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Language
- English (6)
Is part of the Bibliography
- yes (6)
Keywords
- acute kidney injury (2)
- end-stage kidney disease (2)
- genome-wide association (2)
- rapid eGFRcrea decline (2)
- study (2)
- BRCA1 (1)
- ISM: individual objects (RX J1713.7-3946, G347.3-0.5) (1)
- breast-cancer (1)
- clinical exome (1)
- cosmic rays (1)
Prospects for Cherenkov Telescope Array Observations of the Young Supernova Remnant RX J1713.7-3946
(2017)
Acero, F. ; Aloisio, R. ; Amans, J. ; Amato, Elena ; Antonelli, L. A. ; Aramo, C. ; Armstrong, T. ; Arqueros, F. ; Asano, Katsuaki ; Ashley, M. ; Backes, M. ; Balazs, C. ; Balzer, A. ; Bamba, Aya ; Barkov, Maxim ; Barrio, J. A. ; Benbow, Wystan ; Bernloehr, K. ; Beshley, V. ; Bigongiari, C. ; Biland, A. ; Bilinsky, A. ; Bissaldi, Elisabetta ; Biteau, J. ; Blanch, O. ; Blasi, P. ; Blazek, J. ; Boisson, C. ; Bonanno, G. ; Bonardi, A. ; Bonavolonta, C. ; Bonnoli, G. ; Braiding, C. ; Brau-Nogue, S. ; Bregeon, J. ; Brown, A. M. ; Bugaev, V. ; Bulgarelli, A. ; Bulik, T. ; Burton, Michael ; Burtovoi, A. ; Busetto, G. ; Bottcher, M. ; Cameron, R. ; Capalbi, M. ; Caproni, Anderson ; Caraveo, P. ; Carosi, R. ; Cascone, E. ; Cerruti, M. ; Chaty, Sylvain ; Chen, A. ; Chen, X. ; Chernyakova, M. ; Chikawa, M. ; Chudoba, J. ; Cohen-Tanugi, J. ; Colafrancesco, S. ; Conforti, V. ; Contreras, J. L. ; Costa, A. ; Cotter, G. ; Covino, Stefano ; Covone, G. ; Cumani, P. ; Cusumano, G. ; Daniel, M. ; Dazzi, F. ; De Angelis, A. ; De Cesare, G. ; De Franco, A. ; De Frondat, F. ; Dal Pino, E. M. de Gouveia ; De Lisio, C. ; Lopez, R. de los Reyes ; De Lotto, B. ; de Naurois, M. ; De Palma, F. ; Del Santo, M. ; Delgado, C. ; della Volpe, D. ; Di Girolamo, T. ; Di Giulio, C. ; Di Pierro, F. ; Di Venere, L. ; Doro, M. ; Dournaux, J. ; Dumas, D. ; Dwarkadas, Vikram V. ; Diaz, C. ; Ebr, J. ; Egberts, Kathrin ; Einecke, S. ; Elsaesser, D. ; Eschbach, S. ; Falceta-Goncalves, D. ; Fasola, G. ; Fedorova, E. ; Fernandez-Barral, A. ; Ferrand, Gilles ; Fesquet, M. ; Fiandrini, E. ; Fiasson, A. ; Filipovic, Miroslav D. ; Fioretti, V. ; Font, L. ; Fontaine, Gilles ; Franco, F. J. ; Freixas Coromina, L. ; Fujita, Yutaka ; Fukui, Y. ; Funk, S. ; Forster, A. ; Gadola, A. ; Lopez, R. Garcia ; Garczarczyk, M. ; Giglietto, N. ; Giordano, F. ; Giuliani, A. ; Glicenstein, J. ; Gnatyk, R. ; Goldoni, P. ; Grabarczyk, T. ; Graciani, R. ; Graham, J. ; Grandi, P. ; Granot, Jonathan ; Green, A. J. ; Griffiths, S. ; Gunji, S. ; Hakobyan, H. ; Hara, S. ; Hassan, T. ; Hayashida, M. ; Heller, M. ; Helo, J. C. ; Hinton, J. ; Hnatyk, B. ; Huet, J. ; Huetten, M. ; Humensky, T. B. ; Hussein, M. ; Horandel, J. ; Ikeno, Y. ; Inada, T. ; Inome, Y. ; Inoue, S. ; Inoue, T. ; Inoue, Y. ; Ioka, K. ; Iori, Maurizio ; Jacquemier, J. ; Janecek, P. ; Jankowsky, D. ; Jung, I. ; Kaaret, P. ; Katagiri, H. ; Kimeswenger, S. ; Kimura, Shigeo S. ; Knodlseder, J. ; Koch, B. ; Kocot, J. ; Kohri, K. ; Komin, N. ; Konno, Y. ; Kosack, K. ; Koyama, S. ; Kraus, Michaela ; Kubo, Hidetoshi ; Mezek, G. Kukec ; Kushida, J. ; La Palombara, N. ; Lalik, K. ; Lamanna, G. ; Landt, H. ; Lapington, J. ; Laporte, P. ; Lee, S. ; Lees, J. ; Lefaucheur, J. ; Lenain, J. -P. ; Leto, Giuseppe ; Lindfors, E. ; Lohse, T. ; Lombardi, S. ; Longo, F. ; Lopez, M. ; Lucarelli, F. ; Luque-Escamilla, Pedro Luis ; Lopez-Coto, R. ; Maccarone, M. C. ; Maier, G. ; Malaguti, G. ; Mandat, D. ; Maneva, G. ; Mangano, S. ; Marcowith, Alexandre ; Marti, J. ; Martinez, M. ; Martinez, G. ; Masuda, S. ; Maurin, G. ; Maxted, N. ; Melioli, Claudio ; Mineo, T. ; Mirabal, N. ; Mizuno, T. ; Moderski, R. ; Mohammed, M. ; Montaruli, T. ; Moralejo, A. ; Mori, K. ; Morlino, G. ; Morselli, A. ; Moulin, Emmanuel ; Mukherjee, R. ; Mundell, C. ; Muraishi, H. ; Murase, Kohta ; Nagataki, Shigehiro ; Nagayoshi, T. ; Naito, T. ; Nakajima, D. ; Nakamori, T. ; Nemmen, R. ; Niemiec, Jacek ; Nieto, D. ; Nievas-Rosillo, M. ; Nikolajuk, M. ; Nishijima, K. ; Noda, K. ; Nogues, L. ; Nosek, D. ; Novosyadlyj, B. ; Nozaki, S. ; Ohira, Yutaka ; Ohishi, M. ; Ohm, S. ; Okumura, A. ; Ong, R. A. ; Orito, R. ; Orlati, A. ; Ostrowski, M. ; Oya, I. ; Padovani, Marco ; Palacio, J. ; Palatka, M. ; Paredes, Josep M. ; Pavy, S. ; Persic, M. ; Petrucci, P. ; Petruk, Oleh ; Pisarski, A. ; Pohl, Martin ; Porcelli, A. ; Prandini, E. ; Prast, J. ; Principe, G. ; Prouza, M. ; Pueschel, Elisa ; Puelhofer, G. ; Quirrenbach, A. ; Rameez, M. ; Reimer, O. ; Renaud, M. ; Ribo, M. ; Rico, J. ; Rizi, V. ; Rodriguez, J. ; Fernandez, G. Rodriguez ; Rodriguez Vazquez, J. J. ; Romano, Patrizia ; Romeo, G. ; Rosado, J. ; Rousselle, J. ; Rowell, G. ; Rudak, B. ; Sadeh, I. ; Safi-Harb, S. ; Saito, T. ; Sakaki, N. ; Sanchez, D. ; Sangiorgi, P. ; Sano, H. ; Santander, M. ; Sarkar, S. ; Sawada, M. ; Schioppa, E. J. ; Schoorlemmer, H. ; Schovanek, P. ; Schussler, F. ; Sergijenko, O. ; Servillat, M. ; Shalchi, A. ; Shellard, R. C. ; Siejkowski, H. ; Sillanpaa, A. ; Simone, D. ; Sliusar, V. ; Sol, H. ; Stanic, S. ; Starling, R. ; Stawarz, L. ; Stefanik, S. ; Stephan, M. ; Stolarczyk, T. ; Szanecki, M. ; Szepieniec, T. ; Tagliaferri, G. ; Tajima, H. ; Takahashi, M. ; Takeda, J. ; Tanaka, M. ; Tanaka, S. ; Tejedor, L. A. ; Telezhinsky, Igor