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Christopher fletcher

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https://www.readbyqxmd.com/read/27918775/association-between-myopia-ultraviolet-b-radiation-exposure-serum-vitamin-d-concentrations-and-genetic-polymorphisms-in-vitamin-d-metabolic-pathways-in-a-multicountry-european-study
#1
Katie M Williams, Graham C G Bentham, Ian S Young, Ann McGinty, Gareth J McKay, Ruth Hogg, Christopher J Hammond, Usha Chakravarthy, Mati Rahu, Johan Seland, Gisele Soubrane, Laura Tomazzoli, Fotis Topouzis, Astrid E Fletcher
Importance: Myopia is becoming increasingly common globally and is associated with potentially sight-threatening complications. Spending time outdoors is protective, but the mechanism underlying this association is poorly understood. Objective: To examine the association of myopia with ultraviolet B radiation (UVB; directly associated with time outdoors and sunlight exposure), serum vitamin D concentrations, and vitamin D pathway genetic variants, adjusting for years in education...
December 1, 2016: JAMA Ophthalmology
https://www.readbyqxmd.com/read/27879515/atypical-spindle-cell-lipomatous-tumor-clinicopathologic-characterization-of-232-cases-demonstrating-a-morphologic-spectrum
#2
Adrian Mariño-Enriquez, Alessandra F Nascimento, Azra H Ligon, Cherwei Liang, Christopher D M Fletcher
The classification of atypical adipocytic neoplasms with spindle cell features remains challenging. To better define this category of low-grade lipomatous neoplasms, we present herein the clinical, histologic, and immunohistochemical characteristics of a large series of 232 atypical spindle cell lipomatous tumors. The lesions affected 140 males and 92 females, at an average age of 54 years (range, 6 to 87 y), clinically presenting as a persistent or enlarging mass with a median size of 5 cm. The anatomic distribution of the tumors was wide, predominating in the limbs and limb girdles (147 cases, 63%), mainly in the hands and feet (17% and 11%, respectively), with equal distribution between subcutaneous and deeper locations...
November 22, 2016: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27803999/use-of-an-extended-inr-follow-up-interval-for-veteran-patients-in-an-anticoagulation-clinic
#3
Andrea L Porter, Amanda R Margolis, Rebecca R Schoen, Carla E Staresinic, Cheryl A Ray, Christopher D Fletcher
A prospective, single-arm study of 50 participants evaluated an extended INR follow-up interval to determine the implementation feasibility and safety of an extended interval in Veterans on a stable dose of warfarin. A protocol was designed to allow for a rigorous, yet pragmatic evaluation of a 12-week INR follow-up interval. Feasibility was determined by study enrollment, retention, and participant achievement rates for the extended INR interval. Safety was determined by bleeding and thromboembolism rates...
November 1, 2016: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/27800551/open-source-drug-discovery-highly-potent-antimalarial-compounds-derived-from-the-tres-cantos-arylpyrroles
#4
Alice E Williamson, Paul M Ylioja, Murray N Robertson, Yevgeniya Antonova-Koch, Vicky Avery, Jonathan B Baell, Harikrishna Batchu, Sanjay Batra, Jeremy N Burrows, Soumya Bhattacharyya, Felix Calderon, Susan A Charman, Julie Clark, Benigno Crespo, Matin Dean, Stefan L Debbert, Michael Delves, Adelaide S M Dennis, Frederik Deroose, Sandra Duffy, Sabine Fletcher, Guri Giaever, Irene Hallyburton, Francisco-Javier Gamo, Marinella Gebbia, R Kiplin Guy, Zoe Hungerford, Kiaran Kirk, Maria J Lafuente-Monasterio, Anna Lee, Stephan Meister, Corey Nislow, John P Overington, George Papadatos, Luc Patiny, James Pham, Stuart A Ralph, Andrea Ruecker, Eileen Ryan, Christopher Southan, Kumkum Srivastava, Chris Swain, Matthew J Tarnowski, Patrick Thomson, Peter Turner, Iain M Wallace, Timothy N C Wells, Karen White, Laura White, Paul Willis, Elizabeth A Winzeler, Sergio Wittlin, Matthew H Todd
The development of new antimalarial compounds remains a pivotal part of the strategy for malaria elimination. Recent large-scale phenotypic screens have provided a wealth of potential starting points for hit-to-lead campaigns. One such public set is explored, employing an open source research mechanism in which all data and ideas were shared in real time, anyone was able to participate, and patents were not sought. One chemical subseries was found to exhibit oral activity but contained a labile ester that could not be replaced without loss of activity, and the original hit exhibited remarkable sensitivity to minor structural change...
