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Eric Lander

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https://www.readbyqxmd.com/read/28590340/colonic-phenotypes-are-associated-with-poorer-response-to-anti-tnf-therapies-in-patients-with-ibd
#1
Soon Man Yoon, Talin Haritunians, Sultan Chhina, Zhenqiu Liu, Shaohong Yang, Carol Landers, Dalin Li, Byong Duk Ye, David Shih, Eric A Vasiliauskas, Andrew Ippoliti, Shervin Rabizadeh, Stephan R Targan, Gil Y Melmed, Dermot P B McGovern
BACKGROUND: Although anti-tumor necrosis factor (TNF) agents are effective in patients with inflammatory bowel disease (IBD), many patients either do not respond to anti-TNF treatment or lose response over time. The aim of this study was to determine factors associated with response to anti-TNF therapy in IBD. METHODS: Patients with Crohn's disease (CD) or ulcerative colitis who had consented to participate in a genetics registry and been treated with anti-TNF agents were evaluated retrospectively and categorized as primary nonresponders or secondary nonresponders...
June 5, 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28506971/protein-truncating-variants-at-the-cholesteryl-ester-transfer-protein-gene-and-risk-for-coronary-heart-disease
#2
Akihiro Nomura, Hong-Hee Won, Amit V Khera, Fumihiko Takeuchi, Kaoru Ito, Shane McCarthy, Connor A Emdin, Derek Klarin, Pradeep Natarajan, Seyedeh M Zekavat, Namrata Gupta, Gina M Peloso, Ingrid B Borecki, Tanya M Teslovich, Rosanna Asselta, Stefano Duga, Piera A Merlini, Adolfo Correa, Thorsten Kessler, James G Wilson, Matthew J Bown, Alistair S Hall, Peter S Braund, David J Carey, Michael F Murray, H L Kirchner, Joseph B Leader, Daniel R Lavage, J N Manus, Dustin N Hartzel, Nilesh J Samani, Heribert Schunkert, Jaume Marrugat, Roberto Elosua, Ruth McPherson, Martin Farrall, Hugh Watkins, Jyh-Ming Jimmy Juang, Chao A Hsiung, Shih-Yi Lin, Jun-Sing Wang, Hayato Tada, Masa-Aki Kawashiri, Akihiro Inazu, Masakazu Yamagishi, Tomohiro Katsuya, Eitaro Nakashima, Masahiro Nakatochi, Ken Yamamoto, Mitsuhiro Yokota, Yukihide Momozawa, Jerome I Rotter, Eric S Lander, Daniel J Rader, John N Danesh, Diego Ardissino, Stacey B Gabriel, Cristen J Willer, Gonçalo Abecasis, Danish Saleheen, Michiaki Kubo, Norihiro Kato, Yii-Der I Chen, Frederick Dewey, Sekar Kathiresan
Rationale: Therapies which inhibit cholesteryl ester transfer protein (CETP) have failed to demonstrate a reduction in risk for coronary heart disease (CHD). Human deoxyribonucleic acid sequence variants that truncate the CETP gene may provide insight into the efficacy of CETP inhibition. Objective: To test whether protein truncating variants (PTVs) at the CETP gene were associated with plasma lipid levels and CHD. Methods and Results: We sequenced the exons of the CETP gene in 58,469 participants from 12 case-control studies (18,817 CHD cases, 39,652 CHD-free controls)...
May 15, 2017: Circulation Research
https://www.readbyqxmd.com/read/28461555/cell-scientist-to-watch-mitchell-guttman
#3
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Mitchell received a bachelor's degree in molecular and computational biology and a master's degree in computational biology and bioinformatics from the University of Pennsylvania. He then joined the laboratory of Eric Lander at the Broad Institute of MIT and Harvard and was awarded his PhD in 2012. The same year he was named in the Forbes '30 under 30: science and healthcare' list of rising stars and received an NIH early independence award. Mitchell subsequently moved to the California Institute of Technology as an Assistant Professor to establish his own laboratory...
