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https://www.readbyqxmd.com/read/28556675/a-new-modeling-approach-allowing-prediction-and-comparison-of-the-long-term-outcomes-of-treatments-for-hemophilia-b
#1
Marjolijn van Keep, Christina Stentoft Hoxer, Matthew Hemstock, Andreas Velsing Groth, Christopher Knight
AIM: To develop a modeling approach to compare clinical outcomes of nonacog beta pegol to a standard-acting factor IX (FIX) product. METHODS: Regression analysis linked FIX activity to bleed rates. Pharmacokinetic parameters were used to estimate FIX activity over time. The probability of bleeds was estimated for both treatment arms. A Markov model estimated the presence of target joints and annualized bleed rates (ABRs). RESULTS: Higher FIX activity showed reduced ABRs (p < 0...
May 30, 2017: Journal of Comparative Effectiveness Research
https://www.readbyqxmd.com/read/28544568/depression-risk-in-young-adults-with-childhood-and-adult-onset-lupus-12-years-of-follow-up
#2
Andrea M Knight, Laura Trupin, Patricia Katz, Edward Yelin, Erica F Lawson
OBJECTIVE: To compare major depression risk among young adults with childhood-onset and adult-onset systemic lupus erythematosus (SLE), and to determine demographic and health-related predictors of depression. METHODS: Young adults with SLE ages 18-45 years (n=546) in the Lupus Outcomes Study completed annual telephone surveys from 2002-2015, including assessment of depression using the Center for Epidemiological Studies Depression Scale (CES-D), and self-report measures of sociodemographics and health characteristics...
May 23, 2017: Arthritis Care & Research
https://www.readbyqxmd.com/read/28508897/whole-genome-analysis-of-a-schistosomiasis-transmitting-freshwater-snail
#3
Coen M Adema, LaDeana W Hillier, Catherine S Jones, Eric S Loker, Matty Knight, Patrick Minx, Guilherme Oliveira, Nithya Raghavan, Andrew Shedlock, Laurence Rodrigues do Amaral, Halime D Arican-Goktas, Juliana G Assis, Elio Hideo Baba, Olga L Baron, Christopher J Bayne, Utibe Bickham-Wright, Kyle K Biggar, Michael Blouin, Bryony C Bonning, Chris Botka, Joanna M Bridger, Katherine M Buckley, Sarah K Buddenborg, Roberta Lima Caldeira, Julia Carleton, Omar S Carvalho, Maria G Castillo, Iain W Chalmers, Mikkel Christensens, Sandra Clifton, Celine Cosseau, Christine Coustau, Richard M Cripps, Yesid Cuesta-Astroz, Scott F Cummins, Leon di Stephano, Nathalie Dinguirard, David Duval, Scott Emrich, Cédric Feschotte, Rene Feyereisen, Peter FitzGerald, Catrina Fronick, Lucinda Fulton, Richard Galinier, Sandra G Gava, Michael Geusz, Kathrin K Geyer, Gloria I Giraldo-Calderón, Matheus de Souza Gomes, Michelle A Gordy, Benjamin Gourbal, Christoph Grunau, Patrick C Hanington, Karl F Hoffmann, Daniel Hughes, Judith Humphries, Daniel J Jackson, Liana K Jannotti-Passos, Wander de Jesus Jeremias, Susan Jobling, Bishoy Kamel, Aurélie Kapusta, Satwant Kaur, Joris M Koene, Andrea B Kohn, Dan Lawson, Scott P Lawton, Di Liang, Yanin Limpanont, Sijun Liu, Anne E Lockyer, TyAnna L Lovato, Fernanda Ludolf, Vince Magrini, Donald P McManus, Monica Medina, Milind Misra, Guillaume Mitta, Gerald M Mkoji, Michael J Montague, Cesar Montelongo, Leonid L Moroz, Monica C Munoz-Torres, Umar Niazi, Leslie R Noble, Francislon S Oliveira, Fabiano S Pais, Anthony T Papenfuss, Rob Peace, Janeth J Pena, Emmanuel A Pila, Titouan Quelais, Brian J Raney, Jonathan P Rast, David Rollinson, Izinara C Rosse, Bronwyn Rotgans, Edwin J Routledge, Kathryn M Ryan, Larissa L S Scholte, Kenneth B Storey, Martin Swain, Jacob A Tennessen, Chad Tomlinson, Damian L Trujillo, Emanuela V Volpi, Anthony J Walker, Tianfang Wang, Ittiprasert Wannaporn, Wesley C Warren, Xiao-Jun Wu, Timothy P Yoshino, Mohammed Yusuf, Si-Ming Zhang, Min Zhao, Richard K Wilson
Biomphalaria snails are instrumental in transmission of the human blood fluke Schistosoma mansoni. With the World Health Organization's goal to eliminate schistosomiasis as a global health problem by 2025, there is now renewed emphasis on snail control. Here, we characterize the genome of Biomphalaria glabrata, a lophotrochozoan protostome, and provide timely and important information on snail biology. We describe aspects of phero-perception, stress responses, immune function and regulation of gene expression that support the persistence of B...
May 16, 2017: Nature Communications
https://www.readbyqxmd.com/read/28453716/inflated-medicine-prices-in-vietnam-a-qualitative-study
#4
Tuan Anh Nguyen, Rosemary Knight, Andrea Mant, Husna Razee, Geoffrey Brooks, Thu Ha Dang, Elizabeth Ellen Roughead
One third of the world's population lacks regular access to essential medicines partly because of the high cost of medicines. In Vietnam, the cost to patients of medicines was 47 times the international reference price for originator brands and 11 times the price for generic equivalents in the public sector. In this article, we report the results of a qualitative study conducted to identify the principal reasons for inflated medicine prices in Vietnam.Between April 2008 and December 2009, 29 semi-structured interviews were conducted with staff from pharmaceutical companies, private pharmacies, the Ministry of Health, and the Ministry of Finance of Vietnam...
June 1, 2017: Health Policy and Planning
https://www.readbyqxmd.com/read/28438916/nearly-400-million-people-are-at-higher-risk-of-schistosomiasis-because-dams-block-the-migration-of-snail-eating-river-prawns
#5
Susanne H Sokolow, Isabel J Jones, Merlijn Jocque, Diana La, Olivia Cords, Anika Knight, Andrea Lund, Chelsea L Wood, Kevin D Lafferty, Christopher M Hoover, Phillip A Collender, Justin V Remais, David Lopez-Carr, Jonathan Fisk, Armand M Kuris, Giulio A De Leo
Dams have long been associated with elevated burdens of human schistosomiasis, but how dams increase disease is not always clear, in part because dams have many ecological and socio-economic effects. A recent hypothesis argues that dams block reproduction of the migratory river prawns that eat the snail hosts of schistosomiasis. In the Senegal River Basin, there is evidence that prawn populations declined and schistosomiasis increased after completion of the Diama Dam. Restoring prawns to a water-access site upstream of the dam reduced snail density and reinfection rates in people...