October 26, 2016: ACS Central Science
https://www.readbyqxmd.com/read/27755742/counteracting-effects-of-a-non-native-prey-on-the-demography-of-a-native-predator-culminate-in-positive-population-growth
#5
Christopher E Cattau, Robert J Fletcher, Brian E Reichert, Wiley M Kitchens
Identifying impacts of non-native species on native populations is central to conservation and ecology. While effects of non-native predators on native prey populations have recently received much attention, impacts of introduced prey on native predator populations are less understood. Non-native prey can influence predator behavior and demography through direct and indirect pathways, yet quantitative assessments of the relative impacts of multiple, potentially counteracting, effects on native predator population growth remain scarce...
October 2016: Ecological Applications: a Publication of the Ecological Society of America
https://www.readbyqxmd.com/read/27733431/optimization-and-reproducibility-of-aortic-valve-18f-fluoride-positron-emission-tomography-in-patients-with-aortic-stenosis
#6
Tania A Pawade, Timothy R G Cartlidge, William S A Jenkins, Philip D Adamson, Phillip Robson, Christophe Lucatelli, Edwin J R Van Beek, Bernard Prendergast, Alan R Denison, Laura Forsyth, James H F Rudd, Zahi A Fayad, Alison Fletcher, Sharon Tuck, David E Newby, Marc R Dweck
BACKGROUND: 18F-Fluoride positron emission tomography (PET) and computed tomography (CT) can measure disease activity and progression in aortic stenosis. Our objectives were to optimize the methodology, analysis, and scan-rescan reproducibility of aortic valve 18F-fluoride PET-CT imaging. METHODS AND RESULTS: Fifteen patients with aortic stenosis underwent repeated 18F-fluoride PET-CT. We compared nongated PET and noncontrast CT, with a modified approach that incorporated contrast CT and ECG-gated PET...
October 2016: Circulation. Cardiovascular Imaging
https://www.readbyqxmd.com/read/27733426/effectiveness-of-screening-colonoscopy-in-reducing-the-risk-of-death-from-right-and-left-colon-cancer-a-large-community-based-study
#7
Chyke A Doubeni, Douglas A Corley, Virginia P Quinn, Christopher D Jensen, Ann G Zauber, Michael Goodman, Jill R Johnson, Shivan J Mehta, Tracy A Becerra, Wei K Zhao, Joanne Schottinger, V Paul Doria-Rose, Theodore R Levin, Noel S Weiss, Robert H Fletcher
OBJECTIVE: Screening colonoscopy's effectiveness in reducing colorectal cancer mortality risk in community populations is unclear, particularly for right-colon cancers, leading to recommendations against its use for screening in some countries. This study aimed to determine whether, among average-risk people, receipt of screening colonoscopy reduces the risk of dying from both right-colon and left-colon/rectal cancers. DESIGN: We conducted a nested case-control study with incidence-density matching in screening-eligible Kaiser Permanente members...
