Read by QxMD icon Read

Mark Daly

Stephan J Sanders, Benjamin M Neale, Hailiang Huang, Donna M Werling, Joon-Yong An, Shan Dong, Goncalo Abecasis, P Alexander Arguello, John Blangero, Michael Boehnke, Mark J Daly, Kevin Eggan, Daniel H Geschwind, David C Glahn, David B Goldstein, Raquel E Gur, Robert E Handsaker, Steven A McCarroll, Roel A Ophoff, Aarno Palotie, Carlos N Pato, Chiara Sabatti, Matthew W State, A Jeremy Willsey, Steven E Hyman, Anjene M Addington, Thomas Lehner, Nelson B Freimer
In the version of this article initially published, the consortium authorship and corresponding authors were not presented correctly. In the PDF and print versions, the Whole Genome Sequencing for Psychiatric Disorders (WGSPD) consortium was missing from the author list at the beginning of the paper, where it should have appeared as the seventh author; it was present in the author list at the end of the paper, but the footnote directing readers to the Supplementary Note for a list of members was missing. In the HTML version, the consortium was listed as the last author instead of as the seventh, and the line directing readers to the Supplementary Note for a list of members appeared at the end of the paper under Author Information but not in association with the consortium name itself...
March 16, 2018: Nature Neuroscience
Robert Hecht, Lindsey Hiebert, Wendy C Spearman, Mark W Sonderup, Teresa Guthrie, Timothy B Hallett, Shevanthi Nayagam, Homie Razavi, Shan Soe-Lin, Kgomotso Vilakazi-Nhlapo, Yogan Pillay, Stephen Resch
Even though WHO has approved global goals for hepatitis elimination, most countries have yet to establish programs for hepatitis B and C, which account for 320 million infections and over a million deaths annually. One reason for this slow response is the paucity of robust, compelling analyses showing that national HBV/HCV programs could have a significant impact on these epidemics and save lives in a cost-effective, affordable manner. In this context, our team used an investment case approach to develop a national hepatitis action plan for South Africa, grounded in a process of intensive engagement of local stakeholders...
February 26, 2018: Health Policy and Planning
Mykyta Artomov, Alexander J Stratigos, Ivana Kim, Raj Kumar, Martin Lauss, Bobby Y Reddy, Benchun Miao, Carla Daniela Robles-Espinoza, Aravind Sankar, Ching-Ni Njauw, Kristen Shannon, Evangelos S Gragoudas, Anne Marie Lane, Vivek Iyer, Julia A Newton-Bishop, D Timothy Bishop, Elizabeth A Holland, Graham J Mann, Tarjinder Singh, Mark J Daly, Hensin Tsao
Background: Extraordinary progress has been made in our understanding of common variants in many diseases, including melanoma. Because the contribution of rare coding variants is not as well characterized, we performed an exome-wide, gene-based association study of familial cutaneous melanoma (CM) and ocular melanoma (OM). Methods: Using 11 990 jointly processed individual DNA samples, whole-exome sequencing was performed, followed by large-scale joint variant calling using GATK (Genome Analysis ToolKit)...
December 1, 2017: Journal of the National Cancer Institute
John Mascarenhas, Ronald Hoffman, Moshe Talpaz, Aaron T Gerds, Brady Stein, Vikas Gupta, Anita Szoke, Mark Drummond, Alexander Pristupa, Tanya Granston, Robert Daly, Suliman Al-Fayoumi, Jennifer A Callahan, Jack W Singer, Jason Gotlib, Catriona Jamieson, Claire Harrison, Ruben Mesa, Srdan Verstovsek
Importance: Myelofibrosis is a hematologic malignancy characterized by splenomegaly and debilitating symptoms. Thrombocytopenia is a poor prognostic feature and limits use of Janus kinase 1 (JAK1)/Janus kinase 2 (JAK2) inhibitor ruxolitinib. Objective: To compare the efficacy and safety of JAK2 inhibitor pacritinib with that of best available therapy (BAT), including ruxolitinib, in patients with myelofibrosis and thrombocytopenia. Design, Setting, and Participants: For this phase 3 randomized international multicenter study-the PERSIST-2 study-of pacritinib vs BAT, 311 patients with myelofibrosis and platelet count 100 × 109/L or less were recruited for analysis...
