@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} } @article{StarkenburgMartinYouakimetal.2017, author = {Starkenburg, Else and Martin, Nicolas and Youakim, Kris and Aguado, David S. and Allende Prieto, Carlos and Arentsen, Anke and Bernard, Edouard J. and Bonifacio, Piercarlo and Caffau, Elisabetta and Carlberg, Raymond G. and Cote, Patrick and Fouesneau, Morgan and Francois, Patrick and Franke, Oliver and Gonzalez Hernandez, Jonay I. and Gwyn, Stephen D. J. and Hill, Vanessa and Ibata, Rodrigo A. and Jablonka, Pascale and Longeard, Nicolas and McConnachie, Alan W. and Navarro, Julio F. and Sanchez-Janssen, Ruben and Tolstoy, Eline and Venn, Kim A.}, title = {The Pristine survey - I. Mining the Galaxy for the most metal-poor stars}, series = {Monthly notices of the Royal Astronomical Society}, volume = {471}, journal = {Monthly notices of the Royal Astronomical Society}, publisher = {Oxford Univ. Press}, address = {Oxford}, issn = {0035-8711}, doi = {10.1093/mnras/stx1068}, pages = {2587 -- 2604}, year = {2017}, abstract = {We present the Pristine survey, a new narrow-band photometric survey focused on the metallicity-sensitive Ca H\&K lines and conducted in the Northern hemisphere with the wide-field imager MegaCam on the Canada-France-Hawaii Telescope. This paper reviews our overall survey strategy and discusses the data processing and metallicity calibration. Additionally we review the application of these data to the main aims of the survey, which are to gather a large sample of the most metal-poor stars in the Galaxy, to further characterize the faintest Milky Way satellites, and to map the (metal-poor) substructure in the Galactic halo. The current Pristine footprint comprises over 1000 deg(2) in the Galactic halo ranging from b similar to 30 degrees to similar to 78 degrees and covers many known stellar substructures. We demonstrate that, for Sloan Digital Sky Survey (SDSS) stellar objects, we can calibrate the photometry at the 0.02-mag level. The comparison with existing spectroscopic metallicities from SDSS/Sloan Extension for Galactic Understanding and Exploration (SEGUE) and Large Sky Area Multi-Object Fiber Spectroscopic Telescope shows that, when combined with SDSS broad-band g and i photometry, we can use the CaHK photometry to infer photometric metallicities with an accuracy of similar to 0.2 dex from [Fe/H] = -0.5 down to the extremely metal-poor regime ([Fe/H] < -3.0). After the removal of various contaminants, we can efficiently select metal-poor stars and build a very complete sample with high purity. The success rate of uncovering [Fe/H](SEGUE) < -3.0 stars among [Fe/H](Pristine) < -3.0 selected stars is 24 per cent, and 85 per cent of the remaining candidates are still very metal poor ([Fe/H]<-2.0). We further demonstrate that Pristine is well suited to identify the very rare and pristine Galactic stars with [Fe/H] < -4.0, which can teach us valuable lessons about the early Universe.}, language = {en} } @article{BroedelRaymondDumanetal.2013, author = {Broedel, A. K. and Raymond, J. A. and Duman, J. G. and Bier, Frank Fabian and Kubick, Stefan}, title = {Functional evaluation of candidate ice structuring proteins using cell-free expression systems}, series = {JOURNAL OF BIOTECHNOLOGY}, volume = {163}, journal = {JOURNAL OF BIOTECHNOLOGY}, number = {3}, publisher = {ELSEVIER SCIENCE BV}, address = {AMSTERDAM}, issn = {0168-1656}, doi = {10.1016/j.jbiotec.2012.11.001}, pages = {301 -- 310}, year = {2013}, abstract = {Ice structuring proteins (ISPs) protect organisms from damage or death by freezing. They depress the non-equilibrium freezing point of water and prevent recrystallization, probably by binding to the surface of ice crystals. Many ISPs have been described and it is likely that many more exist in nature that have not yet been identified. ISPs come in many forms and thus cannot be reliably identified by their structure or consensus ice-binding motifs. Recombinant protein expression is the gold standard for proving the activity of a candidate ISP. Among existing expression systems, cell-free protein expression is the simplest and gives the fastest access to the protein of interest, but selection of the appropriate cell-free expression system is crucial for functionality. Here we describe cell-free expression methods for three ISPs that differ widely in structure and glycosylation status from three organisms: a fish (Macrozoarces americanus), an insect (Dendroides canadensis) and an alga (Chlamydomonas sp. CCMP681). We use both prokaryotic and eukaryotic expression systems for the production of ISPs. An ice recrystallization inhibition assay is used to test functionality. The techniques described here should improve the success of cell-free expression of ISPs in future applications. (C) 2012 Elsevier B.V. All rights reserved.