October 12, 2016: Gut
https://www.readbyqxmd.com/read/27686458/esicm-lives-2016-part-one-milan-italy-1-5-october-2016
#8
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 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September 2016: Intensive Care Medicine Experimental
https://www.readbyqxmd.com/read/27640304/evidence-that-the-5p12-variant-rs10941679-confers-susceptibility-to-estrogen-receptor-positive-breast-cancer-through-fgf10-and-mrps30-regulation
#9
Maya Ghoussaini, Juliet D French, Kyriaki Michailidou, Silje Nord, Jonathan Beesley, Sander Canisus, Kristine M Hillman, Susanne Kaufmann, Haran Sivakumaran, Mahdi Moradi Marjaneh, Jason S Lee, Joe Dennis, Manjeet K Bolla, Qin Wang, Ed Dicks, Roger L Milne, John L Hopper, Melissa C Southey, Marjanka K Schmidt, Annegien Broeks, Kenneth Muir, Artitaya Lophatananon, Peter A Fasching, Matthias W Beckmann, Olivia Fletcher, Nichola Johnson, Elinor J Sawyer, Ian Tomlinson, Barbara Burwinkel, Frederik Marme, Pascal Guénel, Thérèse Truong, Stig E Bojesen, Henrik Flyger, Javier Benitez, Anna González-Neira, M Rosario Alonso, Guillermo Pita, Susan L Neuhausen, Hoda Anton-Culver, Hermann Brenner, Volker Arndt, Alfons Meindl, Rita K Schmutzler, Hiltrud Brauch, Ute Hamann, Daniel C Tessier, Daniel Vincent, Heli Nevanlinna, Sofia Khan, Keitaro Matsuo, Hidemi Ito, Thilo Dörk, Natalia V Bogdanova, Annika Lindblom, Sara Margolin, Arto Mannermaa, Veli-Matti Kosma, Anna H Wu, David Van Den Berg, Diether Lambrechts, Giuseppe Floris, Jenny Chang-Claude, Anja Rudolph, Paolo Radice, Monica Barile, Fergus J Couch, Emily Hallberg, Graham G Giles, Christopher A Haiman, Loic Le Marchand, Mark S Goldberg, Soo H Teo, Cheng Har Yip, Anne-Lise Borresen-Dale, Wei Zheng, Qiuyin Cai, Robert Winqvist, Katri Pylkäs, Irene L Andrulis, Peter Devilee, Rob A E M Tollenaar, Montserrat García-Closas, Jonine Figueroa, Per Hall, Kamila Czene, Judith S Brand, Hatef Darabi, Mikael Eriksson, Maartje J Hooning, Linetta B Koppert, Jingmei Li, Xiao-Ou Shu, Ying Zheng, Angela Cox, Simon S Cross, Mitul Shah, Valerie Rhenius, Ji-Yeob Choi, Daehee Kang, Mikael Hartman, Kee Seng Chia, Maria Kabisch, Diana Torres, Craig Luccarini, Don M Conroy, Anna Jakubowska, Jan Lubinski, Suleeporn Sangrajrang, Paul Brennan, Curtis Olswold, Susan Slager, Chen-Yang Shen, Ming-Feng Hou, Anthony Swerdlow, Minouk J Schoemaker, Jacques Simard, Paul D P Pharoah, Vessela Kristensen, Georgia Chenevix-Trench, Douglas F Easton, Alison M Dunning, Stacey L Edwards
Genome-wide association studies (GWASs) have revealed increased breast cancer risk associated with multiple genetic variants at 5p12. Here, we report the fine mapping of this locus using data from 104,660 subjects from 50 case-control studies in the Breast Cancer Association Consortium (BCAC). With data for 3,365 genotyped and imputed SNPs across a 1 Mb region (positions 44,394,495-45,364,167; NCBI build 37), we found evidence for at least three independent signals: the strongest signal, consisting of a single SNP rs10941679, was associated with risk of estrogen-receptor-positive (ER(+)) breast cancer (per-g allele OR ER(+) = 1...
October 6, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27635945/myolipoma-of-soft-tissue-clinicopathologic-analysis-of-34-cases
#10
Mana Fukushima, Inga-Marie Schaefer, Christopher D M Fletcher
Myolipoma of soft tissue, which was first described by Meis and Enzinger (1991), is a rare benign neoplasm characterized by the admixture of mature adipocytes and well-differentiated smooth muscle cells. Recently, cytogenetic alteration of the HMGA2 gene has been reported in 2 myolipomas. We present the clinicopathologic features of 34 cases of myolipoma of soft tissue, study immunoreactivity for HMGA2, and review the previous literature. In our series, there were 32 women and 2 men, with age at presentation ranging from 35 to 94 years (median, 55 y)...
September 15, 2016: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27603901/pro-invasive-effect-of-proto-oncogene-pbf-is-modulated-by-an-interaction-with-cortactin
#11
Rachel J Watkins, Waraporn Imruetaicharoenchoke, Martin L Read, Neil Sharma, Vikki L Poole, Erica Gentillin, Sukhchain Bansal, Emy Bosseboeuf, Rachel Fletcher, Hannah R Nieto, Ujjal Mallick, Allan Hackshaw, Hisham Mehanna, Kristien Boelaert, Vicki E Smith, Christopher J McCabe
CONTEXT: Metastatic disease is responsible for the majority of endocrine cancer deaths. New therapeutic targets are urgently needed to improve patient survival rates. OBJECTIVE: The proto-oncogene PTTG1-Binding Factor (PBF/PTTG1IP) is overexpressed in multiple endocrine cancers and circumstantially associated with tumour aggressiveness. This study aimed to understand the role of PBF in tumour cell invasion and identify possible routes to inhibit its action. Design, Setting, Patients, and Interventions: Thyroid, breast and colorectal cells were transfected with PBF and cultured for in vitro analysis...