June 5, 2017: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/28293327/the-dynamic-dna-methylation-landscape-of-the-mutl-homolog-1-shore-is-altered-by-mlh1-93g-a-polymorphism-in-normal-tissues-and-colorectal-cancer
#6
Andrea J Savio, Miralem Mrkonjic, Mathieu Lemire, Steven Gallinger, Julia A Knight, Bharat Bapat
BACKGROUND: Colorectal cancers (CRCs) undergo distinct genetic and epigenetic alterations. Expression of mutL homolog 1 (MLH1), a mismatch repair gene that corrects DNA replication errors, is lost in up to 15% of sporadic tumours due to mutation or, more commonly, due to DNA methylation of its promoter CpG island. A single nucleotide polymorphism (SNP) in the CpG island of MLH1 (MLH1-93G>A or rs1800734) is associated with CpG island hypermethylation and decreased MLH1 expression in CRC tumours...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28265087/classroom-sound-can-be-used-to-classify-teaching-practices-in-college-science-courses
#7
Melinda T Owens, Shannon B Seidel, Mike Wong, Travis E Bejines, Susanne Lietz, Joseph R Perez, Shangheng Sit, Zahur-Saleh Subedar, Gigi N Acker, Susan F Akana, Brad Balukjian, Hilary P Benton, J R Blair, Segal M Boaz, Katharyn E Boyer, Jason B Bram, Laura W Burrus, Dana T Byrd, Natalia Caporale, Edward J Carpenter, Yee-Hung Mark Chan, Lily Chen, Amy Chovnick, Diana S Chu, Bryan K Clarkson, Sara E Cooper, Catherine Creech, Karen D Crow, José R de la Torre, Wilfred F Denetclaw, Kathleen E Duncan, Amy S Edwards, Karen L Erickson, Megumi Fuse, Joseph J Gorga, Brinda Govindan, L Jeanette Green, Paul Z Hankamp, Holly E Harris, Zheng-Hui He, Stephen Ingalls, Peter D Ingmire, J Rebecca Jacobs, Mark Kamakea, Rhea R Kimpo, Jonathan D Knight, Sara K Krause, Lori E Krueger, Terrye L Light, Lance Lund, Leticia M Márquez-Magaña, Briana K McCarthy, Linda J McPheron, Vanessa C Miller-Sims, Christopher A Moffatt, Pamela C Muick, Paul H Nagami, Gloria L Nusse, Kristine M Okimura, Sally G Pasion, Robert Patterson, Pleuni S Pennings, Blake Riggs, Joseph Romeo, Scott W Roy, Tatiane Russo-Tait, Lisa M Schultheis, Lakshmikanta Sengupta, Rachel Small, Greg S Spicer, Jonathon H Stillman, Andrea Swei, Jennifer M Wade, Steven B Waters, Steven L Weinstein, Julia K Willsie, Diana W Wright, Colin D Harrison, Loretta A Kelley, Gloriana Trujillo, Carmen R Domingo, Jeffrey N Schinske, Kimberly D Tanner
Active-learning pedagogies have been repeatedly demonstrated to produce superior learning gains with large effect sizes compared with lecture-based pedagogies. Shifting large numbers of college science, technology, engineering, and mathematics (STEM) faculty to include any active learning in their teaching may retain and more effectively educate far more students than having a few faculty completely transform their teaching, but the extent to which STEM faculty are changing their teaching methods is unclear...
March 21, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28160482/inflated-medicine-prices-in-vietnam-a-qualitative-study
#8
Tuan Anh Nguyen, Rosemary Knight, Andrea Mant, Husna Razee, Geoffrey Brooks, Thu Ha Dang, Elizabeth Ellen Roughead
No abstract text is available yet for this article.
February 4, 2017: Health Policy and Planning
https://www.readbyqxmd.com/read/28070282/the-database-of-the-predicts-projecting-responses-of-ecological-diversity-in-changing-terrestrial-systems-project
#9
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/28056036/the-9aatad-is-exclusive-activation-domain-in-gal4
#10
Martin Piskacek, Marek Havelka, Martina Rezacova, Andrea Knight
The Gal4 protein is a well-known prototypic acidic activator that has multiple activation domains. We have previously identified a new activation domain called the nine amino acid transactivation domain (9aaTAD) in Gal4 protein. The family of the 9aaTAD activators currently comprises over 40 members including p53, MLL, E2A and other members of the Gal4 family; Oaf1, Pip2, Pdr1 and Pdr3. In this study, we revised function of all reported Gal4 activation domains. Surprisingly, we found that beside of the activation domain 9aaTAD none of the previously reported activation domains had considerable transactivation potential and were not involved in the activation of transcription...
2017: PloS One
https://www.readbyqxmd.com/read/27880749/early-diagnosis-of-hiv-infection-in-infants-one-caribbean-and-six-sub-saharan-african-countries-2011-2015
#11
Karidia Diallo, Andrea A Kim, Shirley Lecher, Dennis Ellenberger, R Suzanne Beard, Helen Dale, Mackenzie Hurlston, Molly Rivadeneira, Peter N Fonjungo, Laura N Broyles, Guoqing Zhang, Katrina Sleeman, Shon Nguyen, Steve Jadczak, Nadine Abiola, Raimi Ewetola, Jérémie Muwonga, Franck Fwamba, Christina Mwangi, Mary Naluguza, Charles Kiyaga, Isaac Ssewanyana, Deyde Varough, Domercant Wysler, David Lowrance, Frantz Jean Louis, Olbeg Desinor, Josiane Buteau, Francois Kesner, Vanessa Rouzier, Nat Segaren, Tessa Lewis, Abdoulaye Sarr, Geoffrey Chipungu, Sundeep Gupta, Daniel Singer, Reuben Mwenda, Hilary Kapoteza, Zawadi Chipeta, Nancy Knight, Sergio Carmona, William MacLeod, Gayle Sherman, Yogan Pillay, Clement B Ndongmo, Bridget Mugisa, Annie Mwila, James McAuley, Peter J Chipimo, Wezi Kaonga, Dailess Nsofwa, Davy Nsama, Fales Zulu Mwamba, Crispin Moyo, Clement Phiri, Marie-Yolande Borget, Leonard Ya-Kouadio, Abo Kouame, Christiane A Adje-Toure, John Nkengasong
Pediatric human immunodeficiency virus (HIV) infection remains an important public health issue in resource-limited settings. In 2015, 1.4 million children aged <15 years were estimated to be living with HIV (including 170,000 infants born in 2015), with the vast majority living in sub-Saharan Africa (1). In 2014, 150,000 children died from HIV-related causes worldwide (2). Access to timely HIV diagnosis and treatment for HIV-infected infants reduces HIV-associated mortality, which is approximately 50% by age 2 years without treatment (3)...
November 25, 2016: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/27875875/on-the-accuracy-of-the-mb-pol-many-body-potential-for-water-interaction-energies-vibrational-frequencies-and-classical-thermodynamic-and-dynamical-properties-from-clusters-to-liquid-water-and-ice
#12
Sandeep K Reddy, Shelby C Straight, Pushp Bajaj, C Huy Pham, Marc Riera, Daniel R Moberg, Miguel A Morales, Chris Knight, Andreas W Götz, Francesco Paesani
The MB-pol many-body potential has recently emerged as an accurate molecular model for water simulations from the gas to the condensed phase. In this study, the accuracy of MB-pol is systematically assessed across the three phases of water through extensive comparisons with experimental data and high-level ab initio calculations. Individual many-body contributions to the interaction energies as well as vibrational spectra of water clusters calculated with MB-pol are in excellent agreement with reference data obtained at the coupled cluster level...
November 21, 2016: Journal of Chemical Physics
https://www.readbyqxmd.com/read/27871674/the-white-knight-hypothesis-or-does-the-environment-limit-innovations
#13
REVIEW
Andreas Wagner
Organisms often harbor latent traits that are byproducts of other adaptations. Such latent traits are not themselves adaptive but can become adaptive in the right environment. Here I discuss several examples of such traits. Their abundance suggests that environmental change rather than new mutations might often limit the origin of evolutionary adaptations and innovations. This is important, because environments can change much faster than new mutations arise. I introduce a conceptual model that distinguishes between mutation-limited and environment-limited trait origins and suggest how experiments could help discriminate between them...
November 18, 2016: Trends in Ecology & Evolution
https://www.readbyqxmd.com/read/27816373/the-tb-vaccine-h56-ic31-dose-response-curve-is-peaked-not-saturating-data-generation-for-new-mathematical-modelling-methods-to-inform-vaccine-dose-decisions
#14
Sophie J Rhodes, Andrea Zelmer, Gwenan M Knight, Satria Arief Prabowo, Lisa Stockdale, Thomas G Evans, Thomas Lindenstrøm, Richard G White, Helen Fletcher
INTRODUCTION: In vaccine development, dose-response curves are commonly assumed to be saturating. Evidence from tuberculosis (TB) vaccine, H56+IC31 shows this may be incorrect. Mathematical modelling techniques may be useful in efficiently identifying the most immunogenic dose, but model calibration requires longitudinal data across multiple doses and time points. AIMS: We aimed to (i) generate longitudinal response data in mice for a wide range of H56+IC31 doses for use in future mathematical modelling and (ii) test whether a 'saturating' or 'peaked' dose-response curve, better fit the empirical data...