March 8, 2018: JAMA Oncology
Mark J Daly
No abstract text is available yet for this article.
March 1, 2018: American Journal of Human Genetics
Eric L Hurwitz, Kristi Randhawa, Hainan Yu, Pierre Côté, Scott Haldeman
PURPOSE: This article summarizes relevant findings related to low back and neck pain from the Global Burden of Disease (GBD) reports for the purpose of informing the Global Spine Care Initiative. METHODS: We reviewed and summarized back and neck pain burden data from two studies that were published in Lancet in 2016, namely: "Global, regional, and national incidence, prevalence, and years lived with disability for 310 diseases and injuries, 1990-2015: a systematic analysis for the Global Burden of Disease Study 2015" and "Global, regional, and national disability-adjusted life years (DALYs) for 315 diseases and injuries and healthy life expectancy (HALE), 1990-2015: a systematic analysis for the Global Burden of Disease Study 2015...
February 26, 2018: European Spine Journal
Zeqing Ma, Dali Guo, Xingliang Xu, Mingzhen Lu, Richard D Bardgett, David M Eissenstat, M Luke McCormack, Lars O Hedin
Plant roots have greatly diversified in form and function since the emergence of the first land plants, but the global organization of functional traits in roots remains poorly understood. Here we analyse a global dataset of 10 functionally important root traits in metabolically active first-order roots, collected from 369 species distributed across the natural plant communities of 7 biomes. Our results identify a high degree of organization of root traits across species and biomes, and reveal a pattern that differs from expectations based on previous studies of leaf traits...
February 21, 2018: Nature
Lee A Denson, Ingrid Jurickova, Rebekah Karns, Kelly A Shaw, David J Cutler, David Okou, Anne Dodd, Kathryn Quinn, Kajari Mondal, Bruce J Aronow, Yael Haberman, Aaron Linn, Adam Price, Ramona Bezold, Kathleen Lake, Kimberly Jackson, Thomas D Walters, Anne Griffiths, Robert N Baldassano, Joshua D Noe, Jeffrey S Hyams, Wallace V Crandall, Barbara S Kirschner, Melvin B Heyman, Scott Snapper, Stephen L Guthery, Marla C Dubinsky, Neal S Leleiko, Anthony R Otley, Ramnik J Xavier, Christine Stevens, Mark J Daly, Michael E Zwick, Subra Kugathasan
BACKGROUND & AIMS: Individuals with monogenic disorders of phagocyte function develop chronic colitis that resembles Crohn's Disease (CD). We tested for associations between mutations in genes encoding NADPH oxidases, neutrophil function, and phenotypes of CD in pediatric patients. METHODS: We performed whole-exome sequence analysis to identify mutations in genes encoding NADPH oxidases (such as CYBA, CYBB, NCF1, NCF2, NCF4, RAC1, and RAC2) using DNA from 543 pediatric patients with inflammatory bowel diseases...
February 15, 2018: Gastroenterology
Christopher Troeger, Danny V Colombara, Puja C Rao, Ibrahim A Khalil, Alexandria Brown, Thomas G Brewer, Richard L Guerrant, Eric R Houpt, Karen L Kotloff, Kavita Misra, William A Petri, James Platts-Mills, Mark S Riddle, Scott J Swartz, Mohammad H Forouzanfar, Robert C Reiner, Simon I Hay, Ali H Mokdad
BACKGROUND: Diarrhoea is a leading cause of death and illness globally among children younger than 5 years. Mortality and short-term morbidity cause substantial burden of disease but probably underestimate the true effect of diarrhoea on population health. This underestimation is because diarrhoeal diseases can negatively affect early childhood growth, probably through enteric dysfunction and impaired uptake of macronutrients and micronutrients. We attempt to quantify the long-term sequelae associated with childhood growth impairment due to diarrhoea...
