J. and Orho-Melander, Marju and Ouwehand, Willem H. and Padmanabhan, Sandosh and Palmer, Nicholette D. and Palsson, Runolfur and Penninx, Brenda W. J. H. and Perls, Thomas and Perola, Markus and Pirastu, Mario and Pirastu, Nicola and Pistis, Giorgio and Podgornaia, Anna I. and Polasek, Ozren and Ponte, Belen and Porteous, David J. and Poulain, Tanja and Pramstaller, Peter P. and Preuss, Michael H. and Prins, Bram P. and Province, Michael A. and Rabelink, Ton J. and Raffield, Laura M. and Raitakari, Olli T. and Reilly, Dermot F. and Rettig, Rainer and Rheinberger, Myriam and Rice, Kenneth M. and Ridker, Paul M. and Rivadeneira, Fernando and Rizzi, Federica and Roberts, David J. and Robino, Antonietta and Rossing, Peter and Rudan, Igor and Rueedi, Rico and Ruggiero, Daniela and Ryan, Kathleen A. and Saba, Yasaman and Sabanayagam, Charumathi and Salomaa, Veikko and Salvi, Erika and Saum, Kai-Uwe and Schmidt, Helena and Schmidt, Reinhold and Ben Schottker, and Schulz, Christina-Alexandra and Schupf, Nicole and Shaffer, Christian M. and Shi, Yuan and Smith, Albert V. and Smith, Blair H. and Soranzo, Nicole and Spracklen, Cassandra N. and Strauch, Konstantin and Stringham, Heather M. and Stumvoll, Michael and Svensson, Per O. and Szymczak, Silke and Tai, E-Shyong and Tajuddin, Salman M. and Tan, Nicholas Y. Q. and Taylor, Kent D. and Teren, Andrej and Tham, Yih-Chung and Thiery, Joachim and Thio, Chris H. L. and Thomsen, Hauke and Thorleifsson, Gudmar and Toniolo, Daniela and Tonjes, Anke and Tremblay, Johanne and Tzoulaki, Ioanna and Uitterlinden, Andre G. and Vaccargiu, Simona and Van Dam, Rob M. and Van der Harst, Pim and Van Duijn, Cornelia M. and Edward, Digna R. Velez and Verweij, Niek and Vogelezang, Suzanne and Volker, Uwe and Vollenweider, Peter and Waeber, Gerard and Waldenberger, Melanie and Wallentin, Lars and Wang, Ya Xing and Wang, Chaolong and Waterworth, Dawn M. and Bin Wei, Wen and White, Harvey and Whitfield, John B. and Wild, Sarah H. and Wilson, James F. and Wojczynski, Mary K. and Wong, Charlene and Wong, Tien-Yin and Xu, Liang and Yang, Qiong and Yasuda, Masayuki and Yerges-Armstrong, Laura M. and Zhang, Weihua and Zonderman, Alan B. and Rotter, Jerome I. and Bochud, Murielle and Psaty, Bruce M. and Vitart, Veronique and Wilson, James G. and Dehghan, Abbas and Parsa, Afshin and Chasman, Daniel I. and Ho, Kevin and Morris, Andrew P. and Devuyst, Olivier and Akilesh, Shreeram and Pendergrass, Sarah A. and Sim, Xueling and Boger, Carsten A. and Okada, Yukinori and Edwards, Todd L. and Snieder, Harold and Stefansson, Kari and Hung, Adriana M. and Heid, Iris M. and Scholz, Markus and Teumer, Alexander and Kottgen, Anna and Pattaro, Cristian}, title = {A catalog of genetic loci associated with kidney function from analyses of a million individuals}, series = {Nature genetics}, volume = {51}, journal = {Nature genetics}, number = {6}, publisher = {Nature Publ. Group}, address = {New York}, organization = {Lifelines COHort Study}, issn = {1061-4036}, doi = {10.1038/s41588-019-0407-x}, pages = {957 -- +}, year = {2019}, abstract = {Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through transancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) and independent replication (n = 1,046,070), we identified 264 associated loci (166 new). Of these,147 were likely to be relevant for kidney function on the basis of associations with the alternative kidney function marker blood urea nitrogen (n = 416,178). Pathway and enrichment analyses, including mouse models with renal phenotypes, support the kidney as the main target organ. A genetic risk score for lower eGFR was associated with clinically diagnosed CKD in 452,264 independent individuals. Colocalization analyses of associations with eGFR among 783,978 European-ancestry individuals and gene expression across 46 human tissues, including tubulo-interstitial and glomerular kidney compartments, identified 17 genes differentially expressed in kidney. Fine-mapping highlighted missense driver variants in 11 genes and kidney-specific regulatory variants. These results provide a comprehensive priority list of molecular targets for translational research.