検索結果 - Carla Daniela Robles‐Espinoza
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Germline MC1R status influences somatic mutation burden in melanoma 著者: Carla Daniela Robles‐Espinoza, Nicola D. Roberts, Shuyang Chen, Finbarr P. Leacy, Ludmil B. Alexandrov, Natapol Pornputtapong, Ruth Halaban, Michael Krauthammer, Rutao Cui, D. Timothy Bishop, David J. Adams
出版事項 2016Artigo -
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<i> <scp>POT</scp> 1 </i> germline mutations but not <i> <scp>TERT</scp> </i> promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma fam... 著者: Míriam Potrony, Joan Anton Puig‐Butillé, M. Ribera‐Sola, Vivek Iyer, Carla Daniela Robles‐Espinoza, Paula Aguilera, Cristina Carrera, Josep Malvehy, Célia Bádenas, Maria Teresa Landi, David J. Adams, Susana Puig
出版事項 2018Artigo -
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<i><scp>BRAF</scp></i>/<i><scp>NRAS</scp></i> wild‐type melanoma, <scp>NF</scp>1 status and sensitivity to trametinib 著者: Marco Ranzani, Constantine Alifrangis, Daniele Perna, Ken Dutton‐Regester, Antonia L. Pritchard, Kim Wong, Mamunur Rashid, Carla Daniela Robles‐Espinoza, Nicholas K. Hayward, Ultan McDermott, Mathew J. Garnett, David J. Adams
出版事項 2014Carta -
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Acral lentiginous melanoma: Basic facts, biological characteristics and research perspectives of an understudied disease 著者: Patricia Basurto‐Lozada, Christian Molina‐Aguilar, Carolina Castañeda-García, Martha Estefanía Vázquez-Cruz, Omar Isaac García-Salinas, Alethia Álvarez‐Cano, Héctor Martínez‐Said, Rodrigo Roldán‐Marín, David J. Adams, Patrícia A. Possik, Carla Daniela Robles‐Espinoza
出版事項 2020Revisão -
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RSAT 2018: regulatory sequence analysis tools 20th anniversary 著者: Nga Thi Thuy Nguyen, Bruno Contreras‐Moreira, Jaime A. Castro-Mondragón, Walter Santana-Garcia, Raúl Ossio, Carla Daniela Robles‐Espinoza, Mathieu Bahin, Samuel Collombet, Pierre Vincens, Denis Thieffry, Jacques van Helden, Alejandra Medina-Rivera, Morgane Thomas‐Chollier
出版事項 2018Artigo -
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Comprehensive Profiling of Acral Lentiginous Melanoma Reveals Downregulated Immune Activation Compared to Cutaneous Melanoma 著者: Stephanie J. Wang, Joanne Xiu, Kenneth Butcher, Brittney DeClerck, Gene H. Kim, Justin Moser, Geoffrey T. Gibney, Leonel F. Hernandez‐Aya, Jose Lutzky, Farah Abdulla, Kim Margolin, Patrícia A. Possik, Carla Daniela Robles‐Espinoza, Fumito Ito, Gino K. In
出版事項 2025Artigo -
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Germline TERT promoter mutations are rare in familial melanoma 著者: Mark Harland, Mia Petljak, Carla Daniela Robles‐Espinoza, Zhihao Ding, Nelleke A. Gruis, Remco van Doorn, Karen A. Pooley, Alison M. Dunning, Lauren G. Aoude, Karin Wadt, Anne‐Marie Gerdes, Kevin M. Brown, Nicholas K. Hayward, Julia Newton‐Bishop, David J. Adams, D. Timothy Bishop
出版事項 2015Artigo -
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BRN2 suppresses apoptosis, reprograms DNA damage repair, and is associated with a high somatic mutation burden in melanoma 著者: Katharine Herbert, Romuald Binet, Jean‐Philippe Lambert, Pakavarin Louphrasitthiphol, Halime Kalkavan, Laura Sesma-Sanz, Carla Daniela Robles‐Espinoza, Sovan Sarkar, Eda Suer, S. D. Andrews, Jagat Chauhan, Nicola D. Roberts, Mark R. Middleton, Anne‐Claude Gingras, Jean‐Yves Masson, Lionel Larue, Paola Falletta, Colin R. Goding
出版事項 2019Artigo -
