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JOURNAL ARTICLE
James J Lee, Robbee Wedow, Aysu Okbay, Edward Kong, Omeed Maghzian, Meghan Zacher, Tuan Anh Nguyen-Viet, Peter Bowers, Julia Sidorenko, Richard Karlsson Linnér, Mark Alan Fontana, Tushar Kundu, Chanwook Lee, Hui Li, Ruoxi Li, Rebecca Royer, Pascal N Timshel, Raymond K Walters, Emily A Willoughby, Loïc Yengo, Maris Alver, Yanchun Bao, David W Clark, Felix R Day, Nicholas A Furlotte, Peter K Joshi, Kathryn E Kemper, Aaron Kleinman, Claudia Langenberg, Reedik Mägi, Joey W Trampush, Shefali Setia Verma, Yang Wu, Max Lam, Jing Hua Zhao, Zhili Zheng, Jason D Boardman, Harry Campbell, Jeremy Freese, Kathleen Mullan Harris, Caroline Hayward, Pamela Herd, Meena Kumari, Todd Lencz, Jian'an Luan, Anil K Malhotra, Andres Metspalu, Lili Milani, Ken K Ong, John R B Perry, David J Porteous, Marylyn D Ritchie, Melissa C Smart, Blair H Smith, Joyce Y Tung, Nicholas J Wareham, James F Wilson, Jonathan P Beauchamp, Dalton C Conley, Tõnu Esko, Steven F Lehrer, Patrik K E Magnusson, Sven Oskarsson, Tune H Pers, Matthew R Robinson, Kevin Thom, Chelsea Watson, Christopher F Chabris, Michelle N Meyer, David I Laibson, Jian Yang, Magnus Johannesson, Philipp D Koellinger, Patrick Turley, Peter M Visscher, Daniel J Benjamin, David Cesarini
Here we conducted a large-scale genetic association analysis of educational attainment in a sample of approximately 1.1 million individuals and identify 1,271 independent genome-wide-significant SNPs. For the SNPs taken together, we found evidence of heterogeneous effects across environments. The SNPs implicate genes involved in brain-development processes and neuron-to-neuron communication. In a separate analysis of the X chromosome, we identify 10 independent genome-wide-significant SNPs and estimate a SNP heritability of around 0...
July 23, 2018: Nature Genetics
#22
JOURNAL ARTICLE
R Orosei, S E Lauro, E Pettinelli, A Cicchetti, M Coradini, B Cosciotti, F Di Paolo, E Flamini, E Mattei, M Pajola, F Soldovieri, M Cartacci, F Cassenti, A Frigeri, S Giuppi, R Martufi, A Masdea, G Mitri, C Nenna, R Noschese, M Restano, R Seu
The presence of liquid water at the base of the martian polar caps has long been suspected but not observed. We surveyed the Planum Australe region using the MARSIS (Mars Advanced Radar for Subsurface and Ionosphere Sounding) instrument, a low-frequency radar on the Mars Express spacecraft. Radar profiles collected between May 2012 and December 2015 contain evidence of liquid water trapped below the ice of the South Polar Layered Deposits. Anomalously bright subsurface reflections are evident within a well-defined, 20-kilometer-wide zone centered at 193°E, 81°S, which is surrounded by much less reflective areas...
August 3, 2018: Science
#23
JOURNAL ARTICLE
Elisabetta Barbi, Francesco Lagona, Marco Marsili, James W Vaupel, Kenneth W Wachter
Theories about biological limits to life span and evolutionary shaping of human longevity depend on facts about mortality at extreme ages, but these facts have remained a matter of debate. Do hazard curves typically level out into high plateaus eventually, as seen in other species, or do exponential increases persist? In this study, we estimated hazard rates from data on all inhabitants of Italy aged 105 and older between 2009 and 2015 (born 1896-1910), a total of 3836 documented cases. We observed level hazard curves, which were essentially constant beyond age 105...