December 7, 2016: Vaccine
https://www.readbyqxmd.com/read/27717399/an-epigenetic-clock-for-gestational-age-at-birth-based-on-blood-methylation-data
#15
Anna K Knight, Jeffrey M Craig, Christiane Theda, Marie Bækvad-Hansen, Jonas Bybjerg-Grauholm, Christine S Hansen, Mads V Hollegaard, David M Hougaard, Preben B Mortensen, Shantel M Weinsheimer, Thomas M Werge, Patricia A Brennan, Joseph F Cubells, D Jeffrey Newport, Zachary N Stowe, Jeanie L Y Cheong, Philippa Dalach, Lex W Doyle, Yuk J Loke, Andrea A Baccarelli, Allan C Just, Robert O Wright, Mara M Téllez-Rojo, Katherine Svensson, Letizia Trevisi, Elizabeth M Kennedy, Elisabeth B Binder, Stella Iurato, Darina Czamara, Katri Räikkönen, Jari M T Lahti, Anu-Katriina Pesonen, Eero Kajantie, Pia M Villa, Hannele Laivuori, Esa Hämäläinen, Hea Jin Park, Lynn B Bailey, Sasha E Parets, Varun Kilaru, Ramkumar Menon, Steve Horvath, Nicole R Bush, Kaja Z LeWinn, Frances A Tylavsky, Karen N Conneely, Alicia K Smith
BACKGROUND: Gestational age is often used as a proxy for developmental maturity by clinicians and researchers alike. DNA methylation has previously been shown to be associated with age and has been used to accurately estimate chronological age in children and adults. In the current study, we examine whether DNA methylation in cord blood can be used to estimate gestational age at birth. RESULTS: We find that gestational age can be accurately estimated from DNA methylation of neonatal cord blood and blood spot samples...
October 7, 2016: Genome Biology
https://www.readbyqxmd.com/read/27686458/esicm-lives-2016-part-one-milan-italy-1-5-october-2016
#16
L Bos, L Schouten, L van Vught, M Wiewel, D Ong, O Cremer, A Artigas, I Martin-Loeches, A Hoogendijk, T van der Poll, J Horn, N Juffermans, M Schultz, N de Prost, T Pham, G Carteaux, A Mekontso Dessap, C Brun-Buisson, E Fan, G Bellani, J Laffey, A Mercat, L Brochard, B Maitre, P A Howells, D R Thickett, C Knox, D P Park, F Gao, O Tucker, T Whitehouse, D F McAuley, G D Perkins, T Pham, J Laffey, G Bellani, E Fan, L Pisani, J P Roozeman, F D Simonis, A Giangregorio, L R Schouten, S M Van der Hoeven, J Horn, A Serpa Neto, E Festic, A M Dondorp, S Grasso, L D Bos, M J Schultz, M Koster-Brouwer, D Verboom, B Scicluna, K van de Groep, J Frencken, M Schultz, T van der Poll, M Bonten, O Cremer, J I Ko, K S Kim, G J Suh, W Y Kwon, K Kim, J H Shin, O T Ranzani, E Prina, R Menendez, A Ceccato, R Mendez, C Cilloniz, A Gabarrus, M Ferrer, A Torres, A Urbano, L A Zhang, D Swigon, F Pike, R S Parker, G Clermont, C Scheer, S O Kuhn, A Modler, M Vollmer, C Fuchs, K Hahnenkamp, S Rehberg, M Gründling, A Taggu, N Darang, N Öveges, I László, K Tánczos, M Németh, G Lebák, B Tudor, D Érces, J Kaszaki, W Huber, D Trásy, Z Molnár, G Ferrara, V S Kanoore Edul, H S Canales, E Martins, C Canullán, G Murias, M O Pozo, J F Caminos Eguillor, M G Buscetti, C Ince, A Dubin, H D Aya, A Rhodes, N Fletcher, R M Grounds, M Cecconi, M Jacquet-Lagrèze, M Riche, R Schweizer, P Portran, W Fornier, M Lilot, J Neidecker, J L Fellahi, A Escoresca-Ortega, A Gutiérrez-Pizarraya, L Charris-Castro, Y Corcia-Palomo, E Fernandez-Delgado, J Garnacho-Montero, C Roger, L Muller, L Elotmani, J Lipman, J Y Lefrant, J A Roberts, R Muñoz-Bermúdez, M Samper, C Climent, F Vasco, V Sara, S Luque, N Campillo, S Grau Cerrato, J R Masclans, F Alvarez-Lerma, S Carvalho Brugger, G Jimenez Jimenez, M Miralbés Torner, J Trujillano Cabello, B Balsera Garrido, X Nuvials Casals, F Barcenilla Gaite, M Vallverdú Vidal, M Palomar Martínez, V Gusarov, D Shilkin, M Dementienko, E Nesterova, N Lashenkova, A Kuzovlev, M Zamyatin, A Demoule, S Carreira, S Lavault, O Palancca, E Morawiec, J Mayaux, I Arnulf, T Similowski, B S Rasmussen, R G Maltesen, M Hanifa, S Pedersen, S R Kristensen, R Wimmer, M Panigada, G Li Bassi, O T Ranzani, T Kolobow, A Zanella, M Cressoni, L Berra, V Parrini, H Kandil, G Salati, S Livigni, A Amatu, A Andreotti, F Tagliaferri, G Moise, G Mercurio, A Costa, A Vezzani, S Lindau, J Babel, M Cavana, D Consonni, A Pesenti, L Gattinoni, A Torres, P Mansouri, F Zand, L Zahed, F Dehghanrad, M Bahrani, M Ghorbani, B Cambiaghi, O Moerer, T Mauri, N Kunze-Szikszay, C Ritter, A Pesenti, M Quintel, L M Vilander, M A Kaunisto, S T Vaara, V Pettilä, J L G Haitsma Mulier, S Rozemeijer, A M E Spoelstra-de Man, P E Elbers, P R Tuinman, M C de Waard, H M Oudemans-van Straaten, A M A Liberatore, R B Souza, A M C R P F Martins, J C F Vieira, I H J Koh, M Galindo Martínez, R Jiménez Sánchez, L Martínez Gascón, M D Rodríguez Mulero, A Ortín Freire, A Ojados Muñoz, S Rebollo Acebes, Á Fernández Martínez, S Moreno Aliaga, L Herrera Para, J Murcia Payá, F Rodríguez Mulero, P Guerci, Y Ince, P Heeman, B Ergin, C Ince, Z Uz, M Massey, Y Ince, R Papatella, E Bulent, P Guerci, F Toraman, C Ince, E R Longbottom, H D Torrance, H C Owen, C J Hinds, R M Pearse, M J O'Dywer, Z Trogrlic, M van der Jagt, H Lingsma, H H Ponssen, J F Schoonderbeek, F Schreiner, S J Verbrugge, S Duran, T van Achterberg, J Bakker, D A M P J Gommers, E Ista, A Krajčová, P Waldauf, F Duška, A Shah, N Roy, S McKechnie, C Doree, S Fisher, S J Stanworth, J F Jensen, D Overgaard, M H Bestle, D F Christensen, I Egerod, A Pivkina, V Gusarov, I Zhivotneva, N Pasko, M Zamyatin, J F Jensen, I Egerod, M H Bestle, D F Christensen, A Alklit, R L Hansen, H Knudsen, L B Grode, D Overgaard, M Hravnak, L Chen, A Dubrawski, G Clermont, M R Pinsky, S M Parry, L D Knight, B C Connolly, C E Baldwin, Z A Puthucheary, L Denehy, N Hart, P E Morris, J Mortimore, C L Granger, H I Jensen, R Piers, B Van den Bulcke, J Malmgren, V Metaxa, A K Reyners, M Darmon, K Rusinova, D Talmor, A P Meert, L Cancelliere, L Zubek, P Maia, A Michalsen, J Decruyenaere, E Kompanje, S Vanheule, E Azoulay, S Vansteelandt, D Benoit, B Van den