Zobrazeno 1 - 10
of 88
pro vyhledávání: '"Laura Fachal"'
Autor:
Elizabeth C. Goode, Laura Fachal, Nikolaos Panousis, Loukas Moutsianas, Rebecca E. McIntyre, Benjamin Yu Hang Bai, Norihito Kawasaki, Alexandra Wittmann, Tim Raine, Simon M. Rushbrook, Carl A. Anderson
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-14 (2024)
Abstract Genome-wide association studies of primary sclerosing cholangitis have identified 23 susceptibility loci. The majority of these loci reside in non-coding regions of the genome and are thought to exert their effect by perturbing the regulatio
Externí odkaz:
https://doaj.org/article/0f8184604dce4d29a214066cecab7cb1
Autor:
Adam J. Webb, Emily Harper, Tim Rattay, Miguel E. Aguado-Barrera, David Azria, Celine Bourgier, Muriel Brengues, Erik Briers, Renée Bultijnck, Jenny Chang-Claude, Ananya Choudhury, Alessandro Cicchetti, Dirk De Ruysscher, Maria Carmen De Santis, Alison M. Dunning, Rebecca M. Elliott, Laura Fachal, Antonio Gómez-Caamaño, Sara Gutiérrez-Enríquez, Kerstie Johnson, Ramón Lobato-Busto, Sarah L. Kerns, Giselle Post, Tiziana Rancati, Victoria Reyes, Barry S. Rosenstein, Petra Seibold, Alejandro Seoane, Paloma Sosa-Fajardo, Elena Sperk, Begoña Taboada-Valladares, Riccardo Valdagni, Ana Vega, Liv Veldeman, Tim Ward, Catharine M. West, R. Paul Symonds, Christopher J. Talbot
Publikováno v:
EBioMedicine, Vol 84, Iss , Pp 104269- (2022)
Summary: Background: Circadian rhythm impacts broad biological processes, including response to cancer treatment. Evidence conflicts on whether treatment time affects risk of radiotherapy side-effects, likely because of differing time analyses and ta
Externí odkaz:
https://doaj.org/article/097e7e00ef4744c287a2116c62e23053
Autor:
Eva Gonçalves Serra, Tobias Schwerd, Loukas Moutsianas, Athena Cavounidis, Laura Fachal, Sumeet Pandey, Jochen Kammermeier, Nicholas M. Croft, Carsten Posovszky, Astor Rodrigues, Richard K. Russell, Farah Barakat, Marcus K. H. Auth, Robert Heuschkel, Matthias Zilbauer, Krzysztof Fyderek, Christian Braegger, Simon P. Travis, Jack Satsangi, Miles Parkes, Nikhil Thapar, Helen Ferry, Julie C. Matte, Kimberly C. Gilmour, Andrzej Wedrychowicz, Peter Sullivan, Carmel Moore, Jennifer Sambrook, Willem Ouwehand, David Roberts, John Danesh, Toni A. Baeumler, Tudor A. Fulga, Mohammad Karaminejadranjbar, Ahmed Ahmed, Rachel Wilson, Jeffrey C. Barrett, Abdul Elkadri, Anne M. Griffiths, COLORS in IBD group investigators, Oxford IBD cohort study investigators, INTERVAL Study, Swiss IBD cohort investigators, UK IBD Genetics Consortium, NIDDK IBD Genetics Consortium, Scott B. Snapper, Neil Shah, Aleixo M. Muise, David C. Wilson, Holm H. Uhlig, Carl A. Anderson
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Adult forms of inflammatory bowel disease (IBD) are of a polygenic nature, but paediatric and very early onset (VEO) IBD also occur as monogenic forms. Here, using whole exome sequencing, the authors explore both the monogenic and polygenic contribut
