@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{TangSullivanHongetal.2019,
author = {Tang, Alan T. and Sullivan, Katie Rose and Hong, Courtney C. and Goddard, Lauren M. and Mahadevan, Aparna and Ren, Aileen and Pardo, Heidy and Peiper, Amy and Griffin, Erin and Tanes, Ceylan and Mattei, Lisa M. and Yang, Jisheng and Li, Li and Mericko-Ishizuka, Patricia and Shen, Le and Hobson, Nicholas and Girard, Romuald and Lightle, Rhonda and Moore, Thomas and Shenkar, Robert and Polster, Sean P. and Roedel, Claudia Jasmin and Li, Ning and Zhu, Qin and Whitehead, Kevin J. and Zheng, Xiangjian and Akers, Amy and Morrison, Leslie and Kim, Helen and Bittinger, Kyle and Lengner, Christopher J. and Schwaninger, Markus and Velcich, Anna and Augenlicht, Leonard and Abdelilah-Seyfried, Salim and Min, Wang and Marchuk, Douglas A. and Awad, Issam A. and Kahn, Mark L.},
title = {Distinct cellular roles for PDCD10 define a gut-brain axis in cerebral cavernous malformation},
series = {Science Translational Medicine},
volume = {11},
journal = {Science Translational Medicine},
number = {520},
publisher = {American Assoc. for the Advancement of Science},
address = {Washington},
issn = {1946-6234},
doi = {10.1126/scitranslmed.aaw3521},
pages = {14},
year = {2019},
abstract = {Cerebral cavernous malformation (CCM) is a genetic, cerebrovascular disease. Familial CCM is caused by genetic mutations in KRIT1, CCM2, or PDCD10. Disease onset is earlier and more severe in individuals with PDCD10 mutations. Recent studies have shown that lesions arise from excess mitogen-activated protein kinase kinase kinase 3 (MEKK3) signaling downstream of Toll-like receptor 4 (TLR4) stimulation by lipopolysaccharide derived from the gut microbiome. These findings suggest a gut-brain CCM disease axis but fail to define it or explain the poor prognosis of patients with PDCD10 mutations. Here, we demonstrate that the gut barrier is a primary determinant of CCM disease course, independent of microbiome configuration, that explains the increased severity of CCM disease associated with PDCD10 deficiency. Chemical disruption of the gut barrier with dextran sulfate sodium augments CCM formation in a mouse model, as does genetic loss of Pdcd10, but not Krit1, in gut epithelial cells. Loss of gut epithelial Pdcd10 results in disruption of the colonic mucosal barrier. Accordingly, loss of Mucin-2 or exposure to dietary emulsifiers that reduce the mucus barrier increases CCM burden analogous to loss of Pdcd10 in the gut epithelium. Last, we show that treatment with dexamethasone potently inhibits CCM formation in mice because of the combined effect of action at both brain endothelial cells and gut epithelial cells. These studies define a gut-brain disease axis in an experimental model of CCM in which a single gene is required for two critical components: gut epithelial function and brain endothelial signaling.},
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{WarringtonBeaumontHorikoshietal.2019,
author = {Warrington, Nicole and Beaumont, Robin and Horikoshi, Momoko and Day, Felix R. and Helgeland, {\O}yvind and Laurin, Charles and Bacelis, Jonas and Peng, Shouneng and Hao, Ke and Feenstra, Bjarke and Wood, Andrew R. and Mahajan, Anubha and Tyrrell, Jessica and Robertson, Neil R. and Rayner, N. William and Qiao, Zhen and Moen, Gunn-Helen and Vaudel, Marc and Marsit, Carmen and Chen, Jia and Nodzenski, Michael and Schnurr, Theresia M. and Zafarmand, Mohammad Hadi and Bradfield, Jonathan P. and Grarup, Niels and Kooijman, Marjolein N. and Li-Gao, Ruifang and Geller, Frank and Ahluwalia, Tarunveer Singh and Paternoster, Lavinia and Rueedi, Rico and Huikari, Ville and Hottenga, Jouke-Jan and Lyytik{\"a}inen, Leo-Pekka and Cavadino, Alana and Metrustry, Sarah and Cousminer, Diana L. and Wu, Ying and Thiering, Elisabeth Paula and Wang, Carol A. and Have, Christian Theil and Vilor-Tejedor, Natalia and Joshi, Peter K. and Painter, Jodie N. and Ntalla, Ioanna and Myhre, Ronny and Pitk{\"a}nen, Niina and van Leeuwen, Elisabeth M. and Joro, Raimo and Lagou, Vasiliki and Richmond, Rebecca C. and Espinosa, Ana and Barton, Sheila J. and Inskip, Hazel M. and Holloway, John W. and Santa-Marina, Loreto and Estivill, Xavier and Ang, Wei and Marsh, Julie A. and Reichetzeder, Christoph and Marullo, Letizia and Hocher, Berthold and Lunetta, Kathryn L. and Murabito, Joanne M. and Relton, Caroline L. and Kogevinas, Manolis and Chatzi, Leda and Allard, Catherine and Bouchard, Luigi and Hivert, Marie-France and Zhang, Ge and Muglia, Louis J. and Heikkinen, Jani and Morgen, Camilla S. and van Kampen, Antoine H. C. and van Schaik, Barbera D. C. and Mentch, Frank D. and Langenberg, Claudia and Scott, Robert A. and Zhao, Jing Hua and Hemani, Gibran and Ring, Susan M. and Bennett, Amanda J. and Gaulton, Kyle J. and Fernandez-Tajes, Juan and van Zuydam, Natalie R. and Medina-Gomez, Carolina and de Haan, Hugoline G. and Rosendaal, Frits R. and Kutalik, Zolt{\´a}n and Marques-Vidal, Pedro and Das, Shikta and