O. ; Temnikov, P. ; Terada, Y. ; Tescaro, D. ; Teshima, M. ; Testa, V. ; Thoudam, S. ; Tokanai, F. ; Torres, D. F. ; Torresi, E. ; Tosti, G. ; Townsley, C. ; Travnicek, P. ; Trichard, C. ; Trifoglio, M. ; Tsujimoto, S. ; Vagelli, V. ; Vallania, P. ; Valore, L. ; van Driel, W. ; van Eldik, C. ; Vandenbroucke, Justin ; Vassiliev, V. ; Vecchi, M. ; Vercellone, Stefano ; Vergani, S. ; Vigorito, C. ; Vorobiov, S. ; Vrastil, M. ; Vazquez Acosta, M. L. ; Wagner, S. J. ; Wagner, R. ; Wakely, S. P. ; Walter, R. ; Ward, J. E. ; Watson, J. J. ; Weinstein, A. ; White, M. ; White, R. ; Wierzcholska, A. ; Wilcox, P. ; Williams, D. A. ; Wischnewski, R. ; Wojcik, P. ; Yamamoto, T. ; Yamamoto, H. ; Yamazaki, Ryo ; Yanagita, S. ; Yang, L. ; Yoshida, T. ; Yoshida, M. ; Yoshiike, S. ; Yoshikoshi, T. ; Zacharias, M. ; Zampieri, L. ; Zanin, R. ; Zavrtanik, M. ; Zavrtanik, D. ; Zdziarski, A. ; Zech, Alraune ; Zechlin, Hannes ; Zhdanov, V. ; Ziegler, A. ; Zorn, J.
We perform simulations for future Cherenkov Telescope Array (CTA) observations of RX J1713.7-3946, a young supernova remnant (SNR) and one of the brightest sources ever discovered in very high energy (VHE) gamma rays. Special attention is paid to exploring possible spatial (anti) correlations of gamma rays with emission at other wavelengths, in particular X-rays and CO/H I emission. We present a series of simulated images of RX J1713.7-3946 for CTA based on a set of observationally motivated models for the gamma-ray emission. In these models, VHE gamma rays produced by high-energy electrons are assumed to trace the nonthermal X-ray emission observed by XMM-Newton, whereas those originating from relativistic protons delineate the local gas distributions. The local atomic and molecular gas distributions are deduced by the NANTEN team from CO and H I observations. Our primary goal is to show how one can distinguish the emission mechanism(s) of the gamma rays (i.e., hadronic versus leptonic, or a mixture of the two) through information provided by their spatial distribution, spectra, and time variation. This work is the first attempt to quantitatively evaluate the capabilities of CTA to achieve various proposed scientific goals by observing this important cosmic particle accelerator.
