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https://www.readbyqxmd.com/read/28077804/the-complex-genetics-of-gait-speed-genome-wide-meta-analysis-approach
#1
Dan Ben-Avraham, David Karasik, Joe Verghese, Kathryn L Lunetta, Jennifer A Smith, John A Eicher, Rotem Vered, Joris Deelen, Alice M Arnold, Aron S Buchman, Toshiko Tanaka, Jessica D Faul, Maria Nethander, Myriam Fornage, Hieab H Adams, Amy M Matteini, Michele L Callisaya, Albert V Smith, Lei Yu, Philip L De Jager, Denis A Evans, Vilmundur Gudnason, Albert Hofman, Alison Pattie, Janie Corley, Lenore J Launer, Davis S Knopman, Neeta Parimi, Stephen T Turner, Stefania Bandinelli, Marian Beekman, Danielle Gutman, Lital Sharvit, Simon P Mooijaart, David C Liewald, Jeanine J Houwing-Duistermaat, Claes Ohlsson, Matthijs Moed, Vincent J Verlinden, Dan Mellström, Jos N van der Geest, Magnus Karlsson, Dena Hernandez, Rebekah McWhirter, Yongmei Liu, Russell Thomson, Gregory J Tranah, Andre G Uitterlinden, David R Weir, Wei Zhao, John M Starr, Andrew D Johnson, M Arfan Ikram, David A Bennett, Steven R Cummings, Ian J Deary, Tamara B Harris, Sharon L R Kardia, Thomas H Mosley, Velandai K Srikanth, Beverly G Windham, Ann B Newman, Jeremy D Walston, Gail Davies, Daniel S Evans, Eline P Slagboom, Luigi Ferrucci, Douglas P Kiel, Joanne M Murabito, Gil Atzmon
Emerging evidence suggests that the basis for variation in late-life mobility is attributable, in part, to genetic factors, which may become increasingly important with age. Our objective was to systematically assess the contribution of genetic variation to gait speed in older individuals. We conducted a meta-analysis of gait speed GWASs in 31,478 older adults from 17 cohorts of the CHARGE consortium, and validated our results in 2,588 older adults from 4 independent studies. We followed our initial discoveries with network and eQTL analysis of candidate signals in tissues...
January 10, 2017: Aging
https://www.readbyqxmd.com/read/27929373/tumor-induced-mdsc-act-via-remote-control-to-inhibit-l-selectin-dependent-adaptive-immunity-in-lymph-nodes
#2
Amy W Ku, Jason B Muhitch, Colin A Powers, Michael Diehl, Minhyung Kim, Daniel T Fisher, Anand P Sharda, Virginia K Clements, Kieran O'Loughlin, Hans Minderman, Michelle N Messmer, Jing Ma, Joseph J Skitzki, Douglas A Steeber, Bruce Walcheck, Suzanne Ostrand-Rosenberg, Scott I Abrams, Sharon S Evans
Myeloid-derived suppressor cells (MDSC) contribute to an immunosuppressive network that drives cancer escape by disabling T cell adaptive immunity. The prevailing view is that MDSC-mediated immunosuppression is restricted to tissues where MDSC co-mingle with T cells. Here we show that splenic or, unexpectedly, blood-borne MDSC execute far-reaching immune suppression by reducing expression of the L-selectin lymph node (LN) homing receptor on naïve T and B cells. MDSC-induced L-selectin loss occurs through a contact-dependent, post-transcriptional mechanism that is independent of the major L-selectin sheddase, ADAM17, but results in significant elevation of circulating L-selectin in tumor-bearing mice...
December 8, 2016: ELife
https://www.readbyqxmd.com/read/27811861/a-survey-of-current-practices-for-genomic-sequencing-test-interpretation-and-reporting-processes-in-us-laboratories
#3
Julianne M O'Daniel, Heather M McLaughlin, Laura M Amendola, Sherri J Bale, Jonathan S Berg, David Bick, Kevin M Bowling, Elizabeth C Chao, Wendy K Chung, Laura K Conlin, Gregory M Cooper, Soma Das, Joshua L Deignan, Michael O Dorschner, James P Evans, Arezou A Ghazani, Katrina A Goddard, Michele Gornick, Kelly D Farwell Hagman, Tina Hambuch, Madhuri Hegde, Lucia A Hindorff, Ingrid A Holm, Gail P Jarvik, Amy Knight Johnson, Lindsey Mighion, Massimo Morra, Sharon E Plon, Sumit Punj, C Sue Richards, Avni Santani, Brian H Shirts, Nancy B Spinner, Sha Tang, Karen E Weck, Susan M Wolf, Yaping Yang, Heidi L Rehm
PURPOSE: While the diagnostic success of genomic sequencing expands, the complexity of this testing should not be overlooked. Numerous laboratory processes are required to support the identification, interpretation, and reporting of clinically significant variants. This study aimed to examine the workflow and reporting procedures among US laboratories to highlight shared practices and identify areas in need of standardization. METHODS: Surveys and follow-up interviews were conducted with laboratories offering exome and/or genome sequencing to support a research program or for routine clinical services...