}, language = {en} } @misc{GorskiJungLietal.2020, author = {Gorski, Mathias and Jung, Bettina and Li, Yong and Matias-Garcia, Pamela R. and Wuttke, Matthias and Coassin, Stefan and Thio, Chris H. L. and Kleber, Marcus E. and Winkler, Thomas W. and Wanner, Veronika and Chai, Jin-Fang and Chu, Audrey Y. and Cocca, Massimiliano and Feitosa, Mary F. and Ghasemi, Sahar and Hoppmann, Anselm and Horn, Katrin and Li, Man and Nutile, Teresa and Scholz, Markus and Sieber, Karsten B. and Teumer, Alexander and Tin, Adrienne and Wang, Judy and Tayo, Bamidele O. and Ahluwalia, Tarunveer S. and Almgren, Peter and Bakker, Stephan J. L. and Banas, Bernhard and Bansal, Nisha and Biggs, Mary L. and Boerwinkle, Eric and B{\"o}ttinger, Erwin and Brenner, Hermann and Carroll, Robert J. and Chalmers, John and Chee, Miao-Li and Chee, Miao-Ling and Cheng, Ching-Yu and Coresh, Josef and de Borst, Martin H. and Degenhardt, Frauke and Eckardt, Kai-Uwe and Endlich, Karlhans and Franke, Andre and Freitag-Wolf, Sandra and Gampawar, Piyush and Gansevoort, Ron T. and Ghanbari, Mohsen and Gieger, Christian and Hamet, Pavel and Ho, Kevin and Hofer, Edith and Holleczek, Bernd and Foo, Valencia Hui Xian and Hutri-Kahonen, Nina and Hwang, Shih-Jen and Ikram, M. Arfan and Josyula, Navya Shilpa and Kahonen, Mika and Khor, Chiea-Chuen and Koenig, Wolfgang and Kramer, Holly and Kraemer, Bernhard K. and Kuehnel, Brigitte and Lange, Leslie A. and Lehtimaki, Terho and Lieb, Wolfgang and Loos, Ruth J. F. and Lukas, Mary Ann and Lyytikainen, Leo-Pekka and Meisinger, Christa and Meitinger, Thomas and Melander, Olle and Milaneschi, Yuri and Mishra, Pashupati P. and Mononen, Nina and Mychaleckyj, Josyf C. and Nadkarni, Girish N. and Nauck, Matthias and Nikus, Kjell and Ning, Boting and Nolte, Ilja M. and O'Donoghue, Michelle L. and Orho-Melander, Marju and Pendergrass, Sarah A. and Penninx, Brenda W. J. H. and Preuss, Michael H. and Psaty, Bruce M. and Raffield, Laura M. and Raitakari, Olli T. and Rettig, Rainer and Rheinberger, Myriam and Rice, Kenneth M. and Rosenkranz, Alexander R. and Rossing, Peter and Rotter, Jerome and Sabanayagam, Charumathi and Schmidt, Helena and Schmidt, Reinhold and Schoettker, Ben and Schulz, Christina-Alexandra and Sedaghat, Sanaz and Shaffer, Christian M. and Strauch, Konstantin and Szymczak, Silke and Taylor, Kent D. and Tremblay, Johanne and Chaker, Layal and van der Harst, Pim and van der Most, Peter J. and Verweij, Niek and Voelker, Uwe and Waldenberger, Melanie and Wallentin, Lars and Waterworth, Dawn M. and White, Harvey D. and Wilson, James G. and Wong, Tien-Yin and Woodward, Mark and Yang, Qiong and Yasuda, Masayuki and Yerges-Armstrong, Laura M. and Zhang, Yan and Snieder, Harold and Wanner, Christoph and Boger, Carsten A. and Kottgen, Anna and Kronenberg, Florian and Pattaro, Cristian and Heid, Iris M.}, title = {Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline}, series = {Zweitver{\"o}ffentlichungen der Universit{\"a}t Potsdam : Reihe der Digital Engineering Fakult{\"a}t}, journal = {Zweitver{\"o}ffentlichungen der Universit{\"a}t Potsdam : Reihe der Digital Engineering Fakult{\"a}t}, number = {19}, doi = {10.25932/publishup-56537}, url = {http://nbn-resolving.de/urn:nbn:de:kobv:517-opus4-565379}, pages = {14}, year = {2020}, abstract = {Rapid decline of glomerular filtration rate estimated from creatinine (eGFRcrea) is associated with severe clinical endpoints. In contrast to cross-sectionally assessed eGFRcrea, the genetic basis for rapid eGFRcrea decline is largely unknown. To help define this, we meta-analyzed 42 genome-wide association studies from the Chronic Kidney Diseases Genetics Consortium and United Kingdom Biobank to identify genetic loci for rapid eGFRcrea decline. Two definitions of eGFRcrea decline were used: 3 mL/min/1.73m(2)/year or more ("Rapid3"; encompassing 34,874 cases, 107,090 controls) and eGFRcrea decline 25\% or more and eGFRcrea under 60 mL/min/1.73m(2) at follow-up among those with eGFRcrea 60 mL/min/1.73m(2) or more at baseline ("CKDi25"; encompassing 19,901 cases, 175,244 controls). Seven independent variants were identified across six loci for Rapid3 and/or CKDi25: consisting of five variants at four loci with genome-wide significance (near UMOD-PDILT (2), PRKAG2, WDR72, OR2S2) and two variants among 265 known eGFRcrea variants (near GATM, LARP4B). All these loci were novel for Rapid3 and/or CKDi25 and our bioinformatic follow-up prioritized variants and genes underneath these loci. The OR2S2 locus is novel for any eGFRcrea trait including interesting candidates. For the five genome-wide significant lead variants, we found supporting effects for annual change in blood urea nitrogen or cystatin-based eGFR, but not for GATM or (LARP4B). Individuals at high compared to those at low genetic risk (8-14 vs. 0-5 adverse alleles) had a 1.20-fold increased risk of acute kidney injury (95\% confidence interval 1.08-1.33). Thus, our identified loci for rapid kidney function decline may help prioritize therapeutic targets and identify mechanisms and individuals at risk for sustained deterioration of kidney function.