TY - JOUR A1 - Taal, H. Rob A1 - St Pourcain, Beate A1 - Thiering, Elisabeth A1 - Das, Shikta A1 - Mook-Kanamori, Dennis O. A1 - Warrington, Nicole M. A1 - Kaakinen, Marika A1 - Kreiner-Moller, Eskil A1 - Bradfield, Jonathan P. A1 - Freathy, Rachel M. A1 - Geller, Frank A1 - Guxens, Monica A1 - Cousminer, Diana L. A1 - Kerkhof, Marjan A1 - Timpson, Nicholas J. A1 - Ikram, M. Arfan A1 - Beilin, Lawrence J. A1 - Bonnelykke, Klaus A1 - Buxton, Jessica L. A1 - Charoen, Pimphen A1 - Chawes, Bo Lund Krogsgaard A1 - Eriksson, Johan A1 - Evans, David M. A1 - Hofman, Albert A1 - Kemp, John P. A1 - Kim, Cecilia E. A1 - Klopp, Norman A1 - Lahti, Jari A1 - Lye, Stephen J. A1 - McMahon, George A1 - Mentch, Frank D. A1 - Mueller-Nurasyid, Martina A1 - O'Reilly, Paul F. A1 - Prokopenko, Inga A1 - Rivadeneira, Fernando A1 - Steegers, Eric A. P. A1 - Sunyer, Jordi A1 - Tiesler, Carla A1 - Yaghootkar, Hanieh A1 - Breteler, Monique M. B. A1 - Debette, Stephanie A1 - Fornage, Myriam A1 - Gudnason, Vilmundur A1 - Launer, Lenore J. A1 - van der Lugt, Aad A1 - Mosley, Thomas H. A1 - Seshadri, Sudha A1 - Smith, Albert V. A1 - Vernooij, Meike W. A1 - Blakemore, Alexandra I. F. A1 - Chiavacci, Rosetta M. A1 - Feenstra, Bjarke A1 - Fernandez-Banet, Julio A1 - Grant, Struan F. A. A1 - Hartikainen, Anna-Liisa A1 - van der Heijden, Albert J. A1 - Iniguez, Carmen A1 - Lathrop, Mark A1 - McArdle, Wendy L. A1 - Molgaard, Anne A1 - Newnham, John P. A1 - Palmer, Lyle J. A1 - Palotie, Aarno A1 - Pouta, Annneli A1 - Ring, Susan M. A1 - Sovio, Ulla A1 - Standl, Marie A1 - Uitterlinden, Andre G. A1 - Wichmann, H-Erich A1 - Vissing, Nadja Hawwa A1 - DeCarli, Charles A1 - van Duijn, Cornelia M. A1 - McCarthy, Mark I. A1 - Koppelman, Gerard H. A1 - Estivill, Xavier A1 - Hattersley, Andrew T. A1 - Melbye, Mads A1 - Bisgaard, Hans A1 - Pennell, Craig E. A1 - Widen, Elisabeth A1 - Hakonarson, Hakon A1 - Smith, George Davey A1 - Heinrich, Joachim A1 - Jarvelin, Marjo-Riitta A1 - Jaddoe, Vincent W. V. A1 - Adair, Linda S. A1 - Ang, Wei A1 - Atalay, Mustafa A1 - van Beijsterveldt, Toos A1 - Bergen, Nienke A1 - Benke, Kelly A1 - Berry, Diane J. A1 - Bradfield, Jonathan P. A1 - Charoen, Pimphen A1 - Coin, Lachlan A1 - Cousminer, Diana L. A1 - Das, Shikta A1 - Davis, Oliver S. P. A1 - Elliott, Paul A1 - Evans, David M. A1 - Feenstra, Bjarke A1 - Flexeder, Claudia A1 - Frayling, Tim A1 - Freathy, Rachel M. A1 - Gaillard, Romy A1 - Geller, Frank A1 - Groen-Blokhuis, Maria A1 - Goh, Liang-Kee A1 - Guxens, Monica A1 - Haworth, Claire M. A. A1 - Hadley, Dexter A1 - Hebebrand, Johannes A1 - Hinney, Anke A1 - Hirschhorn, Joel N. A1 - Holloway, John W. A1 - Holst, Claus A1 - Hottenga, Jouke Jan A1 - Horikoshi, Momoko A1 - Huikari, Ville A1 - Hypponen, Elina A1 - Iniguez, Carmen A1 - Kaakinen, Marika A1 - Kilpelainen, Tuomas O. A1 - Kirin, Mirna A1 - Kowgier, Matthew A1 - Lakka, Hanna-Maaria A1 - Lange, Leslie A. A1 - Lawlor, Debbie A. A1 - Lehtimaki, Terho A1 - Lewin, Alex A1 - Lindgren, Cecilia A1 - Lindi, Virpi A1 - Maggi, Reedik A1 - Marsh, Julie A1 - Middeldorp, Christel A1 - Millwood, Iona A1 - Mook-Kanamori, Dennis O. A1 - Murray, Jeffrey C. A1 - Nivard, Michel A1 - Nohr, Ellen Aagaard A1 - Ntalla, Ioanna A1 - Oken, Emily A1 - O'Reilly, Paul F. A1 - Palmer, Lyle J. A1 - Panoutsopoulou, Kalliope A1 - Pararajasingham, Jennifer A1 - Prokopenko, Inga A1 - Rodriguez, Alina A1 - Salem, Rany M. A1 - Sebert, Sylvain A1 - Siitonen, Niina A1 - Sovio, Ulla A1 - St Pourcain, Beate A1 - Strachan, David P. A1 - Sunyer, Jordi A1 - Taal, H. Rob A1 - Teo, Yik-Ying A1 - Thiering, Elisabeth A1 - Tiesler, Carla A1 - Uitterlinden, Andre G. A1 - Valcarcel, Beatriz A1 - Warrington, Nicole M. A1 - White, Scott A1 - Willemsen, Gonneke A1 - Yaghootkar, Hanieh A1 - Zeggini, Eleftheria A1 - Boomsma, Dorret I. A1 - Cooper, Cyrus A1 - Estivill, Xavier A1 - Gillman, Matthew A1 - Grant, Struan F. A. A1 - Hakonarson, Hakon A1 - Hattersley, Andrew T. A1 - Heinrich, Joachim A1 - Hocher, Berthold A1 - Jaddoe, Vincent W. V. A1 - Jarvelin, Marjo-Riitta A1 - Lakka, Timo A. A1 - McCarthy, Mark I. A1 - Melbye, Mads A1 - Mohlke, Karen L. A1 - Dedoussis, George V. A1 - Ong, Ken K. A1 - Pearson, Ewan R. A1 - Pennell, Craig E. A1 - Price, Thomas S. A1 - Power, Chris A1 - Raitakari, Olli T. A1 - Saw, Seang-Mei A1 - Scherag, Andre A1 - Simell, Olli A1 - Sorensen, Thorkild I. A. A1 - Timpson, Nicholas J. A1 - Widen, Elisabeth A1 - Wilson, James F. A1 - Ang, Wei A1 - van Beijsterveldt, Toos A1 - Bergen, Nienke