June 29, 2018: Science
#24
JOURNAL ARTICLE
Thuy T M Ngo, Mira N Moufarrej, Marie-Louise H Rasmussen, Joan Camunas-Soler, Wenying Pan, Jennifer Okamoto, Norma F Neff, Keli Liu, Ronald J Wong, Katheryne Downes, Robert Tibshirani, Gary M Shaw, Line Skotte, David K Stevenson, Joseph R Biggio, Michal A Elovitz, Mads Melbye, Stephen R Quake
Noninvasive blood tests that provide information about fetal development and gestational age could potentially improve prenatal care. Ultrasound, the current gold standard, is not always affordable in low-resource settings and does not predict spontaneous preterm birth, a leading cause of infant death. In a pilot study of 31 healthy pregnant women, we found that measurement of nine cell-free RNA (cfRNA) transcripts in maternal blood predicted gestational age with comparable accuracy to ultrasound but at substantially lower cost...
June 8, 2018: Science
#25
JOURNAL ARTICLE
Christopher M Lowery, Timothy J Bralower, Jeremy D Owens, Francisco J Rodríguez-Tovar, Heather Jones, Jan Smit, Michael T Whalen, Phillipe Claeys, Kenneth Farley, Sean P S Gulick, Joanna V Morgan, Sophie Green, Elise Chenot, Gail L Christeson, Charles S Cockell, Marco J L Coolen, Ludovic Ferrière, Catalina Gebhardt, Kazuhisa Goto, David A Kring, Johanna Lofi, Rubén Ocampo-Torres, Ligia Perez-Cruz, Annemarie E Pickersgill, Michael H Poelchau, Auriol S P Rae, Cornelia Rasmussen, Mario Rebolledo-Vieyra, Ulrich Riller, Honami Sato, Sonia M Tikoo, Naotaka Tomioka, Jaime Urrutia-Fucugauchi, Johan Vellekoop, Axel Wittmann, Long Xiao, Kosei E Yamaguchi, William Zylberman
The Cretaceous/Palaeogene mass extinction eradicated 76% of species on Earth1,2 . It was caused by the impact of an asteroid3,4 on the Yucatán carbonate platform in the southern Gulf of Mexico 66 million years ago 5 , forming the Chicxulub impact crater6,7 . After the mass extinction, the recovery of the global marine ecosystem-measured as primary productivity-was geographically heterogeneous 8 ; export production in the Gulf of Mexico and North Atlantic-western Tethys was slower than in most other regions8-11 , taking 300 thousand years (kyr) to return to levels similar to those of the Late Cretaceous period...
June 2018: Nature
#26
JOURNAL ARTICLE
Tobias Hirsch, Tobias Rothoeft, Norbert Teig, Johann W Bauer, Graziella Pellegrini, Laura De Rosa, Davide Scaglione, Julia Reichelt, Alfred Klausegger, Daniela Kneisz, Oriana Romano, Alessia Secone Seconetti, Roberta Contin, Elena Enzo, Irena Jurman, Sonia Carulli, Frank Jacobsen, Thomas Luecke, Marcus Lehnhardt, Meike Fischer, Maximilian Kueckelhaus, Daniela Quaglino, Michele Morgante, Silvio Bicciato, Sergio Bondanza, Michele De Luca
Junctional epidermolysis bullosa (JEB) is a severe and often lethal genetic disease caused by mutations in genes encoding the basement membrane component laminin-332. Surviving patients with JEB develop chronic wounds to the skin and mucosa, which impair their quality of life and lead to skin cancer. Here we show that autologous transgenic keratinocyte cultures regenerated an entire, fully functional epidermis on a seven-year-old child suffering from a devastating, life-threatening form of JEB. The proviral integration pattern was maintained in vivo and epidermal renewal did not cause any clonal selection...