Externí odkaz:
https://doaj.org/article/2613668b99c441b1b30bfa2765e3a533
Autor:
Mahdi Moradi Marjaneh, Jonathan Beesley, Tracy A. O’Mara, Pamela Mukhopadhyay, Lambros T. Koufariotis, Stephen Kazakoff, Nehal Hussein, Laura Fachal, Nenad Bartonicek, Kristine M. Hillman, Susanne Kaufmann, Haran Sivakumaran, Chanel E. Smart, Amy E. McCart Reed, Kaltin Ferguson, Jodi M. Saunus, Sunil R. Lakhani, Daniel R. Barnes, Antonis C. Antoniou, Marcel E. Dinger, Nicola Waddell, Douglas F. Easton, Alison M. Dunning, Georgia Chenevix-Trench, Stacey L. Edwards, Juliet D. French
Publikováno v:
Genome Biology, Vol 21, Iss 1, Pp 1-14 (2020)
Abstract Background Genetic variants identified through genome-wide association studies (GWAS) are predominantly non-coding and typically attributed to altered regulatory elements such as enhancers and promoters. However, the contribution of non-codi
Externí odkaz:
https://doaj.org/article/5403ef83152d415999f1d71d1048ca89
Autor:
Jonathan Beesley, Haran Sivakumaran, Mahdi Moradi Marjaneh, Luize G. Lima, Kristine M. Hillman, Susanne Kaufmann, Natasha Tuano, Nehal Hussein, Sunyoung Ham, Pamela Mukhopadhyay, Stephen Kazakoff, Jason S. Lee, Kyriaki Michailidou, Daniel R. Barnes, Antonis C. Antoniou, Laura Fachal, Alison M. Dunning, Douglas F. Easton, Nicola Waddell, Joseph Rosenbluh, Andreas Möller, Georgia Chenevix-Trench, Juliet D. French, Stacey L. Edwards
Publikováno v:
Genome Biology, Vol 21, Iss 1, Pp 1-19 (2020)
Abstract Background Genome-wide association studies have identified 196 high confidence independent signals associated with breast cancer susceptibility. Variants within these signals frequently fall in distal regulatory DNA elements that control gen
Externí odkaz:
https://doaj.org/article/fa6386535d1c4c20b6e802d061bc1526
Autor:
Uxia Esperón-Moldes, Manuel Ginarte Val, Laura Rodríguez-Pazos, Laura Fachal, José Manuel Azaña, María Barberá Fons, Mónica Viejo Diaz, Ana Vega
Publikováno v:
Acta Dermato-Venereologica, Vol 99, Iss 10, Pp 894-898 (2019)
Autosomal recessive congenital ichthyosis (ARCI) is a group of rare non-syndrome diseases that affect cornification. PNPLA1 is one of the 12 related genes identified so far. Mutation screening of this gene has resulted in the identification of 13 ind
Externí odkaz:
https://doaj.org/article/1e8317223ec9403bb761232d892d5400
Autor:
Eva Gonçalves Serra, Tobias Schwerd, Loukas Moutsianas, Athena Cavounidis, Laura Fachal, Sumeet Pandey, Jochen Kammermeier, Nicholas M. Croft, Carsten Posovszky, Astor Rodrigues, Richard K. Russell, Farah Barakat, Marcus K. H. Auth, Robert Heuschkel, Matthias Zilbauer, Krzysztof Fyderek, Christian Braegger, Simon P. Travis, Jack Satsangi, Miles Parkes, Nikhil Thapar, Helen Ferry, Julie C. Matte, Kimberly C. Gilmour, Andrzej Wedrychowicz, Peter Sullivan, Carmel Moore, Jennifer Sambrook, Willem Ouwehand, David Roberts, John Danesh, Toni A. Baeumler, Tudor A. Fulga, Eli M Carrami, Ahmed Ahmed, Rachel Wilson, Jeffrey C. Barrett, Abdul Elkadri, Anne M. Griffiths, COLORS in IBD group investigators, Oxford IBD cohort study investigators, INTERVAL Study, Swiss IBD cohort investigators, UK IBD Genetics Consortium, NIDDK IBD Genetics Consortium, Scott B. Snapper, Neil Shah, Aleixo M. Muise, David C. Wilson, Holm H. Uhlig, Carl A. Anderson