}, language = {en} } @article{GorskiJungLietal.2020, author = {Gorski, Mathias and Jung, Bettina and Li, Yong and Matias-Garcia, Pamela R. and Wuttke, Matthias and Coassin, Stefan and Thio, Chris H. L. and Kleber, Marcus E. and Winkler, Thomas W. and Wanner, Veronika and Chai, Jin-Fang and Chu, Audrey Y. and Cocca, Massimiliano and Feitosa, Mary F. and Ghasemi, Sahar and Hoppmann, Anselm and Horn, Katrin and Li, Man and Nutile, Teresa and Scholz, Markus and Sieber, Karsten B. and Teumer, Alexander and Tin, Adrienne and Wang, Judy and Tayo, Bamidele O. and Ahluwalia, Tarunveer S. and Almgren, Peter and Bakker, Stephan J. L. and Banas, Bernhard and Bansal, Nisha and Biggs, Mary L. and Boerwinkle, Eric and B{\"o}ttinger, Erwin and Brenner, Hermann and Carroll, Robert J. and Chalmers, John and Chee, Miao-Li and Chee, Miao-Ling and Cheng, Ching-Yu and Coresh, Josef and de Borst, Martin H. and Degenhardt, Frauke and Eckardt, Kai-Uwe and Endlich, Karlhans and Franke, Andre and Freitag-Wolf, Sandra and Gampawar, Piyush and Gansevoort, Ron T. and Ghanbari, Mohsen and Gieger, Christian and Hamet, Pavel and Ho, Kevin and Hofer, Edith and Holleczek, Bernd and Foo, Valencia Hui Xian and Hutri-Kahonen, Nina and Hwang, Shih-Jen and Ikram, M. Arfan and Josyula, Navya Shilpa and Kahonen, Mika and Khor, Chiea-Chuen and Koenig, Wolfgang and Kramer, Holly and Kraemer, Bernhard K. and Kuehnel, Brigitte and Lange, Leslie A. and Lehtimaki, Terho and Lieb, Wolfgang and Loos, Ruth J. F. and Lukas, Mary Ann and Lyytikainen, Leo-Pekka and Meisinger, Christa and Meitinger, Thomas and Melander, Olle and Milaneschi, Yuri and Mishra, Pashupati P. and Mononen, Nina and Mychaleckyj, Josyf C. and Nadkarni, Girish N. and Nauck, Matthias and Nikus, Kjell and Ning, Boting and Nolte, Ilja M. and O'Donoghue, Michelle L. and Orho-Melander, Marju and Pendergrass, Sarah A. and Penninx, Brenda W. J. H. and Preuss, Michael H. and Psaty, Bruce M. and Raffield, Laura M. and Raitakari, Olli T. and Rettig, Rainer and Rheinberger, Myriam and Rice, Kenneth M. and Rosenkranz, Alexander R. and Rossing, Peter and Rotter, Jerome and Sabanayagam, Charumathi and Schmidt, Helena and Schmidt, Reinhold and Schoettker, Ben and Schulz, Christina-Alexandra and Sedaghat, Sanaz and Shaffer, Christian M. and Strauch, Konstantin and Szymczak, Silke and Taylor, Kent D. and Tremblay, Johanne and Chaker, Layal and van der Harst, Pim and van der Most, Peter J. and Verweij, Niek and Voelker, Uwe and Waldenberger, Melanie and Wallentin, Lars and Waterworth, Dawn M. and White, Harvey D. and Wilson, James G. and Wong, Tien-Yin and Woodward, Mark and Yang, Qiong and Yasuda, Masayuki and Yerges-Armstrong, Laura M. and Zhang, Yan and Snieder, Harold and Wanner, Christoph and Boger, Carsten A. and Kottgen, Anna and Kronenberg, Florian and Pattaro, Cristian and Heid, Iris M.}, title = {Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline}, series = {Kidney international : official journal of the International Society of Nephrology}, volume = {99}, journal = {Kidney international : official journal of the International Society of Nephrology}, number = {4}, publisher = {Elsevier}, address = {New York}, organization = {Lifelines Cohort Study
Regeneron Genetics Ctr}, issn = {0085-2538}, doi = {10.1016/j.kint.2020.09.030}, pages = {926 -- 939}, year = {2020}, abstract = {Rapid decline of glomerular filtration rate estimated from creatinine (eGFRcrea) is associated with severe clinical endpoints. In contrast to cross-sectionally assessed eGFRcrea, the genetic basis for rapid eGFRcrea decline is largely unknown. To help define this, we meta-analyzed 42 genome-wide association studies from the Chronic Kidney Diseases Genetics Consortium and United Kingdom Biobank to identify genetic loci for rapid eGFRcrea decline. Two definitions of eGFRcrea decline were used: 3 mL/min/1.73m(2)/year or more ("Rapid3"; encompassing 34,874 cases, 107,090 controls) and eGFRcrea decline 25\% or more and eGFRcrea under 60 mL/min/1.73m(2) at follow-up among those with eGFRcrea 60 mL/min/1.73m(2) or more at baseline ("CKDi25"; encompassing 19,901 cases, 175,244 controls). Seven independent variants were identified across six loci for Rapid3 and/or CKDi25: consisting of five variants at four loci with genome-wide significance (near UMOD-PDILT (2), PRKAG2, WDR72, OR2S2) and two variants among 265 known eGFRcrea variants (near GATM, LARP4B). All these loci were novel for Rapid3 and/or CKDi25 and our bioinformatic follow-up prioritized variants and genes underneath these loci. The OR2S2 locus is novel for any eGFRcrea trait including interesting candidates. For the five genome-wide significant lead variants, we found supporting effects for annual change in blood urea nitrogen or cystatin-based eGFR, but not for GATM or (LARP4B). Individuals at high compared to those at low genetic risk (8-14 vs. 0-5 adverse alleles) had a 1.20-fold increased risk of acute kidney injury (95\% confidence interval 1.08-1.33). Thus, our identified loci for rapid kidney function decline may help prioritize therapeutic targets and identify mechanisms and individuals at risk for sustained deterioration of kidney function.