Willemsen, Gonneke and Mbarek, Hamdi and M{\"u}ller-Nurasyid, Martina and Standl, Marie and Appel, Emil V. R. and Fonvig, Cilius Esmann and Trier, Caecilie and van Beijsterveldt, Catharina E. M. and Murcia, Mario and Bustamante, Mariona and Bon{\`a}s-Guarch, S{\´i}lvia and Hougaard, David M. and Mercader, Josep M. and Linneberg, Allan and Schraut, Katharina E. and Lind, Penelope A. and Medland, Sarah Elizabeth and Shields, Beverley M. and Knight, Bridget A. and Chai, Jin-Fang and Panoutsopoulou, Kalliope and Bartels, Meike and S{\´a}nchez, Friman and Stokholm, Jakob and Torrents, David and Vinding, Rebecca K. and Willems, Sara M. and Atalay, Mustafa and Chawes, Bo L. and Kovacs, Peter and Prokopenko, Inga and Tuke, Marcus A. and Yaghootkar, Hanieh and Ruth, Katherine S. and Jones, Samuel E. and Loh, Po-Ru and Murray, Anna and Weedon, Michael N. and T{\"o}njes, Anke and Stumvoll, Michael and Michaelsen, Kim Fleischer and Eloranta, Aino-Maija and Lakka, Timo A. and van Duijn, Cornelia M. and Kiess, Wieland and Koerner, Antje and Niinikoski, Harri and Pahkala, Katja and Raitakari, Olli T. and Jacobsson, Bo and Zeggini, Eleftheria and Dedoussis, George V. and Teo, Yik-Ying and Saw, Seang-Mei and Montgomery, Grant W. and Campbell, Harry and Wilson, James F. and Vrijkotte, Tanja G. M. and Vrijheid, Martine and de Geus, Eco J. C. N. and Hayes, M. Geoffrey and Kadarmideen, Haja N. and Holm, Jens-Christian and Beilin, Lawrence J. and Pennell, Craig E. and Heinrich, Joachim and Adair, Linda S. and Borja, Judith B. and Mohlke, Karen L. and Eriksson, Johan G. and Widen, Elisabeth E. and Hattersley, Andrew T. and Spector, Tim D. and Kaehoenen, Mika and Viikari, Jorma S. and Lehtimaeki, Terho and Boomsma, Dorret I. and Sebert, Sylvain and Vollenweider, Peter and Sorensen, Thorkild I. A. and Bisgaard, Hans and Bonnelykke, Klaus and Murray, Jeffrey C. and Melbye, Mads and Nohr, Ellen A. and Mook-Kanamori, Dennis O. and Rivadeneira, Fernando and Hofman, Albert and Felix, Janine F. and Jaddoe, Vincent W. V. and Hansen, Torben and Pisinger, Charlotta and Vaag, Allan A. and Pedersen, Oluf and Uitterlinden, Andre G. and Jarvelin, Marjo-Riitta and Power, Christine and Hypponen, Elina and Scholtens, Denise M. and Lowe, William L. and Smith, George Davey and Timpson, Nicholas J. and Morris, Andrew P. and Wareham, Nicholas J. and Hakonarson, Hakon and Grant, Struan F. A. and Frayling, Timothy M. and Lawlor, Debbie A. and Njolstad, Pal R. and Johansson, Stefan and Ong, Ken K. and McCarthy, Mark I. and Perry, John R. B. and Evans, David M. and Freathy, Rachel M.},
title = {Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors},
series = {Nature genetics},
volume = {51},
journal = {Nature genetics},
number = {5},
publisher = {Nature Publ. Group},
address = {New York},
organization = {EGG Consortium},
issn = {1061-4036},
pages = {804 -- +},
year = {2019},
abstract = {Birth weight variation is influenced by fetal and maternal genetic and non-genetic factors, and has been reproducibly associated with future cardio-metabolic health outcomes. In expanded genome-wide association analyses of own birth weight (n = 321,223) and offspring birth weight (n = 230,069 mothers), we identified 190 independent association signals (129 of which are novel). We used structural equation modeling to decompose the contributions of direct fetal and indirect maternal genetic effects, then applied Mendelian randomization to illuminate causal pathways. For example, both indirect maternal and direct fetal genetic effects drive the observational relationship between lower birth weight and higher later blood pressure: maternal blood pressure-raising alleles reduce offspring birth weight, but only direct fetal effects of these alleles, once inherited, increase later offspring blood pressure. Using maternal birth weight-lowering genotypes to proxy for an adverse intrauterine environment provided no evidence that it causally raises offspring blood pressure, indicating that the inverse birth weight-blood pressure association is attributable to genetic effects, and not to intrauterine programming.},
language = {en}
}
@article{MiddeldorpMahajanHorikoshietal.2019,
author = {Middeldorp, Christel M. and Mahajan, Anubha and Horikoshi, Momoko and Robertson, Neil R. and Beaumont, Robin N. and Bradfield, Jonathan P. and Bustamante, Mariona and Cousminer, Diana L. and Day, Felix R. and De Silva, N. Maneka and Guxens, Monica and Mook-Kanamori, Dennis O. and St Pourcain, Beate and Warrington, Nicole M. and Adair, Linda S. and Ahlqvist, Emma and Ahluwalia, Tarunveer Singh and Almgren, Peter and Ang, Wei and Atalay, Mustafa and Auvinen, Juha and Bartels, Meike and Beckmann, Jacques S. and Bilbao, Jose Ramon and Bond, Tom and Borja, Judith B. and Cavadino, Alana and Charoen, Pimphen and Chen, Zhanghua and Coin, Lachlan and Cooper, Cyrus and Curtin, John A. and Custovic, Adnan and Das, Shikta and Davies, Gareth E. and Dedoussis, George V. and Duijts, Liesbeth and Eastwood, Peter R. and Eliasen, Anders