A1 - Benke, Kelly A1 - Berry, Diane J. A1 - Bradfield, Jonathan P. A1 - Charoen, Pimphen A1 - Coin, Lachlan A1 - Cousminer, Diana L. A1 - Das, Shikta A1 - Elliott, Paul A1 - Evans, David M. A1 - Frayling, Tim A1 - Freathy, Rachel M. A1 - Gaillard, Romy A1 - Groen-Blokhuis, Maria A1 - Guxens, Monica A1 - Hadley, Dexter A1 - Hottenga, Jouke Jan A1 - Huikari, Ville A1 - Hypponen, Elina A1 - Kaakinen, Marika A1 - Kowgier, Matthew A1 - Lawlor, Debbie A. A1 - Lewin, Alex A1 - Lindgren, Cecilia A1 - Marsh, Julie A1 - Middeldorp, Christel A1 - Millwood, Iona A1 - Mook-Kanamori, Dennis O. A1 - Nivard, Michel A1 - O'Reilly, Paul F. A1 - Palmer, Lyle J. A1 - Prokopenko, Inga A1 - Rodriguez, Alina A1 - Sebert, Sylvain A1 - Sovio, Ulla A1 - St Pourcain, Beate A1 - Standl, Marie A1 - Strachan, David P. A1 - Sunyer, Jordi A1 - Taal, H. Rob A1 - Thiering, Elisabeth A1 - Tiesler, Carla A1 - Uitterlinden, Andre G. A1 - Valcarcel, Beatriz A1 - Warrington, Nicole M. A1 - White, Scott A1 - Willemsen, Gonneke A1 - Yaghootkar, Hanieh A1 - Boomsma, Dorret I. A1 - Estivill, Xavier A1 - Grant, Struan F. A. A1 - Hakonarson, Hakon A1 - Hattersley, Andrew T. A1 - Heinrich, Joachim A1 - Jaddoe, Vincent W. V. A1 - Jarvelin, Marjo-Riitta A1 - McCarthy, Mark I. A1 - Pennell, Craig E. A1 - Power, Chris A1 - Timpson, Nicholas J. A1 - Widen, Elisabeth A1 - Ikram, M. Arfan A1 - Fornage, Myriam A1 - Smith, Albert V. A1 - Seshadri, Sudha A1 - Schmidt, Reinhold A1 - Debette, Stephanie A1 - Vrooman, Henri A. A1 - Sigurdsson, Sigurdur A1 - Ropele, Stefan A1 - Coker, Laura H. A1 - Longstreth, W. T. A1 - Niessen, Wiro J. A1 - DeStefano, Anita L. A1 - Beiser, Alexa A1 - Zijdenbos, Alex P. A1 - Struchalin, Maksim A1 - Jack, Clifford R. A1 - Nalls, Mike A. A1 - Au, Rhoda A1 - Hofman, Albert A1 - Gudnason, Haukur A1 - van der Lugt, Aad A1 - Harris, Tamara B. A1 - Meeks, William M. A1 - Vernooij, Meike W. A1 - van Buchem, Mark A. A1 - Catellier, Diane A1 - Gudnason, Vilmundur A1 - Windham, B. Gwen A1 - Wolf, Philip A. A1 - van Duijn, Cornelia M. A1 - Mosley, Thomas H. A1 - Schmidt, Helena A1 - Launer, Lenore J. A1 - Breteler, Monique M. B. A1 - DeCarli, Charles T1 - Common variants at 12q15 and 12q24 are associated with infant head circumference JF - Nature genetics N2 - To identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies (GWAS) (N = 10,768 individuals of European ancestry enrolled in pregnancy and/or birth cohorts) and followed up three lead signals in six replication studies (combined N = 19,089). rs7980687 on chromosome 12q24 (P = 8.1 x 10(-9)) and rs1042725 on chromosome 12q15 (P = 2.8 x 10(-10)) were robustly associated with head circumference in infancy. Although these loci have previously been associated with adult height(1), their effects on infant head circumference were largely independent of height (P = 3.8 x 10(-7) for rs7980687 and P = 1.3 x 10(-7) for rs1042725 after adjustment for infant height). A third signal, rs11655470 on chromosome 17q21, showed suggestive evidence of association with head circumference (P = 3.9 x 10(-6)). SNPs correlated to the 17q21 signal have shown genome-wide association with adult intracranial volume(2), Parkinson's disease and other neurodegenerative diseases(3-5), indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life. Y1 - 2012 U6 - https://doi.org/10.1038/ng.2238 SN - 1061-4036 VL - 44 IS - 5 SP - 532 EP - + PB - Nature Publ. Group CY - New York ER - TY - JOUR A1 - Cohen, Andrew A1 - Campisano, C. A1 - Arrowsmith, J. Ramón A1 - Asrat, Asfawossen A1 - Behrensmeyer, A. K. A1 - Deino, A. A1 - Feibel, C. A1 - Hill, A. A1 - Johnson, R. A1 - Kingston, J. A1 - Lamb, Henry F. A1 - Lowenstein, T. A1 - Noren, A. A1 - Olago, D. A1 - Owen, R. B. A1 - Potts, R. A1 - Reed, Kate A1 - Renaut, R. A1 - Schäbitz, Frank A1 - Tiercelin, J. -J. A1 - Trauth, Martin H. A1 - Wynn, J. A1 - Ivory, S. A1 - Brady, K. A1 - Rodysill, J. A1 - Githiri, J. A1 - Russell, J. A1 - Förster, Verena A1 - Dommain, René A1 - Rucina, S. A1 - Deocampo, D. A1 - Russell, J. A1 - Billingsley, A. A1 - Beck, C. A1 - Dorenbeck, G. A1 - Dullo, L. A1 - Feary, D. A1 - Garello, D. A1 - Gromig, R. A1 - Johnson, T. A1 - Junginger, A. A1 - Karanja, M. A1 - Kimburi, E. A1 - Mbuthia, A. A1 - McCartney, T. A1 - McNulty, E. A1 - Muiruri, V. A1 - Nambiro, E. A1 - Negash, E. W. A1 - Njagi, D. A1 - Wilson, J. N. A1 - Rabideaux, N. A1 - Raub, T. A1 - Sier, M. J. A1 - Smith, P. A1 - Urban, J. A1 - Warren, M. A1 - Yadeta, M. A1 - Yost, C. A1 - Zinaye, B. T1 - The Hominin Sites and Paleolakes Drilling Project: inferring the environmental context of human evolution from eastern African rift lake deposits JF - Scientific Drilling N2 - The role that climate and environmental history may have played in influencing human evolution has been the focus of considerable interest and controversy among paleoanthropologists for decades. Prior attempts to understand the environmental history side of this equation have centered around the study of outcrop sediments and fossils adjacent to where fossil hominins (ancestors or close relatives of modern humans) are found, or from the study of deep sea drill cores. However, outcrop sediments are often highly weathered and thus are unsuitable for some types of paleoclimatic records, and deep sea core records come from long distances away from the actual fossil and stone tool remains. The Hominin Sites and Paleolakes Drilling Project (HSPDP) was developed to address these issues. The project has focused its efforts on the eastern African Rift Valley, where much of the evidence for early hominins has been recovered. We have collected about 2 km of sediment drill core from six basins in Kenya and Ethiopia, in lake deposits immediately adjacent to important fossil hominin and archaeological sites. Collectively these cores cover in time many of the key transitions and critical intervals in human evolutionary history over the last 4 Ma, such as the earliest stone tools, the origin of our own genus Homo, and the earliest anatomically modern Homo sapiens. Here we document the initial field, physical property, and core description results of the 2012-2014 HSPDP coring campaign. Y1 - 2016 U6 - https://doi.org/10.5194/sd-21-1-2016 SN - 1816-8957 SN - 1816-3459 VL - 21 SP - 1 EP - 16 PB - Copernicus CY - Göttingen ER - TY - JOUR A1 - Chipman, Ariel D. A1 - Ferrier, David E. K. A1 - Brena, Carlo A1 - Qu, Jiaxin A1 - Hughes, Daniel S. T. A1 - Schroeder, Reinhard A1 - Torres-Oliva, Montserrat A1 - Znassi, Nadia A1 - Jiang, Huaiyang A1 - Almeida, Francisca C. A1 - Alonso, Claudio R. A1 - Apostolou, Zivkos A1 - Aqrawi, Peshtewani A1 - Arthur, Wallace A1 - Barna, Jennifer C. J. A1 - Blankenburg, Kerstin P. A1 - Brites, Daniela A1 - Capella-Gutierrez, Salvador A1 - Coyle, Marcus A1 - Dearden, Peter K. A1 - Du Pasquier, Louis A1 - Duncan, Elizabeth J. A1 - Ebert, Dieter A1 - Eibner, Cornelius A1 - Erikson, Galina A1 - Evans, Peter D. A1 - Extavour, Cassandra G. A1 - Francisco, Liezl A1 - Gabaldon, Toni A1 - Gillis, William J. A1 - Goodwin-Horn, Elizabeth A. A1 - Green, Jack E. A1 - Griffiths-Jones, Sam A1 - Grimmelikhuijzen, Cornelis J. P. A1 - Gubbala, Sai A1 - Guigo, Roderic A1 - Han, Yi A1 - Hauser, Frank A1 - Havlak, Paul A1 - Hayden, Luke A1 - Helbing, Sophie A1 - Holder, Michael A1 - Hui, Jerome H. L. A1 - Hunn, Julia P. A1 - Hunnekuhl, Vera S. A1 - Jackson, LaRonda A1 - Javaid, Mehwish A1 - Jhangiani, Shalini N. A1 - Jiggins, Francis M. A1 - Jones, Tamsin E. A1 - Kaiser, Tobias S. A1 - Kalra, Divya A1 - Kenny, Nathan J. A1 - Korchina, Viktoriya A1 - Kovar, Christie L. A1 - Kraus, F. Bernhard A1 - Lapraz, Francois A1 - Lee, Sandra L. A1 - Lv, Jie A1 - Mandapat, Christigale A1 - Manning, Gerard A1 - Mariotti, Marco A1 - Mata, Robert A1 - Mathew, Tittu A1 - Neumann, Tobias A1 - Newsham, Irene A1 - Ngo, Dinh N. A1 - Ninova, Maria A1 - Okwuonu, Geoffrey A1 - Ongeri, Fiona A1 - Palmer, William J. A1 - Patil, Shobha A1 - Patraquim, Pedro A1 - Pham, Christopher A1 - Pu, Ling-Ling A1 - Putman, Nicholas H. A1 - Rabouille, Catherine A1 - Ramos, Olivia Mendivil A1 - Rhodes, Adelaide C. A1 - Robertson, Helen E. A1 - Robertson, Hugh M. A1 - Ronshaugen, Matthew A1 - Rozas, Julio A1 - Saada, Nehad A1 - Sanchez-Gracia, Alejandro A1 - Scherer, Steven E. A1 - Schurko, Andrew M. A1 - Siggens, Kenneth W. A1 - Simmons, DeNard A1 - Stief, Anna A1 - Stolle, Eckart A1 - Telford, Maximilian J. A1 - Tessmar-Raible, Kristin A1 - Thornton, Rebecca A1 - van der Zee, Maurijn A1 - von Haeseler, Arndt A1 - Williams, James M. A1 - Willis, Judith H. A1 - Wu, Yuanqing A1 - Zou, Xiaoyan A1 - Lawson, Daniel A1 - Muzny, Donna M. A1 - Worley, Kim C. A1 - Gibbs, Richard A. A1 - Akam, Michael A1 - Richards, Stephen T1 - The first myriapod genome sequence reveals conservative arthropod gene content and genome organisation in the centipede Strigamia maritima JF - PLoS biology N2 - Myriapods (e. g., centipedes and millipedes) display a simple homonomous body plan relative to