}, language = {en} } @article{BanksNishiyamaHasebeetal.2011, author = {Banks, Jo Ann and Nishiyama, Tomoaki and Hasebe, Mitsuyasu and Bowman, John L. and Gribskov, Michael and dePamphilis, Claude and Albert, Victor A. and Aono, Naoki and Aoyama, Tsuyoshi and Ambrose, Barbara A. and Ashton, Neil W. and Axtell, Michael J. and Barker, Elizabeth and Barker, Michael S. and Bennetzen, Jeffrey L. and Bonawitz, Nicholas D. and Chapple, Clint and Cheng, Chaoyang and Correa, Luiz Gustavo Guedes and Dacre, Michael and DeBarry, Jeremy and Dreyer, Ingo and Elias, Marek and Engstrom, Eric M. and Estelle, Mark and Feng, Liang and Finet, Cedric and Floyd, Sandra K. and Frommer, Wolf B. and Fujita, Tomomichi and Gramzow, Lydia and Gutensohn, Michael and Harholt, Jesper and Hattori, Mitsuru and Heyl, Alexander and Hirai, Tadayoshi and Hiwatashi, Yuji and Ishikawa, Masaki and Iwata, Mineko and Karol, Kenneth G. and Koehler, Barbara and Kolukisaoglu, Uener and Kubo, Minoru and Kurata, Tetsuya and Lalonde, Sylvie and Li, Kejie and Li, Ying and Litt, Amy and Lyons, Eric and Manning, Gerard and Maruyama, Takeshi and Michael, Todd P. and Mikami, Koji and Miyazaki, Saori and Morinaga, Shin-ichi and Murata, Takashi and M{\"u}ller-R{\"o}ber, Bernd and Nelson, David R. and Obara, Mari and Oguri, Yasuko and Olmstead, Richard G. and Onodera, Naoko and Petersen, Bent Larsen and Pils, Birgit and Prigge, Michael and Rensing, Stefan A. and Mauricio Riano-Pachon, Diego and Roberts, Alison W. and Sato, Yoshikatsu and Scheller, Henrik Vibe and Schulz, Burkhard and Schulz, Christian and Shakirov, Eugene V. and Shibagaki, Nakako and Shinohara, Naoki and Shippen, Dorothy E. and Sorensen, Iben and Sotooka, Ryo and Sugimoto, Nagisa and Sugita, Mamoru and Sumikawa, Naomi and Tanurdzic, Milos and Theissen, Guenter and Ulvskov, Peter and Wakazuki, Sachiko and Weng, Jing-Ke and Willats, William W. G. T. and Wipf, Daniel and Wolf, Paul G. and Yang, Lixing and Zimmer, Andreas D. and Zhu, Qihui and Mitros, Therese and Hellsten, Uffe and Loque, Dominique and Otillar, Robert and Salamov, Asaf and Schmutz, Jeremy and Shapiro, Harris and Lindquist, Erika and Lucas, Susan and Rokhsar, Daniel and Grigoriev, Igor V.}, title = {The selaginella genome identifies genetic changes associated with the evolution of vascular plants}, series = {Science}, volume = {332}, journal = {Science}, number = {6032}, publisher = {American Assoc. for the Advancement of Science}, address = {Washington}, issn = {0036-8075}, doi = {10.1126/science.1203810}, pages = {960 -- 963}, year = {2011}, abstract = {Vascular plants appeared similar to 410 million years ago, then diverged into several lineages of which only two survive: the euphyllophytes (ferns and seed plants) and the lycophytes. We report here the genome sequence of the lycophyte Selaginella moellendorffii (Selaginella), the first nonseed vascular plant genome reported. By comparing gene content in evolutionarily diverse taxa, we found that the transition from a gametophyte- to a sporophyte-dominated life cycle required far fewer new genes than the transition from a nonseed vascular to a flowering plant, whereas secondary metabolic genes expanded extensively and in parallel in the lycophyte and angiosperm lineages. Selaginella differs in posttranscriptional gene regulation, including small RNA regulation of repetitive elements, an absence of the trans-acting small interfering RNA pathway, and extensive RNA editing of organellar genes.}, language = {en} } @article{AbeysekaraArcherBenbowetal.2018, author = {Abeysekara, A. U. and Archer, A. and Benbow, Wystan and Bird, Ralph and Brose, Robert and Buchovecky, M. and Buckley, J. H. and Bugaev, V. and Chromey, A. J. and Connolly, M. P. and Cui, Wei and Daniel, M. K. and Falcone, A. and Feng, Qi and Finley, John P. and Fortson, L. and Furniss, Amy and Huetten, M. and Hanna, David and Hervet, O. and Holder, J. and Hughes, G. and Humensky, T. B. and Johnson, Caitlin A. and Kaaret, Philip and Kar, P. and Kertzman, M. and Kieda, David and Krause, M. and Krennrich, F. and Kumar, S. and Lang, M. J. and Lin, T. T. Y. and McArthur, S. and Moriarty, P. and Mukherjee, Reshmi and Ong, R. A. and Otte, Adam Nepomuk and Park, Nahee and Petrashyk, A. and Pohl, Martin and Pueschel, Elisa and Quinn, J. and Ragan, K. and Reynolds, P. T. and Richards, Gregory T. and Roache, E. and Rulten, C. and Sadeh, I. and Santander, Marcos and Sembroski, G. H. and Shahinyan, Karlen and Sushch, I. and Tyler, J. and Wakely, S. P. and Weinstein, A. and Wells, R. M. and Wilcox, P. and Wilhelm, Alina and Williams, D. A. and Williamson, T. J. and Zitzer, B. and Abdollahi, S. and Ajello, Marco and Baldini, Luca and Barbiellini, G. and Bastieri, Denis and Bellazzini, Ronaldo and Berenji, B. and Bissaldi, Elisabetta and Blandford, R. D. and Bonino, R. and Bottacini, E. and Brandt, Terri J. and