A catalog of genetic loci associated with kidney function from analyses of a million individuals
(2019)
Wuttke, Matthias ; Li, Yong ; Li, Man ; Sieber, Karsten B. ; Feitosa, Mary F. ; Gorski, Mathias ; Tin, Adrienne ; Wang, Lihua ; Chu, Audrey Y. ; Hoppmann, Anselm ; Kirsten, Holger ; Giri, Ayush ; Chai, Jin-Fang ; Sveinbjornsson, Gardar ; Tayo, Bamidele O. ; Nutile, Teresa ; Fuchsberger, Christian ; Marten, Jonathan ; Cocca, Massimiliano ; Ghasemi, Sahar ; Xu, Yizhe ; Horn, Katrin ; Noce, Damia ; Van der Most, Peter J. ; Sedaghat, Sanaz ; Yu, Zhi ; Akiyama, Masato ; Afaq, Saima ; Ahluwalia, Tarunveer Singh ; Almgren, Peter ; Amin, Najaf ; Arnlov, Johan ; Bakker, Stephan J. L. ; Bansal, Nisha ; Baptista, Daniela ; Bergmann, Sven ; Biggs, Mary L. ; Biino, Ginevra ; Boehnke, Michael ; Boerwinkle, Eric ; Boissel, Mathilde ; Böttinger, Erwin ; Boutin, Thibaud S. ; Brenner, Hermann ; Brumat, Marco ; Burkhardt, Ralph ; Butterworth, Adam S. ; Campana, Eric ; Campbell, Archie ; Campbell, Harry ; Canouil, Mickael ; Carroll, Robert J. ; Catamo, Eulalia ; Chambers, John C. ; Chee, Miao-Ling ; Chee, Miao-Li ; Chen, Xu ; Cheng, Ching-Yu ; Cheng, Yurong ; Christensen, Kaare ; Cifkova, Renata ; Ciullo, Marina ; Concas, Maria Pina ; Cook, James P. ; Coresh, Josef ; Corre, Tanguy ; Sala, Cinzia Felicita ; Cusi, Daniele ; Danesh, John ; Daw, E. Warwick ; De Borst, Martin H. ; De Grandi, Alessandro ; De Mutsert, Renee ; De Vries, Aiko P. J. ; Degenhardt, Frauke ; Delgado, Graciela ; Demirkan, Ayse ; Di Angelantonio, Emanuele ; Dittrich, Katalin ; Divers, Jasmin ; Dorajoo, Rajkumar ; Eckardt, Kai-Uwe ; Ehret, Georg ; Elliott, Paul ; Endlich, Karlhans ; Evans, Michele K. ; Felix, Janine F. ; Foo, Valencia Hui Xian ; Franco, Oscar H. ; Franke, Andre ; Freedman, Barry I. ; Freitag-Wolf, Sandra ; Friedlander, Yechiel ; Froguel, Philippe ; Gansevoort, Ron T. ; Gao, He ; Gasparini, Paolo ; Gaziano, J. Michael ; Giedraitis, Vilmantas ; Gieger, Christian ; Girotto, Giorgia ; Giulianini, Franco ; Gogele, Martin ; Gordon, Scott D. ; Gudbjartsson, Daniel F. ; Gudnason, Vilmundur ; Haller, Toomas ; Hamet, Pavel ; Harris, Tamara B. ; Hartman, Catharina A. ; Hayward, Caroline ; Hellwege, Jacklyn N. ; Heng, Chew-Kiat ; Hicks, Andrew A. ; Hofer, Edith ; Huang, Wei ; Hutri-Kahonen, Nina ; Hwang, Shih-Jen ; Ikram, M. Arfan ; Indridason, Olafur S. ; Ingelsson, Erik ; Ising, Marcus ; Jaddoe, Vincent W. V. ; Jakobsdottir, Johanna ; Jonas, Jost B. ; Joshi, Peter K. ; Josyula, Navya Shilpa ; Jung, Bettina ; Kahonen, Mika ; Kamatani, Yoichiro ; Kammerer, Candace M. ; Kanai, Masahiro ; Kastarinen, Mika ; Kerr, Shona M. ; Khor, Chiea-Chuen ; Kiess, Wieland ; Kleber, Marcus E. ; Koenig, Wolfgang ; Kooner, Jaspal S. ; Korner, Antje ; Kovacs, Peter ; Kraja, Aldi T. ; Krajcoviechova, Alena ; Kramer, Holly ; Kramer, Bernhard K. ; Kronenberg, Florian ; Kubo, Michiaki ; Kuhnel, Brigitte ; Kuokkanen, Mikko ; Kuusisto, Johanna ; La Bianca, Martina ; Laakso, Markku ; Lange, Leslie A. ; Langefeld, Carl D. ; Lee, Jeannette Jen-Mai ; Lehne, Benjamin ; Lehtimaki, Terho ; Lieb, Wolfgang ; Lim, Su-Chi ; Lind, Lars ; Lindgren, Cecilia M. ; Liu, Jun ; Liu, Jianjun ; Loeffler, Markus ; Loos, Ruth