Bulcke, R Piers, H I Jensen, J Malmgren, V Metaxa, A K Reyners, M Darmon, K Rusinova, D Talmor, A P Meert, L Cancelliere, L Zubek, P Maia, A Michalsen, J Decruyenaere, E Kompanje, S Vanheule, E Azoulay, S Vansteelandt, D Benoit, C Ryan, D Dawson, J Ball, K Noone, B Aisling, S Prudden, A Ntantana, D Matamis, S Savvidou, M Giannakou, M Gouva, G Nakos, V Koulouras, J Aron, G Lumley, D Milliken, K Dhadwal, B A McGrath, S J Lynch, B Bovento, G Sharpe, E Grainger, S Pieri-Davies, S Wallace, B McGrath, S J Lynch, B Bovento, E Grainger, S Pieri-Davies, G Sharpe, S Wallace, M Jung, J Cho, H Park, G Suh, O Kousha, J Paddle, L Gamrin Gripenberg, M Sundström Rehal, J Wernerman, O Rooyackers, H J de Grooth, W P Choo, A M Spoelstra-de Man, E L Swart, H M Oudemans-van Straaten, L Talan, G Güven, N D Altıntas, M Padar, G Uusvel, L Starkopf, J Starkopf, A Reintam Blaser, M S Kalaiselvan, A S Arunkumar, M K Renuka, R L Shivkumar, M Volbeda, D Ten Kate, M Hoekstra, J M van der Maaten, M W Nijsten, A Komaromi, O Rooyackers, J Wernerman, Å Norberg, M Smedberg, M Mori, L Pettersson, Å Norberg, O Rooyackers, J Wernerman, M Theodorakopoulou, T Christodoulopoulou, A Diamantakis, F Frantzeskaki, M Kontogiorgi, E Chrysanthopoulou, M Lygnos, C Diakaki, A Armaganidis, K Gundogan, E Dogan, R Coskun, S Muhtaroglu, M Sungur, T Ziegler, M Guven, A Kleyman, W Khaliq, D Andreas, M Singer, R Meierhans, R Schuepbach, I De Brito-Ashurst, F Zand, G Sabetian, R Nikandish, F Hagar, M Masjedi, B Maghsudi, A Vazin, M Ghorbani, E Asadpour, K C Kao, L C Chiu, C Y Hung, C H Chang, S H Li, H C Hu, S El Maraghi, M Ali, D Rageb, M Helmy, J Marin-Corral, C Vilà, J R Masclans, A Vàzquez, I Martín-Loeches, E Díaz, J C Yébenes, A Rodriguez, F Álvarez-Lerma, N Varga, A Cortina-Gutiérrez, L Dono, M Martínez-Martínez, C Maldonado, E Papiol, M Pérez-Carrasco, R Ferrer, K Nweze, B Morton, I Welters, M Houard, B Voisin, G Ledoux, S Six, E Jaillette, S Nseir, S Romdhani, R Bouneb, D Loghmari, N Ben Aicha, J Ayachi, K Meddeb, I Chouchène, A Khedher, M Boussarsar, K S Chan, W L Yu, J Marin-Corral, C Vilà, J R Masclans, J Nolla, L Vidaur, J Bonastre, B Suberbiola, J E Guerrero, A Rodriguez, N Ramon Coll, G Jiménez Jiménez, S Carvalho Brugger, J Codina Calero, B Balsera Garrido, M García, M Palomar Martínez, M Vallverdú Vidal, M C de la Torre, E Vendrell, E Palomera, E Güell, J C Yébenes, M Serra-Prat, J F Bermejo-Martín, J Almirall, E Tomas, A Escoval, F Froe, M H Vitoria Pereira, N Velez, E Viegas, E Filipe, C Groves, M Reay, L C Chiu, H C Hu, C Y Hung, C H Chang, S H Li, K C Kao, A Ballin, F Facchin, G Sartori, F Zarantonello, E Campello, C M Radu, S Rossi, C Ori, P Simioni, N Umei, I Shingo, A C Santos, C Candeias, I Moniz, R Marçal, Z Costa E Silva, J M Ribeiro, J F Georger, J P Ponthus, M Tchir, V Amilien, M Ayoub, E Barsam, G Martucci, G Panarello, F Tuzzolino, G Capitanio, V Ferrazza, T Carollo, L Giovanni, A Arcadipane, M López Sánchez, M A González-Gay, F J Llorca Díaz, M I Rubio López, E Zogheib, L Villeret, J Nader, M Bernasinski, P Besserve, T Caus, H Dupont, P Morimont, S Habran, R Hubert, T Desaive, F Blaffart, N Janssen, J Guiot, A Pironet, P Dauby, B Lambermont, F Zarantonello, A Ballin, F Facchin, G Sartori, E Campello, T Pettenuzzo, G Citton, S Rossi, P Simioni, C Ori, C Kirakli, O Ediboglu, S Ataman, M Yarici, F Tuksavul, S Keating, A Gibson, M Gilles, M Dunn, G Price, N Young, P Remeta, P Bishop, M D Fernández Zamora, J Muñoz-Bono, E Curiel-Balsera, E Aguilar-Alonso, R Hinojosa, A Gordillo-Brenes, J A Arboleda-Sánchez, I Skorniakov, D Vikulova, C Whiteley, O Shaikh, A Jones, M Ostermann, L Forni, M Scott, J Sahatjian, W Linde-Zwirble, D Hansell, P Laoveeravat, N Srisawat, M Kongwibulwut, S Peerapornrattana, N Suwachittanont, T O Wirotwan, P Chatkaew, P Saeyub, K Latthaprecha, K Tiranathanagul, S Eiam-Ong, J A Kellum, R E Berthelsen, A Perner, A E K Jensen, J U Jensen, M H Bestle, D J Gebhard, J Price, C E Kennedy, A Akcan-Arikan, A M A Liberatore, R B Souza, A M C R P F Martins, J C F Vieira, Y R Kang, M N Nakamae, I H J Koh, K Hamed, M M Khaled, R Aly Soliman, M Sherif Mokhtar, G Seller-Pérez, D Arias-Verdú, E Llopar-Valdor, I De-Diós-Chacón, G Quesada-García, M E Herrera-Gutierrez, R Hafes, G Carroll, P Doherty, C Wright, I G Guerra Vera, M Ralston, M L Gemmell, A MacKay, E Black, C Wright, R I Docking, R Appleton, M R Ralston, L Gemmell, R Appleton, C Wright, R I Docking, E Black, A Mackay, S Rozemeijer, J L G Haitsma Mulier, J G Röttgering, P W G Elbers, A M E Spoelstra-de Man, P R Tuinman, M C de Waard, H M Oudemans-van Straaten, N Mejeni, J Nsiala, A Kilembe, P Akilimali, G Thomas, I Egerod, A E Andersson, A M Fagerdahl, V Knudsen, K Meddeb, A Ben Cheikh, Y Hamdaoui, J Ayachi, A Guiga, N Fraj, S Romdhani, N Sma, R Bouneb, I Chouchene, A Khedher, N Bouafia, M Boussarsar, A Amirian, B Ziaian, M Masjedi, C Fleischmann, D O Thomas-Rueddel, A Schettler, D Schwarzkopf, A Stacke, K Reinhart, E Filipe, A Escoval, A Martins, P Sousa, N Velez, E Viegas, E Tomas, G Snell, R Matsa, T T S Paary, M S Kalaiselvan, A M Cavalheiro, L L Rocha, C S Vallone, A Tonilo, M D S Lobato, D T Malheiro, G Sussumo, N M Lucino, F Zand, V D Rosenthal, M Masjedi, G Sabetian, B Maghsudi, M Ghorbani, A Sanaei Dashti, A Yousefipour, J R Goodall, M Williamson, E Tant, N Thomas, C Balci, C Gonen, E Haftacı, H Gurarda, E Karaca, B Paldusová, I Zýková, D Šímová, S Houston, L D'Antona, J Lloyd, V Garnelo-Rey, M Sosic, V Sotosek-Tokmazic, J Kuharic, I Antoncic, S Dunatov, A Sustic, C T Chong, M Sim, T Lyovarin, F M Acosta Díaz, S Narbona Galdó, M Muñoz Garach, O Moreno Romero, A M Pérez Bailón, A Carranza Pinel, M Colmenero, A Gritsan, A Gazenkampf, E Korchagin, N Dovbish, R M Lee, M P P Lim, C T Chong, B C L Lim, J J See, R Assis, F Filipe, N Lopes, L Pessoa, T