November 3, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27798627/genome-wide-analysis-identifies-12-loci-influencing-human-reproductive-behavior
#4
Nicola Barban, Rick Jansen, Ronald de Vlaming, Ahmad Vaez, Jornt J Mandemakers, Felix C Tropf, Xia Shen, James F Wilson, Daniel I Chasman, Ilja M Nolte, Vinicius Tragante, Sander W van der Laan, John R B Perry, Augustine Kong, Tarunveer S Ahluwalia, Eva Albrecht, Laura Yerges-Armstrong, Gil Atzmon, Kirsi Auro, Kristin Ayers, Andrew Bakshi, Danny Ben-Avraham, Klaus Berger, Aviv Bergman, Lars Bertram, Lawrence F Bielak, Gyda Bjornsdottir, Marc Jan Bonder, Linda Broer, Minh Bui, Caterina Barbieri, Alana Cavadino, Jorge E Chavarro, Constance Turman, Maria Pina Concas, Heather J Cordell, Gail Davies, Peter Eibich, Nicholas Eriksson, Tõnu Esko, Joel Eriksson, Fahimeh Falahi, Janine F Felix, Mark Alan Fontana, Lude Franke, Ilaria Gandin, Audrey J Gaskins, Christian Gieger, Erica P Gunderson, Xiuqing Guo, Caroline Hayward, Chunyan He, Edith Hofer, Hongyan Huang, Peter K Joshi, Stavroula Kanoni, Robert Karlsson, Stefan Kiechl, Annette Kifley, Alexander Kluttig, Peter Kraft, Vasiliki Lagou, Cecile Lecoeur, Jari Lahti, Ruifang Li-Gao, Penelope A Lind, Tian Liu, Enes Makalic, Crysovalanto Mamasoula, Lindsay Matteson, Hamdi Mbarek, Patrick F McArdle, George McMahon, S Fleur W Meddens, Evelin Mihailov, Mike Miller, Stacey A Missmer, Claire Monnereau, Peter J van der Most, Ronny Myhre, Mike A Nalls, Teresa Nutile, Ioanna Panagiota Kalafati, Eleonora Porcu, Inga Prokopenko, Kumar B Rajan, Janet Rich-Edwards, Cornelius A Rietveld, Antonietta Robino, Lynda M Rose, Rico Rueedi, Kathleen A Ryan, Yasaman Saba, Daniel Schmidt, Jennifer A Smith, Lisette Stolk, Elizabeth Streeten, Anke Tönjes, Gudmar Thorleifsson, Sheila Ulivi, Juho Wedenoja, Juergen Wellmann, Peter Willeit, Jie Yao, Loic Yengo, Jing Hua Zhao, Wei Zhao, Daria V Zhernakova, Najaf Amin, Howard Andrews, Beverley Balkau, Nir Barzilai, Sven Bergmann, Ginevra Biino, Hans Bisgaard, Klaus Bønnelykke, Dorret I Boomsma, Julie E Buring, Harry Campbell, Stefania Cappellani, Marina Ciullo, Simon R Cox, Francesco Cucca, Daniela Toniolo, George Davey-Smith, Ian J Deary, George Dedoussis, Panos Deloukas, Cornelia M van Duijn, Eco J C de Geus, Johan G Eriksson, Denis A Evans, Jessica D Faul, Cinzia Felicita Sala, Philippe Froguel, Paolo Gasparini, Giorgia Girotto, Hans-Jörgen Grabe, Karin Halina Greiser, Patrick J F Groenen, Hugoline G de Haan, Johannes Haerting, Tamara B Harris, Andrew C Heath, Kauko Heikkilä, Albert Hofman, Georg Homuth, Elizabeth G Holliday, John Hopper, Elina Hyppönen, Bo Jacobsson, Vincent W V Jaddoe, Magnus Johannesson, Astanand Jugessur, Mika Kähönen, Eero Kajantie, Sharon L R Kardia, Bernard Keavney, Ivana Kolcic, Päivikki Koponen, Peter Kovacs, Florian Kronenberg, Zoltan Kutalik, Martina La Bianca, Genevieve Lachance, William G Iacono, Sandra Lai, Terho Lehtimäki, David C Liewald, Cecilia M Lindgren, Yongmei Liu, Robert Luben, Michael Lucht, Riitta Luoto, Per Magnus, Patrik K E Magnusson, Nicholas G Martin, Matt McGue, Ruth McQuillan, Sarah E Medland, Christa Meisinger, Dan Mellström, Andres Metspalu, Michela Traglia, Lili Milani, Paul Mitchell, Grant W Montgomery, Dennis Mook-Kanamori, Renée de Mutsert, Ellen A Nohr, Claes Ohlsson, Jørn Olsen, Ken K Ong, Lavinia Paternoster, Alison Pattie, Brenda W J H Penninx, Markus Perola, Patricia A Peyser, Mario Pirastu, Ozren Polasek, Chris Power, Jaakko Kaprio, Leslie J Raffel, Katri Räikkönen, Olli Raitakari, Paul M Ridker, Susan M Ring, Kathryn Roll, Igor Rudan, Daniela Ruggiero, Dan Rujescu, Veikko Salomaa, David Schlessinger, Helena Schmidt, Reinhold Schmidt, Nicole Schupf, Johannes Smit, Rossella Sorice, Tim D Spector, John M Starr, Doris Stöckl, Konstantin Strauch, Michael Stumvoll, Morris A Swertz, Unnur Thorsteinsdottir, A Roy Thurik, Nicholas J Timpson, Joyce Y Tung, André G Uitterlinden, Simona Vaccargiu, Jorma Viikari, Veronique Vitart, Henry Völzke, Peter Vollenweider, Dragana Vuckovic, Johannes Waage, Gert G Wagner, Jie Jin Wang, Nicholas J Wareham, David R Weir, Gonneke Willemsen, Johann Willeit, Alan F Wright, Krina T Zondervan, Kari Stefansson, Robert F Krueger, James J Lee, Daniel J Benjamin, David Cesarini, Philipp D Koellinger, Marcel den Hoed, Harold Snieder, Melinda C Mills
The genetic architecture of human reproductive behavior-age at first birth (AFB) and number of children ever born (NEB)-has a strong relationship with fitness, human development, infertility and risk of neuropsychiatric disorders. However, very few genetic loci have been identified, and the underlying mechanisms of AFB and NEB are poorly understood. We report a large genome-wide association study of both sexes including 251,151 individuals for AFB and 343,072 individuals for NEB. We identified 12 independent loci that are significantly associated with AFB and/or NEB in a SNP-based genome-wide association study and 4 additional loci associated in a gene-based effort...