September 7, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27601076/functional-mechanisms-underlying-pleiotropic-risk-alleles-at-the-19p13-1-breast-ovarian-cancer-susceptibility-locus
#12
Kate Lawrenson, Siddhartha Kar, Karen McCue, Karoline Kuchenbaeker, Kyriaki Michailidou, Jonathan Tyrer, Jonathan Beesley, Susan J Ramus, Qiyuan Li, Melissa K Delgado, Janet M Lee, Kristiina Aittomäki, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Banu K Arun, Brita Arver, Elisa V Bandera, Monica Barile, Rosa B Barkardottir, Daniel Barrowdale, Matthias W Beckmann, Javier Benitez, Andrew Berchuck, Maria Bisogna, Line Bjorge, Carl Blomqvist, William Blot, Natalia Bogdanova, Anders Bojesen, Stig E Bojesen, Manjeet K Bolla, Bernardo Bonanni, Anne-Lise Børresen-Dale, Hiltrud Brauch, Paul Brennan, Hermann Brenner, Fiona Bruinsma, Joan Brunet, Shaik Ahmad Buhari, Barbara Burwinkel, Ralf Butzow, Saundra S Buys, Qiuyin Cai, Trinidad Caldes, Ian Campbell, Rikki Canniotto, Jenny Chang-Claude, Jocelyne Chiquette, Ji-Yeob Choi, Kathleen B M Claes, Linda S Cook, Angela Cox, Daniel W Cramer, Simon S Cross, Cezary Cybulski, Kamila Czene, Mary B Daly, Francesca Damiola, Agnieszka Dansonka-Mieszkowska, Hatef Darabi, Joe Dennis, Peter Devilee, Orland Diez, Jennifer A Doherty, Susan M Domchek, Cecilia M Dorfling, Thilo Dörk, Martine Dumont, Hans Ehrencrona, Bent Ejlertsen, Steve Ellis, Christoph Engel, Eunjung Lee, D Gareth Evans, Peter A Fasching, Lidia Feliubadalo, Jonine Figueroa, Dieter Flesch-Janys, Olivia Fletcher, Henrik Flyger, Lenka Foretova, Florentia Fostira, William D Foulkes, Brooke L Fridley, Eitan Friedman, Debra Frost, Gaetana Gambino, Patricia A Ganz, Judy Garber, Montserrat García-Closas, Aleksandra Gentry-Maharaj, Maya Ghoussaini, Graham G Giles, Rosalind Glasspool, Andrew K Godwin, Mark S Goldberg, David E Goldgar, Anna González-Neira, Ellen L Goode, Marc T Goodman, Mark H Greene, Jacek Gronwald, Pascal Guénel, Christopher A Haiman, Per Hall, Emily Hallberg, Ute Hamann, Thomas V O Hansen, Patricia A Harrington, Mikael Hartman, Norhashimah Hassan, Sue Healey, Florian Heitz, Josef Herzog, Estrid Høgdall, Claus K Høgdall, Frans B L Hogervorst, Antoinette Hollestelle, John L Hopper, Peter J Hulick, Tomasz Huzarski, Evgeny N Imyanitov, Claudine Isaacs, Hidemi Ito, Anna Jakubowska, Ramunas Janavicius, Allan Jensen, Esther M John, Nichola Johnson, Maria Kabisch, Daehee Kang, Miroslav Kapuscinski, Beth Y Karlan, Sofia Khan, Lambertus A Kiemeney, Susanne Kruger Kjaer, Julia A Knight, Irene Konstantopoulou, Veli-Matti Kosma, Vessela Kristensen, Jolanta Kupryjanczyk, Ava Kwong, Miguel