November 16, 2017: Nature
#27
JOURNAL ARTICLE
Marc J Gunter, Neil Murphy, Amanda J Cross, Laure Dossus, Laureen Dartois, Guy Fagherazzi, Rudolf Kaaks, Tilman Kühn, Heiner Boeing, Krasimira Aleksandrova, Anne Tjønneland, Anja Olsen, Kim Overvad, Sofus Christian Larsen, Maria Luisa Redondo Cornejo, Antonio Agudo, María José Sánchez Pérez, Jone M Altzibar, Carmen Navarro, Eva Ardanaz, Kay-Tee Khaw, Adam Butterworth, Kathryn E Bradbury, Antonia Trichopoulou, Pagona Lagiou, Dimitrios Trichopoulos, Domenico Palli, Sara Grioni, Paolo Vineis, Salvatore Panico, Rosario Tumino, Bas Bueno-de-Mesquita, Peter Siersema, Max Leenders, Joline W J Beulens, Cuno U Uiterwaal, Peter Wallström, Lena Maria Nilsson, Rikard Landberg, Elisabete Weiderpass, Guri Skeie, Tonje Braaten, Paul Brennan, Idlir Licaj, David C Muller, Rashmi Sinha, Nick Wareham, Elio Riboli
BACKGROUND: The relationship between coffee consumption and mortality in diverse European populations with variable coffee preparation methods is unclear. OBJECTIVE: To examine whether coffee consumption is associated with all-cause and cause-specific mortality. DESIGN: Prospective cohort study. SETTING: 10 European countries. PARTICIPANTS: 521 330 persons enrolled in EPIC (European Prospective Investigation into Cancer and Nutrition)...
August 15, 2017: Annals of Internal Medicine
#28
JOURNAL ARTICLE
Julia A Leonard, Yuna Lee, Laura E Schulz
Persistence, above and beyond IQ, is associated with long-term academic outcomes. To look at the effect of adult models on infants' persistence, we conducted an experiment in which 15-month-olds were assigned to one of three conditions: an Effort condition in which they saw an adult try repeatedly, using various methods, to achieve each of two different goals; a No Effort condition in which the adult achieved the goals effortlessly; or a Baseline condition. Infants were then given a difficult, novel task. Across an initial study and two preregistered experiments ( N = 262), infants in the Effort condition made more attempts to achieve the goal than did infants in the other conditions...
September 22, 2017: Science
#29
LETTER
Mary Soon Lee
No abstract text is available yet for this article.
August 4, 2017: Science
#30
JOURNAL ARTICLE
Alexandra Witze
No abstract text is available yet for this article.
August 30, 2017: Nature
#31
JOURNAL ARTICLE
Emily E Bray, Mary D Sammel, Dorothy L Cheney, James A Serpell, Robert M Seyfarth
A continuing debate in studies of social development in both humans and other animals is the extent to which early life experiences affect adult behavior. Also unclear are the relative contributions of cognitive skills ("intelligence") and temperament for successful outcomes. Guide dogs are particularly suited to research on these questions. To succeed as a guide dog, individuals must accomplish complex navigation and decision making without succumbing to distractions and unforeseen obstacles. Faced with these rigorous demands, only ∼70% of dogs that enter training ultimately achieve success...
August 22, 2017: Proceedings of the National Academy of Sciences of the United States of America
#32
JOURNAL ARTICLE
Heidi Ledford
No abstract text is available yet for this article.
August 2, 2017: Nature
#33
JOURNAL ARTICLE
Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium.
Terrence F Meehan, Nathalie Conte, David B West, Julius O Jacobsen, Jeremy Mason, Jonathan Warren, Chao-Kung Chen, Ilinca Tudose, Mike Relac, Peter Matthews, Natasha Karp, Luis Santos, Tanja Fiegel, Natalie Ring, Henrik Westerberg, Simon Greenaway, Duncan Sneddon, Hugh Morgan, Gemma F Codner, Michelle E Stewart, James Brown, Neil Horner, Melissa Haendel, Nicole Washington, Christopher J Mungall, Corey L Reynolds, Juan Gallegos, Valerie Gailus-Durner, Tania Sorg, Guillaume Pavlovic, Lynette R Bower, Mark Moore, Iva Morse, Xiang Gao, Glauco P Tocchini-Valentini, Yuichi Obata, Soo Young Cho, Je Kyung Seong, John Seavitt, Arthur L Beaudet, Mary E Dickinson, Yann Herault, Wolfgang Wurst, Martin Hrabe de Angelis, K C Kent Lloyd, Ann M Flenniken, Lauryl M J Nutter, Susan Newbigging, Colin McKerlie, Monica J Justice, Stephen A Murray, Karen L Svenson, Robert E Braun, Jacqueline K White, Allan Bradley, Paul Flicek, Sara Wells, William C Skarnes, David J Adams, Helen Parkinson, Ann-Marie Mallon, Steve D M Brown, Damian Smedley
Although next-generation sequencing has revolutionized the ability to associate variants with human diseases, diagnostic rates and development of new therapies are still limited by a lack of knowledge of the functions and pathobiological mechanisms of most genes. To address this challenge, the International Mouse Phenotyping Consortium is creating a genome- and phenome-wide catalog of gene function by characterizing new knockout-mouse strains across diverse biological systems through a broad set of standardized phenotyping tests...