U. and Elliott, Paul and Eriksson, Johan G. and Estivill, Xavier and Fadista, Joao and Fedko, Iryna O. and Frayling, Timothy M. and Gaillard, Romy and Gauderman, W. James and Geller, Frank and Gilliland, Frank and Gilsanz, Vincente and Granell, Raquel and Grarup, Niels and Groop, Leif and Hadley, Dexter and Hakonarson, Hakon and Hansen, Torben and Hartman, Catharina A. and Hattersley, Andrew T. and Hayes, M. Geoffrey and Hebebrand, Johannes and Heinrich, Joachim and Helgeland, Oyvind and Henders, Anjali K. and Henderson, John and Henriksen, Tine B. and Hirschhorn, Joel N. and Hivert, Marie-France and Hocher, Berthold and Holloway, John W. and Holt, Patrick and Hottenga, Jouke-Jan and Hypponen, Elina and Iniguez, Carmen and Johansson, Stefan and Jugessur, Astanand and Kahonen, Mika and Kalkwarf, Heidi J. and Kaprio, Jaakko and Karhunen, Ville and Kemp, John P. and Kerkhof, Marjan and Koppelman, Gerard H. and Korner, Antje and Kotecha, Sailesh and Kreiner-Moller, Eskil and Kulohoma, Benard and Kumar, Ashish and Kutalik, Zoltan and Lahti, Jari and Lappe, Joan M. and Larsson, Henrik and Lehtimaki, Terho and Lewin, Alexandra M. and Li, Jin and Lichtenstein, Paul and Lindgren, Cecilia M. and Lindi, Virpi and Linneberg, Allan and Liu, Xueping and Liu, Jun and Lowe, William L. and Lundstrom, Sebastian and Lyytikainen, Leo-Pekka and Ma, Ronald C. W. and Mace, Aurelien and Magi, Reedik and Magnus, Per and Mamun, Abdullah A. and Mannikko, Minna and Martin, Nicholas G. and Mbarek, Hamdi and McCarthy, Nina S. and Medland, Sarah E. and Melbye, Mads and Melen, Erik and Mohlke, Karen L. and Monnereau, Claire and Morgen, Camilla S. and Morris, Andrew P. and Murray, Jeffrey C. and Myhre, Ronny and Najman, Jackob M. and Nivard, Michel G. and Nohr, Ellen A. and Nolte, Ilja M. and Ntalla, Ioanna and Oberfield, Sharon E. and Oken, Emily and Oldehinkel, Albertine J. and Pahkala, Katja and Palviainen, Teemu and Panoutsopoulou, Kalliope and Pedersen, Oluf and Pennell, Craig E. and Pershagen, Goran and Pitkanen, Niina and Plomin, Robert and Power, Christine and Prasad, Rashmi B. and Prokopenko, Inga and Pulkkinen, Lea and Raikkonen, Katri and Raitakari, Olli T. and Reynolds, Rebecca M. and Richmond, Rebecca C. and Rivadeneira, Fernando and Rodriguez, Alina and Rose, Richard J. and Salem, Rany and Santa-Marina, Loreto and Saw, Seang-Mei and Schnurr, Theresia M. and Scott, James G. and Selzam, Saskia and Shepherd, John A. and Simpson, Angela and Skotte, Line and Sleiman, Patrick M. A. and Snieder, Harold and Sorensen, Thorkild I. A. and Standl, Marie and Steegers, Eric A. P. and Strachan, David P. and Straker, Leon and Strandberg, Timo and Taylor, Michelle and Teo, Yik-Ying and Thiering, Elisabeth and Torrent, Maties and Tyrrell, Jessica and Uitterlinden, Andre G. and van Beijsterveldt, Toos and van der Most, Peter J. and van Duijn, Cornelia M. and Viikari, Jorma and Vilor-Tejedor, Natalia and Vogelezang, Suzanne and Vonk, Judith M. and Vrijkotte, Tanja G. M. and Vuoksimaa, Eero and Wang, Carol A. and Watkins, William J. and Wichmann, H-Erich and Willemsen, Gonneke and Williams, Gail M. and Wilson, James F. and Wray, Naomi R. and Xu, Shujing and Xu, Cheng-Jian and Yaghootkar, Hanieh and Yi, Lu and Zafarmand, Mohammad Hadi and Zeggini, Eleftheria and Zemel, Babette S. and Hinney, Anke and Lakka, Timo A. and Whitehouse, Andrew J. O. and Sunyer, Jordi and Widen, Elisabeth E. and Feenstra, Bjarke and Sebert, Sylvain and Jacobsson, Bo and Njolstad, Pal R. and Stoltenberg, Camilla and Smith, George Davey and Lawlor, Debbie A. and Paternoster, Lavinia and Timpson, Nicholas J. and Ong, Ken K. and Bisgaard, Hans and Bonnelykke, Klaus and Jaddoe, Vincent W. V. and Tiemeier, Henning and Jarvelin, Marjo-Riitta and Evans, David M. and Perry, John R. B. and Grant, Struan F. A. and Boomsma, Dorret I. and Freathy, Rachel M. and McCarthy, Mark I. and Felix, Janine F.},
title = {The Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia},
series = {European journal of epidemiology},
volume = {34},
journal = {European journal of epidemiology},
number = {3},
publisher = {Springer},
address = {Dordrecht},
organization = {EArly Genetics Lifecourse EGG Consortium EGG Membership EAGLE Membership},
issn = {0393-2990},
doi = {10.1007/s10654-019-00502-9},
pages = {279 -- 300},
year = {2019},