de la Hoya, Yael Laitman, Diether Lambrechts, Nhu Le, Kim De Leeneer, Jenny Lester, Douglas A Levine, Jingmei Li, Annika Lindblom, Jirong Long, Artitaya Lophatananon, Jennifer T Loud, Karen Lu, Jan Lubinski, Arto Mannermaa, Siranoush Manoukian, Loic Le Marchand, Sara Margolin, Frederik Marme, Leon F A G Massuger, Keitaro Matsuo, Sylvie Mazoyer, Lesley McGuffog, Catriona McLean, Iain McNeish, Alfons Meindl, Usha Menon, Arjen R Mensenkamp, Roger L Milne, Marco Montagna, Kirsten B Moysich, Kenneth Muir, Anna Marie Mulligan, Katherine L Nathanson, Roberta B Ness, Susan L Neuhausen, Heli Nevanlinna, Silje Nord, Robert L Nussbaum, Kunle Odunsi, Kenneth Offit, Edith Olah, Olufunmilayo I Olopade, Janet E Olson, Curtis Olswold, David O'Malley, Irene Orlow, Nick Orr, Ana Osorio, Sue Kyung Park, Celeste L Pearce, Tanja Pejovic, Paolo Peterlongo, Georg Pfeiler, Catherine M Phelan, Elizabeth M Poole, Katri Pylkäs, Paolo Radice, Johanna Rantala, Muhammad Usman Rashid, Gad Rennert, Valerie Rhenius, Kerstin Rhiem, Harvey A Risch, Gus Rodriguez, Mary Anne Rossing, Anja Rudolph, Helga B Salvesen, Suleeporn Sangrajrang, Elinor J Sawyer, Joellen M Schildkraut, Marjanka K Schmidt, Rita K Schmutzler, Thomas A Sellers, Caroline Seynaeve, Mitul Shah, Chen-Yang Shen, Xiao-Ou Shu, Weiva Sieh, Christian F Singer, Olga M Sinilnikova, Susan Slager, Honglin Song, Penny Soucy, Melissa C Southey, Marie Stenmark-Askmalm, Dominique Stoppa-Lyonnet, Christian Sutter, Anthony Swerdlow, Sandrine Tchatchou, Manuel R Teixeira, Soo H Teo, Kathryn L Terry, Mary Beth Terry, Mads Thomassen, Maria Grazia Tibiletti, Laima Tihomirova, Silvia Tognazzo, Amanda Ewart Toland, Ian Tomlinson, Diana Torres, Thérèse Truong, Chiu-Chen Tseng, Nadine Tung, Shelley S Tworoger, Celine Vachon, Ans M W van den Ouweland, Helena C van Doorn, Elizabeth J van Rensburg, Laura J Van't Veer, Adriaan Vanderstichele, Ignace Vergote, Joseph Vijai, Qin Wang, Shan Wang-Gohrke, Jeffrey N Weitzel, Nicolas Wentzensen, Alice S Whittemore, Hans Wildiers, Robert Winqvist, Anna H Wu, Drakoulis Yannoukakos, Sook-Yee Yoon, Jyh-Cherng Yu, Wei Zheng, Ying Zheng, Kum Kum Khanna, Jacques Simard, Alvaro N Monteiro, Juliet D French, Fergus J Couch, Matthew L Freedman, Douglas F Easton, Alison M Dunning, Paul D Pharoah, Stacey L Edwards, Georgia Chenevix-Trench, Antonis C Antoniou, Simon A Gayther
A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10(-20)), ER-negative BC (P=1.1 × 10(-13)), BRCA1-associated BC (P=7.7 × 10(-16)) and triple negative BC (P-diff=2 × 10(-5)). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10(-3)) and ABHD8 (P<2 × 10(-3))...