Pereira, N Catorze, M S Aydogan, C Aldasoro, P Marchio, A Jorda, M D Mauricio, S Guerra-Ojeda, M Gimeno-Raga, M Colque-Cano, A Bertomeu-Artecero, M Aldasoro, S L Valles, D Tonon, T Triglia, J C Martin, M C Alessi, N Bruder, P Garrigue, L Velly, S Spina, V Scaravilli, C Marzorati, E Colombo, D Savo, A Vargiolu, G Cavenaghi, G Citerio, A H V Andrade, P Bulgarelli, J A P Araujo, V Gonzalez, V A Souza, A Costa, C Massant, C A C Abreu Filho, R A Morbeck, L E Burgo, R van Groenendael, L T van Eijk, G P Leijte, B Koeneman, M Kox, P Pickkers, A García-de la Torre, M de la Torre-Prados, A Fernández-Porcel, C Rueda-Molina, P Nuevo-Ortega, T Tsvetanova-Spasova, E Cámara-Sola, A García-Alcántara, L Salido-Díaz, X Liao, T Feng, J Zhang, X Cao, Q Wu, Z Xie, H Li, Y Kang, M S Winkler, A Nierhaus, E Mudersbach, A Bauer, L Robbe, C Zahrte, E Schwedhelm, S Kluge, C Zöllner, B Morton, E Mitsi, S H Pennington, J Reine, A D Wright, R Parker, I D Welters, J D Blakey, G Rajam, E W Ades, D M Ferreira, D Wang, A Kadioglu, S B Gordon, R Koch, M Kox, J Rahamat-Langedoen, J Schloesser, M de Jonge, P Pickkers, J Bringue, R Guillamat-Prats, E Torrents, M L Martinez, M Camprubí-Rimblas, A Artigas, L Blanch, S Y Park, Y B Park, D K Song, S Shrestha, S H Park, Y Koh, M J Park, C W Hong, O Lesur, D Coquerel, X Sainsily, J Cote, T Söllradl, A Murza, L Dumont, R Dumaine, M Grandbois, P Sarret, E Marsault, D Salvail, M Auger-Messier, F Chagnon, M P Lauretta, E Greco, A Dyson, M Singer, S Preau, M Ambler, A Sigurta, S Saeed, M Singer, L Topcu Sarıca, N Zibandeh, D Genc, F Gul, T Akkoc, E Kombak, L Cinel, T Akkoc, I Cinel, S J Pollen, N Arulkumaran, M Singer, H D Torrance, E R Longbottom, G Warnes, C J Hinds, D J Pennington, K Brohi, M J O'Dwyer, H Y Kim, S Na, J Kim, Y F Chang, A Chao, P Y Shih, C T Lee, Y C Yeh, L W Chen, M Adriaanse, Z Trogrlic, E Ista, H Lingsma, W Rietdijk, H H Ponssen, J F Schoonderbeek, F Schreiner, S J Verbrugge, S Duran, D A M P J Gommers, M van der Jagt, S Funcke, S Sauerlaender, B Saugel, H Pinnschmidt, D A Reuter, R Nitzschke, S Perbet, C Biboulet, A Lenoire, D Bourdeaux, B Pereira, B Plaud, J E Bazin, V Sautou, A Mebazaa, J M Constantin, M Legrand, Y Boyko, P Jennum, M Nikolic, H Oerding, R Holst, P Toft, H K Nedergaard, T Haberlandt, H I Jensen, P Toft, S Park, S Kim, Y J Cho, Y J Lim, A Chan, S Tang, S L Nunes, S Forsberg, H Blomqvist, L Berggren, M Sörberg, T Sarapohja, C J Wickerts, J G M Hofhuis, L Rose, B Blackwood, E Akerman, J Mcgaughey, I Egerod, M Fossum, H Foss, E Georgiou, H J Graff, M Kalafati, R Sperlinga, A Schafer, A G Wojnicka, P E Spronk, F Zand, F Khalili, R Afshari, G Sabetian, M Masjedi, B Maghsudi, H Haddad Khodaei, S Javadpour, P Petramfar, S Nasimi, A Vazin, B Ziaian, H Tabei, A Gunther, J O Hansen, P Sackey, H Storm, J Bernhardsson, Ø Sundin, A Bjärtå, A Bienert, P Smuszkiewicz, P Wiczling, K Przybylowski, A Borsuk, I Trojanowska, J Matysiak, Z Kokot, M Paterska, E Grzeskowiak, A Messina, E Bonicolini, D Colombo, G Moro, S Romagnoli, A R De Gaudio, F Della Corte, S M Romano, J A Silversides, E Major, E E Mann, A J Ferguson, D F Mcauley, J C Marshall, B Blackwood, E Fan, J A Diaz-Rodriguez, R Silva-Medina, E Gomez-Sandoval, N Gomez-Gonzalez, R Soriano-Orozco, P L Gonzalez-Carrillo, M Hernández-Flores, K Pilarczyk, J Lubarksi, D Wendt, F Dusse, J Günter, B Huschens, E Demircioglu, H Jakob, A Palmaccio, A M Dell'Anna, D L Grieco, F Torrini, C Iaquaniello, F Bongiovanni, M Antonelli, L Toscani, D Antonakaki, D Bastoni, H D Aya, A Rhodes, M Cecconi, M Jozwiak, F Depret, J L Teboul, J Alphonsine, C Lai, C Richard, X Monnet, I László, G Demeter, N Öveges, K Tánczos, M Németh, D Trásy, I Kertmegi, D Érces, B Tudor, J Kaszaki, Z Molnár, A Hasanin, A Lotfy, A El-Adawy, H Nassar, S Mahmoud, A Abougabal, A Mukhtar, F Quinty, S Habchi, A Luzi, E Antok, G Hernandez, B Lara, L Enberg, M Ortega, P Leon, C Kripper, P Aguilera, E Kattan, J Bakker, W Huber, M Lehmann, S Sakka, B Bein, R M Schmid, J Preti, J Creteur, A Herpain, J Marc, E Zogheib, F Trojette, S Bar, L Kontar, D Titeca, J Richecoeur, B Gelee, N Verrier, R Mercier, E Lorne, J Maizel, H Dupont, M Slama, M E Abdelfattah, A Eladawy, M A Ali Elsayed, A Mukhtar, A Pedraza Montenegro, E Monares Zepeda, J Franco Granillo, J S Aguirre Sánchez, G Camarena Alejo, A Rugerio Cabrera, A A Tanaka Montoya, C Lee, F Hatib, M Cannesson, P Theerawit, T Morasert, Y Sutherasan, G Zani, S Mescolini, M Diamanti, R Righetti, A Scaramuzza, M Papetti, M Terenzoni, C Gecele, M Fusari, K A Hakim, A Chaari, M Ismail, A H Elsaka, T M Mahmoud, K Bousselmi, V Kauts, W F Casey, S D Hutchings, D Naumann, J Wendon, S Watts, E Kirkman, Z Jian, S Buddi, C Lee, J Settels, F Hatib, M R Pinsky, P Bertini, F Guarracino, C Trepte, P Richter, S A Haas, V Eichhorn, J C Kubitz, D A Reuter, M S Soliman, W I Hamimy, A Z Fouad, A M Mukhtar, M Charlton, L Tonks, L Mclelland, T J Coats, J P Thompson, M R Sims, D Williams, D Z Roushdy, R A Soliman, R A Nahas, M Y Arafa, W T Hung, C C Chiang, W C Huang, K C Lin, S C Lin, C C Cheng, P L Kang, S R Wann, G Y Mar, C P Liu, M Lopez Carranza, H Sancho Fernandez, J A Sanchez Roman, F Lucena, A Campanario Garcia, A Loza Vazquez, A Lesmes Serrano, L Sayagues Moreira, R Vidal-Perez, U Anido Herranz, J M Garcia Acuna, C Pena Gil, J L Garcia Allut, P Rascado Sedes, C Martin Lopez, E Saborido Paz, C Galban Rodriguez, J R Gonzalez-Juanatey, A Vallejo-Baez, M V de la Torre-Prados, P Nuevo-Ortega, A Fernández-Porcel, E Cámara-Sola, T Tsvetanova-Spasova, C Rueda-Molina, L Salido-Díaz, A García-Alcántara, J Aron, R Marharaj, K Gervasio, M Bottiroli, M Mondino, D De Caria, A Calini, E Montrasio, F Milazzo, M P Gagliardone, A Vallejo-Báez, M V de la Torre-Prados, P Nuevo-Ortega, A Fernández-Porcel, E Cámara-Sola, T Tsvetanova-Spasova, C