abstract = {The impact of many unfavorable childhood traits or diseases, such as low birth weight and mental disorders, is not limited to childhood and adolescence, as they are also associated with poor outcomes in adulthood, such as cardiovascular disease. Insight into the genetic etiology of childhood and adolescent traits and disorders may therefore provide new perspectives, not only on how to improve wellbeing during childhood, but also how to prevent later adverse outcomes. To achieve the sample sizes required for genetic research, the Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia were established. The majority of the participating cohorts are longitudinal population-based samples, but other cohorts with data on early childhood phenotypes are also involved. Cohorts often have a broad focus and collect(ed) data on various somatic and psychiatric traits as well as environmental factors. Genetic variants have been successfully identified for multiple traits, for example, birth weight, atopic dermatitis, childhood BMI, allergic sensitization, and pubertal growth. Furthermore, the results have shown that genetic factors also partly underlie the association with adult traits. As sample sizes are still increasing, it is expected that future analyses will identify additional variants. This, in combination with the development of innovative statistical methods, will provide detailed insight on the mechanisms underlying the transition from childhood to adult disorders. Both consortia welcome new collaborations. Policies and contact details are available from the corresponding authors of this manuscript and/or the consortium websites.},
language = {en}
}
@article{YangZhuWolfetal.2018,
author = {Yang, Jie and Zhu, Xiaolei and Wolf, Thomas J. A. and Li, Zheng and Nunes, Jo{\~a}o Pedro Figueira and Coffee, Ryan and Cryan, James P. and G{\"u}hr, Markus and Hegazy, Kareem and Heinz, Tony F. and Jobe, Keith and Li, Renkai and Shen, Xiaozhe and Veccione, Theodore and Weathersby, Stephen and Wilkin, Kyle J. and Yoneda, Charles and Zheng, Qiang and Martinez, Todd J. and Centurion, Martin and Wang, Xijie},
title = {Imaging CF3I conical intersection and photodissociation dynamics with ultrafast electron diffraction},
series = {Science},
volume = {361},
journal = {Science},
number = {6397},
publisher = {American Assoc. for the Advancement of Science},
address = {Washington},
issn = {0036-8075},
doi = {10.1126/science.aat0049},
pages = {64 -- 67},
year = {2018},
abstract = {Conical intersections play a critical role in excited-state dynamics of polyatomic molecules because they govern the reaction pathways of many nonadiabatic processes. However, ultrafast probes have lacked sufficient spatial resolution to image wave-packet trajectories through these intersections directly. Here, we present the simultaneous experimental characterization of one-photon and two-photon excitation channels in isolated CF3I molecules using ultrafast gas-phase electron diffraction. In the two-photon channel, we have mapped out the real-space trajectories of a coherent nuclear wave packet, which bifurcates onto two potential energy surfaces when passing through a conical intersection. In the one-photon channel, we have resolved excitation of both the umbrella and the breathing vibrational modes in the CF3 fragment in multiple nuclear dimensions. These findings benchmark and validate ab initio nonadiabatic dynamics calculations.},
language = {en}
}
@article{HocherLuReichetzederetal.2022,
author = {Hocher, Berthold and Lu, Yong-Ping and Reichetzeder, Christoph and Zhang, Xiaoli and Tsuprykov, Oleg and Rahnenf{\"u}hrer, Jan and Xie, Li and Li, Jian and Hu, Liang and Kr{\"a}mer, Bernhard K. and Hasan, Ahmed A.},
title = {Paternal eNOS deficiency in mice affects glucose homeostasis and liver glycogen in male offspring without inheritance of eNOS deficiency itself},
series = {Diabetologia},
volume = {65},
journal = {Diabetologia},
number = {7},
publisher = {Springer},
address = {New York},
issn = {0012-186X},
doi = {10.1007/s00125-022-05700-x},
pages = {1222 -- 1236},
year = {2022},
abstract = {Aims/hypothesis It was shown that maternal endothelial nitric oxide synthase (eNOS) deficiency causes fatty liver disease and numerically lower fasting glucose in female wild-type offspring, suggesting that parental genetic variants may influence the offspring's phenotype via epigenetic modifications in the offspring despite the absence of a primary genetic defect. The aim of the current study was to analyse whether paternal eNOS deficiency may cause the same phenotype as seen with maternal eNOS deficiency. Methods Heterozygous (+/-) male eNOS (Nos3) knockout mice or wild-type male mice were bred with female wild-type mice. The phenotype of wild-type offspring of heterozygous male eNOS knockout mice was compared with offspring from wild-type parents. Results Global sperm DNA methylation decreased and sperm microRNA pattern altered substantially. Fasting glucose and liver glycogen storage were increased when analysing wild-type male and female offspring of +/- eNOS fathers. Wild-type male but not female offspring of +/- eNOS fathers had increased fasting insulin and increased insulin after glucose load. Analysing candidate genes for liver fat and carbohydrate metabolism revealed that the expression of genes encoding glucocorticoid receptor (Gr; also known as Nr3c1) and peroxisome proliferator-activated receptor gamma coactivator 1-alpha (Pgc1a; also known as Ppargc1a) was increased while DNA methylation of Gr exon 1A and Pgc1a promoter was decreased in the liver of male wild-type offspring of +/- eNOS fathers. The endocrine pancreas in wild-type offspring was not affected.