other arthropods. All members of the class are terrestrial, but they attained terrestriality independently of insects. Myriapoda is the only arthropod class not represented by a sequenced genome. We present an analysis of the genome of the centipede Strigamia maritima. It retains a compact genome that has undergone less gene loss and shuffling than previously sequenced arthropods, and many orthologues of genes conserved from the bilaterian ancestor that have been lost in insects. Our analysis locates many genes in conserved macro-synteny contexts, and many small-scale examples of gene clustering. We describe several examples where S. maritima shows different solutions from insects to similar problems. The insect olfactory receptor gene family is absent from S. maritima, and olfaction in air is likely effected by expansion of other receptor gene families. For some genes S. maritima has evolved paralogues to generate coding sequence diversity, where insects use alternate splicing. This is most striking for the Dscam gene, which in Drosophila generates more than 100,000 alternate splice forms, but in S. maritima is encoded by over 100 paralogues. We see an intriguing linkage between the absence of any known photosensory proteins in a blind organism and the additional absence of canonical circadian clock genes. The phylogenetic position of myriapods allows us to identify where in arthropod phylogeny several particular molecular mechanisms and traits emerged. For example, we conclude that juvenile hormone signalling evolved with the emergence of the exoskeleton in the arthropods and that RR-1 containing cuticle proteins evolved in the lineage leading to Mandibulata. We also identify when various gene expansions and losses occurred. The genome of S. maritima offers us a unique glimpse into the ancestral arthropod genome, while also displaying many adaptations to its specific life history. Y1 - 2014 U6 - https://doi.org/10.1371/journal.pbio.1002005 SN - 1545-7885 VL - 12 IS - 11 PB - PLoS CY - San Fransisco ER - TY - JOUR A1 - Almeida, Leonardo A. A1 - Sana, H. A1 - Taylor, W. A1 - Barbá, Rodolfo A1 - Bonanos, Alceste Z. A1 - Crowther, Paul A1 - Damineli, Augusto A1 - de Koter, A. A1 - de Mink, Selma E. A1 - Evans, C. J. A1 - Gieles, Mark A1 - Grin, Nathan J. A1 - Hénault-Brunet, V. A1 - Langer, Norbert A1 - Lennon, D. A1 - Lockwood, Sean A1 - Maíz Apellániz, Jesús A1 - Moffat, A. F. J. A1 - Neijssel, C. A1 - Norman, C. A1 - Ramírez-Agudelo, O. H. A1 - Richardson, N. D. A1 - Schootemeijer, Abel A1 - Shenar, Tomer A1 - Soszyński, Igor A1 - Tramper, Frank A1 - Vink, J. S. T1 - The tarantula massive binary monitoring BT - I. Observational campaign and OB-type spectroscopic binaries JF - Astronomy and astrophysics : an international weekly journal N2 - Context: Massive binaries play a crucial role in the Universe. Knowing the distributions of their orbital parameters is important for a wide range of topics from stellar feedback to binary evolution channels and from the distribution of supernova types to gravitational wave progenitors, yet no direct measurements exist outside the Milky Way. Aims: The Tarantula Massive Binary Monitoring project was designed to help fill this gap by obtaining multi-epoch radial velocity (RV) monitoring of 102 massive binaries in the 30 Doradus region. Methods: In this paper we analyze 32 FLAMES/GIRAFFE observations of 93 O- and 7 B-type binaries. We performed a Fourier analysis and obtained orbital solutions for 82 systems: 51 single-lined (SB1) and 31 double-lined (SB2) spectroscopic binaries. Results: Overall, the binary fraction and orbital properties across the 30 Doradus region are found to be similar to existing Galactic samples. This indicates that within these domains environmental effects are of second order in shaping the properties of massive binary systems. A small difference is found in the distribution of orbital periods, which is slightly flatter (in log space) in 30 Doradus than in the Galaxy, although this may be compatible within error estimates and differences in the fitting methodology. Also, orbital periods in 30 Doradus can be as short as 1.1 d, somewhat shorter than seen in Galactic samples. Equal mass binaries (q> 0.95) in 30 Doradus are all found outside NGC 2070, the central association that surrounds R136a, the very young and massive cluster at 30 Doradus’s core. Most of the differences, albeit small, are compatible with expectations from binary evolution. One