May 1, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28406212/human-knockouts-and-phenotypic-analysis-in-a-cohort-with-a-high-rate-of-consanguinity
#4
Danish Saleheen, Pradeep Natarajan, Irina M Armean, Wei Zhao, Asif Rasheed, Sumeet A Khetarpal, Hong-Hee Won, Konrad J Karczewski, Anne H O'Donnell-Luria, Kaitlin E Samocha, Benjamin Weisburd, Namrata Gupta, Mozzam Zaidi, Maria Samuel, Atif Imran, Shahid Abbas, Faisal Majeed, Madiha Ishaq, Saba Akhtar, Kevin Trindade, Megan Mucksavage, Nadeem Qamar, Khan Shah Zaman, Zia Yaqoob, Tahir Saghir, Syed Nadeem Hasan Rizvi, Anis Memon, Nadeem Hayyat Mallick, Mohammad Ishaq, Syed Zahed Rasheed, Fazal-Ur-Rehman Memon, Khalid Mahmood, Naveeduddin Ahmed, Ron Do, Ronald M Krauss, Daniel G MacArthur, Stacey Gabriel, Eric S Lander, Mark J Daly, Philippe Frossard, John Danesh, Daniel J Rader, Sekar Kathiresan
A major goal of biomedicine is to understand the function of every gene in the human genome. Loss-of-function mutations can disrupt both copies of a given gene in humans and phenotypic analysis of such 'human knockouts' can provide insight into gene function. Consanguineous unions are more likely to result in offspring carrying homozygous loss-of-function mutations. In Pakistan, consanguinity rates are notably high. Here we sequence the protein-coding regions of 10,503 adult participants in the Pakistan Risk of Myocardial Infarction Study (PROMIS), designed to understand the determinants of cardiometabolic diseases in individuals from South Asia...
April 12, 2017: Nature
https://www.readbyqxmd.com/read/28401899/improved-imputation-accuracy-of-rare-and-low-frequency-variants-using-population-specific-high-coverage-wgs-based-imputation-reference-panel
#5
Mario Mitt, Mart Kals, Kalle Pärn, Stacey B Gabriel, Eric S Lander, Aarno Palotie, Samuli Ripatti, Andrew P Morris, Andres Metspalu, Tõnu Esko, Reedik Mägi, Priit Palta
Genetic imputation is a cost-efficient way to improve the power and resolution of genome-wide association (GWA) studies. Current publicly accessible imputation reference panels accurately predict genotypes for common variants with minor allele frequency (MAF)≥5% and low-frequency variants (0.5≤MAF<5%) across diverse populations, but the imputation of rare variation (MAF<0.5%) is still rather limited. In the current study, we evaluate imputation accuracy achieved with reference panels from diverse populations with a population-specific high-coverage (30 ×) whole-genome sequencing (WGS) based reference panel, comprising of 2244 Estonian individuals (0...
June 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28385496/angptl3-deficiency-and-protection-against-coronary-artery-disease
#6
Nathan O Stitziel, Amit V Khera, Xiao Wang, Andrew J Bierhals, A Christina Vourakis, Alexandra E Sperry, Pradeep Natarajan, Derek Klarin, Connor A Emdin, Seyedeh M Zekavat, Akihiro Nomura, Jeanette Erdmann, Heribert Schunkert, Nilesh J Samani, William E Kraus, Svati H Shah, Bing Yu, Eric Boerwinkle, Daniel J Rader, Namrata Gupta, Philippe M Frossard, Asif Rasheed, John Danesh, Eric S Lander, Stacey Gabriel, Danish Saleheen, Kiran Musunuru, Sekar Kathiresan
BACKGROUND: Familial combined hypolipidemia, a Mendelian condition characterized by substantial reductions in all 3 major lipid fractions, is caused by mutations that inactivate the gene angiopoietin-like 3 (ANGPTL3). Whether ANGPTL3 deficiency reduces risk of coronary artery disease (CAD) is unknown. OBJECTIVES: The study goal was to leverage 3 distinct lines of evidence-a family that included individuals with complete (compound heterozygote) ANGPTL3 deficiency, a population based-study of humans with partial (heterozygote) ANGPTL3 deficiency, and biomarker levels in patients with myocardial infarction (MI)-to test whether ANGPTL3 deficiency is associated with lower risk for CAD...
April 25, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28336562/de-novo-assembly-of-the-aedes-aegypti-genome-using-hi-c-yields-chromosome-length-scaffolds
#7
Olga Dudchenko, Sanjit S Batra, Arina D Omer, Sarah K Nyquist, Marie Hoeger, Neva C Durand, Muhammad S Shamim, Ido Machol, Eric S Lander, Aviva Presser Aiden, Erez Lieberman Aiden
The Zika outbreak, spread by the Aedes aegypti mosquito, highlights the need to create high-quality assemblies of large genomes in a rapid and cost-effective way. Here we combine Hi-C data with existing draft assemblies to generate chromosome-length scaffolds. We validate this method by assembling a human genome, de novo, from short reads alone (67× coverage). We then combine our method with draft sequences to create genome assemblies of the mosquito disease vectors Aeaegypti and Culex quinquefasciatus, each consisting of three scaffolds corresponding to the three chromosomes in each species...