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-1 (2022)
Externí odkaz:
https://doaj.org/article/5c86d325bfef42dd9f9c9aa2ea68a8c9
Autor:
Michela Carlotta Massi, Francesca Gasperoni, Francesca Ieva, Anna Maria Paganoni, Paolo Zunino, Andrea Manzoni, Nicola Rares Franco, Liv Veldeman, Piet Ost, Valérie Fonteyne, Christopher J. Talbot, Tim Rattay, Adam Webb, Paul R. Symonds, Kerstie Johnson, Maarten Lambrecht, Karin Haustermans, Gert De Meerleer, Dirk de Ruysscher, Ben Vanneste, Evert Van Limbergen, Ananya Choudhury, Rebecca M. Elliott, Elena Sperk, Carsten Herskind, Marlon R. Veldwijk, Barbara Avuzzi, Tommaso Giandini, Riccardo Valdagni, Alessandro Cicchetti, David Azria, Marie-Pierre Farcy Jacquet, Barry S. Rosenstein, Richard G. Stock, Kayla Collado, Ana Vega, Miguel Elías Aguado-Barrera, Patricia Calvo, Alison M. Dunning, Laura Fachal, Sarah L. Kerns, Debbie Payne, Jenny Chang-Claude, Petra Seibold, Catharine M. L. West, Tiziana Rancati
Publikováno v:
Frontiers in Oncology, Vol 10 (2020)
Background: REQUITE (validating pREdictive models and biomarkers of radiotherapy toxicity to reduce side effects and improve QUalITy of lifE in cancer survivors) is an international prospective cohort study. The purpose of this project was to analyse
Externí odkaz:
https://doaj.org/article/78aa783fab71469e852e36d868f430d7
Autor:
Uxia Esperón-Moldes, Manuel Ginarte-Val, Laura Rodríguez-Pazos, Laura Fachal, Ana Martín-Santiago, Asunción Vicente, David Jiménez-Gallo, Encarna Guillén-Navarro, Loreto Martorell Sampol, María Antonia González-Enseñat, Ana Vega
Publikováno v:
PLoS ONE, Vol 15, Iss 2, p e0229025 (2020)
Mutations in CYP4F22 cause autosomal recessive congenital ichthyosis (ARCI). However, less than 10% of all ARCI patients carry a mutation in CYP4F22. In order to identify the molecular basis of ARCI among our patients (a cohort of ninety-two Spanish
Externí odkaz:
https://doaj.org/article/0ea9eb0f0fb14027b11273ccb93e27d4
Autor:
Tokhir Dadaev, Edward J. Saunders, Paul J. Newcombe, Ezequiel Anokian, Daniel A. Leongamornlert, Mark N. Brook, Clara Cieza-Borrella, Martina Mijuskovic, Sarah Wakerell, Ali Amin Al Olama, Fredrick R. Schumacher, Sonja I. Berndt, Sara Benlloch, Mahbubl Ahmed, Chee Goh, Xin Sheng, Zhuo Zhang, Kenneth Muir, Koveela Govindasami, Artitaya Lophatananon, Victoria L. Stevens, Susan M. Gapstur, Brian D. Carter, Catherine M. Tangen, Phyllis Goodman, Ian M. Thompson, Jyotsna Batra, Suzanne Chambers, Leire Moya, Judith Clements, Lisa Horvath, Wayne Tilley, Gail Risbridger, Henrik Gronberg, Markus Aly, Tobias Nordström, Paul Pharoah, Nora Pashayan, Johanna Schleutker, Teuvo L. J. Tammela, Csilla Sipeky, Anssi Auvinen, Demetrius