outstanding exception, however, is the fact that earlier spectral types (O2–O7) tend to have shorter orbital periods than later spectral types (O9.2–O9.7). Conclusions: Our results point to a relative universality of the incidence rate of massive binaries and their orbital properties in the metallicity range from solar (Z⊙) to about half solar. This provides the first direct constraints on massive binary properties in massive star-forming galaxies at the Universe’s peak of star formation at redshifts z ~ 1 to 2 which are estimated to have Z ~ 0.5 Z⊙. KW - stars: early-type KW - stars: massive KW - binaries: spectroscopic KW - binaries: close Y1 - 2017 U6 - https://doi.org/10.1051/0004-6361/201629844 SN - 1432-0746 VL - 598 PB - EDP Sciences CY - Les Ulis ER - TY - JOUR A1 - Reichstein, Markus A1 - Bahn, Michael A1 - Ciais, Philippe A1 - Frank, Dorothea A1 - Mahecha, Miguel D. A1 - Seneviratne, Sonia I. A1 - Zscheischler, Jakob A1 - Beer, Christian A1 - Buchmann, Nina A1 - Frank, David C. A1 - Papale, Dario A1 - Rammig, Anja A1 - Smith, Pete A1 - Thonicke, Kirsten A1 - van der Velde, Marijn A1 - Vicca, Sara A1 - Walz, Ariane A1 - Wattenbach, Martin T1 - Climate extremes and the carbon cycle JF - Nature : the international weekly journal of science N2 - The terrestrial biosphere is a key component of the global carbon cycle and its carbon balance is strongly influenced by climate. Continuing environmental changes are thought to increase global terrestrial carbon uptake. But evidence is mounting that climate extremes such as droughts or storms can lead to a decrease in regional ecosystem carbon stocks and therefore have the potential to negate an expected increase in terrestrial carbon uptake. Here we explore the mechanisms and impacts of climate extremes on the terrestrial carbon cycle, and propose a pathway to improve our understanding of present and future impacts of climate extremes on the terrestrial carbon budget. Y1 - 2013 U6 - https://doi.org/10.1038/nature12350 SN - 0028-0836 VL - 500 IS - 7462 SP - 287 EP - 295 PB - Nature Publ. Group CY - London ER - TY - JOUR A1 - Danquah, Ina A1 - Dobrucky, C. Lydia A1 - Frank, Laura K. A1 - Henze, Andrea A1 - Amoako, Yaw A. A1 - Bedu-Addo, George A1 - Raila, Jens A1 - Schulze, Matthias Bernd A1 - Mockenhaupt, Frank P. A1 - Schweigert, Florian J. T1 - Vitamin A: potential misclassification of vitamin A status among patients with type 2 diabetes and hypertension in urban Ghana JF - The American journal of clinical nutrition : a publication of the American Society for Nutrition, Inc. N2 - Background: Sub-Saharan Africa is facing a double burden of malnutrition: vitamin A deficiency (VAD) prevails, whereas the nutrition-related chronic conditions type 2 diabetes (T2D) and hypertension are emerging. Serum retinol a VAD marker increases in kidney disease and decreases in inflammation, which can partly be attributed to alterations in the vitamin A transport proteins retinol-binding protein 4 (RBP4) and prealbumin. Kidney dysfunction and inflammation commonly accompany T2D and hypertension. Objective: Among urban Ghanaians, we investigated the associations of T2D and hypertension with serum retinol as well as the importance of kidney function and inflammation in this regard. Design: A hospital-based, case-control study in individuals for risk factors of T2D, hypertension, or both was conducted in Kumasi, Ghana (328 controls, 197 with T2D, 354 with hypertension, and 340 with T2D plus hypertension). In 1219 blood samples, serum retinol, RBP4, and prealbumin were measured. Urinary albumin and estimated glomerular filtration rate (eGFR) defined kidney function. C-reactive protein (CRP) >5 mg/L indicated inflammation. We identified associations of T2D and hypertension with retinol by linear regression and calculated the contribution of RBP4, prealbumin, urinary albumin, eGFR, and CRP to these associations as the percentages of the explained variance of retinol. Results: VAD (retinol <1.05 mu mol/L) was present in 10% of this predominantly female, middle-aged, overweight, and deprived population. Hypertension, but not T2D, was positively associated with retinol (beta: 0.12; 95% CI: 0.08, 0,17), adjusted for age, sex, socioeconomic factors, anthropometric measurements, and lifestyle. In addition to RBP4 (72%) and prealbumin (22%), the effect of increased retinol on individuals with hypertension was mainly attributed to impaired kidney function (eGFR: 30%; urinary albumin: 