December 2016: Nature Genetics
https://www.readbyqxmd.com/read/27773535/n6-methyladenosine-in-flaviviridae-viral-rna-genomes-regulates-infection
#5
Nandan S Gokhale, Alexa B R McIntyre, Michael J McFadden, Allison E Roder, Edward M Kennedy, Jorge A Gandara, Sharon E Hopcraft, Kendra M Quicke, Christine Vazquez, Jason Willer, Olga R Ilkayeva, Brittany A Law, Christopher L Holley, Mariano A Garcia-Blanco, Matthew J Evans, Mehul S Suthar, Shelton S Bradrick, Christopher E Mason, Stacy M Horner
The RNA modification N6-methyladenosine (m(6)A) post-transcriptionally regulates RNA function. The cellular machinery that controls m(6)A includes methyltransferases and demethylases that add or remove this modification, as well as m(6)A-binding YTHDF proteins that promote the translation or degradation of m(6)A-modified mRNA. We demonstrate that m(6)A modulates infection by hepatitis C virus (HCV). Depletion of m(6)A methyltransferases or an m(6)A demethylase, respectively, increases or decreases infectious HCV particle production...
November 9, 2016: Cell Host & Microbe
https://www.readbyqxmd.com/read/27564419/synthesis-and-antiobesity-properties-of-6-4-chlorophenyl-3-4-3-3-difluoro-1-hydroxycyclobutyl-methoxy-3-methoxyphenyl-thieno-3-2-d-pyrimidin-4-3h-one-bms-814580-a-highly-efficacious-melanin-concentrating-hormone-receptor-1-mchr1-inhibitor
#6
Saleem Ahmad, William N Washburn, Andres S Hernandez, Sharon Bisaha, Khehyong Ngu, Wei Wang, Mary Ann Pelleymounter, Daniel Longhi, Neil Flynn, Anthony V Azzara, Kenneth Rohrbach, James Devenny, Suzanne Rooney, Michael Thomas, Susan Glick, Helen Godonis, Susan Harvey, Hongwei Zhang, Brian Gemzik, Evan B Janovitz, Christine Huang, Lisa Zhang, Jeffrey A Robl, Brian J Murphy
The potent MCHR1 in vitro and in vivo antagonist activity of a series of cyclic tertiary alcohols derived from compound 2b is described. Subsequent pharmacokinetic and pharmacodynamic studies identified BMS-814580 (compound 10) as a highly efficacious antiobesity agent with a relatively clean in vitro and in vivo safety profile.
October 13, 2016: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/27476972/msh2-deficiency-leads-to-dysmyelination-of-the-corpus-callosum-impaired-locomotion-and-altered-sensory-function-in-mice
#7
Barthelemy Diouf, Prakash Devaraju, Laura J Janke, Yiping Fan, Sharon Frase, Donnie Eddins, Jennifer L Peters, Jieun Kim, Deqing Pei, Cheng Cheng, Stanislav S Zakharenko, William E Evans
A feature in patients with constitutional DNA-mismatch repair deficiency is agenesis of the corpus callosum, the cause of which has not been established. Here we report a previously unrecognized consequence of deficiency in MSH2, a protein known primarily for its function in correcting nucleotide mismatches or insertions and deletions in duplex DNA caused by errors in DNA replication or recombination. We documented that Msh2 deficiency causes dysmyelination of the axonal projections in the corpus callosum. Evoked action potentials in the myelinated corpus callosum projections of Msh2-null mice were smaller than wild-type mice, whereas unmyelinated axons showed no difference...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27467928/unlocking-tumor-vascular-barriers-with-cxcr3-implications-for-cancer-immunotherapy
#8
Maryann E Mikucki, Joseph J Skitzki, John G Frelinger, Kunle Odunsi, Thomas F Gajewski, Andrew D Luster, Sharon S Evans
Promising cancer immunotherapeutics depend on mobilization of cytotoxic T cells across tumor vascular barriers through mechanisms that are poorly understood. Recently, we discovered that the CXCR3 chemokine receptor uniquely functions as the master-regulator of cytotoxic CD8(+) T cell extravasation and tumor control despite the multiplicity of chemokines available in the tumor landscape.
May 2016: Oncoimmunology
https://www.readbyqxmd.com/read/27428651/ucn3-and-crf-r2-in-the-medial-amygdala-regulate-complex-social-dynamics
#9
Yair Shemesh, Oren Forkosh, Mathias Mahn, Sergey Anpilov, Yehezkel Sztainberg, Sharon Manashirov, Tamar Shlapobersky, Evan Elliott, Laure Tabouy, Gili Ezra, Elaine S Adler, Yair J Ben-Efraim, Shosh Gil, Yael Kuperman, Sharon Haramati, Julien Dine, Matthias Eder, Jan M Deussing, Elad Schneidman, Ofer Yizhar, Alon Chen
Social encounters are associated with varying degrees of emotional arousal and stress. The mechanisms underlying adequate socioemotional balance are unknown. The medial amygdala (MeA) is a brain region associated with social behavior in mice. Corticotropin-releasing factor receptor type-2 (CRF-R2) and its specific ligand urocortin-3 (Ucn3), known components of the behavioral stress response system, are highly expressed in the MeA. Here we show that mice deficient in CRF-R2 or Ucn3 exhibit abnormally low preference for novel conspecifics...