Rueda-Molina, L Salido-Díaz, A García-Alcántara, L Sayagues Moreira, R Vidal-Perez, U Anido, C Pena Gil, J M Garcia Acuna, P Rascado Sedes, C Martin Lopez, E Saborido Paz, J L Garcia Allut, C Galban Rodriguez, J R Gonzalez-Juanatey, Y Hamdaoui, A Khedher, M Cheikh-Bouhlel, J Ayachi, K Meddeb, N Sma, N Fraj, N Ben Aicha, S Romdhani, R Bouneb, I Chouchene, M Boussarsar, M P R D L Dela Cruz, J M Bernardo, F Galfo, A Dyson, M Singer, A Marino, A Dyson, M Singer, C C Chao, P Hou, W C Huang, C C Hung, C H Chiang, W T Hung, K C Lin, S C Lin, Y J Liou, S M Hung, Y S Lin, C C Cheng, F Y Kuo, K R Chiou, C J Chen, L S Yan, C Y Liu, H H Wang, P L Kang, H L Chen, C K Ho, G Y Mar, C P Liu, S Grewal, S Gopal, C Corbett, A Wilson, J Capps, W Ayoub, A Lomas, S Ghani, J Moore, D Atkinson, M Sharman, W Swinnen, J Pauwels, K Mignolet, E Pannier, A Koch, T Sarens, W Temmerman, A M Elmenshawy, A M Fayed, M Elboriuny, E Hamdy, E Zakaria, A C Falk, A Petosic, K Olafsen, H Wøien, H Flaatten, K Sunde, J J Cáceres Agra, J L Santana Cabrera, J D Martín Santana, L Melián Alzola, H Rodríguez Pérez, T Castro Pires, H Calderón, A Pereira, S Castro, C Granja, I Norkiene, I Urbanaviciute, G Kezyte, D Ringaitiene, T Jovaisa, G Vogel, U B Johansson, A Sandgren, C Svensen, E Joelsson-Alm, M A Leite, L D Murbach, E F Osaku, C R L M Costa, M Pelenz, N M Neitzke, M M Moraes, J L Jaskowiak, M M M Silva, R S Zaponi, L R L Abentroth, S M Ogasawara, A C Jorge, P A D Duarte, L D Murbach, M A Leite, E F Osaku, J Barreto, S T Duarte, S Taba, D Miglioranza, D P Gund, C F Lordani, C R L M Costa, S M Ogasawara, A C Jorge, P A D Duarte, H Vollmer, M Gager, C Waldmann, A T Mazzeo, R Tesio, C Filippini, M E Vallero, C Giolitti, S Caccia, M Medugno, T Tenaglia, R Rosato, I Mastromauro, L Brazzi, P P Terragni, R Urbino, V Fanelli, V M Ranieri, L Mascia, J Ballantyne, L Paton, A Mackay, P Perez-Teran, O Roca, J C Ruiz-Rodriguez, A Zapatero, J Serra, J R Masclans, S Bianzina, P Cornara, G Rodi, G Tavazzi, M Pozzi, G A Iotti, F Mojoli, A Braschi, A Vishnu, D Buche, R Pande, D L J Moolenaar, F Bakhshi-Raiez, D A Dongelmans, N F de Keizer, D W de Lange, I Fuentes Fernández, D Martínez Baño, J L Buendía Moreno, R Jara Rubio, J Scott, D Phelan, D Morely, J O'Flynn, P Stapleton, M Lynch, B Marsh, E Carton, C O'Loughlin, K C Cheng, M I Sung, M O Elghonemi, M H Saleh, T S Meyhoff, M Krag, P B Hjortrup, A Perner, M H Møller, T Öhman, T Sigmundsson, E Redondo, M Hallbäck, F Suarez-Sipmann, H Björne, C Hällsjö Sander, M Cressoni, D Chiumello, C Chiurazzi, M Brioni, I Algieri, M Guanziroli, G Vergani, T Tonetti, I Tomic, A Colombo, F Crimella, E Carlesso, A Colombo, V Gasparovic, L Gattinoni, R El-Sherif, M Abd Al-Basser, A Raafat, A El-Sherif, F D Simonis, L R A Schouten, O L Cremer, D S Y Ong, G Amoruso, G Cinnella, M J Schultz, L D J Bos, W Huber, P Schmidle, M Findeisen, P Hoppmann, J Jaitner, F Brettner, R M Schmid, T Lahmer, E Festic, G Rajagopalan, V Bansal, R Frank, R Hinds, J Levitt, S Siddiqui, J P Gilbert, K Sim, C H Wang, H C Hu, I J Li, W R Tang, K C Kao, P Persona, A De Cassai, M Franco, F Facchin, C Ori, S Rossi, A Goffi, S H Li, H C Hu, L C Chiu, C Y Hung, C H Chang, K C Kao, B Llorente Ruiz, J Lujan Varas, R Molina Montero, C Pintado Delgado, O Navarrete, M Vazquez Mezquita, E Alonso Peces, M A M Nakamura, L A Hajjar, F R B G Galas, T A Ortiz, M B P Amato, L Bitker, N Costes, D Le Bars, F Lavenne, D Mojgan, J C Richard, C Chiurazzi, M Cressoni, D Massari, M Guanziroli, G Vergani, M Gotti, M Brioni, I Algieri, P Cadringher, T Tonetti, D Chiumello, L Gattinoni, A Zerman, M Türkoğlu, G Arık, F Yıldırım, Z Güllü, I Kara, N Boyacı, B Basarık Aydoğan, Ü Gaygısız, K Gönderen, G Aygencel, M Aydoğdu, Z Ülger, G Gürsel, J Riera, C Maldonado Toral, C Mazo, M Martínez, J Baldirà, L Lagunes, A Roman, M Deu, J Rello, D J Levine, R M Mohus, Å Askim, J Paulsen, A Mehl, A T Dewan, J K Damås, E Solligård, B O Åsvold, J Paulsen, Å Askim, R M Mohus, A Mehl, A DeWan, E Solligård, J K Damås, B O Åsvold, O Aktepe, A Kara, H Yeter, A Topeli, M Norrenberg, M Devroey, H Khader, J C Preiser, Z Tang, C Qiu, L Tong, C Cai, M Theodorakopoulou, A Diamantakis, M Kontogiorgi, E Chrysanthopoulou, T Christodoulopoulou, F Frantzeskaki, M Lygnos, O Apostolopoulou, A Armaganidis, J Y Moon, M R Park, I S Kwon, G R Chon, J Y Ahn, S J Kwon, Y J Chang, J Y Lee, S Y Yoon, J W Lee, M Kostalas, J Mckinlay, G Kooner, G Dudas, A Horton, C Kerr, N Karanjia, B Creagh-Brown, N D Altintas, S Izdes, O Keremoglu, A Alkan, S Neselioglu, O Erel, N Tardif, T Gustafsson, O Rooyackers, K N MacEachern, M Traille, I Bromberg, S E Lapinsky, M J Moore, Z Tang, C Cai, L Tong, J L García-Garmendia, F Villarrasa-Clemente, F Maroto-Monserrat, O Rufo-Tejeiro, V Jorge-Amigo, M Sánchez-Santamaría, C Colón-Pallarés, A Barrero-Almodóvar, S Gallego-Lara, C T Anthon, R B Müller, N Haase, K Møller, P B Hjortrup, J Wetterslev, A Perner, M Nakanishi, A Kuriyama, T Fukuoka, M A Abd El Halim, M H Elsaid Hafez, A M Moktar, A Eladawy, H M Elazizy, K Abdel Hakim, A Chaari, M Elbahr, M Ismail, T Mahmoud, V Kauts, K Bousselmi, E Khalil, W Casey, S H Zaky, A Rizk, M O Elghonemi, R Ahmed, J C F Vieira, R B Souza, A M A Liberatore, I H J Koh, G A Ospina-Tascón, A F Garcia Marin, G J Echeverry, W F Bermudez, H J Madriñan-Navia, J D Valencia, E Quiñonez, A Marulanda, C A Arango-Dávila, A Bruhn, G Hernandez, D De Backer, D Orbegozo Cortes, F Su, J L Vincent, J Creteur, L Tullo, L Mirabella, P Di Molfetta, G Cinnella, M Dambrosio, C Villavicencio Lujan, J Leache Irigoyen, M Cartanya Ferré, R Carbonell García, A Mukhtar, M Ahmed, M El Ayashi, A Hasanin, E Ayman, M Salem, A Eladawy, S Fathy, H Nassar, A Zaghlol, M F Aguilar Arzapalo, Å Valsø, K Sunde, T Rustøen, I Schou-Bredal, L Skogstad, K Tøien, C Padilla, Y Palmeiro, W Egbaria, R