5%) but not to inflammation. Conclusions: In patients with hypertension, VAD might be underestimated because of increased serum retinol in the context of kidney dysfunction. Thus, the interpretation of serum retinol in sub-Saharan Africa should account for hypertension status. KW - hypertension KW - inflammation KW - kidney dysfunction KW - type 2 diabetes KW - vitamin A deficiency Y1 - 2015 U6 - https://doi.org/10.3945/ajcn.114.101345 SN - 0002-9165 SN - 1938-3207 VL - 102 IS - 1 SP - 207 EP - 214 PB - American Society for Nutrition, Inc. CY - Bethesda ER - TY - JOUR A1 - Weber, Cornelia A1 - Frank, C. A1 - Bommel, Sebastian A1 - Rukat, Tammo A1 - Leitenberger, Wolfram A1 - Schäfer, Peter A1 - Schreiber, Frank A1 - Kowarik, Stefan T1 - Chain-length dependent growth dynamics of n-alkanes on silica investigated by energy-dispersive x-ray reflectivity in situ and in real-time JF - The journal of chemical physics : bridges a gap between journals of physics and journals of chemistr N2 - We compare the growth dynamics of the three n-alkanes C36H74, C40H82, and C44H90 on SiO2 using real-time and in situ energy-dispersive x-ray reflectivity. All molecules investigated align in an upright-standing orientation on the substrate and exhibit a transition from layer-by-layer growth to island growth after about 4 monolayers under the conditions employed. Simultaneous fits of the reflected intensity at five distinct points in reciprocal space show that films formed by longer n-alkanes roughen faster during growth. This behavior can be explained by a chain-length dependent height of the Ehrlich-Schwoebel barrier. Further x-ray diffraction measurements after growth indicate that films consisting of longer n-alkanes also incorporate more lying-down molecules in the top region. While the results reveal behavior typical for chain-like molecules, the findings can also be useful for the optimization of organic field effect transistors where smooth interlayers of n-alkanes without coexistence of two or more molecular orientations are required. Y1 - 2012 U6 - https://doi.org/10.1063/1.4719530 SN - 0021-9606 VL - 136 IS - 20 PB - American Institute of Physics CY - Melville ER - TY - JOUR A1 - van der Valk, Ralf J. P. A1 - Kreiner-Moller, Eskil A1 - Kooijman, Marjolein N. A1 - Guxens, Monica A1 - Stergiakouli, Evangelia A1 - Saaf, Annika A1 - Bradfield, Jonathan P. A1 - Geller, Frank A1 - Hayes, M. Geoffrey A1 - Cousminer, Diana L. A1 - Koerner, Antje A1 - Thiering, Elisabeth A1 - Curtin, John A. A1 - Myhre, Ronny A1 - Huikari, Ville A1 - Joro, Raimo A1 - Kerkhof, Marjan A1 - Warrington, Nicole M. A1 - Pitkanen, Niina A1 - Ntalla, Ioanna A1 - Horikoshi, Momoko A1 - Veijola, Riitta A1 - Freathy, Rachel M. A1 - Teo, Yik-Ying A1 - Barton, Sheila J. A1 - Evans, David M. A1 - Kemp, John P. A1 - St Pourcain, Beate A1 - Ring, Susan M. A1 - Smith, George Davey A1 - Bergstrom, Anna A1 - Kull, Inger A1 - Hakonarson, Hakon A1 - Mentch, Frank D. A1 - Bisgaard, Hans A1 - Chawes, Bo Lund Krogsgaard A1 - Stokholm, Jakob A1 - Waage, Johannes A1 - Eriksen, Patrick A1 - Sevelsted, Astrid A1 - Melbye, Mads A1 - van Duijn, Cornelia M. A1 - Medina-Gomez, Carolina A1 - Hofman, Albert A1 - de Jongste, Johan C. A1 - Taal, H. Rob A1 - Uitterlinden, Andre G. A1 - Armstrong, Loren L. A1 - Eriksson, Johan A1 - Palotie, Aarno A1 - Bustamante, Mariona A1 - Estivill, Xavier A1 - Gonzalez, Juan R. A1 - Llop, Sabrina A1 - Kiess, Wieland A1 - Mahajan, Anubha A1 - Flexeder, Claudia A1 - Tiesler, Carla M. T. A1 - Murray, Clare S. A1 - Simpson, Angela A1 - Magnus, Per A1 - Sengpiel, Verena A1 - Hartikainen, Anna-Liisa A1 - Keinanen-Kiukaanniemi, Sirkka A1 - Lewin, Alexandra A1 - Alves, Alexessander Da Silva Couto A1 - Blakemore, Alexandra I. F. A1 - Buxton, Jessica L. A1 - Kaakinen, Marika A1 - Rodriguez, Alina A1 - Sebert, Sylvain A1 - Vaarasmaki, Marja A1 - Lakka, Timo A1 - Lindi, Virpi A1 - Gehring, Ulrike A1 - Postma, Dirkje S. A1 - Ang, Wei A1 - Newnham, John P. A1 - Lyytikainen, Leo-Pekka A1 - Pahkala, Katja A1 - Raitakari, Olli T. A1 - Panoutsopoulou, Kalliope A1 - Zeggini, Eleftheria A1 - Boomsma, Dorret I. A1 - Groen-Blokhuis, Maria A1 - Ilonen, Jorma A1 - Franke, Lude A1 - Hirschhorn, Joel N. A1 - Pers, Tune H. A1 - Liang, Liming A1 - Huang, Jinyan A1 - Hocher, Berthold A1 - Knip, Mikael A1 - Saw, Seang-Mei A1 - Holloway, John W. A1 - Melen, Erik A1 - Grant, Struan F. A. A1 - Feenstra, Bjarke A1 - Lowe, William L. A1 - Widen, Elisabeth A1 - Sergeyev, Elena