August 2017: Nature Genetics
#34
JOURNAL ARTICLE
Anke R Hammerschlag, Sven Stringer, Christiaan A de Leeuw, Suzanne Sniekers, Erdogan Taskesen, Kyoko Watanabe, Tessa F Blanken, Kim Dekker, Bart H W Te Lindert, Rick Wassing, Ingileif Jonsdottir, Gudmar Thorleifsson, Hreinn Stefansson, Thorarinn Gislason, Klaus Berger, Barbara Schormair, Juergen Wellmann, Juliane Winkelmann, Kari Stefansson, Konrad Oexle, Eus J W Van Someren, Danielle Posthuma
Persistent insomnia is among the most frequent complaints in general practice. To identify genetic factors for insomnia complaints, we performed a genome-wide association study (GWAS) and a genome-wide gene-based association study (GWGAS) in 113,006 individuals. We identify three loci and seven genes associated with insomnia complaints, with the associations for one locus and five genes supported by joint analysis with an independent sample (n = 7,565). Our top association (MEIS1, P < 5 × 10-8 ) has previously been implicated in restless legs syndrome (RLS)...
November 2017: Nature Genetics
#35
JOURNAL ARTICLE
Suzanne Sniekers, Sven Stringer, Kyoko Watanabe, Philip R Jansen, Jonathan R I Coleman, Eva Krapohl, Erdogan Taskesen, Anke R Hammerschlag, Aysu Okbay, Delilah Zabaneh, Najaf Amin, Gerome Breen, David Cesarini, Christopher F Chabris, William G Iacono, M Arfan Ikram, Magnus Johannesson, Philipp Koellinger, James J Lee, Patrik K E Magnusson, Matt McGue, Mike B Miller, William E R Ollier, Antony Payton, Neil Pendleton, Robert Plomin, Cornelius A Rietveld, Henning Tiemeier, Cornelia M van Duijn, Danielle Posthuma
Intelligence is associated with important economic and health-related life outcomes. Despite intelligence having substantial heritability (0.54) and a confirmed polygenic nature, initial genetic studies were mostly underpowered. Here we report a meta-analysis for intelligence of 78,308 individuals. We identify 336 associated SNPs (METAL P < 5 × 10-8 ) in 18 genomic loci, of which 15 are new. Around half of the SNPs are located inside a gene, implicating 22 genes, of which 11 are new findings. Gene-based analyses identified an additional 30 genes (MAGMA P < 2...
July 2017: Nature Genetics
#36
JOURNAL ARTICLE
Clemens Plaschka, Pei-Chun Lin, Kiyoshi Nagai
Intron removal requires assembly of the spliceosome on precursor mRNA (pre-mRNA) and extensive remodelling to form the spliceosome's catalytic centre. Here we report the cryo-electron microscopy structure of the yeast Saccharomyces cerevisiae pre-catalytic B complex spliceosome at near-atomic resolution. The mobile U2 small nuclear ribonucleoprotein particle (snRNP) associates with U4/U6.U5 tri-snRNP through the U2/U6 helix II and an interface between U4/U6 di-snRNP and the U2 snRNP SF3b-containing domain, which also transiently contacts the helicase Brr2...