April 7, 2017: Science
https://www.readbyqxmd.com/read/28283061/functional-selectivity-in-cytokine-signaling-revealed-through-a-pathogenic-epo-mutation
#8
Ah Ram Kim, Jacob C Ulirsch, Stephan Wilmes, Ekrem Unal, Ignacio Moraga, Musa Karakukcu, Daniel Yuan, Shideh Kazerounian, Nour J Abdulhay, David S King, Namrata Gupta, Stacey B Gabriel, Eric S Lander, Turkan Patiroglu, Alper Ozcan, Mehmet Akif Ozdemir, K Christopher Garcia, Jacob Piehler, Hanna T Gazda, Daryl E Klein, Vijay G Sankaran
Cytokines are classically thought to stimulate downstream signaling pathways through monotonic activation of receptors. We describe a severe anemia resulting from a homozygous mutation (R150Q) in the cytokine erythropoietin (EPO). Surprisingly, the EPO R150Q mutant shows only a mild reduction in affinity for its receptor but has altered binding kinetics. The EPO mutant is less effective at stimulating erythroid cell proliferation and differentiation, even at maximally potent concentrations. While the EPO mutant can stimulate effectors such as STAT5 to a similar extent as the wild-type ligand, there is reduced JAK2-mediated phosphorylation of select downstream targets...
March 9, 2017: Cell
https://www.readbyqxmd.com/read/28267856/association-of-rare-and-common-variation-in-the-lipoprotein-lipase-gene-with-coronary-artery-disease
#9
Amit V Khera, Hong-Hee Won, Gina M Peloso, Colm O'Dushlaine, Dajiang Liu, Nathan O Stitziel, Pradeep Natarajan, Akihiro Nomura, Connor A Emdin, Namrata Gupta, Ingrid B Borecki, Rosanna Asselta, Stefano Duga, Piera Angelica Merlini, Adolfo Correa, Thorsten Kessler, James G Wilson, Matthew J Bown, Alistair S Hall, Peter S Braund, David J Carey, Michael F Murray, H Lester Kirchner, Joseph B Leader, Daniel R Lavage, J Neil Manus, Dustin N Hartzel, Nilesh J Samani, Heribert Schunkert, Jaume Marrugat, Roberto Elosua, Ruth McPherson, Martin Farrall, Hugh Watkins, Eric S Lander, Daniel J Rader, John Danesh, Diego Ardissino, Stacey Gabriel, Cristen Willer, Gonçalo R Abecasis, Danish Saleheen, Frederick E Dewey, Sekar Kathiresan
Importance: The activity of lipoprotein lipase (LPL) is the rate-determining step in clearing triglyceride-rich lipoproteins from the circulation. Mutations that damage the LPL gene (LPL) lead to lifelong deficiency in enzymatic activity and can provide insight into the relationship of LPL to human disease. Objective: To determine whether rare and/or common variants in LPL are associated with early-onset coronary artery disease (CAD). Design, Setting, and Participants: In a cross-sectional study, LPL was sequenced in 10 CAD case-control cohorts of the multinational Myocardial Infarction Genetics Consortium and a nested CAD case-control cohort of the Geisinger Health System DiscovEHR cohort between 2010 and 2015...
March 7, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28162770/gene-essentiality-profiling-reveals-gene-networks-and-synthetic-lethal-interactions-with-oncogenic-ras
#10
Tim Wang, Haiyan Yu, Nicholas W Hughes, Bingxu Liu, Arek Kendirli, Klara Klein, Walter W Chen, Eric S Lander, David M Sabatini
The genetic dependencies of human cancers widely vary. Here, we catalog this heterogeneity and use it to identify functional gene interactions and genotype-dependent liabilities in cancer. By using genome-wide CRISPR-based screens, we generate a gene essentiality dataset across 14 human acute myeloid leukemia (AML) cell lines. Sets of genes with correlated patterns of essentiality across the lines reveal new gene relationships, the essential substrates of enzymes, and the molecular functions of uncharacterized proteins...
February 23, 2017: Cell
https://www.readbyqxmd.com/read/28137873/systematic-dissection-of-genomic-features-determining-transcription-factor-binding-and-enhancer-function
#11
Sharon R Grossman, Xiaolan Zhang, Li Wang, Jesse Engreitz, Alexandre Melnikov, Peter Rogov, Ryan Tewhey, Alina Isakova, Bart Deplancke, Bradley E Bernstein, Tarjei S Mikkelsen, Eric S Lander
Enhancers regulate gene expression through the binding of sequence-specific transcription factors (TFs) to cognate motifs. Various features influence TF binding and enhancer function-including the chromatin state of the genomic locus, the affinities of the binding site, the activity of the bound TFs, and interactions among TFs. However, the precise nature and relative contributions of these features remain unclear. Here, we used massively parallel reporter assays (MPRAs) involving 32,115 natural and synthetic enhancers, together with high-throughput in vivo binding assays, to systematically dissect the contribution of each of these features to the binding and activity of genomic regulatory elements that contain motifs for PPARγ, a TF that serves as a key regulator of adipogenesis...