September 7, 2016: Nature Communications
https://www.readbyqxmd.com/read/27600471/fine-scale-mapping-of-the-17q22-breast-cancer-locus-using-dense-snps-genotyped-within-the-collaborative-oncological-gene-environment-study-cogs
#13
Hatef Darabi, Jonathan Beesley, Arnaud Droit, Siddhartha Kar, Silje Nord, Mahdi Moradi Marjaneh, Penny Soucy, Kyriaki Michailidou, Maya Ghoussaini, Hanna Fues Wahl, Manjeet K Bolla, Qin Wang, Joe Dennis, M Rosario Alonso, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Matthias W Beckmann, Javier Benitez, Natalia V Bogdanova, Stig E Bojesen, Hiltrud Brauch, Hermann Brenner, Annegien Broeks, Thomas Brüning, Barbara Burwinkel, Jenny Chang-Claude, Ji-Yeob Choi, Don M Conroy, Fergus J Couch, Angela Cox, Simon S Cross, Kamila Czene, Peter Devilee, Thilo Dörk, Douglas F Easton, Peter A Fasching, Jonine Figueroa, Olivia Fletcher, Henrik Flyger, Eva Galle, Montserrat García-Closas, Graham G Giles, Mark S Goldberg, Anna González-Neira, Pascal Guénel, Christopher A Haiman, Emily Hallberg, Ute Hamann, Mikael Hartman, Antoinette Hollestelle, John L Hopper, Hidemi Ito, Anna Jakubowska, Nichola Johnson, Daehee Kang, Sofia Khan, Veli-Matti Kosma, Mieke Kriege, Vessela Kristensen, Diether Lambrechts, Loic Le Marchand, Soo Chin Lee, Annika Lindblom, Artitaya Lophatananon, Jan Lubinski, Arto Mannermaa, Siranoush Manoukian, Sara Margolin, Keitaro Matsuo, Rebecca Mayes, James McKay, Alfons Meindl, Roger L Milne, Kenneth Muir, Susan L Neuhausen, Heli Nevanlinna, Curtis Olswold, Nick Orr, Paolo Peterlongo, Guillermo Pita, Katri Pylkäs, Anja Rudolph, Suleeporn Sangrajrang, Elinor J Sawyer, Marjanka K Schmidt, Rita K Schmutzler, Caroline Seynaeve, Mitul Shah, Chen-Yang Shen, Xiao-Ou Shu, Melissa C Southey, Daniel O Stram, Harald Surowy, Anthony Swerdlow, Soo H Teo, Daniel C Tessier, Ian Tomlinson, Diana Torres, Thérèse Truong, Celine M Vachon, Daniel Vincent, Robert Winqvist, Anna H Wu, Pei-Ei Wu, Cheng Har Yip, Wei Zheng, Paul D P Pharoah, Per Hall, Stacey L Edwards, Jacques Simard, Juliet D French, Georgia Chenevix-Trench, Alison M Dunning
Genome-wide association studies have found SNPs at 17q22 to be associated with breast cancer risk. To identify potential causal variants related to breast cancer risk, we performed a high resolution fine-mapping analysis that involved genotyping 517 SNPs using a custom Illumina iSelect array (iCOGS) followed by imputation of genotypes for 3,134 SNPs in more than 89,000 participants of European ancestry from the Breast Cancer Association Consortium (BCAC). We identified 28 highly correlated common variants, in a 53 Kb region spanning two introns of the STXBP4 gene, that are strong candidates for driving breast cancer risk (lead SNP rs2787486 (OR = 0...
September 7, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27595995/palb2-chek2-and-atm-rare-variants-and-cancer-risk-data-from-cogs
#14
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/27571260/mutations-in-snord118-cause-the-cerebral-microangiopathy-leukoencephalopathy-with-calcifications-and-cysts
#15
Emma M Jenkinson, Mathieu P Rodero, Paul R Kasher, Carolina Uggenti, Anthony Oojageer, Laurence C Goosey, Yoann Rose, Christopher J Kershaw, Jill E Urquhart, Simon G Williams, Sanjeev S Bhaskar, James O'Sullivan, Gabriela M Baerlocher, Monika Haubitz, Geraldine Aubert, Kristin W Barañano, Angela J Barnicoat, Roberta Battini, Andrea Berger, Edward M Blair, Janice E Brunstrom-Hernandez, Johannes A Buckard, David M Cassiman, Rosaline Caumes, Duccio M Cordelli, Liesbeth M De Waele, Alexander J Fay, Patrick Ferreira, Nicholas A Fletcher, Alan E Fryer, Himanshu Goel, Cheryl A Hemingway, Marco Henneke, Imelda Hughes, Rosalind J Jefferson, Ram Kumar, Lieven Lagae, Pierre G Landrieu, Charles M Lourenço, Timothy J Malpas, Sarju G Mehta, Imke Metz, Sakkubai Naidu, Katrin Õunap, Axel Panzer, Prab Prabhakar, Gerardine Quaghebeur, Raphael Schiffmann, Elliott H Sherr, Kanaga R Sinnathuray, Calvin Soh, Helen S Stewart, John Stone, Hilde Van Esch, Christine E G Van Mol, Adeline Vanderver, Emma L Wakeling, Andrea Whitney, Graham D Pavitt, Sam Griffiths-Jones, Gillian I Rice, Patrick Revy, Marjo S van der Knaap, John H Livingston, Raymond T O'Keefe, Yanick J Crow
Although ribosomes are ubiquitous and essential for life, recent data indicate that monogenic causes of ribosomal dysfunction can confer a remarkable degree of specificity in terms of human disease phenotype. Box C/D small nucleolar RNAs (snoRNAs) are evolutionarily conserved non-protein-coding RNAs involved in ribosome biogenesis. Here we show that biallelic mutations in the gene SNORD118, encoding the box C/D snoRNA U8, cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts (LCC), presenting at any age from early childhood to late adulthood...