A1 - Grallert, Harald A1 - Custovic, Adnan A1 - Jacobsson, Bo A1 - Jarvelin, Marjo-Riitta A1 - Atalay, Mustafa A1 - Koppelman, Gerard H. A1 - Pennell, Craig E. A1 - Niinikoski, Harri A1 - Dedoussis, George V. A1 - Mccarthy, Mark I. A1 - Frayling, Timothy M. A1 - Sunyer, Jordi A1 - Timpson, Nicholas J. A1 - Rivadeneira, Fernando A1 - Bonnelykke, Klaus A1 - Jaddoe, Vincent W. V. T1 - A novel common variant in DCST2 is associated with length in early life and height in adulthood JF - Human molecular genetics N2 - Common genetic variants have been identified for adult height, but not much is known about the genetics of skeletal growth in early life. To identify common genetic variants that influence fetal skeletal growth, we meta-analyzed 22 genome-wide association studies (Stage 1; N = 28 459). We identified seven independent top single nucleotide polymorphisms (SNPs) (P < 1 x 10(-6)) for birth length, of which three were novel and four were in or near loci known to be associated with adult height (LCORL, PTCH1, GPR126 and HMGA2). The three novel SNPs were followed-up in nine replication studies (Stage 2; N = 11 995), with rs905938 in DC-STAMP domain containing 2 (DCST2) genome-wide significantly associated with birth length in a joint analysis (Stages 1 + 2; beta = 0.046, SE = 0.008, P = 2.46 x 10(-8), explained variance = 0.05%). Rs905938 was also associated with infant length (N = 28 228; P = 5.54 x 10(-4)) and adult height (N = 127 513; P = 1.45 x 10(-5)). DCST2 is a DC-STAMP-like protein family member and DC-STAMP is an osteoclast cell-fusion regulator. Polygenic scores based on 180 SNPs previously associated with human adult stature explained 0.13% of variance in birth length. The same SNPs explained 2.95% of the variance of infant length. Of the 180 known adult height loci, 11 were genome-wide significantly associated with infant length (SF3B4, LCORL, SPAG17, C6orf173, PTCH1, GDF5, ZNFX1, HHIP, ACAN, HLA locus and HMGA2). This study highlights that common variation in DCST2 influences variation in early growth and adult height. Y1 - 2015 U6 - https://doi.org/10.1093/hmg/ddu510 SN - 0964-6906 SN - 1460-2083 VL - 24 IS - 4 SP - 1155 EP - 1168 PB - Oxford Univ. Press CY - Oxford ER - TY - JOUR A1 - Beaumont, Robin N. A1 - Warrington, Nicole M. A1 - Cavadino, Alana A1 - Tyrrell, Jessica A1 - Nodzenski, Michael A1 - Horikoshi, Momoko A1 - Geller, Frank A1 - Myhre, Ronny A1 - Richmond, Rebecca C. A1 - Paternoster, Lavinia A1 - Bradfield, Jonathan P. A1 - Kreiner-Moller, Eskil A1 - Huikari, Ville A1 - Metrustry, Sarah A1 - Lunetta, Kathryn L. A1 - Painter, Jodie N. A1 - Hottenga, Jouke-Jan A1 - Allard, Catherine A1 - Barton, Sheila J. A1 - Espinosa, Ana A1 - Marsh, Julie A. A1 - Potter, Catherine A1 - Zhang, Ge A1 - Ang, Wei A1 - Berry, Diane J. A1 - Bouchard, Luigi A1 - Das, Shikta A1 - Hakonarson, Hakon A1 - Heikkinen, Jani A1 - Helgeland, Oyvind A1 - Hocher, Berthold A1 - Hofman, Albert A1 - Inskip, Hazel M. A1 - Jones, Samuel E. A1 - Kogevinas, Manolis A1 - Lind, Penelope A. A1 - Marullo, Letizia A1 - Medland, Sarah E. A1 - Murray, Anna A1 - Murray, Jeffrey C. A1 - Njolstad, Pal R. A1 - Nohr, Ellen A. A1 - Reichetzeder, Christoph A1 - Ring, Susan M. A1 - Ruth, Katherine S. A1 - Santa-Marina, Loreto A1 - Scholtens, Denise M. A1 - Sebert, Sylvain A1 - Sengpiel, Verena A1 - Tuke, Marcus A. A1 - Vaudel, Marc A1 - Weedon, Michael N. A1 - Willemsen, Gonneke A1 - Wood, Andrew R. A1 - Yaghootkar, Hanieh A1 - Muglia, Louis J. A1 - Bartels, Meike A1 - Relton, Caroline L. A1 - Pennell, Craig E. A1 - Chatzi, Leda A1 - Estivill, Xavier A1 - Holloway, John W. A1 - Boomsma, Dorret I. A1 - Montgomery, Grant W. A1 - Murabito, Joanne M. A1 - Spector, Tim D. A1 - Power, Christine A1 - Jarvelin, Marjo-Ritta A1 - Bisgaard, Hans A1 - Grant, Struan F. A. A1 - Sorensen, Thorkild I. A. A1 - Jaddoe, Vincent W. A1 - Jacobsson, Bo A1 - Melbye, Mads A1 - McCarthy, Mark I. A1 - Hattersley, Andrew T. A1 - Hayes, M. Geoffrey A1 - Frayling, Timothy M. A1 - Hivert, Marie-France A1 - Felix, Janine F. A1 - Hypponen, Elina A1 - Lowe, William L. A1 - Evans, David M. A1 - Lawlor, Debbie A. A1 - Feenstra, Bjarke A1 - Freathy, Rachel M. T1 - Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics JF - Human molecular genetics N2 - Genome-wide association studies of birth weight have focused on fetal genetics, whereas relatively little is known about the role of maternal genetic variation. We aimed to identify maternal genetic variants associated