Conclusions/interpretation Our study suggests that paternal genetic defects such as eNOS deficiency may alter the epigenome of the sperm without transmission of the paternal genetic defect itself. In later life wild-type male offspring of +/- eNOS fathers developed increased fasting insulin and increased insulin after glucose load. These effects are associated with increased Gr and Pgc1a gene expression due to altered methylation of these genes.},
language = {en}
}
@article{ChanChaudharySahaetal.2021,
author = {Chan, Lili and Chaudhary, Kumardeep and Saha, Aparna and Chauhan, Kinsuk and Vaid, Akhil and Zhao, Shan and Paranjpe, Ishan and Somani, Sulaiman and Richter, Felix and Miotto, Riccardo and Lala, Anuradha and Kia, Arash and Timsina, Prem and Li, Li and Freeman, Robert and Chen, Rong and Narula, Jagat and Just, Allan C. and Horowitz, Carol and Fayad, Zahi and Cordon-Cardo, Carlos and Schadt, Eric and Levin, Matthew A. and Reich, David L. and Fuster, Valentin and Murphy, Barbara and He, John C. and Charney, Alexander W. and B{\"o}ttinger, Erwin and Glicksberg, Benjamin and Coca, Steven G. and Nadkarni, Girish N.},
title = {AKI in hospitalized patients with COVID-19},
series = {Journal of the American Society of Nephrology : JASN},
volume = {32},
journal = {Journal of the American Society of Nephrology : JASN},
number = {1},
publisher = {American Society of Nephrology},
address = {Washington},
organization = {Mt Sinai COVID Informatics Ct},
issn = {1046-6673},
doi = {10.1681/ASN.2020050615},
pages = {151 -- 160},
year = {2021},
abstract = {Background: Early reports indicate that AKI is common among patients with coronavirus disease 2019 (COVID-19) and associatedwith worse outcomes. However, AKI among hospitalized patients with COVID19 in the United States is not well described. Methods: This retrospective, observational study involved a review of data from electronic health records of patients aged >= 18 years with laboratory-confirmed COVID-19 admitted to the Mount Sinai Health System from February 27 to May 30, 2020. We describe the frequency of AKI and dialysis requirement, AKI recovery, and adjusted odds ratios (aORs) with mortality. Results: Of 3993 hospitalized patients with COVID-19, AKI occurred in 1835 (46\%) patients; 347 (19\%) of the patientswith AKI required dialysis. The proportionswith stages 1, 2, or 3 AKIwere 39\%, 19\%, and 42\%, respectively. A total of 976 (24\%) patients were admitted to intensive care, and 745 (76\%) experienced AKI. Of the 435 patients with AKI and urine studies, 84\% had proteinuria, 81\% had hematuria, and 60\% had leukocyturia. Independent predictors of severe AKI were CKD, men, and higher serum potassium at admission. In-hospital mortality was 50\% among patients with AKI versus 8\% among those without AKI (aOR, 9.2; 95\% confidence interval, 7.5 to 11.3). Of survivors with AKI who were discharged, 35\% had not recovered to baseline kidney function by the time of discharge. An additional 28 of 77 (36\%) patients who had not recovered kidney function at discharge did so on posthospital follow-up. Conclusions: AKI is common among patients hospitalized with COVID-19 and is associated with high mortality. Of all patients with AKI, only 30\% survived with recovery of kidney function by the time of discharge.},
language = {en}
}
@techreport{BrodeurMikolaCooketal.2024,
type = {Working Paper},
author = {Brodeur, Abel and Mikola, Derek and Cook, Nikolai and Brailey, Thomas and Briggs, Ryan and Gendre, Alexandra de and Dupraz, Yannick and Fiala, Lenka and Gabani, Jacopo and Gauriot, Romain and Haddad, Joanne and Lima, Goncalo and Ankel-Peters, J{\"o}rg and Dreber, Anna and Campbell, Douglas and Kattan, Lamis and Fages, Diego Marino and Mierisch, Fabian and Sun, Pu and Wright, Taylor and Connolly, Marie and Hoces de la Guardia, Fernando and Johannesson, Magnus and Miguel, Edward and Vilhuber, Lars and Abarca, Alejandro and Acharya, Mahesh and Adjisse, Sossou Simplice and Akhtar, Ahwaz and Lizardi, Eduardo Alberto Ramirez and Albrecht, Sabina and Andersen, Synve Nygaard and Andlib, Zubaria and Arrora, Falak and Ash, Thomas and Bacher, Etienne and Bachler, Sebastian and Bacon, F{\´e}lix and Bagues, Manuel and Balogh, Timea and Batmanov, Alisher and Barschkett, Mara and Basdil, B. Kaan and Dower, Jaromneda and Castek, Ondrej and Caviglia-Harris, Jill and Strand, Gabriella Chauca and Chen, Shi and Chzhen, Asya and Chung, Jong and Collins, Jason and Coppock, Alexander and Cordeau, Hugo and Couillard, Ben and Crechet, Jonathan and Crippa, Lorenzo and Cui, Jeanne and Czymara, Christian and Daarstad, Haley and Dao, Danh Chi and Dao, Dong and Schmandt, Marco David and Linde, Astrid de and Melo, Lucas De and Deer, Lachlan and Vera, Micole De and Dimitrova, Velichka and Dollbaum, Jan Fabian and Dollbaum, Jan Matti and Donnelly, Michael and Huynh, Luu Duc Toan and Dumbalska, Tsvetomira and Duncan, Jamie and Duong, Kiet Tuan and Duprey, Thibaut and Dworschak, Christoph and Ellingsrud, Sigmund and Elminejad, Ali and Eissa, Yasmine and Erhart, Andrea and Etingin-Frati, Giulian and Fatemi-Pour, Elaheh and Federice, Alexa and Feld, Jan and Fenig, Guidon and Firouzjaeiangalougah, Mojtaba and Fleisje, Erlend and Fortier-Chouinard, Alexandre and Engel, Julia Francesca and Fries, Tilman and Fortier, Reid and Fr{\´e}chet, Nadjim and Galipeau, Thomas and Gallegos, Sebasti{\´a}n and Gangji, Areez and Gao, Xiaoying and Garnache, Clo{\´e} and G{\´a}sp{\´a}r, Attila and Gavrilova, Evelina and Ghosh, Arijit and Gibney, Garreth and Gibson, Grant and Godager, Geir and Goff, Leonard and Gong, Da and Gonz{\´a}lez, Javier and Gretton, Jeremy and Griffa, Cristina and Grigoryeva, Idaliya and Grtting, Maja and Guntermann, Eric and Guo, Jiaqi and Gugushvili, Alexi and Habibnia, Hooman and H{\"a}ffner, Sonja and Hall, Jonathan D. and Hammar, Olle