July 18, 2016: Nature Neuroscience
https://www.readbyqxmd.com/read/27392080/clinical-sequencing-exploratory-research-consortium-accelerating-evidence-based-practice-of-genomic-medicine
#10
Robert C Green, Katrina A B Goddard, Gail P Jarvik, Laura M Amendola, Paul S Appelbaum, Jonathan S Berg, Barbara A Bernhardt, Leslie G Biesecker, Sawona Biswas, Carrie L Blout, Kevin M Bowling, Kyle B Brothers, Wylie Burke, Charlisse F Caga-Anan, Arul M Chinnaiyan, Wendy K Chung, Ellen W Clayton, Gregory M Cooper, Kelly East, James P Evans, Stephanie M Fullerton, Levi A Garraway, Jeremy R Garrett, Stacy W Gray, Gail E Henderson, Lucia A Hindorff, Ingrid A Holm, Michelle Huckaby Lewis, Carolyn M Hutter, Pasi A Janne, Steven Joffe, David Kaufman, Bartha M Knoppers, Barbara A Koenig, Ian D Krantz, Teri A Manolio, Laurence McCullough, Jean McEwen, Amy McGuire, Donna Muzny, Richard M Myers, Deborah A Nickerson, Jeffrey Ou, Donald W Parsons, Gloria M Petersen, Sharon E Plon, Heidi L Rehm, J Scott Roberts, Dan Robinson, Joseph S Salama, Sarah Scollon, Richard R Sharp, Brian Shirts, Nancy B Spinner, Holly K Tabor, Peter Tarczy-Hornoch, David L Veenstra, Nikhil Wagle, Karen Weck, Benjamin S Wilfond, Kirk Wilhelmsen, Susan M Wolf, Julia Wynn, Joon-Ho Yu
No abstract text is available yet for this article.
July 7, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27380342/effect-of-deutetrabenazine-on-chorea-among-patients-with-huntington-disease-a-randomized-clinical-trial
#11
RANDOMIZED CONTROLLED TRIAL
Samuel Frank, Claudia M Testa, David Stamler, Elise Kayson, Charles Davis, Mary C Edmondson, Shari Kinel, Blair Leavitt, David Oakes, Christine O'Neill, Christina Vaughan, Jody Goldstein, Margaret Herzog, Victoria Snively, Jacquelyn Whaley, Cynthia Wong, Greg Suter, Joseph Jankovic, Joohi Jimenez-Shahed, Christine Hunter, Daniel O Claassen, Olivia C Roman, Victor Sung, Jenna Smith, Sarah Janicki, Ronda Clouse, Marie Saint-Hilaire, Anna Hohler, Denyse Turpin, Raymond C James, Ramon Rodriguez, Kyle Rizer, Karen E Anderson, Hope Heller, Alexis Carlson, Susan Criswell, Brad A Racette, Fredy J Revilla, Frederick Nucifora, Russell L Margolis, MaryJane Ong, Tilak Mendis, Neila Mendis, Carlos Singer, Monica Quesada, Jane S Paulsen, Thomas Brashers-Krug, Amanda Miller, Jane Kerr, Richard M Dubinsky, Carolyn Gray, Stewart A Factor, Elaine Sperin, Eric Molho, Mary Eglow, Sharon Evans, Rajeev Kumar, Christina Reeves, Ali Samii, Sylvain Chouinard, Monica Beland, Burton L Scott, Patrick T Hickey, Sherali Esmail, Wai Lun Alan Fung, Clare Gibbons, Lina Qi, Amy Colcher, Cory Hackmyer, Andrew McGarry, Kevin Klos, Mark Gudesblatt, Lori Fafard, Laura Graffitti, Daniel P Schneider, Rohit Dhall, Joanne M Wojcieszek, Kathrin LaFaver, Andrew Duker, Erin Neefus, Hilary Wilson-Perez, David Shprecher, Paola Wall, Karen A Blindauer, Lynn Wheeler, James T Boyd, Emily Houston, Eric S Farbman, Pinky Agarwal, Shirley W Eberly, Arthur Watts, Pierre N Tariot, Andrew Feigin, Scott Evans, Chris Beck, Constance Orme, Jon Edicola, Emily Christopher
IMPORTANCE: Deutetrabenazine is a novel molecule containing deuterium, which attenuates CYP2D6 metabolism and increases active metabolite half-lives and may therefore lead to stable systemic exposure while preserving key pharmacological activity. OBJECTIVE: To evaluate efficacy and safety of deutetrabenazine treatment to control chorea associated with Huntington disease. DESIGN, SETTING, AND PARTICIPANTS: Ninety ambulatory adults diagnosed with manifest Huntington disease and a baseline total maximal chorea score of 8 or higher (range, 0-28; lower score indicates less chorea) were enrolled from August 2013 to August 2014 and randomized to receive deutetrabenazine (n = 45) or placebo (n = 45) in a double-blind fashion at 34 Huntington Study Group sites...