Bruel, P. and Buehler, R. and Cameron, R. A. and Caputo, R. and Caraveo, P. A. and Castro, D. and Cavazzuti, E. and Charles, Eric and Chiaro, G. and Ciprini, S. and Cohen-Tanugi, Johann and Costantin, D. and Cutini, S. and de Palma, F. and Di Lalla, N. and Di Mauro, M. and Di Venere, L. and Dominguez, A. and Favuzzi, C. and Fegan, S. J. and Franckowiak, Anna and Fukazawa, Yasushi and Funk, Stefan and Fusco, Piergiorgio and Gargano, Fabio and Gasparrini, Dario and Giglietto, Nicola and Giordano, F. and Giroletti, Marcello and Green, D. and Grenier, I. A. and Guillemot, L. and Guiriec, Sylvain and Hays, Elizabeth and Hewitt, John W. and Horan, D. and Johannesson, G. and Kensei, S. and Kuss, M. and Larsson, Stefan and Latronico, L. and Lemoine-Goumard, Marianne and Li, J. and Longo, Francesco and Loparco, Francesco and Lovellette, M. N. and Lubrano, Pasquale and Magill, Jeffrey D. and Maldera, Simone and Mazziotta, Mario Nicola and McEnery, J. E. and Michelson, P. F. and Mitthumsiri, W. and Mizuno, Tsunefumi and Monzani, Maria Elena and Morselli, Aldo and Moskalenko, Igor V. and Negro, M. and Nuss, E. and Ojha, R. and Omodei, Nicola and Orienti, M. and Orlando, E. and Palatiello, M. and Paliya, Vaidehi S. and Paneque, D. and Perkins, Jeremy S. and Persic, M. and Pesce-Rollins, Melissa and Petrosian, Vahe' and Piron, F. and Porter, Troy A. and Principe, G. and Raino, S. and Rando, Riccardo and Rani, B. and Razzano, Massimilano and Razzaque, Soebur and Reimer, A. and Reimer, Olaf and Reposeur, T. and Sgro, C. and Siskind, E. J. and Spandre, Gloria and Spinelli, P. and Suson, D. J. and Tajima, Hiroyasu and Thayer, J. B. and Thompson, David J. and Torres, Diego F. and Tosti, Gino and Troja, Eleonora and Valverde, J. and Vianello, Giacomo and Vogel, M. and Wood, K. and Yassine, M. and Alfaro, R. and Alvarez, C. and Alvarez, J. D. and Arceo, R. and Arteaga-Velazquez, J. C. and Rojas, D. Avila and Ayala Solares, H. A. and Becerril, A. and Belmont-Moreno, E. and BenZvi, S. Y. and Bernal, A. and Braun, J. and Brisbois, C. and Caballero-Mora, K. S. and Capistran, T. and Carraminana, A. and Casanova, Sabrina and Castillo, M. and Cotti, U. and Cotzomi, J. and Coutino de Leon, S. and De Leon, C. and De la Fuente, E. and Dichiara, S. and Dingus, B. L. and DuVernois, M. A. and Diaz-Velez, J. C. and Engel, K. and Enriquez-Rivera, O. and Fiorino, D. W. and Fleischhack, H. and Fraija, N. and Garcia-Gonzalez, J. A. and Garfias, F. and Gonzalez Munoz, A. and Gonzalez, M. M. and Goodman, J. A. and Hampel-Arias, Z. and Harding, J. P. and Hernandez, S. and Hernandez-Almada, A. and Hona, B. and Hueyotl-Zahuantitla, F. and Hui, C. M. and Huntemeyer, P. and Iriarte, A. and Jardin-Blicq, A. and Joshi, V. and Kaufmann, S. and Lara, A. and Lauer, R. J. and Lee, W. H. and Lennarz, D. and Leon Vargas, H. and Linnemann, J. T. and Longinotti, A. L. and Luis-Raya, G. and Luna-Garcia, R. and Lopez-Coto, R. and Malone, K. and Marinelli, S. S. and Martinez, O. and Martinez-Castellanos, I. and Martinez-Castro, J. and Martinez-Huerta, H. and Matthews, J. A. and Miranda-Romagnoli, P. and Moreno, E. and Mostafa, M. and Nayerhoda, A. and Nellen, L. and Newbold, M. and Nisa, M. U. and Noriega-Papaqui, R. and Pelayo, R. and Pretz, J. and Perez-Perez, E. G. and Ren, Z. and Rho, C. D. and Riviere, C. and Rosa-Gonzalez, D. and Rosenberg, M. and Ruiz-Velasco, E. and Salazar, H. and Greus, F. Salesa and Sandoval, A. and Schneider, M. and Arroyo, M. Seglar and Sinnis, G. and Smith, A. J. and Springer, R. W. and Surajbali, P. and Taboada, Ignacio and Tibolla, O. and Tollefson, K. and Torres, I. and Ukwatta, Tilan N. and Villasenor, L. and Weisgarber, T. and Westerhoff, Stefan and Wisher, I. G. and Wood, J. and Yapici, Tolga and Yodh, G. and Zepeda, A. and Zhou, H.}, title = {VERITAS and Fermi-LAT Observations of TeV Gamma-Ray Sources Discovered by HAWC in the 2HWC Catalog}, series = {The astrophysical journal : an international review of spectroscopy and astronomical physics}, volume = {866}, journal = {The astrophysical journal : an international review of spectroscopy and astronomical physics}, number = {1}, publisher = {IOP Publ. Ltd.