Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Efterpi Papouli"'
Autor:
Katherine Lawler, Efterpi Papouli, Cristina Naceur-Lombardelli, Anca Mera, Kayleigh Ougham, Andrew Tutt, Siker Kimbung, Ingrid Hedenfalk, Jun Zhan, Hongquan Zhang, Richard Buus, Mitch Dowsett, Tony Ng, Sarah E. Pinder, Peter Parker, Lars Holmberg, Cheryl E. Gillett, Anita Grigoriadis, Arnie Purushotham
Publikováno v:
Breast Cancer Research, Vol 19, Iss 1, Pp 1-15 (2017)
Abstract Background Metastases from primary breast cancers can involve single or multiple organs at metastatic disease diagnosis. Molecular risk factors for particular patterns of metastastic spread in a clinical population are limited. Methods A cas
Externí odkaz:
https://doaj.org/article/03ebc95b8b9b486a9ced3d7038773c8f
Autor:
Natalie J Prescott, Benjamin Lehne, Kristina Stone, James C Lee, Kirstin Taylor, Jo Knight, Efterpi Papouli, Muddassar M Mirza, Michael A Simpson, Sarah L Spain, Grace Lu, Franca Fraternali, Suzannah J Bumpstead, Emma Gray, Ariella Amar, Hannah Bye, Peter Green, Guy Chung-Faye, Bu'Hussain Hayee, Richard Pollok, Jack Satsangi, Miles Parkes, Jeffrey C Barrett, John C Mansfield, Jeremy Sanderson, Cathryn M Lewis, Michael E Weale, Thomas Schlitt, Christopher G Mathew, UK IBD Genetics Consortium
Publikováno v:
PLoS Genetics, Vol 11, Iss 2, p e1004955 (2015)
The contribution of rare coding sequence variants to genetic susceptibility in complex disorders is an important but unresolved question. Most studies thus far have investigated a limited number of genes from regions which contain common disease asso
Externí odkaz:
https://doaj.org/article/3034006484b2454399b4760e82e0114d
Autor:
Elinor Sawyer, Rebecca Roylance, Christos Petridis, Mark N Brook, Salpie Nowinski, Efterpi Papouli, Olivia Fletcher, Sarah Pinder, Andrew Hanby, Kelly Kohut, Patricia Gorman, Michele Caneppele, Julian Peto, Isabel Dos Santos Silva, Nichola Johnson, Ruth Swann, Miriam Dwek, Katherine-Anne Perkins, Cheryl Gillett, Richard Houlston, Gillian Ross, Paolo De Ieso, Melissa C Southey, John L Hopper, Elena Provenzano, Carmel Apicella, Jelle Wesseling, Sten Cornelissen, Renske Keeman, Peter A Fasching, Sebastian M Jud, Arif B Ekici, Matthias W Beckmann, Michael J Kerin, Federick Marme, Andreas Schneeweiss, Christof Sohn, Barbara Burwinkel, Pascal Guénel, Therese Truong, Pierre Laurent-Puig, Pierre Kerbrat, Stig E Bojesen, Børge G Nordestgaard, Sune F Nielsen, Henrik Flyger, Roger L Milne, Jose Ignacio Arias Perez, Primitiva Menéndez, Javier Benitez, Hermann Brenner, Aida Karina Dieffenbach, Volker Arndt, Christa Stegmaier, Alfons Meindl, Peter Lichtner, Rita K Schmutzler, Magdalena Lochmann, Hiltrud Brauch, Hans-Peter Fischer, Yon-Dschun Ko, GENICA Network, Heli Nevanlinna, Taru A Muranen, Kristiina Aittomäki, Carl Blomqvist, Natalia V Bogdanova, Thilo Dörk, Annika Lindblom, Sara Margolin, Arto Mannermaa, Vesa Kataja, Veli-Matti Kosma, Jaana M Hartikainen, Georgia Chenevix-Trench, KConFab Investigators, Diether Lambrechts, Caroline Weltens, Erik Van Limbergen, Sigrid Hatse, Jenny Chang-Claude, Anja Rudolph, Petra Seibold, Dieter Flesch-Janys, Paolo Radice, Paolo Peterlongo, Bernardo Bonanni, Sara Volorio, Graham G Giles, Gianluca Severi, Laura Baglietto, Catriona A McLean, Christopher A Haiman, Brian E Henderson, Fredrick Schumacher, Loic Le Marchand, Jacques Simard, Mark S Goldberg, France Labrèche, Martine Dumont, Vessela Kristensen, Robert Winqvist, Katri Pylkäs, Arja Jukkola-Vuorinen, Saila Kauppila, Irene L Andrulis, Julia A Knight, Gord Glendon, Anna Marie Mulligan, Peter Devillee, Rob A E M Tollenaar, Caroline M Seynaeve, Mieke Kriege, Jonine Figueroa, Stephen J Chanock, Mark E Sherman, Maartje J Hooning, Antoinette Hollestelle, Ans M W van den Ouweland, Carolien H M van Deurzen, Jingmei Li, Kamila Czene, Keith Humphreys, Angela Cox, Simon S Cross, Malcolm W R Reed, Mitul Shah, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska-Bieniek, Katarzyna Durda, Anthony Swerdlow, Alan Ashworth, Nicholas Orr, Minouk Schoemaker, Fergus J Couch, Emily Hallberg, Anna González-Neira, Guillermo Pita, M Rosario Alonso, Daniel C Tessier, Daniel Vincent, Francois Bacot, Manjeet K Bolla, Qin Wang, Joe Dennis, Kyriaki Michailidou, Alison M Dunning, Per Hall, Doug Easton, Paul Pharoah, Marjanka K Schmidt, Ian Tomlinson, Montserrat Garcia-Closas
Publikováno v:
PLoS Genetics, Vol 10, Iss 4, p e1004285 (2014)
Invasive lobular breast cancer (ILC) accounts for 10-15% of all invasive breast carcinomas. It is generally ER positive (ER+) and often associated with lobular carcinoma in situ (LCIS). Genome-wide association studies have identified more than 70 com
Externí odkaz:
https://doaj.org/article/c3e1533a163941d7b1a111cfdf7c2b0b
Autor:
Binita M. Kamath, Peter Rushton, Clare V. Logan, Tassos Grammatikopoulos, Colin A. Johnson, A. S. Knisely, Ronald J. Sokol, Melissa Sambrotta, John C. Magee, Barnaby Clark, Simon C. Ling, Giorgina Mieli-Vergani, Michael A. Simpson, Efterpi Papouli, Patricia McClean, David A. Parry, Richard J. Thompson, Lucy J. Newbury, Sandra Strautnieks, Joshua D. Smith, Laura N. Bull, Bart E. Wagner
Publikováno v:
Nature Genetics. 46:326-328
Elucidating genetic causes of cholestasis has proved to be important in understanding the physiology and pathophysiology of the liver. Here we show that protein-truncating mutations in the tight junction protein 2 gene (TJP2) cause failure of protein
Autor:
Helle D. Ulrich, Patrick Sung, Adelina A. Davies, Lumir Krejci, Diana Huttner, Shuhua Chen, Efterpi Papouli
Publikováno v:
Molecular Cell. 19(1):123-133
Posttranslational modification of proliferating cell nuclear antigen (PCNA), an essential processivity clamp for DNA polymerases, by ubiquitin and SUMO contributes to the coordination of DNA replication, damage tolerance, and mutagenesis. Whereas ubi
Publikováno v:
Cancer Research. 64:3391-3394
Mismatch repair (MMR) deficiency was reported to increase resistance of mammalian cells to killing by several genotoxic substances. However, although MMR-deficient cells are ∼100-fold more resistant to killing by SN1 type methylating agents than MM
Publikováno v:
Oncogene
Oncogene, Nature Publishing Group, 2002, 21 (33), pp.5188-92. ⟨10.1038/sj.onc.1205659⟩
Oncogene, Nature Publishing Group, 2002, 21 (33), pp.5188-92. ⟨10.1038/sj.onc.1205659⟩
The BRCA2 tumor suppressor has been implicated in the maintenance of genomic integrity through a function in cellular responses to DNA damage. The BRCA2 protein directly associates with Rad51, that is essential for repair of double-strand breaks (DSB
Autor:
Tariq Ahmad, Charles A. Mein, Jeffrey C. Barrett, Christopher G. Mathew, Suna Onengut-Gumuscu, Yong Kong, Luke Jostins, Muddassar M. Mirza, James Lee, Miles Parkes, Stephen C. L. Gough, Vincent Plagnol, Karen A. Hunt, Efterpi Papouli, Eva Wozniak, Steven Sawcer, Alastair Compston, Vanisha Mistry, John C. Mansfield, Richard C. Trembath, Jonathan Barker, Monkol Lek, Oliver S. Burren, Francesca Capon, David A. van Heel, Oliver J. Brand, Matthew J. Simmonds, Neil Walker, Michael A. Simpson, Nicholas A. Bockett, Maria Ban, Stephen S. Rich, Jack Satsangi, Hannah Blackburn, Daniel G. MacArthur, Sarah Nutland, John A. Todd
Publikováno v:
Hunt, K A, Mistry, V, Bockett, N A, Ahmad, T, Ban, M, Barker, J N, Barrett, J C, Blackburn, H, Brand, O, Burren, O, Capon, F, Compston, A, Gough, S C L, Jostins, L, Kong, Y, Lee, J C, Lek, M, MacArthur, D G, Mansfield, J C, Mathew, C G, Mein, C A, Mirza, M, Nutland, S, Onengut-Gumuscu, S, Papouli, E, Parkes, M, Rich, S S, Sawcer, S, Satsangi, J, Simmonds, M J, Trembath, R C, Walker, N M, Wozniak, E, Todd, J A, Simpson, M A, Plagnol, V & van Heel, D A 2013, ' Negligible impact of rare autoimmune-locus coding-region variants on missing heritability ', Nature, vol. 498, no. 7453, pp. 232-5 . https://doi.org/10.1038/nature12170
Nature
Nature
A search for variants in coding exons of 25 genome-wide association study risk genes in a large cohort of autoimmune patients finds that rare coding-region variants at known loci have a negligible role in common autoimmune disease susceptibility, arg
Autor:
Robin E. Callard, Daniel N. Brewer, Jaroslav Stark, Daniela Tomescu, Mike Hubank, Martino Barenco, Efterpi Papouli
Publikováno v:
Molecular Systems Biology
Modern genomics technologies generate huge data sets creating a demand for systems level, experimentally verified, analysis techniques. We examined the transcriptional response to DNA damage in a human T cell line (MOLT4) using microarrays. By measur
Autor:
Peter J. Parker, Tony Ng, Lars Holmberg, Arnie Purushotham, Katherine Lawler, Andrew Tutt, Efterpi Papouli, Anita Grigoriadis, S. Pinder, Cheryl Gillett
Publikováno v:
Annals of Oncology. 26:iii10