July 5, 2016: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/27325353/gwas-analysis-of-handgrip-and-lower-body-strength-in-older-adults-in-the-charge-consortium
#12
Amy M Matteini, Toshiko Tanaka, David Karasik, Gil Atzmon, Wen-Chi Chou, John D Eicher, Andrew D Johnson, Alice M Arnold, Michele L Callisaya, Gail Davies, Daniel S Evans, Birte Holtfreter, Kurt Lohman, Kathryn L Lunetta, Massimo Mangino, Albert V Smith, Jennifer A Smith, Alexander Teumer, Lei Yu, Dan E Arking, Aron S Buchman, Lori B Chibinik, Philip L De Jager, Denis A Evans, Jessica D Faul, Melissa E Garcia, Irina Gillham-Nasenya, Vilmundur Gudnason, Albert Hofman, Yi-Hsiang Hsu, Till Ittermann, Lies Lahousse, David C Liewald, Yongmei Liu, Lorna Lopez, Fernando Rivadeneira, Jerome I Rotter, Kristin Siggeirsdottir, John M Starr, Russell Thomson, Gregory J Tranah, André G Uitterlinden, Uwe Völker, Henry Völzke, David R Weir, Kristine Yaffe, Wei Zhao, Wei Vivian Zhuang, Joseph M Zmuda, David A Bennett, Steven R Cummings, Ian J Deary, Luigi Ferrucci, Tamara B Harris, Sharon L R Kardia, Thomas Kocher, Stephen B Kritchevsky, Bruce M Psaty, Sudha Seshadri, Timothy D Spector, Velandai K Srikanth, B Gwen Windham, M Carola Zillikens, Anne B Newman, Jeremy D Walston, Douglas P Kiel, Joanne M Murabito
Decline in muscle strength with aging is an important predictor of health trajectory in the elderly. Several factors, including genetics, are proposed contributors to variability in muscle strength. To identify genetic contributors to muscle strength, a meta-analysis of genomewide association studies of handgrip was conducted. Grip strength was measured using a handheld dynamometer in 27 581 individuals of European descent over 65 years of age from 14 cohort studies. Genomewide association analysis was conducted on ~2...
October 2016: Aging Cell
https://www.readbyqxmd.com/read/27225129/genome-wide-association-study-identifies-74-loci-associated-with-educational-attainment
#13
Aysu Okbay, Jonathan P Beauchamp, Mark Alan Fontana, James J Lee, Tune H Pers, Cornelius A Rietveld, Patrick Turley, Guo-Bo Chen, Valur Emilsson, S Fleur W Meddens, Sven Oskarsson, Joseph K Pickrell, Kevin Thom, Pascal Timshel, Ronald de Vlaming, Abdel Abdellaoui, Tarunveer S Ahluwalia, Jonas Bacelis, Clemens Baumbach, Gyda Bjornsdottir, Johannes H Brandsma, Maria Pina Concas, Jaime Derringer, Nicholas A Furlotte, Tessel E Galesloot, Giorgia Girotto, Richa Gupta, Leanne M Hall, Sarah E Harris, Edith Hofer, Momoko Horikoshi, Jennifer E Huffman, Kadri Kaasik, Ioanna P Kalafati, Robert Karlsson, Augustine Kong, Jari Lahti, Sven J van der Lee, Christiaan deLeeuw, Penelope A Lind, Karl-Oskar Lindgren, Tian Liu, Massimo Mangino, Jonathan Marten, Evelin Mihailov, Michael B Miller, Peter J van der Most, Christopher Oldmeadow, Antony Payton, Natalia Pervjakova, Wouter J Peyrot, Yong Qian, Olli Raitakari, Rico Rueedi, Erika Salvi, Börge Schmidt, Katharina E Schraut, Jianxin Shi, Albert V Smith, Raymond A Poot, Beate St Pourcain, Alexander Teumer, Gudmar Thorleifsson, Niek Verweij, Dragana Vuckovic, Juergen Wellmann, Harm-Jan Westra, Jingyun Yang, Wei Zhao, Zhihong Zhu, Behrooz Z Alizadeh, Najaf Amin, Andrew Bakshi, Sebastian E Baumeister, Ginevra Biino, Klaus Bønnelykke, Patricia A Boyle, Harry Campbell, Francesco P Cappuccio, Gail Davies, Jan-Emmanuel De Neve, Panos Deloukas, Ilja Demuth, Jun Ding, Peter Eibich, Lewin Eisele, Niina Eklund, David M Evans, Jessica D Faul, Mary F Feitosa, Andreas J Forstner, Ilaria Gandin, Bjarni Gunnarsson, Bjarni V Halldórsson, Tamara B Harris, Andrew C Heath, Lynne J Hocking, Elizabeth G Holliday, Georg Homuth, Michael A Horan, Jouke-Jan Hottenga, Philip L de Jager, Peter K Joshi, Astanand Jugessur, Marika A Kaakinen, Mika Kähönen, Stavroula Kanoni, Liisa Keltigangas-Järvinen, Lambertus A L M Kiemeney, Ivana Kolcic, Seppo Koskinen, Aldi T Kraja, Martin Kroh, Zoltan Kutalik, Antti Latvala, Lenore J Launer, Maël P Lebreton, Douglas F Levinson, Paul Lichtenstein, Peter Lichtner, David C M Liewald, Anu Loukola, Pamela A Madden, Reedik Mägi, Tomi Mäki-Opas, Riccardo E Marioni, Pedro Marques-Vidal, Gerardus A Meddens, George McMahon, Christa Meisinger, Thomas Meitinger, Yusplitri Milaneschi, Lili Milani, Grant W Montgomery, Ronny Myhre, Christopher P Nelson, Dale R Nyholt, William E R Ollier, Aarno Palotie, Lavinia Paternoster, Nancy L Pedersen, Katja E Petrovic, David