February 14, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28070282/the-database-of-the-predicts-projecting-responses-of-ecological-diversity-in-changing-terrestrial-systems-project
#12
Lawrence N Hudson, Tim Newbold, Sara Contu, Samantha L L Hill, Igor Lysenko, Adriana De Palma, Helen R P Phillips, Tamera I Alhusseini, Felicity E Bedford, Dominic J Bennett, Hollie Booth, Victoria J Burton, Charlotte W T Chng, Argyrios Choimes, David L P Correia, Julie Day, Susy Echeverría-Londoño, Susan R Emerson, Di Gao, Morgan Garon, Michelle L K Harrison, Daniel J Ingram, Martin Jung, Victoria Kemp, Lucinda Kirkpatrick, Callum D Martin, Yuan Pan, Gwilym D Pask-Hale, Edwin L Pynegar, Alexandra N Robinson, Katia Sanchez-Ortiz, Rebecca A Senior, Benno I Simmons, Hannah J White, Hanbin Zhang, Job Aben, Stefan Abrahamczyk, Gilbert B Adum, Virginia Aguilar-Barquero, Marcelo A Aizen, Belén Albertos, E L Alcala, Maria Del Mar Alguacil, Audrey Alignier, Marc Ancrenaz, Alan N Andersen, Enrique Arbeláez-Cortés, Inge Armbrecht, Víctor Arroyo-Rodríguez, Tom Aumann, Jan C Axmacher, Badrul Azhar, Adrián B Azpiroz, Lander Baeten, Adama Bakayoko, András Báldi, John E Banks, Sharad K Baral, Jos Barlow, Barbara I P Barratt, Lurdes Barrico, Paola Bartolommei, Diane M Barton, Yves Basset, Péter Batáry, Adam J Bates, Bruno Baur, Erin M Bayne, Pedro Beja, Suzan Benedick, Åke Berg, Henry Bernard, Nicholas J Berry, Dinesh Bhatt, Jake E Bicknell, Jochen H Bihn, Robin J Blake, Kadiri S Bobo, Roberto Bóçon, Teun Boekhout, Katrin Böhning-Gaese, Kevin J Bonham, Paulo A V Borges, Sérgio H Borges, Céline Boutin, Jérémy Bouyer, Cibele Bragagnolo, Jodi S Brandt, Francis Q Brearley, Isabel Brito, Vicenç Bros, Jörg Brunet, Grzegorz Buczkowski, Christopher M Buddle, Rob Bugter, Erika Buscardo, Jörn Buse, Jimmy Cabra-García, Nilton C Cáceres, Nicolette L Cagle, María Calviño-Cancela, Sydney A Cameron, Eliana M Cancello, Rut Caparrós, Pedro Cardoso, Dan Carpenter, Tiago F Carrijo, Anelena L Carvalho, Camila R Cassano, Helena Castro, Alejandro A Castro-Luna, Cerda B Rolando, Alexis Cerezo, Kim Alan Chapman, Matthieu Chauvat, Morten Christensen, Francis M Clarke, Daniel F R Cleary, Giorgio Colombo, Stuart P Connop, Michael D Craig, Leopoldo Cruz-López, Saul A Cunningham, Biagio D'Aniello, Neil D'Cruze, Pedro Giovâni da Silva, Martin Dallimer, Emmanuel Danquah, Ben Darvill, Jens Dauber, Adrian L V Davis, Jeff Dawson, Claudio de Sassi, Benoit de Thoisy, Olivier Deheuvels, Alain Dejean, Jean-Louis Devineau, Tim Diekötter, Jignasu V Dolia, Erwin Domínguez, Yamileth Dominguez-Haydar, Silvia Dorn, Isabel Draper, Niels Dreber, Bertrand Dumont, Simon G Dures, Mats Dynesius, Lars Edenius, Paul Eggleton, Felix Eigenbrod, Zoltán Elek, Martin H Entling, Karen J Esler, Ricardo F de Lima, Aisyah Faruk, Nina Farwig, Tom M Fayle, Antonio Felicioli, Annika M Felton, Roderick J Fensham, Ignacio C Fernandez, Catarina C Ferreira, Gentile F Ficetola, Cristina Fiera, Bruno K C Filgueiras, Hüseyin K Fırıncıoğlu, David Flaspohler, Andreas Floren, Steven J Fonte, Anne Fournier, Robert E Fowler, Markus Franzén, Lauchlan H Fraser, Gabriella M Fredriksson, Geraldo B Freire, Tiago L M Frizzo, Daisuke Fukuda, Dario Furlani, René