J. F. ; Lucae, Susanne ; Lukas, Mary Ann ; Lyytikainen, Leo-Pekka ; Magi, Reedik ; Magnusson, Patrik K. E. ; Mahajan, Anubha ; Martin, Nicholas G. ; Martins, Jade ; Marz, Winfried ; Mascalzoni, Deborah ; Matsuda, Koichi ; Meisinger, Christa ; Meitinger, Thomas ; Melander, Olle ; Metspalu, Andres ; Mikaelsdottir, Evgenia K. ; Milaneschi, Yuri ; Miliku, Kozeta ; Mishra, Pashupati P. ; Program, V. A. Million Veteran ; Mohlke, Karen L. ; Mononen, Nina ; Montgomery, Grant W. ; Mook-Kanamori, Dennis O. ; Mychaleckyj, Josyf C. ; Nadkarni, Girish N. ; Nalls, Mike A. ; Nauck, Matthias ; Nikus, Kjell ; Ning, Boting ; Nolte, Ilja M. ; Noordam, Raymond ; Olafsson, Isleifur ; Oldehinkel, Albertine J. ; Orho-Melander, Marju ; Ouwehand, Willem H. ; Padmanabhan, Sandosh ; Palmer, Nicholette D. ; Palsson, Runolfur ; Penninx, Brenda W. J. H. ; Perls, Thomas ; Perola, Markus ; Pirastu, Mario ; Pirastu, Nicola ; Pistis, Giorgio ; Podgornaia, Anna I. ; Polasek, Ozren ; Ponte, Belen ; Porteous, David J. ; Poulain, Tanja ; Pramstaller, Peter P. ; Preuss, Michael H. ; Prins, Bram P. ; Province, Michael A. ; Rabelink, Ton J. ; Raffield, Laura M. ; Raitakari, Olli T. ; Reilly, Dermot F. ; Rettig, Rainer ; Rheinberger, Myriam ; Rice, Kenneth M. ; Ridker, Paul M. ; Rivadeneira, Fernando ; Rizzi, Federica ; Roberts, David J. ; Robino, Antonietta ; Rossing, Peter ; Rudan, Igor ; Rueedi, Rico ; Ruggiero, Daniela ; Ryan, Kathleen A. ; Saba, Yasaman ; Sabanayagam, Charumathi ; Salomaa, Veikko ; Salvi, Erika ; Saum, Kai-Uwe ; Schmidt, Helena ; Schmidt, Reinhold ; Ben Schottker ; Schulz, Christina-Alexandra ; Schupf, Nicole ; Shaffer, Christian M. ; Shi, Yuan ; Smith, Albert V. ; Smith, Blair H. ; Soranzo, Nicole ; Spracklen, Cassandra N. ; Strauch, Konstantin ; Stringham, Heather M. ; Stumvoll, Michael ; Svensson, Per O. ; Szymczak, Silke ; Tai, E-Shyong ; Tajuddin, Salman M. ; Tan, Nicholas Y. Q. ; Taylor, Kent D. ; Teren, Andrej ; Tham, Yih-Chung ; Thiery, Joachim ; Thio, Chris H. L. ; Thomsen, Hauke ; Thorleifsson, Gudmar ; Toniolo, Daniela ; Tonjes, Anke ; Tremblay, Johanne ; Tzoulaki, Ioanna ; Uitterlinden, Andre G. ; Vaccargiu, Simona ; Van Dam, Rob M. ; Van der Harst, Pim ; Van Duijn, Cornelia M. ; Edward, Digna R. Velez ; Verweij, Niek ; Vogelezang, Suzanne ; Volker, Uwe ; Vollenweider, Peter ; Waeber, Gerard ; Waldenberger, Melanie ; Wallentin, Lars ; Wang, Ya Xing ; Wang, Chaolong ; Waterworth, Dawn M. ; Bin Wei, Wen ; White, Harvey ; Whitfield, John B. ; Wild, Sarah H. ; Wilson, James F. ; Wojczynski, Mary K. ; Wong, Charlene ; Wong, Tien-Yin ; Xu, Liang ; Yang, Qiong ; Yasuda, Masayuki ; Yerges-Armstrong, Laura M. ; Zhang, Weihua ; Zonderman, Alan B. ; Rotter, Jerome I. ; Bochud, Murielle ; Psaty, Bruce M. ; Vitart, Veronique ; Wilson, James G. ; Dehghan, Abbas ; Parsa, Afshin ; Chasman, Daniel I. ; Ho, Kevin ; Morris, Andrew P. ; Devuyst, Olivier ; Akilesh, Shreeram ; Pendergrass, Sarah A. ; Sim, Xueling ; Boger, Carsten A. ; Okada, Yukinori ; Edwards, Todd L. ; Snieder, Harold ; Stefansson, Kari ; Hung, Adriana M. ; Heid, Iris M. ; Scholz, Markus ; Teumer, Alexander ; Kottgen, Anna ; Pattaro, Cristian
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.