March 2018: Lancet Global Health
Vishnu Mohanan, Toru Nakata, A Nicole Desch, Chloé Lévesque, Angela Boroughs, Gaelen Guzman, Zhifang Cao, Elizabeth Creasey, Junmei Yao, Gabrielle Boucher, Guy Charron, Atul K Bhan, Monica Schenone, Steven A Carr, Hans-Christian Reinecker, Mark J Daly, John D Rioux, Kara G Lassen, Ramnik J Xavier
Polymorphisms in C1orf106 are associated with increased risk of inflammatory bowel disease (IBD). However, the function of C1orf106 and the consequences of disease-associated polymorphisms are unknown. Here we demonstrate that C1orf106 regulates adherens junction stability by regulating the degradation of cytohesin-1, a guanine nucleotide exchange factor that controls activation of ARF6. By limiting cytohesin-1-dependent ARF6 activation, C1orf106 stabilizes adherens junctions. Consistent with this model, C1orf106 -/-mice exhibit defects in the intestinal epithelial cell barrier, a phenotype observed in IBD patients that confers increased susceptibility to intestinal pathogens...
February 1, 2018: Science
Diego Augusto Santos Silva, Mark Stephen Tremblay, Maria de Fatima Marinho de Souza, Meghan Mooney, Mohsen Naghavi, Deborah Carvalho Malta
INTRODUCTION: The aims of this study were to estimate all-cause and cause-specific mortality and years of life lost, investigated by disability-adjusted life-years (DALYs), due to colorectal cancer attributable to physical inactivity in Brazil and in the states; to analyze the temporal trend of these estimates over 25 years (1990-2015) compared with global estimates and according to the socioeconomic status of states of Brazil. METHODS: Databases from the Global Burden of Disease Study (GBD) for Brazil, Brazilian states and global information were used...
2018: PloS One
Mark Daly
No abstract text is available yet for this article.
February 1, 2018: Nature
Raivo Kolde, Eric A Franzosa, Gholamali Rahnavard, Andrew Brantley Hall, Hera Vlamakis, Christine Stevens, Mark J Daly, Ramnik J Xavier, Curtis Huttenhower
BACKGROUND: Despite the increasing recognition that microbial communities within the human body are linked to health, we have an incomplete understanding of the environmental and molecular interactions that shape the composition of these communities. Although host genetic factors play a role in these interactions, these factors have remained relatively unexplored given the requirement for large population-based cohorts in which both genotyping and microbiome characterization have been performed...
January 29, 2018: Genome Medicine
Reza Yaesoubi, Caroline Trotter, Caroline Colijn, Maziar Yaesoubi, Anaïs Colombini, Stephen Resch, Paul A Kristiansen, F Marc LaForce, Ted Cohen
BACKGROUND: The introduction of a conjugate vaccine for serogroup A Neisseria meningitidis has dramatically reduced disease in the African meningitis belt. In this context, important questions remain about the performance of different vaccine policies that target remaining serogroups. Here, we estimate the health impact and cost associated with several alternative vaccination policies in Burkina Faso. METHODS AND FINDINGS: We developed and calibrated a mathematical model of meningococcal transmission to project the disability-adjusted life years (DALYs) averted and costs associated with the current Base policy (serogroup A conjugate vaccination at 9 months, as part of the Expanded Program on Immunization [EPI], plus district-specific reactive vaccination campaigns using polyvalent meningococcal polysaccharide [PMP] vaccine in response to outbreaks) and three alternative policies: (1) Base Prime: novel polyvalent meningococcal conjugate (PMC) vaccine replaces the serogroup A conjugate in EPI and is also used in reactive campaigns; (2) Prevention 1: PMC used in EPI and in a nationwide catch-up campaign for 1-18-year-olds; and (3) Prevention 2: Prevention 1, except the nationwide campaign includes individuals up to 29 years old...
January 2018: PLoS Medicine
Zhennan Qiu, Shujing Kang, Lei He, Juan Zhao, Sen Zhang, Jiang Hu, Dali Zeng, Guangheng Zhang, Guojun Dong, Zhenyu Gao, Deyong Ren, Guang Chen, Longbiao Guo, Qian Qian, Li Zhu
High temperature, a major abiotic stress, significantly affects the yield and quality of crops in many parts of the world. Components of the photosynthetic apparatus are highly susceptible to thermal damage. Although the responses to acute heat stress have been studied intensively, the mechanisms that regulate chloroplast development under heat stress remain obscure, especially in crop plants. Here, we cloned and characterized the gene responsible for the heat-sensitive albino1 (hsa1) mutation in rice (Oryza sativa)...