Kigli, B Maertens, K Blot, S Blot, E Santana-Santos, E R Dos Santos, R E D L Ferretti-Rebustini, R D C C D O Dos Santos, R G S Verardino, L A Bortolotto, A M Doyle, I Naldrett, J Tillman, S Price, S Shrestha, P Pearson, J Greaves, D Goodall, A Berry, A Richardson, G O Odundo, P Omengo, P Obonyo, N M Chanzu, R Kleinpell, S J Sarris, P Nedved, M Heitschmidt, H Ben-Ghezala, S Snouda, S Djobbi, H Ben-Ghezala, S Snouda, L Rose, N K J Adhikari, D Leasa, D Fergusson, D A Mckim, J Weblin, O Tucker, D McWilliams, F Doesburg, F Cnossen, W Dieperink, W Bult, M W N Nijsten, G A Galvez-Blanco, E Monares Zepeda, C I Olvera Guzman, J S Aguirre Sánchez, J Franco Granillo, J Santos Stroud, R Thomson, M Llaurado-Serra, A Lobo-Civico, M Pi-Guerrero, I Blanco-Sanchez, A Piñol-Tena, C Paños-Espinosa, Y Alabart-Segura, B Coloma-Gomez, A Fernandez-Blanco, F Braga-Dias, M Treso-Geira, A Valeiras-Valero, L Martinez-Reyes, A Sandiumenge, M F Jimenez-Herrera, R Prada, P Juárez, R Argandoña, J J Díaz, C Sánchez Ramirez, P Saavedra, S Ruiz Santana, O Obukhova, S Kashiya, I A Kurmukov, A M Pronina, P Simeone, L Puybasset, G Auzias, O Coulon, B Lesimple, G Torkomian, L Velly, A Bienert, A Bartkowska-Sniatkowska, P Wiczling, O Szerkus, D Siluk, J Bartkowiak-Wieczorek, J Rosada-Kurasinska, J Warzybok, A Borsuk, R Kaliszan, E Grzeskowiak, C Hernandez Caballero, S Roberts, G Isgro, D Hall, G Guillaume, O Passouant, F Dumas, W Bougouin, B Champigneulle, M Arnaout, J Chelly, J D Chiche, O Varenne, J P Mira, E Marijon, A Cariou, M Beerepoot, H R Touw, K Parlevliet, C Boer, P W Elbers, P R Tuinman, Á J Roldán Reina, Y Corcia Palomo, R Martín Bermúdez, L Martín Villén, I Palacios García, J R Naranjo Izurieta, J B Pérez Bernal, F J Jiménez Jiménez, F Cota-Delgado, M V de la Torre-Prados, A Fernández-Porcel, P Nuevo-Ortega, E Cámara-Sola, T Tsvetanova-Spasova, C Rueda-Molina, L Salido-Díaz, A García-Alcántara, T Kaneko, H Tanaka, M Kamikawa, R Karashima, S Iwashita, H Irie, S Kasaoka, O Arola, R Laitio, A Saraste, J Airaksinen, M Pietilä, M Hynninen, J Wennervirta, M Bäcklund, E Ylikoski, P Silvasti, E Nukarinen, J Grönlund, V P Harjola, J Niiranen, K Korpi, M Varpula, R O Roine, T Laitio, S Salah, B G Hassen, A Mohamed Fehmi, S Kim, Y C Hsu, J Barea-Mendoza, C García-Fuentes, M Castillo-Jaramillo, H Dominguez-Aguado, R Viejo-Moreno, L Terceros-Almanza, S Bermejo Aznárez, C Mudarra-Reche, W Xu, M Chico-Fernández, J C 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Morales Laborías, J Cho, J Kim, J Park, S Woo, T West, E Powell, A Rimmer, C Orford, N Jones, J Williams, C I Bernal Matilla, P Ruiz de Gopegui Miguelena, P Sánchez Chueca, R Ramos Abril, M D C Rodríguez Longares, A L Ruíz Aguilar, R Garrido López de Murillas, R S Bourne, R Shulman, M Tomlin, G H Mills, M Borthwick, W Berry, D García Huertas, F Manzano, F Villagrán-Ramírez, A Ruiz-Perea, C Rodríguez-Mejías, F Santiago-Ruiz, M Colmenero-Ruiz, C König, B Matt, A Kortgen, C S Hartog, A Wong, C Balan, G Barker, N Srisawat, S Peerapornratana, P Laoveeravat, S Tachaboon, S Eiam-Ong, J Paratz, G Kayambu, R Boots, M F Aguilar Arzapalo, R Vlasenko, E Gromova, S Loginov, M Kiselevskiy, Y Dolgikova, K B Tang, C M Chau, K N Lam, E Gil, G Y Suh, C M Park, J Park, C R Chung, C T Lee, A Chao, P Y Shih, Y F Chang, C H Lai, Y C Hsu, Y C Yeh, Y J Cheng, V Colella, N Zarrillo, M D'Amico, F Forfori, B Pezza, T Laddomada, V Beltramelli, M L Pizzaballa, A Doronzio, B Balicco, D Kiers, W van der Heijden, J Gerretsen, Q de Mast, S El Messaoudi, G Rongen, M Gomes, M Kox, P Pickkers, N P Riksen, Y Kashiwagi, M Okada, K Hayashi, Y Inagaki, S Fujita, M N Nakamae, Y R Kang, R B Souza, A M A Liberatore, I H J Koh, A Blet, M Sadoune, J Lemarié, N Bihry, R Bern, E Polidano, R Merval, J M Launay, B Lévy, J L Samuel, A Mebazaa, J Hartmann, S Harm, V Weber
No abstract text is available yet for this article.
September 2016: Intensive Care Medicine Experimental
https://www.readbyqxmd.com/read/27625337/combination-of-whole-genome-sequencing-linkage-and-functional-studies-implicates-a-missense-mutation-in-titin-as-a-cause-of-autosomal-dominant-cardiomyopathy-with-features-of-left-ventricular-noncompaction
#17
Robert Hastings, Carin P de Villiers, Charlotte Hooper, Liz Ormondroyd, Alistair Pagnamenta, Stefano Lise, Silvia Salatino, Samantha J L Knight, Jenny C Taylor, Kate L Thomson, Linda Arnold, Spyros D Chatziefthimiou, Petr V Konarev, Matthias Wilmanns, Elisabeth Ehler, Andrea Ghisleni, Mathias Gautel, Edward Blair, Hugh Watkins, Katja Gehmlich
BACKGROUND: High throughput next-generation sequencing techniques have made whole genome sequencing accessible in clinical practice; however, the abundance of variation in the human genomes makes the identification of a disease-causing mutation on a background of benign rare variants challenging. METHODS AND RESULTS: Here we combine whole genome sequencing with linkage analysis in a 3-generation family affected by cardiomyopathy with features of autosomal dominant left ventricular noncompaction cardiomyopathy...
October 2016: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/27618436/the-9aatad-transactivation-domains-from-gal4-to-p53
#18
Martin Piskacek, Marek Havelka, Martina Rezacova, Andrea Knight
The family of the Nine amino acid Transactivation Domain, 9aaTAD family, comprises currently over 40 members. The 9aaTAD domains are universally recognized by the transcriptional machinery from yeast to man. We had identified the 9aaTAD domains in the p53, Msn2, Pdr1 and B42 activators by our prediction algorithm. In this study, their competence to activate transcription as small peptides was proven. Not surprisingly, we elicited immense 9aaTAD divergence in hundreds of identified orthologs and numerous examples of the 9aaTAD species' convergence...