Van Hout, Cristopher V. ; Tachmazidou, Ioanna ; Backman, Joshua D. ; Hoffman, Joshua D. ; Liu, Daren ; Pandey, Ashutosh K. ; Gonzaga-Jauregui, Claudia ; Khalid, Shareef ; Ye, Bin ; Banerjee, Nilanjana ; Li, Alexander H. ; O'Dushlaine, Colm ; Marcketta, Anthony ; Staples, Jeffrey ; Schurmann, Claudia ; Hawes, Alicia ; Maxwell, Evan ; Barnard, Leland ; Lopez, Alexander ; Penn, John ; Habegger, Lukas ; Blumenfeld, Andrew L. ; Bai, Xiaodong ; O'Keeffe, Sean ; Yadav, Ashish ; Praveen, Kavita ; Jones, Marcus ; Salerno, William J. ; Chung, Wendy K. ; Surakka, Ida ; Willer, Cristen J. ; Hveem, Kristian ; Leader, Joseph B. ; Carey, David J. ; Ledbetter, David H. ; Cardon, Lon ; Yancopoulos, George D. ; Economides, Aris ; Coppola, Giovanni ; Shuldiner, Alan R. ; Balasubramanian, Suganthi ; Cantor, Michael ; Nelson, Matthew R. ; Whittaker, John ; Reid, Jeffrey G. ; Marchini, Jonathan ; Overton, John D. ; Scott, Robert A. ; Abecasis, Goncalo R. ; Yerges-Armstrong, Laura M. ; Baras, Aris
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. <br /> 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.
Gorski, Mathias ; Jung, Bettina ; Li, Yong ; Matias-Garcia, Pamela R. ; Wuttke, Matthias ; Coassin, Stefan ; Thio, Chris H. L. ; Kleber, Marcus E. ; Winkler, Thomas W. ; Wanner, Veronika ; Chai, Jin-Fang ; Chu, Audrey Y. ; Cocca, Massimiliano ; Feitosa, Mary F. ; Ghasemi, Sahar ; Hoppmann, Anselm ; Horn, Katrin ; Li, Man ; Nutile, Teresa ; Scholz, Markus ; Sieber, Karsten B. ; Teumer, Alexander ; Tin, Adrienne ; Wang, Judy ; Tayo, Bamidele O. ; Ahluwalia, Tarunveer S. ; Almgren, Peter ; Bakker, Stephan J. L. ; Banas, Bernhard ; Bansal, Nisha ; Biggs, Mary L. ; Boerwinkle, Eric ; Böttinger, Erwin ; Brenner, Hermann ; Carroll, Robert J. ; Chalmers, John ; Chee, Miao-Li ; Chee, Miao-Ling ; Cheng, Ching-Yu ; Coresh, Josef ; de Borst, Martin H. ; Degenhardt, Frauke ; Eckardt, Kai-Uwe ; Endlich, Karlhans ; Franke, Andre ; Freitag-Wolf, Sandra ; Gampawar, Piyush ; Gansevoort, Ron T. ; Ghanbari, Mohsen ; Gieger, Christian ; Hamet, Pavel ; Ho, Kevin ; Hofer, Edith ; Holleczek, Bernd ; Foo, Valencia Hui Xian ; Hutri-Kahonen, Nina ; Hwang, Shih-Jen ; Ikram, M. Arfan ; Josyula, Navya Shilpa ; Kahonen, Mika ; Khor, Chiea-Chuen ; Koenig, Wolfgang ; Kramer, Holly ; Kraemer, Bernhard K. ; Kuehnel, Brigitte ; Lange, Leslie A. ; Lehtimaki, Terho ; Lieb, Wolfgang ; Loos, Ruth J. F. ; Lukas, Mary Ann ; Lyytikainen, Leo-Pekka ; Meisinger, Christa ; Meitinger, Thomas ; Melander, Olle ; Milaneschi, Yuri ; Mishra, Pashupati P. ; Mononen, Nina ; Mychaleckyj, Josyf C. ; Nadkarni, Girish