J Porteous, Katri Räikkönen, Susan M Ring, Antonietta Robino, Olga Rostapshova, Igor Rudan, Aldo Rustichini, Veikko Salomaa, Alan R Sanders, Antti-Pekka Sarin, Helena Schmidt, Rodney J Scott, Blair H Smith, Jennifer A Smith, Jan A Staessen, Elisabeth Steinhagen-Thiessen, Konstantin Strauch, Antonio Terracciano, Martin D Tobin, Sheila Ulivi, Simona Vaccargiu, Lydia Quaye, Frank J A van Rooij, Cristina Venturini, Anna A E Vinkhuyzen, Uwe Völker, Henry Völzke, Judith M Vonk, Diego Vozzi, Johannes Waage, Erin B Ware, Gonneke Willemsen, John R Attia, David A Bennett, Klaus Berger, Lars Bertram, Hans Bisgaard, Dorret I Boomsma, Ingrid B Borecki, Ute Bültmann, Christopher F Chabris, Francesco Cucca, Daniele Cusi, Ian J Deary, George V Dedoussis, Cornelia M van Duijn, Johan G Eriksson, Barbara Franke, Lude Franke, Paolo Gasparini, Pablo V Gejman, Christian Gieger, Hans-Jörgen Grabe, Jacob Gratten, Patrick J F Groenen, Vilmundur Gudnason, Pim van der Harst, Caroline Hayward, David A Hinds, Wolfgang Hoffmann, Elina Hyppönen, William G Iacono, Bo Jacobsson, Marjo-Riitta Järvelin, Karl-Heinz Jöckel, Jaakko Kaprio, Sharon L R Kardia, Terho Lehtimäki, Steven F Lehrer, Patrik K E Magnusson, Nicholas G Martin, Matt McGue, Andres Metspalu, Neil Pendleton, Brenda W J H Penninx, Markus Perola, Nicola Pirastu, Mario Pirastu, Ozren Polasek, Danielle Posthuma, Christine Power, Michael A Province, Nilesh J Samani, David Schlessinger, Reinhold Schmidt, Thorkild I A Sørensen, Tim D Spector, Kari Stefansson, Unnur Thorsteinsdottir, A Roy Thurik, Nicholas J Timpson, Henning Tiemeier, Joyce Y Tung, André G Uitterlinden, Veronique Vitart, Peter Vollenweider, David R Weir, James F Wilson, Alan F Wright, Dalton C Conley, Robert F Krueger, George Davey Smith, Albert Hofman, David I Laibson, Sarah E Medland, Michelle N Meyer, Jian Yang, Magnus Johannesson, Peter M Visscher, Tõnu Esko, Philipp D Koellinger, David Cesarini, Daniel J Benjamin
Educational attainment is strongly influenced by social and other environmental factors, but genetic factors are estimated to account for at least 20% of the variation across individuals. Here we report the results of a genome-wide association study (GWAS) for educational attainment that extends our earlier discovery sample of 101,069 individuals to 293,723 individuals, and a replication study in an independent sample of 111,349 individuals from the UK Biobank. We identify 74 genome-wide significant loci associated with the number of years of schooling completed...
26, 2016: Nature
https://www.readbyqxmd.com/read/27181682/clinical-sequencing-exploratory-research-consortium-accelerating-evidence-based-practice-of-genomic-medicine
#14
Robert C Green, Katrina A B Goddard, Gail P Jarvik, Laura M Amendola, Paul S Appelbaum, Jonathan S Berg, Barbara A Bernhardt, Leslie G Biesecker, Sawona Biswas, Carrie L Blout, Kevin M Bowling, Kyle B Brothers, Wylie Burke, Charlisse F Caga-Anan, Arul M Chinnaiyan, Wendy K Chung, Ellen W Clayton, Gregory M Cooper, Kelly East, James P Evans, Stephanie M Fullerton, Levi A Garraway, Jeremy R Garrett, Stacy W Gray, Gail E Henderson, Lucia A Hindorff, Ingrid A Holm, Michelle Huckaby Lewis, Carolyn M Hutter, Pasi A Janne, Steven Joffe, David Kaufman, Bartha M Knoppers, Barbara A Koenig, Ian D Krantz, Teri A Manolio, Laurence McCullough, Jean McEwen, Amy McGuire, Donna Muzny, Richard M Myers, Deborah A Nickerson, Jeffrey Ou, Donald W Parsons, Gloria M Petersen, Sharon E Plon, Heidi L Rehm, J Scott Roberts, Dan Robinson, Joseph S Salama, Sarah Scollon, Richard R Sharp, Brian Shirts, Nancy B Spinner, Holly K Tabor, Peter Tarczy-Hornoch, David L Veenstra, Nikhil Wagle, Karen Weck, Benjamin S Wilfond, Kirk Wilhelmsen, Susan M Wolf, Julia Wynn, Joon-Ho Yu
Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinical Sequencing Exploratory Research (CSER) consortium includes 18 extramural research projects, one National Human Genome Research Institute (NHGRI) intramural project, and a coordinating center funded by the NHGRI and National Cancer Institute. The consortium is exploring analytic and clinical validity and utility, as well as the ethical, legal, and social implications of sequencing via multidisciplinary approaches; it has thus far recruited 5,577 participants across a spectrum of symptomatic and healthy children and adults by utilizing both germline and cancer sequencing...