}, address = {Bristol}, organization = {VERITAS Collaboration Fermi-LAT Collaboration HAWC Collaboration}, issn = {0004-637X}, doi = {10.3847/1538-4357/aade4e}, pages = {18}, year = {2018}, abstract = {The High Altitude Water Cherenkov (HAWC) collaboration recently published their 2HWC catalog, listing 39 very high energy (VHE; >100 GeV) gamma-ray sources based on 507 days of observation. Among these, 19 sources are not associated with previously known teraelectronvolt (TeV) gamma-ray sources. We have studied 14 of these sources without known counterparts with VERITAS and Fermi-LAT. VERITAS detected weak gamma-ray emission in the 1 TeV-30 TeV band in the region of DA 495, a pulsar wind nebula coinciding with 2HWC J1953+294, confirming the discovery of the source by HAWC. We did not find any counterpart for the selected 14 new HAWC sources from our analysis of Fermi-LAT data for energies higher than 10 GeV. During the search, we detected gigaelectronvolt (GeV) gamma-ray emission coincident with a known TeV pulsar wind nebula, SNR G54.1+0.3 (VER J1930+188), and a 2HWC source, 2HWC J1930+188. The fluxes for isolated, steady sources in the 2HWC catalog are generally in good agreement with those measured by imaging atmospheric Cherenkov telescopes. However, the VERITAS fluxes for SNR G54.1+0.3, DA 495, and TeV J2032+4130 are lower than those measured by HAWC, and several new HAWC sources are not detected by VERITAS. This is likely due to a change in spectral shape, source extension, or the influence of diffuse emission in the source region.}, language = {en} } @article{ArchambaultArlenAuneetal.2014, author = {Archambault, S. and Arlen, T. and Aune, T. and Beilicke, M. and Benbow, W. and Bird, R. and Boettcher, Markus and Bouvier, A. and Buckley, J. H. and Bugaev, V. and Ciupik, L. and Collins-Hughes, E. and Connolly, M. P. and Cui, W. and Dickherber, R. and Dumm, J. and Errando, M. and Falcone, A. and Federici, Simone and Feng, Q. and Finley, J. P. and Fortson, L. and Furniss, A. and Galante, N. and Gall, D. and Garson, A. III. and Gillanders, G. H. and Griffin, S. and Grube, J. and Gusbar, C. and Gyuk, G. and Hanna, D. and Holder, J. and Hughes, G. and Kaaret, P. and Kertzman, M. and Khassen, Y. and Kieda, D. and Krawczynski, H. and Lamerato, A. and Lang, M. J. and Li, K. and Madhavan, A. S. and Maier, G. and Majumdar, P. and McArthur, S. and McCann, A. and Millis, J. and Moriarty, P. and Mukherjee, R. and Nieto, D. and Ong, R. A. and Orr, M. and Otte, A. N. and Park, N. and Perkins, J. S. and Pohl, Martin and Popkow, A. and Prokoph, H. and Quinn, J. and Ragan, K. and Reynolds, P. T. and Richards, G. T. and Roache, E. and Roustazadeh, P. and Saxon, D. B. and Sembroski, G. H. and Senturk, G. D. and Skole, C. and Staszak, D. and Telezhinsky, Igor O. and Tesic, G. and Theiling, M. and Varlotta, A. and Vassiliev, V. V. and Vincent, S. and Wakely, S. P. and Weinstein, A. and Welsing, R. and Williams, D. A. and Zitzer, B.}, title = {Test of models of the cosmic infrared background with multiwavelength observations of the blazar 1ES 1218+30.4 IN 2009}, series = {The astrophysical journal : an international review of spectroscopy and astronomical physics}, volume = {788}, journal = {The astrophysical journal : an international review of spectroscopy and astronomical physics}, number = {2}, publisher = {IOP Publ. Ltd.}, address = {Bristol}, issn = {0004-637X}, doi = {10.1088/0004-637X/788/2/158}, pages = {9}, year = {2014}, abstract = {We present the results of a multi-wavelength campaign targeting the blazar 1ES 1218+30.4 with observations with the 1.3 m McGraw-Hill optical telescope, the Rossi X-ray Timing Explorer (RXTE), the Fermi Gamma-Ray Space Telescope, and the Very Energetic Radiation Imaging Telescope Array System (VERITAS). The RXTE and VERITAS observations were spread over a 13 day period and revealed clear evidence for flux variability, and a strong X-ray and gamma-ray flare on 2009 February 26 (MJD 54888). The campaign delivered a well-sampled broadband energy spectrum with simultaneous RXTE and VERITAS very high energy (VHE, > 100 GeV) observations, as well as contemporaneous optical and Fermi observations. The 1ES 1218+30.4 broadband energy spectrum-the first with simultaneous X-ray and VHE gamma-ray energy spectra-is of particular interest as the source is located at a high cosmological redshift for a VHE source (z = 0.182), leading to strong absorption of VHE gamma rays by photons from the optical/infrared extragalactic background light (EBL) via gamma VHE +gamma EBL -> e(+) e(-)pair-creation processes. We model the data with a one-zone synchrotron self-Compton (SSC) emission model and with the extragalactic absorption predicted by several recent EBL models. We find that the observations are consistent with the SSC scenario and all the EBL models considered in this work. We discuss observational and theoretical avenues to improve on the EBL constraints.}, language = {en} } @article{AldorettaStLouisRichardsonetal.2016, author = {Aldoretta, E. J. and St-Louis, N. and Richardson, N. D. and Moffat, Anthony F. J. and Eversberg, T. and Hill, G. M. and Shenar, Tomer and Artigau, E. and Gauza, B. and Knapen, J. H. and Kubat, Jiř{\´i} and Kubatova, Brankica and Maltais-Tariant, R. and Munoz, M. and Pablo, H. and Ramiaramanantsoa, T. and Richard-Laferriere, A. and Sablowski, D. P. and Simon-Diaz, S. and St-Jean, L. and Bolduan, F. and Dias, F. M. and Dubreuil, P. and Fuchs, D. and Garrel, T. and Grutzeck, G. and Hunger, T. and Kuesters, D. and Langenbrink, M. and Leadbeater, R. and Li, D. and Lopez, A. and Mauclaire, B. and Moldenhawer, T. and Potter, M. and dos Santos, E. M. and Schanne, L. and Schmidt, J. and Sieske, H. and Strachan, J. and Stinner, E. and Stinner, P. and Stober, B. and Strandbaek, K. and Syder, T. and Verilhac, D. and Waldschlaeger, U. and Weiss, D. and Wendt, A.