with birth weight that could highlight potentially relevant maternal determinants of fetal growth. We meta-analysed data on up to 8.7 million SNPs in up to 86 577 women of European descent from the Early Growth Genetics (EGG) Consortium and the UK Biobank. We used structural equation modelling (SEM) and analyses of mother-child pairs to quantify the separate maternal and fetal genetic effects. Maternal SNPs at 10 loci (MTNR1B, HMGA2, SH2B3, KCNAB1, L3MBTL3, GCK, EBF1, TCF7L2, ACTL9, CYP3A7) were associated with offspring birth weight at P< 5 x 10(-8). In SEM analyses, at least 7 of the 10 associations were consistent with effects of the maternal genotype acting via the intrauterine environment, rather than via effects of shared alleles with the fetus. Variants, or correlated proxies, at many of the loci had been previously associated with adult traits, including fasting glucose (MTNR1B, GCK and TCF7L2) and sex hormone levels (CYP3A7), and one (EBF1) with gestational duration. The identified associations indicate that genetic effects on maternal glucose, cytochrome P450 activity and gestational duration, and potentially on maternal blood pressure and immune function, are relevant for fetal growth. Further characterization of these associations in mechanistic and causal analyses will enhance understanding of the potentially modifiable maternal determinants of fetal growth, with the goal of reducing the morbidity and mortality associated with low and high birth weights. Y1 - 2018 U6 - https://doi.org/10.1093/hmg/ddx429 SN - 0964-6906 SN - 1460-2083 VL - 27 IS - 4 SP - 742 EP - 756 PB - Oxford Univ. Press CY - Oxford ER - TY - JOUR A1 - Forster, Hans-Jürgen A1 - Cooper, Mark A. A1 - Roberts, Andrew C. A1 - Stanley, Chris J. A1 - Criddle, Alan J. A1 - Hawthorne, Frank C. A1 - Laflamme, J. H. Gilles A1 - Tischendorf, Gerhard T1 - Schlemaite, (Cu,square)(6)(Pb,Bi)Se-4, a new mineral species from Niederschlema-Alberoda, Erzgebirge, Germany : Description and crystal structure N2 - Schlemaite, with the simplified formula (Cu,rectangle)(6)(Pb,Bi)Se-4, is a new mineral species from the Niederschlema-Alberoda vein-type uranium deposit at Hartenstein, Erzgebirge, Germany. It occurs as anhedral to subhedral grains with no obvious forms or twinning, in aggregates of up to several hundred mum across, with berzelianite, eucairite and clausthalite in a dolomite-ankerite matrix. Schlemaite is black with a black streak and opaque with a metallic luster. It is brittle with an uneven fracture and no observable cleavage. It has a mean VHN (25 g load) of 106 kg/mm(2), which roughly equates to a Mobs hardness of 3. In plane-polarized reflected light, schlemaite is grey, non- pleochroic with a very weak bireflectance. It has very weak anisotropy, with rotation tints in shades of very pale metallic orange and blue, and shows no internal reflections. Electron-microprobe analyses yielded a mean composition Cu 38.86, Ag 2.57, An 0.07, Hg 0.09, Pb 13.75, Bi 9.12, Se 35.11, total 99.57 wt.%. The empirical formula (based on 4 Se apfu) is (Cu5.50Ag0.21)(Sigma5.71)(Pb0.60Bi0.39)(Sigma0.99)Se-4. The calculated density is 7.54 g/cm(3) (based on the empirical formula and unit-cell parameters refined from single-crystal data). Schlemaite is monoclinic, P2(1)/m, a 9.5341(8), b 4.1004(3), c 10.2546(8) Angstrom, beta 100.066(2)degrees, V 394.72(9) Angstrom(3), a:b:c 2.3252:1:2.5009, Z = 2. The crystal structure of schlemaite was solved by direct methods and refined to an R index of 4.8% using 1303 unique reflections collected on a four-circle diffractometer equipped with a CCD detector. The structure consists of intercalated ordered and disordered layers. The ordered layer consists of ladders of Ph2+ + Bi3+ coordinated by Se, the former showing strong lone-pair-stereoactive effects, and a network of Cu+ coordinated by Se anions. The disordered layer consists of an array of sites partly occupied by Cu+ and Ag+ in a variety of coordinations, and is characterized by strong short-range order. The strongest seven lines of the X-ray powder-diffraction pattern [d in Angstrom(I)(hkl)] are: 3.189(100)(012), 3.132(100)(112), 2.601(70)(113), 2.505(50)(311), 2.151(60)(014), 2.058(80)(020) and 1.909(50)(314). Although schlemaite is chemically similar to furutobeite, (Cu,Ag)(6)PbS4, it is not isostructural with it. The mineral is named after the Schlema-Alberoda uranium ore field near Schneeberg in the ancient mining region of Saxony, Germany Y1 - 2003 ER -