Gaigher, Jörg U Ganzhorn, Karla P García, Juan C Garcia-R, Jenni G Garden, Ricardo Garilleti, Bao-Ming Ge, Benoit Gendreau-Berthiaume, Philippa J Gerard, Carla Gheler-Costa, Benjamin Gilbert, Paolo Giordani, Simonetta Giordano, Carly Golodets, Laurens G L Gomes, Rachelle K Gould, Dave Goulson, Aaron D Gove, Laurent Granjon, Ingo Grass, Claudia L Gray, James Grogan, Weibin Gu, Moisès Guardiola, Nihara R Gunawardene, Alvaro G Gutierrez, Doris L Gutiérrez-Lamus, Daniela H Haarmeyer, Mick E Hanley, Thor Hanson, Nor R Hashim, Shombe N Hassan, Richard G Hatfield, Joseph E Hawes, Matt W Hayward, Christian Hébert, Alvin J Helden, John-André Henden, Philipp Henschel, Lionel Hernández, James P Herrera, Farina Herrmann, Felix Herzog, Diego Higuera-Diaz, Branko Hilje, Hubert Höfer, Anke Hoffmann, Finbarr G Horgan, Elisabeth Hornung, Roland Horváth, Kristoffer Hylander, Paola Isaacs-Cubides, Hiroaki Ishida, Masahiro Ishitani, Carmen T Jacobs, Víctor J Jaramillo, Birgit Jauker, F Jiménez Hernández, McKenzie F Johnson, Virat Jolli, Mats Jonsell, S Nur Juliani, Thomas S Jung, Vena Kapoor, Heike Kappes, Vassiliki Kati, Eric Katovai, Klaus Kellner, Michael Kessler, Kathryn R Kirby, Andrew M Kittle, Mairi E Knight, Eva Knop, Florian Kohler, Matti Koivula, Annette Kolb, Mouhamadou Kone, Ádám Kőrösi, Jochen Krauss, Ajith Kumar, Raman Kumar, David J Kurz, Alex S Kutt, Thibault Lachat, Victoria Lantschner, Francisco Lara, Jesse R Lasky, Steven C Latta, William F Laurance, Patrick Lavelle, Violette Le Féon, Gretchen LeBuhn, Jean-Philippe Légaré, Valérie Lehouck, María V Lencinas, Pia E Lentini, Susan G Letcher, Qi Li, Simon A Litchwark, Nick A Littlewood, Yunhui Liu, Nancy Lo-Man-Hung, Carlos A López-Quintero, Mounir Louhaichi, Gabor L Lövei, Manuel Esteban Lucas-Borja, Victor H Luja, Matthew S Luskin, M Cristina MacSwiney G, Kaoru Maeto, Tibor Magura, Neil Aldrin Mallari, Louise A Malone, Patrick K Malonza, Jagoba Malumbres-Olarte, Salvador Mandujano, Inger E Måren, Erika Marin-Spiotta, Charles J Marsh, E J P Marshall, Eliana Martínez, Guillermo Martínez Pastur, David Moreno Mateos, Margaret M Mayfield, Vicente Mazimpaka, Jennifer L McCarthy, Kyle P McCarthy, Quinn S McFrederick, Sean McNamara, Nagore G Medina, Rafael Medina, Jose L Mena, Estefania Mico, Grzegorz Mikusinski, Jeffrey C Milder, James R Miller, Daniel R Miranda-Esquivel, Melinda L Moir, Carolina L Morales, Mary N Muchane, Muchai Muchane, Sonja Mudri-Stojnic, A Nur Munira, Antonio Muoñz-Alonso, B F Munyekenye, Robin Naidoo, A Naithani, Michiko Nakagawa, Akihiro Nakamura, Yoshihiro Nakashima, Shoji Naoe, Guiomar Nates-Parra, Dario A Navarrete Gutierrez, Luis Navarro-Iriarte, Paul K Ndang'ang'a, Eike L Neuschulz, Jacqueline T Ngai, Violaine Nicolas, Sven G Nilsson, Norbertas Noreika, Olivia Norfolk, Jorge Ari Noriega, David A Norton, Nicole M Nöske, A Justin Nowakowski, Catherine Numa, Niall O'Dea, Patrick J O'Farrell, William Oduro, Sabine Oertli, Caleb Ofori-Boateng, Christopher Omamoke Oke, Vicencio Oostra, Lynne M Osgathorpe, Samuel Eduardo Otavo, Navendu V Page, Juan Paritsis, Alejandro Parra-H, Luke Parry, Guy Pe'er, Peter B Pearman, Nicolás Pelegrin, Raphaël Pélissier, Carlos A Peres, Pablo L Peri, Anna S Persson, Theodora