June 2, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27159400/association-of-mtor-mutations-with-developmental-brain-disorders-including-megalencephaly-focal-cortical-dysplasia-and-pigmentary-mosaicism
#15
Ghayda M Mirzaa, Catarina D Campbell, Nadia Solovieff, Carleton P Goold, Laura A Jansen, Suchithra Menon, Andrew E Timms, Valerio Conti, Jonathan D Biag, Carissa Olds, Evan August Boyle, Sarah Collins, Gisele Ishak, Sandra L Poliachik, Katta M Girisha, Kit-San Yeung, Brian Hon Yin Chung, Elisa Rahikkala, Sonya A Gunter, Sharon S McDaniel, Colleen Forsyth Macmurdo, Jonathan A Bernstein, Beth Martin, Rebecca J Leary, Scott Mahan, Shanming Liu, Molly Weaver, Michael O Dorschner, Shalini Jhangiani, Donna M Muzny, Eric Boerwinkle, Richard A Gibbs, James R Lupski, Jay Shendure, Russell P Saneto, Edward J Novotny, Christopher J Wilson, William R Sellers, Michael P Morrissey, Robert F Hevner, Jeffrey G Ojemann, Renzo Guerrini, Leon O Murphy, Wendy Winckler, William B Dobyns
IMPORTANCE: Focal cortical dysplasia (FCD), hemimegalencephaly, and megalencephaly constitute a spectrum of malformations of cortical development with shared neuropathologic features. These disorders are associated with significant childhood morbidity and mortality. OBJECTIVE: To identify the underlying molecular cause of FCD, hemimegalencephaly, and diffuse megalencephaly. DESIGN, SETTING, AND PARTICIPANTS: Patients with FCD, hemimegalencephaly, or megalencephaly (mean age, 11...
July 1, 2016: JAMA Neurology
https://www.readbyqxmd.com/read/27079599/rebound-tonometry-over-an-air-filled-anterior-chamber-in-the-supine-child-after-intraocular-surgery
#16
RANDOMIZED CONTROLLED TRIAL
Ryan Davis, Kim Jiramongkolchai, Evan Silverstein, Sharon F Freedman
BACKGROUND: Intracameral air is a critical component of multiple ophthalmic surgical procedures and is frequently used in pediatric intraocular surgery. Among other benefits, it helps to facilitate postoperative examination in uncooperative children by allowing quick confirmation of a formed anterior chamber. The purpose of this study was to evaluate the usefulness and accuracy of a position-independent rebound tonometer (Icare PRO) in measuring intraocular pressure (IOP) intraoperatively in pediatric eyes with intracameral air compared to a commonly used handheld applanation tonometer (Tono-Pen XL)...
April 2016: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/26949431/measurement-of-diffuse-ventricular-fibrosis-with-myocardial-t1-in-patients-with-atrial-fibrillation
#17
Jay A Montgomery, Wissam Abdallah, Zachary T Yoneda, Evan Brittain, Sam G Aznaurov, Babar Parvez, Keith Adkins, S Patrick Whalen, J C Estrada, Sharon Shen, George H Crossley, Arvindh Kanagasundram, Pablo Saavedra, Christopher R Ellis, Mark Lawson, Dawood Darbar, M Benjamin Shoemaker
BACKGROUND: Atrial fibrillation (AF) is associated with cardiac fibrosis, which can now be measured noninvasively using T1-mapping with cardiac magnetic resonance imaging (CMRI). This study aimed to assess the impact of AF on ventricular T1 at the time of CMRI. METHODS: Subjects with AF scheduled for AF ablation underwent CMRI with standard electrocardiography gating and breath-hold protocols on a 1.5 T scanner with post-contrast ventricular T1 recorded from 6 regions of interest at the mid-ventricle...
February 2016: Journal of Arrhythmia
https://www.readbyqxmd.com/read/26925428/ebola-or-not-evaluating-the-ill-traveler-from-ebola-affected-countries-in-west-africa
#18
Jessica K Fairley, Phyllis E Kozarsky, Colleen S Kraft, Jeannette Guarner, James P Steinberg, Evan Anderson, Jesse T Jacob, Patrick Meloy, Darria Gillespie, Tamara R Espinoza, Alexander Isakov, Sharon Vanairsdale, Esther Baker, Henry M Wu
Background.  The 2014-2015 Ebola epidemic in West Africa had global impact beyond the primarily affected countries of Guinea, Liberia, and Sierra Leone. Other countries, including the United States, encountered numerous patients who arrived from highly affected countries with fever or other signs or symptoms consistent with Ebola virus disease (EVD). Methods.  We describe our experience evaluating 25 travelers who met the US Centers for Disease Control and Prevention case definition for a person under investigation (PUI) for EVD from July 20, 2014 to January 28, 2015...
January 2016: Open Forum Infectious Diseases
https://www.readbyqxmd.com/read/26883450/intraoperative-intravital-microscopy-permits-the-study-of-human-tumour-vessels
#19
Daniel T Fisher, Jason B Muhitch, Minhyung Kim, Kurt C Doyen, Paul N Bogner, Sharon S Evans, Joseph J Skitzki
Tumour vessels have been studied extensively as they are critical sites for drug delivery, anti-angiogenic therapies and immunotherapy. As a preclinical tool, intravital microscopy (IVM) allows for in vivo real-time direct observation of vessels at the cellular level. However, to date there are no reports of intravital high-resolution imaging of human tumours in the clinical setting. Here we report the feasibility of IVM examinations of human malignant disease with an emphasis on tumour vasculature as the major site of tumour-host interactions...