and Kordt, Amund Hanson and Hashimoto, Barry and Hartley, Jonathan S. and Hausladen, Carina I. and Havr{\´a}nek, Tom{\´a}š and Hazen, Jacob and He, Harry and Hepplewhite, Matthew and Herrera-Rodriguez, Mario and Heuer, Felix and Heyes, Anthony and Ho, Anson T. Y. and Holmes, Jonathan and Holzknecht, Armando and Hsu, Yu-Hsiang Dexter and Hu, Shiang-Hung and Huang, Yu-Shiuan and Huebener, Mathias and Huber, Christoph and Huynh, Kim P. and Irsova, Zuzana and Isler, Ozan and Jakobsson, Niklas and Frith, Michael James and Jananji, Rapha{\"e}l and Jayalath, Tharaka A. and Jetter, Michael and John, Jenny and Forshaw, Rachel Joy and Juan, Felipe and Kadriu, Valon and Karim, Sunny and Kelly, Edmund and Dang, Duy Khanh Hoang and Khushboo, Tazia and Kim, Jin and Kjellsson, Gustav and Kjelsrud, Anders and Kotsadam, Andreas and Korpershoek, Jori and Krashinsky, Lewis and Kundu, Suranjana and Kustov, Alexander and Lalayev, Nurlan and Langlois, Audr{\´e}e and Laufer, Jill and Lee-Whiting, Blake and Leibing, Andreas and Lenz, Gabriel and Levin, Joel and Li, Peng and Li, Tongzhe and Lin, Yuchen and Listo, Ariel and Liu, Dan and Lu, Xuewen and Lukmanova, Elvina and Luscombe, Alex and Lusher, Lester R. and Lyu, Ke and Ma, Hai and M{\"a}der, Nicolas and Makate, Clifton and Malmberg, Alice and Maitra, Adit and Mandas, Marco and Marcus, Jan and Margaryan, Shushanik and M{\´a}rk, Lili and Martignano, Andres and Marsh, Abigail and Masetto, Isabella and McCanny, Anthony and McManus, Emma and McWay, Ryan and Metson, Lennard and Kinge, Jonas Minet and Mishra, Sumit and Mohnen, Myra and M{\"o}ller, Jakob and Montambeault, Rosalie and Montpetit, S{\´e}bastien and Morin, Louis-Philippe and Morris, Todd and Moser, Scott and Motoki, Fabio and Muehlenbachs, Lucija and Musulan, Andreea and Musumeci, Marco and Nabin, Munirul and Nchare, Karim and Neubauer, Florian and Nguyen, Quan M. P. and Nguyen, Tuan and Nguyen-Tien, Viet and Niazi, Ali and Nikolaishvili, Giorgi and Nordstrom, Ardyn and N{\"u}, Patrick and Odermatt, Angela and Olson, Matt and ien, Henning and {\"O}lkers, Tim and Vert, Miquel Oliver i. and Oral, Emre and Oswald, Christian and Ousman, Ali and {\"O}zak, {\"O}mer and Pandey, Shubham and Pavlov, Alexandre and Pelli, Martino and Penheiro, Romeo and Park, RyuGyung and Martel, Eva P{\´e}rez and Petrovičov{\´a}, Tereza and Phan, Linh and Prettyman, Alexa and Proch{\´a}zka, Jakub and Putri, Aqila and Quandt, Julian and Qiu, Kangyu and Nguyen, Loan Quynh Thi and Rahman, Andaleeb and Rea, Carson H. and Reiremo, Adam and Ren{\´e}e, La{\"e}titia and Richardson, Joseph and Rivers, Nicholas and Rodrigues, Bruno and Roelofs, William and Roemer, Tobias and Rogeberg, Ole and Rose, Julian and Roskos-Ewoldsen, Andrew and Rosmer, Paul and Sabada, Barbara and Saberian, Soodeh and Salamanca, Nicolas and Sator, Georg and Sawyer, Antoine and Scates, Daniel and Schl{\"u}ter, Elmar and Sells, Cameron and Sen, Sharmi and Sethi, Ritika and Shcherbiak, Anna and Sogaolu, Moyosore and Soosalu, Matt and Srensen, Erik and Sovani, Manali and Spencer, Noah and Staubli, Stefan and Stans, Renske and Stewart, Anya and Stips, Felix and Stockley, Kieran and Strobel, Stephenson and Struby, Ethan and Tang, John and Tanrisever, Idil and Yang, Thomas Tao and Tastan, Ipek and Tatić, Dejan and Tatlow, Benjamin and Seuyong, F{\´e}raud Tchuisseu and Th{\´e}riault, R{\´e}mi and Thivierge, Vincent and Tian, Wenjie and Toma, Filip-Mihai and Totarelli, Maddalena and Tran, Van-Anh and Truong, Hung and Tsoy, Nikita and Tuzcuoglu, Kerem and Ubfal, Diego and Villalobos, Laura and Walterskirchen, Julian and Wang, Joseph Taoyi and Wattal, Vasudha and Webb, Matthew D. and Weber, Bryan and Weisser, Reinhard and Weng, Wei-Chien and Westheide, Christian and White, Kimberly and Winter, Jacob and Wochner, Timo and Woerman, Matt and Wong, Jared and Woodard, Ritchie and Wroński, Marcin and Yazbeck, Myra and Yang, Gustav Chung and Yap, Luther and Yassin, Kareman and Ye, Hao and Yoon, Jin Young and Yurris, Chris and Zahra, Tahreen and Zaneva, Mirela and Zayat, Aline and Zhang, Jonathan and Zhao, Ziwei and Yaolang, Zhong},
title = {Mass reproducibility and replicability},
series = {I4R discussion paper series},
journal = {I4R discussion paper series},
number = {107},
publisher = {Institute for Replication},
address = {Essen},
issn = {2752-1931},
pages = {250},
year = {2024},
abstract = {This study pushes our understanding of research reliability by reproducing and replicating claims from 110 papers in leading economic and political science journals. The analysis involves computational reproducibility checks and robustness assessments. It reveals several patterns. First, we uncover a high rate of fully computationally reproducible results (over 85\%). Second, excluding minor issues like missing packages or broken pathways, we uncover coding errors for about 25\% of studies, with some studies containing multiple errors. Third, we test the robustness of the results to 5,511 re-analyses. We find a robustness reproducibility of about 70\%. Robustness reproducibility rates are relatively higher for re-analyses that introduce new data and lower for re-analyses that change the sample or the definition of the dependent variable. Fourth, 52\% of re-analysis effect size estimates are smaller than the original published estimates and the average statistical significance of a re-analysis is 77\% of the original. Lastly, we rely on six teams of researchers working independently to answer eight additional research questions on the determinants of robustness reproducibility. Most teams find a negative relationship between replicators' experience and reproducibility, while finding no relationship between reproducibility and the provision of intermediate or even raw data combined with the necessary cleaning codes.},
language = {en}
}