Petanidou, Marcell K Peters, Rohan S Pethiyagoda, Ben Phalan, T Keith Philips, Finn C Pillsbury, Jimmy Pincheira-Ulbrich, Eduardo Pineda, Joan Pino, Jaime Pizarro-Araya, A J Plumptre, Santiago L Poggio, Natalia Politi, Pere Pons, Katja Poveda, Eileen F Power, Steven J Presley, Vânia Proença, Marino Quaranta, Carolina Quintero, Romina Rader, B R Ramesh, Martha P Ramirez-Pinilla, Jai Ranganathan, Claus Rasmussen, Nicola A Redpath-Downing, J Leighton Reid, Yana T Reis, José M Rey Benayas, Juan Carlos Rey-Velasco, Chevonne Reynolds, Danilo Bandini Ribeiro, Miriam H Richards, Barbara A Richardson, Michael J Richardson, Rodrigo Macip Ríos, Richard Robinson, Carolina A Robles, Jörg Römbke, Luz Piedad Romero-Duque, Matthias Rös, Loreta Rosselli, Stephen J Rossiter, Dana S Roth, T'ai H Roulston, Laurent Rousseau, André V Rubio, Jean-Claude Ruel, Jonathan P Sadler, Szabolcs Sáfián, Romeo A Saldaña-Vázquez, Katerina Sam, Ulrika Samnegård, Joana Santana, Xavier Santos, Jade Savage, Nancy A Schellhorn, Menno Schilthuizen, Ute Schmiedel, Christine B Schmitt, Nicole L Schon, Christof Schüepp, Katharina Schumann, Oliver Schweiger, Dawn M Scott, Kenneth A Scott, Jodi L Sedlock, Steven S Seefeldt, Ghazala Shahabuddin, Graeme Shannon, Douglas Sheil, Frederick H Sheldon, Eyal Shochat, Stefan J Siebert, Fernando A B Silva, Javier A Simonetti, Eleanor M Slade, Jo Smith, Allan H Smith-Pardo, Navjot S Sodhi, Eduardo J Somarriba, Ramón A Sosa, Grimaldo Soto Quiroga, Martin-Hugues St-Laurent, Brian M Starzomski, Constanti Stefanescu, Ingolf Steffan-Dewenter, Philip C Stouffer, Jane C Stout, Ayron M Strauch, Matthew J Struebig, Zhimin Su, Marcela Suarez-Rubio, Shinji Sugiura, Keith S Summerville, Yik-Hei Sung, Hari Sutrisno, Jens-Christian Svenning, Tiit Teder, Caragh G Threlfall, Anu Tiitsaar, Jacqui H Todd, Rebecca K Tonietto, Ignasi Torre, Béla Tóthmérész, Teja Tscharntke, Edgar C Turner, Jason M Tylianakis, Marcio Uehara-Prado, Nicolas Urbina-Cardona, Denis Vallan, Adam J Vanbergen, Heraldo L Vasconcelos, Kiril Vassilev, Hans A F Verboven, Maria João Verdasca, José R Verdú, Carlos H Vergara, Pablo M Vergara, Jort Verhulst, Massimiliano Virgilio, Lien Van Vu, Edward M Waite, Tony R Walker, Hua-Feng Wang, Yanping Wang, James I Watling, Britta Weller, Konstans Wells, Catrin Westphal, Edward D Wiafe, Christopher D Williams, Michael R Willig, John C Z Woinarski, Jan H D Wolf, Volkmar Wolters, Ben A Woodcock, Jihua Wu, Joseph M Wunderle, Yuichi Yamaura, Satoko Yoshikura, Douglas W Yu, Andrey S Zaitsev, Juliane Zeidler, Fasheng Zou, Ben Collen, Rob M Ewers, Georgina M Mace, Drew W Purves, Jörn P W Scharlemann, Andy Purvis
The PREDICTS project-Projecting Responses of Ecological Diversity In Changing Terrestrial Systems (www.predicts.org.uk)-has collated from published studies a large, reasonably representative database of comparable samples of biodiversity from multiple sites that differ in the nature or intensity of human impacts relating to land use. We have used this evidence base to develop global and regional statistical models of how local biodiversity responds to these measures. We describe and make freely available this 2016 release of the database, containing more than 3...