2016: PloS One
https://www.readbyqxmd.com/read/27595995/palb2-chek2-and-atm-rare-variants-and-cancer-risk-data-from-cogs
#19
Melissa C Southey, David E Goldgar, Robert Winqvist, Katri Pylkäs, Fergus Couch, Marc Tischkowitz, William D Foulkes, Joe Dennis, Kyriaki Michailidou, Elizabeth J van Rensburg, Tuomas Heikkinen, Heli Nevanlinna, John L Hopper, Thilo Dörk, Kathleen Bm Claes, Jorge Reis-Filho, Zhi Ling Teo, Paolo Radice, Irene Catucci, Paolo Peterlongo, Helen Tsimiklis, Fabrice A Odefrey, James G Dowty, Marjanka K Schmidt, Annegien Broeks, Frans B Hogervorst, Senno Verhoef, Jane Carpenter, Christine Clarke, Rodney J Scott, Peter A Fasching, Lothar Haeberle, Arif B Ekici, Matthias W Beckmann, Julian Peto, Isabel Dos-Santos-Silva, Olivia Fletcher, Nichola Johnson, Manjeet K Bolla, Elinor J Sawyer, Ian Tomlinson, Michael J Kerin, Nicola Miller, Federik Marme, Barbara Burwinkel, Rongxi Yang, Pascal Guénel, Thérèse Truong, Florence Menegaux, Marie Sanchez, Stig Bojesen, Sune F Nielsen, Henrik Flyger, Javier Benitez, M Pilar Zamora, Jose Ignacio Arias Perez, Primitiva Menéndez, Hoda Anton-Culver, Susan Neuhausen, Argyrios Ziogas, Christina A Clarke, Hermann Brenner, Volker Arndt, Christa Stegmaier, Hiltrud Brauch, Thomas Brüning, Yon-Dschun Ko, Taru A Muranen, Kristiina Aittomäki, Carl Blomqvist, Natalia V Bogdanova, Natalia N Antonenkova, Annika Lindblom, Sara Margolin, Arto Mannermaa, Vesa Kataja, Veli-Matti Kosma, Jaana M Hartikainen, Amanda B Spurdle, kConFab Investigators, Els Wauters, Dominiek Smeets, Benoit Beuselinck, Giuseppe Floris, Jenny Chang-Claude, Anja Rudolph, Petra Seibold, Dieter Flesch-Janys, Janet E Olson, Celine Vachon, Vernon S Pankratz, Catriona McLean, Christopher A Haiman, Brian E Henderson, Fredrick Schumacher, Loic Le Marchand, Vessela Kristensen, Grethe Grenaker Alnæs, Wei Zheng, David J Hunter, Sara Lindstrom, Susan E Hankinson, Peter Kraft, Irene Andrulis, Julia A Knight, Gord Glendon, Anna Marie Mulligan, Arja Jukkola-Vuorinen, Mervi Grip, Saila Kauppila, Peter Devilee, Robert A E M Tollenaar, Caroline Seynaeve, Antoinette Hollestelle, Montserrat Garcia-Closas, Jonine Figueroa, Stephen J Chanock, Jolanta Lissowska, Kamila Czene, Hatef Darabi, Mikael Eriksson, Diana M Eccles, Sajjad Rafiq, William J Tapper, Sue M Gerty, Maartje J Hooning, John W M Martens, J Margriet Collée, Madeleine Tilanus-Linthorst, Per Hall, Jingmei Li, Judith S Brand, Keith Humphreys, Angela Cox, Malcolm W R Reed, Craig Luccarini, Caroline Baynes, Alison M Dunning, Ute Hamann, Diana Torres, Hans Ulrich Ulmer, Thomas Rüdiger, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska, Katarzyna Durda, Susan Slager, Amanda E Toland, Christine B Ambrosone, Drakoulis Yannoukakos, Anthony Swerdlow, Alan Ashworth, Nick Orr, Michael Jones, Anna González-Neira, Guillermo Pita, M Rosario Alonso, Nuria Álvarez, Daniel Herrero, Daniel C Tessier, Daniel Vincent, Francois Bacot, Jacques Simard, Martine Dumont, Penny Soucy, Rosalind Eeles, Kenneth Muir, Fredrik Wiklund, Henrik Gronberg, Johanna Schleutker, Børge G Nordestgaard, Maren Weischer, Ruth C Travis, David Neal, Jenny L Donovan, Freddie C Hamdy, Kay-Tee Khaw, Janet L Stanford, William J Blot, Stephen Thibodeau, Daniel J Schaid, Joseph L Kelley, Christiane Maier, Adam S Kibel, Cezary Cybulski, Lisa Cannon-Albright, Katja Butterbach, Jong Park, Radka Kaneva, Jyotsna Batra, Manuel R Teixeira, Zsofia Kote-Jarai, Ali Amin Al Olama, Sara Benlloch, Stefan P Renner, Arndt Hartmann, Alexander Hein, Matthias Ruebner, Diether Lambrechts, Els Van Nieuwenhuysen, Ignace Vergote, Sandrina Lambretchs, Jennifer A Doherty, Mary Anne Rossing, Stefan Nickels, Ursula Eilber, Shan Wang-Gohrke, Kunle Odunsi, Lara E Sucheston-Campbell, Grace Friel, Galina Lurie, Jeffrey L Killeen, Lynne R Wilkens, Marc T Goodman, Ingo Runnebaum, Peter A Hillemanns, Liisa M Pelttari, Ralf Butzow, Francesmary Modugno, Robert P Edwards, Roberta B Ness, Kirsten B Moysich, Andreas du Bois, Florian Heitz, Philipp Harter, Stefan Kommoss, Beth Y Karlan, Christine Walsh, Jenny Lester, Allan Jensen, Susanne Krüger Kjaer, Estrid Høgdall, Bernard Peissel, Bernardo Bonanni, Loris Bernard, Ellen L Goode, Brooke L Fridley, Robert A Vierkant, Julie M Cunningham, Melissa C Larson, Zachary C Fogarty, Kimberly R Kalli, Dong Liang, Karen H Lu, Michelle A T Hildebrandt, Xifeng Wu, Douglas A Levine, Fanny Dao, Maria Bisogna, Andrew Berchuck, Edwin S Iversen, Jeffrey R Marks, Lucy Akushevich, Daniel W Cramer, Joellen Schildkraut, Kathryn L Terry, Elizabeth M Poole, Meir Stampfer, Shelley S Tworoger, Elisa V Bandera, Irene Orlow, Sara H Olson, Line Bjorge, Helga B Salvesen, Anne M van Altena, Katja K H Aben, Lambertus A Kiemeney, Leon F A G Massuger, Tanja Pejovic, Yukie Bean, Angela Brooks-Wilson, Linda E Kelemen, Linda S Cook, Nhu D Le, Bohdan Górski, Jacek Gronwald, Janusz Menkiszak, Claus K Høgdall, Lene Lundvall, Lotte Nedergaard, Svend Aage Engelholm, Ed Dicks, Jonathan Tyrer, Ian Campbell, Iain McNeish, James Paul, Nadeem Siddiqui, Rosalind Glasspool, Alice S Whittemore, Joseph H Rothstein, Valerie McGuire, Weiva Sieh, Hui Cai, Xiao-Ou Shu, Rachel T Teten, Rebecca Sutphen, John R McLaughlin, Steven A Narod, Catherine M Phelan, Alvaro N Monteiro, David Fenstermacher, Hui-Yi Lin, Jennifer B Permuth, Thomas A Sellers, Y Ann Chen, Ya-Yu Tsai, Zhihua Chen, Aleksandra Gentry-Maharaj, Simon A Gayther, Susan J Ramus, Usha Menon, Anna H Wu, Celeste L Pearce, David Van Den Berg, Malcolm C Pike, Agnieszka Dansonka-Mieszkowska, Joanna Plisiecka-Halasa, Joanna Moes-Sosnowska, Jolanta Kupryjanczyk, Paul Dp Pharoah, Honglin Song, Ingrid Winship, Georgia Chenevix-Trench, Graham G Giles, Sean V Tavtigian, Doug F Easton, Roger L Milne
BACKGROUND: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study. METHODS: We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c...
December 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27527649/current-status-and-recommendations-for-biomarkers-and-biobanking-in-neurofibromatosis
#20
C Oliver Hanemann, Jaishri O Blakeley, Fabio P Nunes, Kent Robertson, Anat Stemmer-Rachamimov, Victor Mautner, Andreas Kurtz, Michael Ferguson, Brigitte C Widemann, D Gareth Evans, Rosalie Ferner, Steven L Carroll, Bruce Korf, Pierre Wolkenstein, Pamela Knight, Scott R Plotkin
OBJECTIVE: Clinically validated biomarkers for neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and schwannomatosis (SWN) have not been identified to date. The biomarker working group's goals are to (1) define biomarker needs in NF1, NF2, and SWN; (2) summarize existing data on biomarkers in NF1, NF2, and SWN; (3) outline recommendations for sample collection and biomarker development; and (4) standardize sample collection and methodology protocols where possible to promote comparison between studies by publishing standard operating procedures (SOPs)...
August 16, 2016: Neurology
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