October 2016: Nature Genetics
https://www.readbyqxmd.com/read/27562490/tert-promoter-mutations-and-prognosis-in-solitary-fibrous-tumor
#16
Armita Bahrami, Seungjae Lee, Inga-Marie Schaefer, Jennifer M Boland, Kurt T Patton, Stanley Pounds, Christopher D Fletcher
Solitary fibrous tumor is a mesenchymal neoplasm exhibiting a broad spectrum of biological behavior and harboring the NAB2-STAT6 fusion. Clinicopathologic parameters are currently used in risk-prediction models for solitary fibrous tumor, but the molecular determinants of malignancy in solitary fibrous tumors remain unknown. We proposed that the activation of telomere maintenance pathways confers a perpetual malignant phenotype to these tumors. Therefore, we investigated telomerase reverse transcriptase (TERT) reactivation induced by promoter mutations as a potential molecular mechanism for aggressive clinical behavior in solitary fibrous tumor...
August 26, 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/27556229/fine-mapping-of-the-1p11-2-breast-cancer-susceptibility-locus
#17
Hisani N Horne, Charles C Chung, Han Zhang, Kai Yu, Ludmila Prokunina-Olsson, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, John L Hopper, Melissa C Southey, Marjanka K Schmidt, Annegien Broeks, Kenneth Muir, Artitaya Lophatananon, Peter A Fasching, Matthias W Beckmann, Olivia Fletcher, Nichola Johnson, Elinor J Sawyer, Ian Tomlinson, Barbara Burwinkel, Frederik Marme, Pascal Guénel, Thérèse Truong, Stig E Bojesen, Henrik Flyger, Javier Benitez, Anna González-Neira, Hoda Anton-Culver, Susan L Neuhausen, Hermann Brenner, Volker Arndt, Alfons Meindl, Rita K Schmutzler, Hiltrud Brauch, Ute Hamann, Heli Nevanlinna, Sofia Khan, Keitaro Matsuo, Hiroji Iwata, Thilo Dörk, Natalia V Bogdanova, Annika Lindblom, Sara Margolin, Arto Mannermaa, Veli-Matti Kosma, Georgia Chenevix-Trench, Anna H Wu, David Ven den Berg, Ann Smeets, Hui Zhao, Jenny Chang-Claude, Anja Rudolph, Paolo Radice, Monica Barile, Fergus J Couch, Celine Vachon, Graham G Giles, Roger L Milne, Christopher A Haiman, Loic Le Marchand, Mark S Goldberg, Soo H Teo, Nur A M Taib, Vessela Kristensen, Anne-Lise Borresen-Dale, Wei Zheng, Martha Shrubsole, Robert Winqvist, Arja Jukkola-Vuorinen, Irene L Andrulis, Julia A Knight, Peter Devilee, Caroline Seynaeve, Montserrat García-Closas, Kamila Czene, Hatef Darabi, Antoinette Hollestelle, John W M Martens, Jingmei Li, Wei Lu, Xiao-Ou Shu, Angela Cox, Simon S Cross, William Blot, Qiuyin Cai, Mitul Shah, Craig Luccarini, Caroline Baynes, Patricia Harrington, Daehee Kang, Ji-Yeob Choi, Mikael Hartman, Kee Seng Chia, Maria Kabisch, Diana Torres, Anna Jakubowska, Jan Lubinski, Suleeporn Sangrajrang, Paul Brennan, Susan Slager, Drakoulis Yannoukakos, Chen-Yang Shen, Ming-Feng Hou, Anthony Swerdlow, Nick Orr, Jacques Simard, Per Hall, Paul D P Pharoah, Douglas F Easton, Stephen J Chanock, Alison M Dunning, Jonine D Figueroa
The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. To fine-map this locus, we genotyped 92 SNPs in a 900kb region (120,505,799-121,481,132) flanking rs11249433 in 45,276 breast cancer cases and 48,998 controls of European, Asian and African ancestry from 50 studies in the Breast Cancer Association Consortium. Genotyping was done using iCOGS, a custom-built array...