}, title = {An extensive spectroscopic time series of three Wolf-Rayet stars - I. The lifetime of large-scale structures in the wind of WR 134}, series = {Monthly notices of the Royal Astronomical Society}, volume = {460}, journal = {Monthly notices of the Royal Astronomical Society}, publisher = {Oxford Univ. Press}, address = {Oxford}, issn = {0035-8711}, doi = {10.1093/mnras/stw1188}, pages = {3407 -- 3417}, year = {2016}, abstract = {During the summer of 2013, a 4-month spectroscopic campaign took place to observe the variabilities in three Wolf-Rayet stars. The spectroscopic data have been analysed for WR 134 (WN6b), to better understand its behaviour and long-term periodicity, which we interpret as arising from corotating interaction regions (CIRs) in the wind. By analysing the variability of the He ii lambda 5411 emission line, the previously identified period was refined to P = 2.255 +/- 0.008 (s.d.) d. The coherency time of the variability, which we associate with the lifetime of the CIRs in the wind, was deduced to be 40 +/- 6 d, or similar to 18 cycles, by cross-correlating the variability patterns as a function of time. When comparing the phased observational grey-scale difference images with theoretical grey-scales previously calculated from models including CIRs in an optically thin stellar wind, we find that two CIRs were likely present. A separation in longitude of Delta I center dot a parts per thousand integral 90A degrees was determined between the two CIRs and we suggest that the different maximum velocities that they reach indicate that they emerge from different latitudes. We have also been able to detect observational signatures of the CIRs in other spectral lines (C iv lambda lambda 5802,5812 and He i lambda 5876). Furthermore, a DAC was found to be present simultaneously with the CIR signatures detected in the He i lambda 5876 emission line which is consistent with the proposed geometry of the large-scale structures in the wind. Small-scale structures also show a presence in the wind, simultaneously with the larger scale structures, showing that they do in fact co-exist.}, language = {en} } @article{VanHoutTachmazidouBackmanetal.2020, author = {Van Hout, Cristopher V. and Tachmazidou, Ioanna and Backman, Joshua D. and Hoffman, Joshua D. and Liu, Daren and Pandey, Ashutosh K. and Gonzaga-Jauregui, Claudia and Khalid, Shareef and Ye, Bin and Banerjee, Nilanjana and Li, Alexander H. and O'Dushlaine, Colm and Marcketta, Anthony and Staples, Jeffrey and Schurmann, Claudia and Hawes, Alicia and Maxwell, Evan and Barnard, Leland and Lopez, Alexander and Penn, John and Habegger, Lukas and Blumenfeld, Andrew L. and Bai, Xiaodong and O'Keeffe, Sean and Yadav, Ashish and Praveen, Kavita and Jones, Marcus and Salerno, William J. and Chung, Wendy K. and Surakka, Ida and Willer, Cristen J. and Hveem, Kristian and Leader, Joseph B. and Carey, David J. and Ledbetter, David H. and Cardon, Lon and Yancopoulos, George D. and Economides, Aris and Coppola, Giovanni and Shuldiner, Alan R. and Balasubramanian, Suganthi and Cantor, Michael and Nelson, Matthew R. and Whittaker, John and Reid, Jeffrey G. and Marchini, Jonathan and Overton, John D. and Scott, Robert A. and Abecasis, Goncalo R. and Yerges-Armstrong, Laura M. and Baras, Aris}, title = {Exome sequencing and characterization of 49,960 individuals in the UK Biobank}, series = {Nature : the international weekly journal of science}, volume = {586}, journal = {Nature : the international weekly journal of science}, number = {7831}, publisher = {Macmillan Publishers Limited}, address = {London}, organization = {Regeneron Genetics Ctr}, issn = {0028-0836}, doi = {10.1038/s41586-020-2853-0}, pages = {749 -- 756}, year = {2020}, abstract = {The UK Biobank is a prospective study of 502,543 individuals, combining extensive phenotypic and genotypic data with streamlined access for researchers around the world(1). Here we describe the release of exome-sequence data for the first 49,960 study participants, revealing approximately 4 million coding variants (of which around 98.6\% have a frequency of less than 1\%). The data include 198,269 autosomal predicted loss-of-function (LOF) variants, a more than 14-fold increase compared to the imputed sequence. Nearly all genes (more than 97\%) had at least one carrier with a LOF variant, and most genes (more than 69\%) had at least ten carriers with a LOF variant. We illustrate the power of characterizing LOF