}, language = {en} } @misc{HussBookhagenHuggeletal.2017, author = {Huss, Matthias and Bookhagen, Bodo and Huggel, C. and Jacobsen, Dean and Bradley, Raymond S. and Clague, J. J. and Vuille, Mathias and Buytaert, Wouter and Cayan, D. R. and Greenwood, G. and Mark, B. G. and Milner, A. M. and Weingartner, Rolf and Winder, M.}, title = {Toward mountains without permanent snow and ice}, series = {Earths future}, volume = {5}, journal = {Earths future}, publisher = {Wiley}, address = {Hoboken}, issn = {2328-4277}, doi = {10.1002/2016EF000514}, pages = {418 -- 435}, year = {2017}, abstract = {The cryosphere in mountain regions is rapidly declining, a trend that is expected to accelerate over the next several decades due to anthropogenic climate change. A cascade of effects will result, extending from mountains to lowlands with associated impacts on human livelihood, economy, and ecosystems. With rising air temperatures and increased radiative forcing, glaciers will become smaller and, in some cases, disappear, the area of frozen ground will diminish, the ratio of snow to rainfall will decrease, and the timing and magnitude of both maximum and minimum streamflow will change. These changes will affect erosion rates, sediment, and nutrient flux, and the biogeochemistry of rivers and proglacial lakes, all of which influence water quality, aquatic habitat, and biotic communities. Changes in the length of the growing season will allow low-elevation plants and animals to expand their ranges upward. Slope failures due to thawing alpine permafrost, and outburst floods from glacier-and moraine-dammed lakes will threaten downstream populations.Societies even well beyond the mountains depend on meltwater from glaciers and snow for drinking water supplies, irrigation, mining, hydropower, agriculture, and recreation. Here, we review and, where possible, quantify the impacts of anticipated climate change on the alpine cryosphere, hydrosphere, and biosphere, and consider the implications for adaptation to a future of mountains without permanent snow and ice.}, language = {en} } @article{ClarkShakunMarcottetal.2016, author = {Clark, Peter U. and Shakun, Jeremy D. and Marcott, Shaun A. and Mix, Alan C. and Eby, Michael and Kulp, Scott and Levermann, Anders and Milne, Glenn A. and Pfister, Patrik L. and Santer, Benjamin D. and Schrag, Daniel P. and Solomon, Susan and Stocker, Thomas F. and Strauss, Benjamin H. and Weaver, Andrew J. and Winkelmann, Ricarda and Archer, David and Bard, Edouard and Goldner, Aaron and Lambeck, Kurt and Pierrehumbert, Raymond T. and Plattner, Gian-Kasper}, title = {Consequences of twenty-first-century policy for multi-millennial climate and sea-level change}, series = {Nature climate change}, volume = {6}, journal = {Nature climate change}, publisher = {Nature Publ. Group}, address = {London}, issn = {1758-678X}, doi = {10.1038/NCLIMATE2923}, pages = {360 -- 369}, year = {2016}, abstract = {Most of the policy debate surrounding the actions needed to mitigate and adapt to anthropogenic climate change has been framed by observations of the past 150 years as well as climate and sea-level projections for the twenty-first century. The focus on this 250-year window, however, obscures some of the most profound problems associated with climate change. Here, we argue that the twentieth and twenty-first centuries, a period during which the overwhelming majority of human-caused carbon emissions are likely to occur, need to be placed into a long-term context that includes the past 20 millennia, when the last Ice Age ended and human civilization developed, and the next ten millennia, over which time the projected impacts of anthropogenic climate change will grow and persist. This long-term perspective illustrates that policy decisions made in the next few years to decades will have profound impacts on global climate, ecosystems and human societies - not just for this century, but for the next ten millennia and beyond.