Albanes, Stephanie Weinstein, Alicja Wolk, Niclas Hakansson, Catharine West, Alison M. Dunning, Neil Burnet, Lorelei Mucci, Edward Giovannucci, Gerald Andriole, Olivier Cussenot, Géraldine Cancel-Tassin, Stella Koutros, Laura E. Beane Freeman, Karina Dalsgaard Sorensen, Torben Falck Orntoft, Michael Borre, Lovise Maehle, Eli Marie Grindedal, David E. Neal, Jenny L. Donovan, Freddie C. Hamdy, Richard M. Martin, Ruth C. Travis, Tim J. Key, Robert J. Hamilton, Neil E. Fleshner, Antonio Finelli, Sue Ann Ingles, Mariana C. Stern, Barry Rosenstein, Sarah Kerns, Harry Ostrer, Yong-Jie Lu, Hong-Wei Zhang, Ninghan Feng, Xueying Mao, Xin Guo, Guomin Wang, Zan Sun, Graham G. Giles, Melissa C. Southey, Robert J. MacInnis, Liesel M. FitzGerald, Adam S. Kibel, Bettina F. Drake, Ana Vega, Antonio Gómez-Caamaño, Laura Fachal, Robert Szulkin, Martin Eklund, Manolis Kogevinas, Javier Llorca, Gemma Castaño-Vinyals, Kathryn L. Penney, Meir Stampfer, Jong Y. Park, Thomas A. Sellers, Hui-Yi Lin, Janet L. Stanford, Cezary Cybulski, Dominika Wokolorczyk, Jan Lubinski, Elaine A. Ostrander, Milan S. Geybels, Børge G. Nordestgaard, Sune F. Nielsen, Maren Weisher, Rasmus Bisbjerg, Martin Andreas Røder, Peter Iversen, Hermann Brenner, Katarina Cuk, Bernd Holleczek, Christiane Maier, Manuel Luedeke, Thomas Schnoeller, Jeri Kim, Christopher J. Logothetis, Esther M. John, Manuel R. Teixeira, Paula Paulo, Marta Cardoso, Susan L. Neuhausen, Linda Steele, Yuan Chun Ding, Kim De Ruyck, Gert De Meerleer, Piet Ost, Azad Razack, Jasmine Lim, Soo-Hwang Teo, Daniel W. Lin, Lisa F. Newcomb, Davor Lessel, Marija Gamulin, Tomislav Kulis, Radka Kaneva, Nawaid Usmani, Chavdar Slavov, Vanio Mitev, Matthew Parliament, Sandeep Singhal, Frank Claessens, Steven Joniau, Thomas Van den Broeck, Samantha Larkin, Paul A. Townsend, Claire Aukim-Hastie, Manuela Gago-Dominguez, Jose Esteban Castelao, Maria Elena Martinez, Monique J. Roobol, Guido Jenster, Ron H. N. van Schaik, Florence Menegaux, Thérèse Truong, Yves Akoli Koudou, Jianfeng Xu, Kay-Tee Khaw, Lisa Cannon-Albright, Hardev Pandha, Agnieszka Michael, Andrzej Kierzek, Stephen N. Thibodeau, Shannon K. McDonnell, Daniel J. Schaid, Sara Lindstrom, Constance Turman, Jing Ma, David J. Hunter, Elio Riboli, Afshan Siddiq, Federico Canzian, Laurence N. Kolonel, Loic Le Marchand, Robert N. Hoover, Mitchell J. Machiela, Peter Kraft, The PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium, Matthew Freedman, Fredrik Wiklund, Stephen Chanock, Brian E. Henderson, Douglas F. Easton, Christopher A. Haiman, Rosalind A. Eeles, David V. Conti, Zsofia Kote-Jarai
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-19 (2018)
Prostate cancer (PrCa) involves a large heritable genetic component. Here, the authors perform multivariate fine-mapping of known PrCa GWAS loci, identifying variants enriched for biological function, explaining more familial relative risk, and with
Externí odkaz:
https://doaj.org/article/36e01625dae94bd89d2103af9c540d34