February 2018: Plant Science: An International Journal of Experimental Plant Biology
Sita Bhella, Navneet S Majhail, Jeffrey Betcher, Luciano J Costa, Andrew Daly, Christopher E Dandoy, Zachariah DeFilipp, Vi Doan, Alison Gulbis, Lisa Hicks, Mark Juckett, Nandita Khera, Amrita Krishnan, George Selby, Nirav N Shah, Melisa Stricherz, Auro Viswabandya, Christopher Bredeson, Matthew D Seftel
Choosing Wisely encourages dialogue about reducing unnecessary procedures, tests, or treatments in healthcare. The American Society for Blood and Marrow Transplantation (ASBMT) and Canadian Blood and Marrow Transplant Group (CBMTG) established a Choosing Wisely BMT Task Force whose objective was to create a list of top five practices in blood and marrow transplantation to be questioned. The Task Force consisted of representatives from ASBMT's Quality Outcomes, Education, and Practice Guidelines Committees, ASBMT's Pharmacy Special Interest Group, CBMTG Program Directors, and Center for International Blood and Marrow Transplant Research (CIBMTR)...
January 19, 2018: Biology of Blood and Marrow Transplantation
Jason Flannick, Christian Fuchsberger, Anubha Mahajan, Tanya M Teslovich, Vineeta Agarwala, Kyle J Gaulton, Lizz Caulkins, Ryan Koesterer, Clement Ma, Loukas Moutsianas, Davis J McCarthy, Manuel A Rivas, John R B Perry, Xueling Sim, Thomas W Blackwell, Neil R Robertson, N William Rayner, Pablo Cingolani, Adam E Locke, Juan Fernandez Tajes, Heather M Highland, Josee Dupuis, Peter S Chines, Cecilia M Lindgren, Christopher Hartl, Anne U Jackson, Han Chen, Jeroen R Huyghe, Martijn van de Bunt, Richard D Pearson, Ashish Kumar, Martina Müller-Nurasyid, Niels Grarup, Heather M Stringham, Eric R Gamazon, Jaehoon Lee, Yuhui Chen, Robert A Scott, Jennifer E Below, Peng Chen, Jinyan Huang, Min Jin Go, Michael L Stitzel, Dorota Pasko, Stephen C J Parker, Tibor V Varga, Todd Green, Nicola L Beer, Aaron G Day-Williams, Teresa Ferreira, Tasha Fingerlin, Momoko Horikoshi, Cheng Hu, Iksoo Huh, Mohammad Kamran Ikram, Bong-Jo Kim, Yongkang Kim, Young Jin Kim, Min-Seok Kwon, Juyoung Lee, Selyeong Lee, Keng-Han Lin, Taylor J Maxwell, Yoshihiko Nagai, Xu Wang, Ryan P Welch, Joon Yoon, Weihua Zhang, Nir Barzilai, Benjamin F Voight, Bok-Ghee Han, Christopher P Jenkinson, Teemu Kuulasmaa, Johanna Kuusisto, Alisa Manning, Maggie C Y Ng, Nicholette D Palmer, Beverley Balkau, Alena Stančáková, Hanna E Abboud, Heiner Boeing, Vilmantas Giedraitis, Dorairaj Prabhakaran, Omri Gottesman, James Scott, Jason Carey, Phoenix Kwan, George Grant, Joshua D Smith, Benjamin M Neale, Shaun Purcell, Adam S Butterworth, Joanna M M Howson, Heung Man Lee, Yingchang Lu, Soo-Heon Kwak, Wei Zhao, John Danesh, Vincent K L Lam, Kyong Soo Park, Danish Saleheen, Wing Yee So, Claudia H T Tam, Uzma Afzal, David Aguilar, Rector Arya, Tin Aung, Edmund Chan, Carmen Navarro, Ching-Yu Cheng, Domenico Palli, Adolfo Correa, Joanne E Curran, Dennis Rybin, Vidya S Farook, Sharon P Fowler, Barry I Freedman, Michael Griswold, Daniel Esten Hale, Pamela