January 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/28031487/comprehensive-population-based-genome-sequencing-provides-insight-into-hematopoietic-regulatory-mechanisms
#13
Michael H Guo, Satish K Nandakumar, Jacob C Ulirsch, Seyedeh M Zekavat, Jason D Buenrostro, Pradeep Natarajan, Rany M Salem, Roberto Chiarle, Mario Mitt, Mart Kals, Kalle Pärn, Krista Fischer, Lili Milani, Reedik Mägi, Priit Palta, Stacey B Gabriel, Andres Metspalu, Eric S Lander, Sekar Kathiresan, Joel N Hirschhorn, Tõnu Esko, Vijay G Sankaran
Genetic variants affecting hematopoiesis can influence commonly measured blood cell traits. To identify factors that affect hematopoiesis, we performed association studies for blood cell traits in the population-based Estonian Biobank using high-coverage whole-genome sequencing (WGS) in 2,284 samples and SNP genotyping in an additional 14,904 samples. Using up to 7,134 samples with available phenotype data, our analyses identified 17 associations across 14 blood cell traits. Integration of WGS-based fine-mapping and complementary epigenomic datasets provided evidence for causal mechanisms at several loci, including at a previously undiscovered basophil count-associated locus near the master hematopoietic transcription factor CEBPA The fine-mapped variant at this basophil count association near CEBPA overlapped an enhancer active in common myeloid progenitors and influenced its activity...
January 17, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28007139/phenotypic-characterization-of-genetically%C3%A2-lowered-human-lipoprotein-a-levels
#14
Connor A Emdin, Amit V Khera, Pradeep Natarajan, Derek Klarin, Hong-Hee Won, Gina M Peloso, Nathan O Stitziel, Akihiro Nomura, Seyedeh M Zekavat, Alexander G Bick, Namrata Gupta, Rosanna Asselta, Stefano Duga, Piera Angelica Merlini, Adolfo Correa, Thorsten Kessler, James G Wilson, Matthew J Bown, Alistair S Hall, Peter S Braund, Nilesh J Samani, Heribert Schunkert, Jaume Marrugat, Roberto Elosua, Ruth McPherson, Martin Farrall, Hugh Watkins, Cristen Willer, Gonçalo R Abecasis, Janine F Felix, Ramachandran S Vasan, Eric Lander, Daniel J Rader, John Danesh, Diego Ardissino, Stacey Gabriel, Danish Saleheen, Sekar Kathiresan
BACKGROUND: Genomic analyses have suggested that the LPA gene and its associated plasma biomarker, lipoprotein(a) (Lp[a]), represent a causal risk factor for coronary heart disease (CHD). As such, lowering Lp(a) levels has emerged as a therapeutic strategy. Beyond target identification, human genetics may contribute to the development of new therapies by defining the full spectrum of beneficial and adverse consequences and by developing a dose-response curve of target perturbation. OBJECTIVES: The goal of this study was to establish the full phenotypic impact of LPA gene variation and to estimate a dose-response curve between genetically altered plasma Lp(a) and risk for CHD...
December 27, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27992415/a-genome-wide-crispr-screen-identifies-a-restricted-set-of-hiv-host-dependency-factors
#15
Ryan J Park, Tim Wang, Dylan Koundakjian, Judd F Hultquist, Pedro Lamothe-Molina, Blandine Monel, Kathrin Schumann, Haiyan Yu, Kevin M Krupzcak, Wilfredo Garcia-Beltran, Alicja Piechocka-Trocha, Nevan J Krogan, Alexander Marson, David M Sabatini, Eric S Lander, Nir Hacohen, Bruce D Walker
Host proteins are essential for HIV entry and replication and can be important nonviral therapeutic targets. Large-scale RNA interference (RNAi)-based screens have identified nearly a thousand candidate host factors, but there is little agreement among studies and few factors have been validated. Here we demonstrate that a genome-wide CRISPR-based screen identifies host factors in a physiologically relevant cell system. We identify five factors, including the HIV co-receptors CD4 and CCR5, that are required for HIV infection yet are dispensable for cellular proliferation and viability...