2016: PloS One
https://www.readbyqxmd.com/read/27551723/genetically-predicted-body-mass-index-and-breast-cancer-risk-mendelian-randomization-analyses-of-data-from-145-000-women-of-european-descent
#18
Yan Guo, Shaneda Warren Andersen, Xiao-Ou Shu, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Montserrat Garcia-Closas, Roger L Milne, Marjanka K Schmidt, Jenny Chang-Claude, Allison Dunning, Stig E Bojesen, Habibul Ahsan, Kristiina Aittomäki, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Matthias W Beckmann, Alicia Beeghly-Fadiel, Javier Benitez, Natalia V Bogdanova, Bernardo Bonanni, Anne-Lise Børresen-Dale, Judith Brand, Hiltrud Brauch, Hermann Brenner, Thomas Brüning, Barbara Burwinkel, Graham Casey, Georgia Chenevix-Trench, Fergus J Couch, Angela Cox, Simon S Cross, Kamila Czene, Peter Devilee, Thilo Dörk, Martine Dumont, Peter A Fasching, Jonine Figueroa, Dieter Flesch-Janys, Olivia Fletcher, Henrik Flyger, Florentia Fostira, Marilie Gammon, Graham G Giles, Pascal Guénel, Christopher A Haiman, Ute Hamann, Maartje J Hooning, John L Hopper, Anna Jakubowska, Farzana Jasmine, Mark Jenkins, Esther M John, Nichola Johnson, Michael E Jones, Maria Kabisch, Muhammad Kibriya, Julia A Knight, Linetta B Koppert, Veli-Matti Kosma, Vessela Kristensen, Loic Le Marchand, Eunjung Lee, Jingmei Li, Annika Lindblom, Robert Luben, Jan Lubinski, Kathi E Malone, Arto Mannermaa, Sara Margolin, Frederik Marme, Catriona McLean, Hanne Meijers-Heijboer, Alfons Meindl, Susan L Neuhausen, Heli Nevanlinna, Patrick Neven, Janet E Olson, Jose I A Perez, Barbara Perkins, Paolo Peterlongo, Kelly-Anne Phillips, Katri Pylkäs, Anja Rudolph, Regina Santella, Elinor J Sawyer, Rita K Schmutzler, Caroline Seynaeve, Mitul Shah, Martha J Shrubsole, Melissa C Southey, Anthony J Swerdlow, Amanda E Toland, Ian Tomlinson, Diana Torres, Thérèse Truong, Giske Ursin, Rob B Van Der Luijt, Senno Verhoef, Alice S Whittemore, Robert Winqvist, Hui Zhao, Shilin Zhao, Per Hall, Jacques Simard, Peter Kraft, Paul Pharoah, David Hunter, Douglas F Easton, Wei Zheng
BACKGROUND: Observational epidemiological studies have shown that high body mass index (BMI) is associated with a reduced risk of breast cancer in premenopausal women but an increased risk in postmenopausal women. It is unclear whether this association is mediated through shared genetic or environmental factors. METHODS: We applied Mendelian randomization to evaluate the association between BMI and risk of breast cancer occurrence using data from two large breast cancer consortia...
August 2016: PLoS Medicine
https://www.readbyqxmd.com/read/27543973/the-promises-and-pitfalls-of-applying-computational-models-to-neurological-and-psychiatric-disorders
#19
Christoph Teufel, Paul C Fletcher
Computational models have become an integral part of basic neuroscience and have facilitated some of the major advances in the field. More recently, such models have also been applied to the understanding of disruptions in brain function. In this review, using examples and a simple analogy, we discuss the potential for computational models to inform our understanding of brain function and dysfunction. We argue that they may provide, in unprecedented detail, an understanding of the neurobiological and mental basis of brain disorders and that such insights will be key to progress in diagnosis and treatment...
October 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27509381/seasonal-and-species-variation-of-the-hepatotoxin-indospicine-in-australian-indigofera-legumes-as-measured-by-uplc-ms-ms
#20
Eddie T T Tan, Christopher M Materne, Richard G Silcock, Bruce R D'Arcy, Rafat Al Jassim, Mary T Fletcher
Livestock industries have maintained a keen interest in pasture legumes because of the high protein content and nutritive value. Leguminous Indigofera plant species have been considered as having high feeding values to be utilized as pasture, but the occurrence of the toxic constituent indospicine in some species has restricted this utility. Indospicine has caused both primary and secondary hepatotoxicosis and also reproductive losses, but has only previously been determined in a small number of Indigofera species...
August 31, 2016: Journal of Agricultural and Food Chemistry
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