}, language = {en} } @article{SellbergMcQueenLaksmonoetal.2015, author = {Sellberg, Jonas A. and McQueen, Trevor A. and Laksmono, Hartawan and Schreck, Simon and Beye, Martin and DePonte, Daniel P. and Kennedy, Brian and Nordlund, Dennis and Sierra, Raymond G. and Schlesinger, Daniel and Tokushima, Takashi and Zhovtobriukh, Iurii and Eckert, Sebastian and Segtnan, Vegard H. and Ogasawara, Hirohito and Kubicek, Katharina and Techert, Simone and Bergmann, Uwe and Dakovski, Georgi L. and Schlotter, William F. and Harada, Yoshihisa and Bogan, Michael J. and Wernet, Philippe and F{\"o}hlisch, Alexander and Pettersson, Lars G. M. and Nilsson, Anders}, title = {X-ray emission spectroscopy of bulk liquid water in "no-man's land"}, series = {The journal of chemical physics : bridges a gap between journals of physics and journals of chemistr}, volume = {142}, journal = {The journal of chemical physics : bridges a gap between journals of physics and journals of chemistr}, number = {4}, publisher = {American Institute of Physics}, address = {Melville}, issn = {0021-9606}, doi = {10.1063/1.4905603}, pages = {9}, year = {2015}, abstract = {The structure of bulk liquid water was recently probed by x-ray scattering below the temperature limit of homogeneous nucleation (T-H) of similar to 232 K [J. A. Sellberg et al., Nature 510, 381-384 (2014)]. Here, we utilize a similar approach to study the structure of bulk liquid water below T-H using oxygen K-edge x-ray emission spectroscopy (XES). Based on previous XES experiments [T. Tokushima et al., Chem. Phys. Lett. 460, 387-400 (2008)] at higher temperatures, we expected the ratio of the 1b(1)' and 1b(1)" peaks associated with the lone-pair orbital in water to change strongly upon deep supercooling as the coordination of the hydrogen (H-) bonds becomes tetrahedral. In contrast, we observed only minor changes in the lone-pair spectral region, challenging an interpretation in terms of two interconverting species. A number of alternative hypotheses to explain the results are put forward and discussed. Although the spectra can be explained by various contributions from these hypotheses, we here emphasize the interpretation that the line shape of each component changes dramatically when approaching lower temperatures, where, in particular, the peak assigned to the proposed disordered component would become more symmetrical as vibrational interference becomes more important. (C) 2015 AIP Publishing LLC.}, language = {en} } @article{SchreckBeyeSellbergetal.2014, author = {Schreck, Simon and Beye, Martin and Sellberg, Jonas A. and McQueen, Trevor and Laksmono, Hartawan and Kennedy, Brian and Eckert, Sebastian and Schlesinger, Daniel and Nordlund, Dennis and Ogasawara, Hirohito and Sierra, Raymond G. and Segtnan, Vegard H. and Kubicek, Katharina and Schlotter, William F. and Dakovski, Georgi L. and Moeller, Stefan P. and Bergmann, Uwe and Techert, Simone and Pettersson, Lars G. M. and Wernet, Philippe and Bogan, Michael J. and Harada, Yoshihisa and Nilsson, Anders and F{\"o}hlisch, Alexander}, title = {Reabsorption of soft x-ray emission at high x-ray free-electron laserfluences}, series = {Physical review letters}, volume = {113}, journal = {Physical review letters}, number = {15}, publisher = {American Physical Society}, address = {College Park}, issn = {0031-9007}, doi = {10.1103/PhysRevLett.113.153002}, pages = {6}, year = {2014}, abstract = {We report on oxygen K-edge soft x-ray emission spectroscopy from a liquid water jet at the Linac Coherent Light Source. We observe significant changes in the spectral content when tuning over a wide range of incident x-ray fluences. In addition the total emission yield decreases at high fluences. These modifications result from reabsorption of x-ray emission by valence-excited molecules generated by the Auger cascade. Our observations have major implications for future x-ray emission studies at intense x-ray sources. We highlight the importance of the x-ray pulse length with respect to the core-hole lifetime.}, language = {en} }