February 2017: Nature Genetics
https://www.readbyqxmd.com/read/27984732/perturb-seq-dissecting-molecular-circuits-with-scalable-single-cell-rna-profiling-of-pooled-genetic-screens
#16
Atray Dixit, Oren Parnas, Biyu Li, Jenny Chen, Charles P Fulco, Livnat Jerby-Arnon, Nemanja D Marjanovic, Danielle Dionne, Tyler Burks, Raktima Raychowdhury, Britt Adamson, Thomas M Norman, Eric S Lander, Jonathan S Weissman, Nir Friedman, Aviv Regev
Genetic screens help infer gene function in mammalian cells, but it has remained difficult to assay complex phenotypes-such as transcriptional profiles-at scale. Here, we develop Perturb-seq, combining single-cell RNA sequencing (RNA-seq) and clustered regularly interspaced short palindromic repeats (CRISPR)-based perturbations to perform many such assays in a pool. We demonstrate Perturb-seq by analyzing 200,000 cells in immune cells and cell lines, focusing on transcription factors regulating the response of dendritic cells to lipopolysaccharide (LPS)...
December 15, 2016: Cell
https://www.readbyqxmd.com/read/27851748/chromosomal-instability-estimation-based-on-next-generation-sequencing-and-single-cell-genome-wide-copy-number-variation-analysis
#17
Stephanie B Greene, Angel E Dago, Laura J Leitz, Yipeng Wang, Jerry Lee, Shannon L Werner, Steven Gendreau, Premal Patel, Shidong Jia, Liangxuan Zhang, Eric K Tucker, Michael Malchiodi, Ryon P Graf, Ryan Dittamore, Dena Marrinucci, Mark Landers
Genomic instability is a hallmark of cancer often associated with poor patient outcome and resistance to targeted therapy. Assessment of genomic instability in bulk tumor or biopsy can be complicated due to sample availability, surrounding tissue contamination, or tumor heterogeneity. The Epic Sciences circulating tumor cell (CTC) platform utilizes a non-enrichment based approach for the detection and characterization of rare tumor cells in clinical blood samples. Genomic profiling of individual CTCs could provide a portrait of cancer heterogeneity, identify clonal and sub-clonal drivers, and monitor disease progression...
2016: PloS One
https://www.readbyqxmd.com/read/27783602/local-regulation-of-gene-expression-by-lncrna-promoters-transcription-and-splicing
#18
Jesse M Engreitz, Jenna E Haines, Elizabeth M Perez, Glen Munson, Jenny Chen, Michael Kane, Patrick E McDonel, Mitchell Guttman, Eric S Lander
Mammalian genomes are pervasively transcribed to produce thousands of long non-coding RNAs (lncRNAs). A few of these lncRNAs have been shown to recruit regulatory complexes through RNA-protein interactions to influence the expression of nearby genes, and it has been suggested that many other lncRNAs can also act as local regulators. Such local functions could explain the observation that lncRNA expression is often correlated with the expression of nearby genes. However, these correlations have been challenging to dissect and could alternatively result from processes that are not mediated by the lncRNA transcripts themselves...
November 17, 2016: Nature
https://www.readbyqxmd.com/read/27774369/perchlorate-formation-on-mars-through-surface-radiolysis-initiated-atmospheric-chemistry-a-potential-mechanism
#19
Eric H Wilson, Sushil K Atreya, Ralf I Kaiser, Paul R Mahaffy
Recent observations of the Martian surface by the Phoenix lander and the Sample Analysis at Mars indicate the presence of perchlorate (ClO4(-)). The abundance and isotopic composition of these perchlorates suggest that the mechanisms responsible for their formation in the Martian environment may be unique in our solar system. With this in mind, we propose a potential mechanism for the production of Martian perchlorate: the radiolysis of the Martian surface by galactic cosmic rays, followed by the sublimation of chlorine oxides into the atmosphere and their subsequent synthesis to form perchloric acid (HClO4) in the atmosphere, and the surface deposition and subsequent mineralization of HClO4 in the regolith to form surface perchlorates...
August 2016: Journal of Geophysical Research. Planets
https://www.readbyqxmd.com/read/27760322/genomic-correlates-of-immune-cell-infiltrates-in-colorectal-carcinoma
#20
Marios Giannakis, Xinmeng Jasmine Mu, Sachet A Shukla, Zhi Rong Qian, Ofir Cohen, Reiko Nishihara, Samira Bahl, Yin Cao, Ali Amin-Mansour, Mai Yamauchi, Yasutaka Sukawa, Chip Stewart, Mara Rosenberg, Kosuke Mima, Kentaro Inamura, Katsuhiko Nosho, Jonathan A Nowak, Michael S Lawrence, Edward L Giovannucci, Andrew T Chan, Kimmie Ng, Jeffrey A Meyerhardt, Eliezer M Van Allen, Gad Getz, Stacey B Gabriel, Eric S Lander, Catherine J Wu, Charles S Fuchs, Shuji Ogino, Levi A Garraway
No abstract text is available yet for this article.
October 18, 2016: Cell Reports
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