February 17, 2016: Nature Communications
https://www.readbyqxmd.com/read/26831199/genetic-associations-at-53-loci-highlight-cell-types-and-biological-pathways-relevant-for-kidney-function
#20
Cristian Pattaro, Alexander Teumer, Mathias Gorski, Audrey Y Chu, Man Li, Vladan Mijatovic, Maija Garnaas, Adrienne Tin, Rossella Sorice, Yong Li, Daniel Taliun, Matthias Olden, Meredith Foster, Qiong Yang, Ming-Huei Chen, Tune H Pers, Andrew D Johnson, Yi-An Ko, Christian Fuchsberger, Bamidele Tayo, Michael Nalls, Mary F Feitosa, Aaron Isaacs, Abbas Dehghan, Pio d'Adamo, Adebowale Adeyemo, Aida Karina Dieffenbach, Alan B Zonderman, Ilja M Nolte, Peter J van der Most, Alan F Wright, Alan R Shuldiner, Alanna C Morrison, Albert Hofman, Albert V Smith, Albert W Dreisbach, Andre Franke, Andre G Uitterlinden, Andres Metspalu, Anke Tonjes, Antonio Lupo, Antonietta Robino, Åsa Johansson, Ayse Demirkan, Barbara Kollerits, Barry I Freedman, Belen Ponte, Ben A Oostra, Bernhard Paulweber, Bernhard K Krämer, Braxton D Mitchell, Brendan M Buckley, Carmen A Peralta, Caroline Hayward, Catherine Helmer, Charles N Rotimi, Christian M Shaffer, Christian Müller, Cinzia Sala, Cornelia M van Duijn, Aude Saint-Pierre, Daniel Ackermann, Daniel Shriner, Daniela Ruggiero, Daniela Toniolo, Yingchang Lu, Daniele Cusi, Darina Czamara, David Ellinghaus, David S Siscovick, Douglas Ruderfer, Christian Gieger, Harald Grallert, Elena Rochtchina, Elizabeth J Atkinson, Elizabeth G Holliday, Eric Boerwinkle, Erika Salvi, Erwin P Bottinger, Federico Murgia, Fernando Rivadeneira, Florian Ernst, Florian Kronenberg, Frank B Hu, Gerjan J Navis, Gary C Curhan, George B Ehret, Georg Homuth, Stefan Coassin, Gian-Andri Thun, Giorgio Pistis, Giovanni Gambaro, Giovanni Malerba, Grant W Montgomery, Gudny Eiriksdottir, Gunnar Jacobs, Guo Li, H-Erich Wichmann, Harry Campbell, Helena Schmidt, Henri Wallaschofski, Henry Völzke, Hermann Brenner, Heyo K Kroemer, Holly Kramer, Honghuang Lin, I Mateo Leach, Ian Ford, Idris Guessous, Igor Rudan, Inga Prokopenko, Ingrid Borecki, Iris M Heid, Ivana Kolcic, Ivana Persico, J Wouter Jukema, James F Wilson, Janine F Felix, Jasmin Divers, Jean-Charles Lambert, Jeanette M Stafford, Jean-Michel Gaspoz, Jennifer A Smith, Jessica D Faul, Jie Jin Wang, Jingzhong Ding, Joel N Hirschhorn, John Attia, John B Whitfield, John Chalmers, Jorma Viikari, Josef Coresh, Joshua C Denny, Juha Karjalainen, Jyotika K Fernandes, Karlhans Endlich, Katja Butterbach, Keith L Keene, Kurt Lohman, Laura Portas, Lenore J Launer, Leo-Pekka Lyytikäinen, Loic Yengo, Lude Franke, Luigi Ferrucci, Lynda M Rose, Lyudmyla Kedenko, Madhumathi Rao, Maksim Struchalin, Marcus E Kleber, Margherita Cavalieri, Margot Haun, Marilyn C Cornelis, Marina Ciullo, Mario Pirastu, Mariza de Andrade, Mark A McEvoy, Mark Woodward, Martin Adam, Massimiliano Cocca, Matthias Nauck, Medea Imboden, Melanie Waldenberger, Menno Pruijm, Marie Metzger, Michael Stumvoll, Michele K Evans, Michele M Sale, Mika Kähönen, Mladen Boban, Murielle Bochud, Myriam Rheinberger, Niek Verweij, Nabila Bouatia-Naji, Nicholas G Martin, Nick Hastie, Nicole Probst-Hensch, Nicole Soranzo, Olivier Devuyst, Olli Raitakari, Omri Gottesman, Oscar H Franco, Ozren Polasek, Paolo Gasparini, Patricia B Munroe, Paul M Ridker, Paul Mitchell, Paul Muntner, Christa Meisinger, Johannes H Smit, Peter Kovacs, Philipp S Wild, Philippe Froguel, Rainer Rettig, Reedik Mägi, Reiner Biffar, Reinhold Schmidt, Rita P S Middelberg, Robert J Carroll, Brenda W Penninx, Rodney J Scott, Ronit Katz, Sanaz Sedaghat, Sarah H Wild, Sharon L R Kardia, Sheila Ulivi, Shih-Jen Hwang, Stefan Enroth, Stefan Kloiber, Stella Trompet, Benedicte Stengel, Stephen J Hancock, Stephen T Turner, Sylvia E Rosas, Sylvia Stracke, Tamara B Harris, Tanja Zeller, Tatijana Zemunik, Terho Lehtimäki, Thomas Illig, Thor Aspelund, Tiit Nikopensius, Tonu Esko, Toshiko Tanaka, Ulf Gyllensten, Uwe Völker, Valur Emilsson, Veronique Vitart, Ville Aalto, Vilmundur Gudnason, Vincent Chouraki, Wei-Min Chen, Wilmar Igl, Winfried März, Wolfgang Koenig, Wolfgang Lieb, Ruth J F Loos, Yongmei Liu, Harold Snieder, Peter P Pramstaller, Afshin Parsa, Jeffrey R O'Connell, Katalin Susztak, Pavel Hamet, Johanne Tremblay, Ian H de Boer, Carsten A Böger, Wolfram Goessling, Daniel I Chasman, Anna Köttgen, W H Linda Kao, Caroline S Fox
Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose metabolism...
January 21, 2016: Nature Communications
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