N. ; Nauck, Matthias ; Nikus, Kjell ; Ning, Boting ; Nolte, Ilja M. ; O'Donoghue, Michelle L. ; Orho-Melander, Marju ; Pendergrass, Sarah A. ; Penninx, Brenda W. J. H. ; Preuss, Michael H. ; Psaty, Bruce M. ; Raffield, Laura M. ; Raitakari, Olli T. ; Rettig, Rainer ; Rheinberger, Myriam ; Rice, Kenneth M. ; Rosenkranz, Alexander R. ; Rossing, Peter ; Rotter, Jerome ; Sabanayagam, Charumathi ; Schmidt, Helena ; Schmidt, Reinhold ; Schoettker, Ben ; Schulz, Christina-Alexandra ; Sedaghat, Sanaz ; Shaffer, Christian M. ; Strauch, Konstantin ; Szymczak, Silke ; Taylor, Kent D. ; Tremblay, Johanne ; Chaker, Layal ; van der Harst, Pim ; van der Most, Peter J. ; Verweij, Niek ; Voelker, Uwe ; Waldenberger, Melanie ; Wallentin, Lars ; Waterworth, Dawn M. ; White, Harvey D. ; Wilson, James G. ; Wong, Tien-Yin ; Woodward, Mark ; Yang, Qiong ; Yasuda, Masayuki ; Yerges-Armstrong, Laura M. ; Zhang, Yan ; Snieder, Harold ; Wanner, Christoph ; Boger, Carsten A. ; Kottgen, Anna ; Kronenberg, Florian ; Pattaro, Cristian ; Heid, Iris M.
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.
Gorski, Mathias ; Jung, Bettina ; Li, Yong ; Matias-Garcia, Pamela R. ; Wuttke, Matthias ; Coassin, Stefan ; Thio, Chris H. L. ; Kleber, Marcus E. ; Winkler, Thomas W. ; Wanner, Veronika ; Chai, Jin-Fang ; Chu, Audrey Y. ; Cocca, Massimiliano ; Feitosa, Mary F. ; Ghasemi, Sahar ; Hoppmann, Anselm ; Horn, Katrin ; Li, Man ; Nutile, Teresa ; Scholz, Markus ; Sieber, Karsten B. ; Teumer, Alexander ; Tin, Adrienne ; Wang, Judy ; Tayo, Bamidele O. ; Ahluwalia, Tarunveer S. ; Almgren, Peter ; Bakker, Stephan J. L. ; Banas, Bernhard ; Bansal, Nisha ; Biggs, Mary L. ; Boerwinkle, Eric ; Böttinger, Erwin ; Brenner, Hermann ; Carroll, Robert J. ; Chalmers, John ; Chee, Miao-Li ; Chee, Miao-Ling ; Cheng, Ching-Yu ; Coresh, Josef ; de Borst, Martin H. ; Degenhardt, Frauke ; Eckardt, Kai-Uwe ; Endlich, Karlhans ; Franke, Andre ; Freitag-Wolf, Sandra ; Gampawar, Piyush ; Gansevoort, Ron T. ; Ghanbari, Mohsen ; Gieger, Christian ; Hamet, Pavel ; Ho, Kevin ; Hofer, Edith ; Holleczek, Bernd ; Foo, Valencia Hui Xian ; Hutri-Kahonen, Nina ; Hwang, Shih-Jen ; Ikram, M. Arfan ; Josyula, Navya Shilpa ; Kahonen, Mika ; Khor, Chiea-Chuen ; Koenig, Wolfgang ; Kramer, Holly ; Kraemer, Bernhard K. ; Kuehnel, Brigitte ; Lange, Leslie A. ; Lehtimaki, Terho ; Lieb, Wolfgang ; Loos, Ruth J. F. ; Lukas, Mary Ann ; Lyytikainen, Leo-Pekka ; Meisinger, Christa ; Meitinger, Thomas ; Melander, Olle ; Milaneschi, Yuri ; Mishra, Pashupati P. ; Mononen, Nina ; Mychaleckyj, Josyf C. ; Nadkarni, Girish