variants in this population through association analyses across 1,730 phenotypes. In addition to replicating established associations, we found novel LOF variants with large effects on disease traits, includingPIEZO1on varicose veins,COL6A1on corneal resistance,MEPEon bone density, andIQGAP2andGMPRon blood cell traits. We further demonstrate the value of exome sequencing by surveying the prevalence of pathogenic variants of clinical importance, and show that 2\% of this population has a medically actionable variant. Furthermore, we characterize the penetrance of cancer in carriers of pathogenicBRCA1andBRCA2variants. Exome sequences from the first 49,960 participants highlight the promise of genome sequencing in large population-based studies and are now accessible to the scientific community.
Exome sequences from the first 49,960 participants in the UK Biobank highlight the promise of genome sequencing in large population-based studies and are now accessible to the scientific community.}, language = {en} } @misc{BehmYoungWhittenetal.2017, author = {Behm, David George and Young, James D. and Whitten, Joseph H. D. and Reid, Jonathan C. and Quigley, Patrick J. and Low, Jonathan and Li, Yimeng and Lima, Camila D. and Hodgson, Daniel D. and Chaouachi, Anis and Prieske, Olaf and Granacher, Urs}, title = {Effectiveness of Traditional Strength vs. Power Training on Muscle Strength, Power and Speed with Youth: A Systematic Review and Meta-Analysis}, series = {Frontiers in physiology}, volume = {8}, journal = {Frontiers in physiology}, publisher = {Frontiers Research Foundation}, address = {Lausanne}, issn = {1664-042X}, doi = {10.3389/fphys.2017.00423}, pages = {37}, year = {2017}, abstract = {Numerous national associations and multiple reviews have documented the safety and efficacy of strength training for children and adolescents. The literature highlights the significant training-induced increases in strength associated with youth strength training. However, the effectiveness of youth strength training programs to improve power measures is not as clear. This discrepancy may be related to training and testing specificity. Most prior youth strength training programs emphasized lower intensity resistance with relatively slow movements. Since power activities typically involve higher intensity, explosive-like contractions with higher angular velocities (e.g., plyometrics), there is a conflict between the training medium and testing measures. This meta-analysis compared strength (e.g., training with resistance or body mass) and power training programs (e.g., plyometric training) on proxies of muscle strength, power, and speed. A systematic literature search using a Boolean Search Strategy was conducted in the electronic databases PubMed, SPORT Discus, Web of Science, and Google Scholar and revealed 652 hits. After perusal of title, abstract, and full text, 107 studies were eligible for inclusion in this systematic review and meta-analysis. The meta-analysis showed small to moderate magnitude changes for training specificity with jump measures. In other words, power training was more effective than strength training for improving youth jump height. For sprint measures, strength training was more effective than power training with youth. Furthermore, strength training exhibited consistently large magnitude changes to lower body strength measures, which contrasted with the generally trivial, small and moderate magnitude training improvements of power training upon lower body strength, sprint and jump measures, respectively. Maturity related inadequacies in eccentric strength and balance might influence the lack of training specificity with the unilateral landings and propulsions associated with sprinting. Based on this meta-analysis, strength training should be incorporated prior to power training in order to establish an adequate foundation of strength for power training activities.}, language = {en} } @article{ZhangLideGrijsetal.2015, author = {Zhang, Chaoli and Li, Chengyuan and de Grijs, Richard and Bekki, Kenji and Deng, Licai and Zaggia, Simone and Rubele, Stefano and Piatti, Andres E. and Cioni, Maria-Rosa L. and Emerson, Jim and For, Bi-Qing and Ripepi, Vincenzo and Marconi, Marcella and Ivanov, Valentin D. and Chen, Li}, title = {The vmc survey. XVIII. radial dependence of the Low-Mass, 0.55-0.82M(circle dot) stellar mass function in the galactic globular cluster 47 tucanae}, series = {The astrophysical journal : an international review of spectroscopy and astronomical physics}, volume = {815}, journal = {The astrophysical journal : an international review of spectroscopy and astronomical physics}, number = {2}, publisher = {IOP Publ. Ltd.}, address = {Bristol}, issn = {0004-637X}, doi = {10.1088/0004-637X/815/2/95}, pages = {9}, year = {2015}, language = {en} }