J Hicks, Chiea-Chuen Khor, Satish Kumar, Benjamin Lehne, Dorothée Thuillier, Wei Yen Lim, Jianjun Liu, Marie Loh, Solomon K Musani, Sobha Puppala, William R Scott, Loïc Yengo, Sian-Tsung Tan, Herman A Taylor, Farook Thameem, Gregory Wilson, Tien Yin Wong, Pål Rasmus Njølstad, Jonathan C Levy, Massimo Mangino, Lori L Bonnycastle, Thomas Schwarzmayr, João Fadista, Gabriela L Surdulescu, Christian Herder, Christopher J Groves, Thomas Wieland, Jette Bork-Jensen, Ivan Brandslund, Cramer Christensen, Heikki A Koistinen, Alex S F Doney, Leena Kinnunen, Tõnu Esko, Andrew J Farmer, Liisa Hakaste, Dylan Hodgkiss, Jasmina Kravic, Valeri Lyssenko, Mette Hollensted, Marit E Jørgensen, Torben Jørgensen, Claes Ladenvall, Johanne Marie Justesen, Annemari Käräjämäki, Jennifer Kriebel, Wolfgang Rathmann, Lars Lannfelt, Torsten Lauritzen, Narisu Narisu, Allan Linneberg, Olle Melander, Lili Milani, Matt Neville, Marju Orho-Melander, Lu Qi, Qibin Qi, Michael Roden, Olov Rolandsson, Amy Swift, Anders H Rosengren, Kathleen Stirrups, Andrew R Wood, Evelin Mihailov, Christine Blancher, Mauricio O Carneiro, Jared Maguire, Ryan Poplin, Khalid Shakir, Timothy Fennell, Mark DePristo, Martin Hrabé de Angelis, Panos Deloukas, Anette P Gjesing, Goo Jun, Peter Nilsson, Jacquelyn Murphy, Robert Onofrio, Barbara Thorand, Torben Hansen, Christa Meisinger, Frank B Hu, Bo Isomaa, Fredrik Karpe, Liming Liang, Annette Peters, Cornelia Huth, Stephen P O'Rahilly, Colin N A Palmer, Oluf Pedersen, Rainer Rauramaa, Jaakko Tuomilehto, Veikko Salomaa, Richard M Watanabe, Ann-Christine Syvänen, Richard N Bergman, Dwaipayan Bharadwaj, Erwin P Bottinger, Yoon Shin Cho, Giriraj R Chandak, Juliana C N Chan, Kee Seng Chia, Mark J Daly, Shah B Ebrahim, Claudia Langenberg, Paul Elliott, Kathleen A Jablonski, Donna M Lehman, Weiping Jia, Ronald C W Ma, Toni I Pollin, Manjinder Sandhu, Nikhil Tandon, Philippe Froguel, Inês Barroso, Yik Ying Teo, Eleftheria Zeggini, Ruth J F Loos, Kerrin S Small, Janina S Ried, Ralph A DeFronzo, Harald Grallert, Benjamin Glaser, Andres Metspalu, Nicholas J Wareham, Mark Walker, Eric Banks, Christian Gieger, Erik Ingelsson, Hae Kyung Im, Thomas Illig, Paul W Franks, Gemma Buck, Joseph Trakalo, David Buck, Inga Prokopenko, Reedik Mägi, Lars Lind, Yossi Farjoun, Katharine R Owen, Anna L Gloyn, Konstantin Strauch, Tiinamaija Tuomi, Jaspal Singh Kooner, Jong-Young Lee, Taesung Park, Peter Donnelly, Andrew D Morris, Andrew T Hattersley, Donald W Bowden, Francis S Collins, Gil Atzmon, John C Chambers, Timothy D Spector, Markku Laakso, Tim M Strom, Graeme I Bell, John Blangero, Ravindranath Duggirala, E Shyong Tai, Gilean McVean, Craig L Hanis, James G Wilson, Mark Seielstad, Timothy M Frayling, James B Meigs, Nancy J Cox, Rob Sladek, Eric S Lander, Stacey Gabriel, Karen L Mohlke, Thomas Meitinger, Leif Groop, Goncalo Abecasis, Laura J Scott, Andrew P Morris, Hyun Min Kang, David Altshuler, Noël P Burtt, Jose C Florez, Michael Boehnke, Mark I McCarthy
This corrects the article DOI: 10.1038/sdata.2017.179.