N. ; Nauck, Matthias ; Nikus, Kjell ; Ning, Boting ; Nolte, Ilja M. ; O'Donoghue, Michelle L. ; Orho-Melander, Marju ; Pendergrass, Sarah A. ; Penninx, Brenda W. J. H. ; Preuss, Michael H. ; Psaty, Bruce M. ; Raffield, Laura M. ; Raitakari, Olli T. ; Rettig, Rainer ; Rheinberger, Myriam ; Rice, Kenneth M. ; Rosenkranz, Alexander R. ; Rossing, Peter ; Rotter, Jerome ; Sabanayagam, Charumathi ; Schmidt, Helena ; Schmidt, Reinhold ; Schoettker, Ben ; Schulz, Christina-Alexandra ; Sedaghat, Sanaz ; Shaffer, Christian M. ; Strauch, Konstantin ; Szymczak, Silke ; Taylor, Kent D. ; Tremblay, Johanne ; Chaker, Layal ; van der Harst, Pim ; van der Most, Peter J. ; Verweij, Niek ; Voelker, Uwe ; Waldenberger, Melanie ; Wallentin, Lars ; Waterworth, Dawn M. ; White, Harvey D. ; Wilson, James G. ; Wong, Tien-Yin ; Woodward, Mark ; Yang, Qiong ; Yasuda, Masayuki ; Yerges-Armstrong, Laura M. ; Zhang, Yan ; Snieder, Harold ; Wanner, Christoph ; Boger, Carsten A. ; Kottgen, Anna ; Kronenberg, Florian ; Pattaro, Cristian ; Heid, Iris M.
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.
Armstrong, Michael R. ; Radousky, Harry B. ; Austin, Ryan A. ; Tschauner, Oliver ; Brown, Shaughnessy ; Gleason, Arianna E. ; Goldman, Nir ; Granados, Eduardo ; Grivickas, Paulius ; Holtgrewe, Nicholas ; Kroonblawd, Matthew P. ; Lee, Hae Ja ; Lobanov, Sergey S. ; Nagler, Bob ; Nam, Inhyuk ; Prakapenka, Vitali ; Prescher, Clemens ; Reed, Evan J. ; Stavrou, Elissaios ; Walter, Peter ; Goncharov, Alexander F. ; Belof, Jonathan L.
The response of rapidly compressed highly oriented pyrolytic graphite (HOPG) normal to its basal plane was investigated at a pressure of & SIM;80 GPa. Ultrafast x-ray diffraction using & SIM;100 fs pulses at the Materials Under Extreme Conditions sector of the Linac Coherent Light Source was used to probe the changes in crystal structure resulting from picosecond timescale compression at laser drive energies ranging from 2.5 to 250 mJ. A phase transformation from HOPG to a highly textured hexagonal diamond structure is observed at the highest energy, followed by relaxation to a still highly oriented, but distorted graphite structure following release. We observe the formation of a highly oriented lonsdaleite within 20 ps, subsequent to compression. This suggests that a diffusionless martensitic mechanism may play a fundamental role in phase transition, as speculated in an early work on this system, and more recent static studies of diamonds formed in impact events. Published by AIP Publishing.
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