June 29, 2017: Nature
#37
JOURNAL ARTICLE
Peter J Thul, Lovisa Åkesson, Mikaela Wiking, Diana Mahdessian, Aikaterini Geladaki, Hammou Ait Blal, Tove Alm, Anna Asplund, Lars Björk, Lisa M Breckels, Anna Bäckström, Frida Danielsson, Linn Fagerberg, Jenny Fall, Laurent Gatto, Christian Gnann, Sophia Hober, Martin Hjelmare, Fredric Johansson, Sunjae Lee, Cecilia Lindskog, Jan Mulder, Claire M Mulvey, Peter Nilsson, Per Oksvold, Johan Rockberg, Rutger Schutten, Jochen M Schwenk, Åsa Sivertsson, Evelina Sjöstedt, Marie Skogs, Charlotte Stadler, Devin P Sullivan, Hanna Tegel, Casper Winsnes, Cheng Zhang, Martin Zwahlen, Adil Mardinoglu, Fredrik Pontén, Kalle von Feilitzen, Kathryn S Lilley, Mathias Uhlén, Emma Lundberg
Resolving the spatial distribution of the human proteome at a subcellular level can greatly increase our understanding of human biology and disease. Here we present a comprehensive image-based map of subcellular protein distribution, the Cell Atlas, built by integrating transcriptomics and antibody-based immunofluorescence microscopy with validation by mass spectrometry. Mapping the in situ localization of 12,003 human proteins at a single-cell level to 30 subcellular structures enabled the definition of the proteomes of 13 major organelles...
May 26, 2017: Science
#38
REVIEW
Martin Poryo, Sara Khosrawikatoli, Hashim Abdul-Khaliq, Sascha Meyer
Evidence-based medicine has contributed substantially to the quality of medical care in pediatric and adult cardiology. However, our impression from the bedside is that a substantial number of Cochrane reviews generate inconclusive data that are of limited clinical benefit. We performed a systematic synopsis of Cochrane reviews published between 2001 and 2015 in the field of pediatric cardiology. Main outcome parameters were the number and percentage of conclusive, partly conclusive, and inconclusive reviews as well as their recommendations and their development over three a priori defined intervals...
April 2017: Pediatric Cardiology
#39
JOURNAL ARTICLE
Justin J Boutilier, Steven C Brooks, Alyf Janmohamed, Adam Byers, Jason E Buick, Cathy Zhan, Angela P Schoellig, Sheldon Cheskes, Laurie J Morrison, Timothy C Y Chan
BACKGROUND: Public access defibrillation programs can improve survival after out-of-hospital cardiac arrest, but automated external defibrillators (AEDs) are rarely available for bystander use at the scene. Drones are an emerging technology that can deliver an AED to the scene of an out-of-hospital cardiac arrest for bystander use. We hypothesize that a drone network designed with the aid of a mathematical model combining both optimization and queuing can reduce the time to AED arrival...
June 20, 2017: Circulation
#40
JOURNAL ARTICLE
Chung-Chau Hon, Jordan A Ramilowski, Jayson Harshbarger, Nicolas Bertin, Owen J L Rackham, Julian Gough, Elena Denisenko, Sebastian Schmeier, Thomas M Poulsen, Jessica Severin, Marina Lizio, Hideya Kawaji, Takeya Kasukawa, Masayoshi Itoh, A Maxwell Burroughs, Shohei Noma, Sarah Djebali, Tanvir Alam, Yulia A Medvedeva, Alison C Testa, Leonard Lipovich, Chi-Wai Yip, Imad Abugessaisa, Mickaël Mendez, Akira Hasegawa, Dave Tang, Timo Lassmann, Peter Heutink, Magda Babina, Christine A Wells, Soichi Kojima, Yukio Nakamura, Harukazu Suzuki, Carsten O Daub, Michiel J L de Hoon, Erik Arner, Yoshihide Hayashizaki, Piero Carninci, Alistair R R Forrest
Long non-coding RNAs (lncRNAs) are largely heterogeneous and functionally uncharacterized. Here, using FANTOM5 cap analysis of gene expression (CAGE) data, we integrate multiple transcript collections to generate a comprehensive atlas of 27,919 human lncRNA genes with high-confidence 5' ends and expression profiles across 1,829 samples from the major human primary cell types and tissues. Genomic and epigenomic classification of these lncRNAs reveals that most intergenic lncRNAs originate from enhancers rather than from promoters...
March 9, 2017: Nature
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