January 23, 2018: Scientific Data
Patricia Estefania Aguirre, Melina Coelho, Thaís Oliveira, Daniela Rios, Agnes Fátima Cruvinel, Thiago Cruvinel
The diagnosis or suspicion of dental caries can lead people to seek additional information on the Internet through the use of structured queries in search engine tools. This action generates a considerable volume of data, which can be analyzed to provide a better understanding of the public's behavior linked to the consumption of oral health information. This study aimed to assess the volume and profile of web searches on dental caries-related queries performed by Google users from different countries. The monthly variation of the Search Volume Index (SVI) for dental caries was obtained in Google Trends for the period between January 2004 and September 2016...
January 20, 2018: Caries Research
Christopher S Bird, Ana Veríssimo, Sarah Magozzi, Kátya G Abrantes, Alex Aguilar, Hassan Al-Reasi, Adam Barnett, Dana M Bethea, Gérard Biais, Asuncion Borrell, Marc Bouchoucha, Mariah Boyle, Edward J Brooks, Juerg Brunnschweiler, Paco Bustamante, Aaron Carlisle, Diana Catarino, Stéphane Caut, Yves Cherel, Tiphaine Chouvelon, Diana Churchill, Javier Ciancio, Julien Claes, Ana Colaço, Dean L Courtney, Pierre Cresson, Ryan Daly, Leigh de Necker, Tetsuya Endo, Ivone Figueiredo, Ashley J Frisch, Joan Holst Hansen, Michael Heithaus, Nigel E Hussey, Johannes Iitembu, Francis Juanes, Michael J Kinney, Jeremy J Kiszka, Sebastian A Klarian, Dorothée Kopp, Robert Leaf, Yunkai Li, Anne Lorrain, Daniel J Madigan, Aleksandra Maljković, Luis Malpica-Cruz, Philip Matich, Mark G Meekan, Frédéric Ménard, Gui M Menezes, Samantha E M Munroe, Michael C Newman, Yannis P Papastamatiou, Heidi Pethybridge, Jeffrey D Plumlee, Carlos Polo-Silva, Katie Quaeck-Davies, Vincent Raoult, Jonathan Reum, Yassir Eden Torres-Rojas, David S Shiffman, Oliver N Shipley, Conrad W Speed, Michelle D Staudinger, Amy K Teffer, Alexander Tilley, Maria Valls, Jeremy J Vaudo, Tak-Cheung Wai, R J David Wells, Alex S J Wyatt, Andrew Yool, Clive N Trueman
Sharks are a diverse group of mobile predators that forage across varied spatial scales and have the potential to influence food web dynamics. The ecological consequences of recent declines in shark biomass may extend across broader geographic ranges if shark taxa display common behavioural traits. By tracking the original site of photosynthetic fixation of carbon atoms that were ultimately assimilated into muscle tissues of 5,394 sharks from 114 species, we identify globally consistent biogeographic traits in trophic interactions between sharks found in different habitats...
January 18, 2018: Nature Ecology & Evolution
Nathan Robbins, Mark Gilbert, Mohit Kumar, James W McNamara, Patrick Daly, Sheryl E Koch, Ginger Conway, Mohamed Effat, Jessica G Woo, Sakthivel Sadayappan, Jack Rubinstein
BACKGROUND: Transient receptor potential vanilloid 2 is a calcium channel activated by probenecid. Probenecid is a Food and Drug Administration-approved uricosuric drug that has recently been shown to induce positive lusitropic and inotropic effects in animal models through cardiomyocyte transient receptor potential vanilloid 2 activation. The aim of this study was to test the hypothesis that oral probenecid can improve cardiac function and symptomatology in patients with heart failure with reduced ejection fraction and to further elucidate its calcium-dependent effects on myocyte contractility...
January 13, 2018: Journal of the American Heart Association
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"