@misc{ArnisonBibbBierbaumetal.2013,
author = {Arnison, Paul G. and Bibb, Mervyn J. and Bierbaum, Gabriele and Bowers, Albert A. and Bugni, Tim S. and Bulaj, Grzegorz and Camarero, Julio A. and Campopiano, Dominic J. and Challis, Gregory L. and Clardy, Jon and Cotter, Paul D. and Craik, David J. and Dawson, Michael and Dittmann-Th{\"u}nemann, Elke and Donadio, Stefano and Dorrestein, Pieter C. and Entian, Karl-Dieter and Fischbach, Michael A. and Garavelli, John S. and Goeransson, Ulf and Gruber, Christian W. and Haft, Daniel H. and Hemscheidt, Thomas K. and Hertweck, Christian and Hill, Colin and Horswill, Alexander R. and Jaspars, Marcel and Kelly, Wendy L. and Klinman, Judith P. and Kuipers, Oscar P. and Link, A. James and Liu, Wen and Marahiel, Mohamed A. and Mitchell, Douglas A. and Moll, Gert N. and Moore, Bradley S. and Mueller, Rolf and Nair, Satish K. and Nes, Ingolf F. and Norris, Gillian E. and Olivera, Baldomero M. and Onaka, Hiroyasu and Patchett, Mark L. and Piel, J{\"o}rn and Reaney, Martin J. T. and Rebuffat, Sylvie and Ross, R. Paul and Sahl, Hans-Georg and Schmidt, Eric W. and Selsted, Michael E. and Severinov, Konstantin and Shen, Ben and Sivonen, Kaarina and Smith, Leif and Stein, Torsten and Suessmuth, Roderich D. and Tagg, John R. and Tang, Gong-Li and Truman, Andrew W. and Vederas, John C. and Walsh, Christopher T. and Walton, Jonathan D. and Wenzel, Silke C. and Willey, Joanne M. and van der Donk, Wilfred A.},
title = {Ribosomally synthesized and post-translationally modified peptide natural products overview and recommendations for a universal nomenclature},
series = {Natural product reports : a journal of current developments in bio-organic chemistry},
volume = {30},
journal = {Natural product reports : a journal of current developments in bio-organic chemistry},
number = {1},
publisher = {Royal Society of Chemistry},
address = {Cambridge},
issn = {0265-0568},
doi = {10.1039/c2np20085f},
pages = {108 -- 160},
year = {2013},
abstract = {This review presents recommended nomenclature for the biosynthesis of ribosomally synthesized and post-translationally modified peptides (RiPPs), a rapidly growing class of natural products. The current knowledge regarding the biosynthesis of the >20 distinct compound classes is also reviewed, and commonalities are discussed.},
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{LevermannWinkelmannNowickietal.2014,
author = {Levermann, Anders and Winkelmann, Ricarda and Nowicki, S. and Fastook, J. L. and Frieler, Katja and Greve, R. and Hellmer, H. H. and Martin, M. A. and Meinshausen, Malte and Mengel, Matthias and Payne, A. J. and Pollard, D. and Sato, T. and Timmermann, R. and Wang, Wei Li and Bindschadler, Robert A.},
title = {Projecting antarctic ice discharge using response functions from SeaRISE ice-sheet models},
series = {Earth system dynamics},
volume = {5},
journal = {Earth system dynamics},
number = {2},
publisher = {Copernicus},
address = {G{\"o}ttingen},
issn = {2190-4979},
doi = {10.5194/esd-5-271-2014},
pages = {271 -- 293},
year = {2014},
abstract = {The largest uncertainty in projections of future sea-level change results from the potentially changing dynamical ice discharge from Antarctica. Basal ice-shelf melting induced by a warming ocean has been identified as a major cause for additional ice flow across the grounding line. Here we attempt to estimate the uncertainty range of future ice discharge from Antarctica by combining uncertainty in the climatic forcing, the oceanic response and the ice-sheet model response. The uncertainty in the global mean temperature increase is obtained from historically constrained emulations with the MAGICC-6.0 (Model for the Assessment of Greenhouse gas Induced Climate Change) model. The oceanic forcing is derived from scaling of the subsurface with the atmospheric warming from 19 comprehensive climate models of the Coupled Model Intercomparison Project (CMIP-5) and two ocean models from the EU-project Ice2Sea. The dynamic ice-sheet response is derived from linear response functions for basal ice-shelf melting for four different Antarctic drainage regions using experiments from the Sea-level Response to Ice Sheet Evolution (SeaRISE) intercomparison project with five different Antarctic ice-sheet models. The resulting uncertainty range for the historic Antarctic contribution to global sea-level rise from 1992 to 2011 agrees with the observed contribution for this period if we use the three ice-sheet models with an explicit representation of ice-shelf dynamics and account for the time-delayed warming of the oceanic subsurface compared to the surface air temperature. The median of the additional ice loss for the 21st century is computed to 0.07 m (66\% range: 0.02-0.14 m; 90\% range: 0.0-0.23 m) of global sea-level equivalent for the low-emission RCP-2.6 (Representative Concentration Pathway) scenario and 0.09 m (66\% range: 0.04-0.21 m; 90\% range: 0.01-0.37 m) for the strongest RCP-8.5. Assuming no time delay between the atmospheric warming and the oceanic subsurface, these values increase to 0.09 m (66\% range: 0.04-0.17 m; 90\% range: 0.02-0.25 m) for RCP-2.6 and 0.15 m (66\% range: 0.07-0.28 m; 90\% range: 0.04-0.43 m) for RCP-8.5. All probability distributions are highly skewed towards high values. The applied ice-sheet models are coarse resolution with limitations in the representation of grounding-line motion. Within the constraints of the applied methods, the uncertainty induced from different ice-sheet models is smaller than that induced by the external forcing to the ice sheets.},
language = {en}
}
@article{WolbernJacobBlakeetal.2006,
author = {Wolbern, I and Jacob, A. W. B. and Blake, T. A. and Kind, Rainer and Li, X and Yuan, X. H and Duennebier, F and Weber, Michael H.},
title = {Deep origin of the Hawaiian tilted plume conduit derived from receiver functions},
doi = {10.1111/j.1365-246X.2006.03036.x},
year = {2006},
abstract = {We employ P to S converted waveforms to investigate effects of the hot mantle plume on seismic discontinuities of the crust and upper mantle. We observe the Moho at depths between 13 and 17 km, regionally covered by a strong shallow intracrustal converted phase. Coherent phases on the transverse component indicate either dipping interfaces, 3- D heterogeneities or lower crustal anisotropy. We find anomalies related to discontinuities in the upper mantle down to the transition zone evidently related to the hot mantle plume. Lithospheric thinning is confirmed in greater detail than previously reported by Li et al., and we determine the dimensions of the low-velocity zone within the asthenosphere with greater accuracy. Our study mainly focuses on the temperature-pressure dependent discontinuities of the upper mantle transition zone. Effects of the hot diapir on the depths of mineral phase transitions are verified at both major interfaces at 410 and 660 km. We determine a plume radius of about 200 km at the 660 km discontinuity with a core zone of about 120 km radius. The plume conduit is located southwest of Big Island. A conduit tilted in the northeast direction is required in the upper mantle to explain the observations. The determined positions of deflections of the discontinuities support the hypothesis of decoupled upper and lower mantle convection},
language = {en}
}
@article{PattersonHeFolzetal.2020,
author = {Patterson, Jenelle A. and He, Hai and Folz, Jacob S. and Li, Qiang and Wilson, Mark A. and Fiehn, Oliver and Bruner, Steven D. and Bar-Even, Arren and Hanson, Andrew D.},
title = {Thioproline formation as a driver of formaldehyde toxicity in Escherichia coli},
series = {Biochemical Journal},
volume = {477},
journal = {Biochemical Journal},
number = {9},
publisher = {Portland Press},
address = {London},
issn = {1470-8728},
doi = {10.1042/BCJ20200198},
pages = {1745 -- 1757},
year = {2020},
abstract = {Formaldehyde (HCHO) is a reactive carbonyl compound that formylates and cross-links proteins, DNA, and small molecules. It is of specific concern as a toxic intermediate in the design of engineered pathways involving methanol oxidation or formate reduction. The interest in engineering these pathways is not, however, matched by engineering-relevant information on precisely why HCHO is toxic or on what damage-control mechanisms cells deploy to manage HCHO toxicity. The only well-defined mechanism for managing HCHO toxicity is formaldehyde dehydrogenase-mediated oxidation to formate, which is counterproductive if HCHO is a desired pathway intermediate. We therefore sought alternative HCHO damage-control mechanisms via comparative genomic analysis. This analysis associated homologs of the Escherichia coli pepP gene with HCHO-related one-carbon metabolism. Furthermore, deleting pepP increased the sensitivity of E. coli to supplied HCHO but not other carbonyl compounds. PepP is a proline aminopeptidase that cleaves peptides of the general formula X-Pro-Y, yielding X + Pro-Y. HCHO is known to react spontaneously with cysteine to form the close proline analog thioproline (thiazolidine-4-carboxylate), which is incorporated into proteins and hence into proteolytic peptides. We therefore hypothesized that certain thioproline-containing peptides are toxic and that PepP cleaves these aberrant peptides. Supporting this hypothesis, PepP cleaved the model peptide Ala-thioproline-Ala as efficiently as Ala-Pro-Ala in vitro and in vivo, and deleting pepP increased sensitivity to supplied thioproline. Our data thus (i) provide biochemical genetic evidence that thioproline formation contributes substantially to HCHO toxicity and (ii) make PepP a candidate damage-control enzyme for engineered pathways having HCHO as an intermediate.},
language = {en}
}
@article{LorenzMillerHochheimeretal.1995,
author = {Lorenz, Bernd and Miller, A. J. and Hochheimer, H. D. and H{\"o}nle, W. and Li, T. and Ruoff, A. L.},
title = {High pressure phase transition in tetramethylammonium tetra bromocuprate},
year = {1995},
language = {en}
}
@article{XiaCaoDaietal.2012,
author = {Xia, Haiyan and Cao, Yun and Dai, Xiaoman and Marelja, Zvonimir and Zhou, Di and Mo, Ran and Al-Mahdawi, Sahar and Pook, Mark A. and Leimk{\"u}hler, Silke and Rouault, Tracey A. and Li, Kuanyu},
title = {Novel Frataxin Isoforms May Contribute to the Pathological Mechanism of Friedreich Ataxia},
series = {PLOS ONE},
volume = {7},
journal = {PLOS ONE},
number = {10},
publisher = {PUBLIC LIBRARY SCIENCE},
address = {SAN FRANCISCO},
issn = {1932-6203},
doi = {10.1371/journal.pone.0047847},
pages = {11},
year = {2012},
abstract = {Friedreich ataxia (FRDA) is an inherited neurodegenerative disease caused by frataxin (FXN) deficiency. The nervous system and heart are the most severely affected tissues. However, highly mitochondria-dependent tissues, such as kidney and liver, are not obviously affected, although the abundance of FXN is normally high in these tissues. In this study we have revealed two novel FXN isoforms (II and III), which are specifically expressed in affected cerebellum and heart tissues, respectively, and are functional in vitro and in vivo. Increasing the abundance of the heart-specific isoform III significantly increased the mitochondrial aconitase activity, while over-expression of the cerebellum-specific isoform II protected against oxidative damage of Fe-S cluster-containing aconitase. Further, we observed that the protein level of isoform III decreased in FRDA patient heart, while the mRNA level of isoform II decreased more in FRDA patient cerebellum compared to total FXN mRNA. Our novel findings are highly relevant to understanding the mechanism of tissue-specific pathology in FRDA.},
language = {en}
}