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Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma 著者: Sofia Birkeälv, Mark Harland, Larissa Satiko Alcântara Sekimoto Matsuyama, Mamun Rashid, Ishan Mehta, Jonathan P. Laye, Kerstin Haase, Tracey Mell, Vivek Iyer, Carla Daniela Robles‐Espinoza, Ultan McDermott, Peter Van Loo, Marieke L. Kuijjer, Patrícia A. Possik, Silvya Stuchi Maria Engler, D. Timothy Bishop, Julia Newton‐Bishop, David J. Adams
出版事項 2022Artigo -
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Knockout of SIN3B modulates transcriptional programs and cell survival in cutaneous melanoma 著者: Larissa Satiko Alcântara Sekimoto Matsuyama, Victoria Harle, Victoria Offord, Alastair Droop, Roy Rabbie, Manik Garg, Martha Estefanía Vázquez-Cruz, Carla Daniela Robles‐Espinoza, Gemma Turner, David B. Fraser, Érica Aparecida de Oliveira, Danielle Gonçalves de Carvalho, Natasha Andressa Nogueira Jorge, Mariana Boroni, Patrícia A. Possik, David J. Adams, Silvya Stuchi Maria‐Engler
出版事項 2025Artigo -
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High-resolution functional mapping of RAD51C by saturation genome editing 著者: Rebeca Olvera-León, Fang Zhang, Victoria Offord, Yajie Zhao, Hong Kee Tan, Prashant Gupta, Tuya Pal, Carla Daniela Robles‐Espinoza, Fernanda G Arriaga-González, Larissa Satiko Alcântara Sekimoto Matsuyama, Erwan Delage, Ed Dicks, Suzana Ezquina, Charlie F Rowlands, Clare Turnbull, Paul D.P. Pharoah, John R. B. Perry, Maria Jasin, Andrew Waters, David J. Adams
出版事項 2024Artigo -
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ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma 著者: Mamunur Rashid, Michiel van der Horst, Thomas Mentzel, Francesca Butera, Ingrid Ferreira, Alena Pance, Arno Rütten, Boštjan Luzar, Zlatko Marušić, Nicolas de Saint Aubain, Jennifer S. Ko, Steven D. Billings, Sofia Chen, Marie Abi Daoud, James Hewinson, Sandra Louzada, Paul W. Harms, Guia Cerretelli, Carla Daniela Robles‐Espinoza, Rajiv M. Patel, Louise van der Weyden, Chris Bakal, Jason L. Hornick, Mark J. Arends, Thomas Brenn, David J. Adams
出版事項 2019Artigo -
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POT1 loss-of-function variants predispose to familial melanoma 著者: Carla Daniela Robles‐Espinoza, Mark Harland, Andrew Ramsay, Lauren G. Aoude, Vı́ctor Quesada, Zhihao Ding, Karen A. Pooley, Antonia L. Pritchard, Jessamy Tiffen, Mia Petljak, Jane M. Palmer, Judith Symmons, Peter A. Johansson, Mitchell Stark, Michael G. Gartside, Helen Snowden, Grant W. Montgomery, Nicholas G. Martin, Jimmy Z. Liu, Jiyeon Choi, Matthew Makowski, Kevin M. Brown, Alison M. Dunning, Thomas Keane, Carlos López‐Otín, Nelleke A. Gruis, Nicholas K. Hayward, D. Timothy Bishop, Julia Newton‐Bishop, David J. Adams
出版事項 2014Artigo -
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Melanoma models for the next generation of therapies 著者: E. Elizabeth Patton, Kristen L. Mueller, David J. Adams, Niroshana Anandasabapathy, Andrew E. Aplin, Corine Bertolotto, Marcus Bosenberg, Craig J. Ceol, Christin E. Burd, Ping Chi, Meenhard Herlyn, Sheri L. Holmen, Florian A. Karreth, Charles K. Kaufman, Shaheen Khan, Sebastian Kobold, Eleonora Leucci, Carmit Levy, David B. Lombard, Amanda W. Lund, Kerrie L. Marie, Jean‐Christophe Marine, Richard Marais, Martin McMahon, Carla Daniela Robles‐Espinoza, Ze’ev A. Ronai, Yardena Samuels, Marı́a S. Soengas, Jessie Villanueva, Ashani T. Weeraratna, Richard M. White, Iwei Yeh, Jiyue Zhu, Leonard I. Zon, Marc Hurlbert, Glenn Merlino
出版事項 2021Revisão -
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Nonsense Mutations in the Shelterin Complex Genes ACD and TERF2IP in Familial Melanoma 著者: Lauren G. Aoude, Antonia L. Pritchard, Carla Daniela Robles‐Espinoza, Karin Wadt, Mark Harland, Jiyeon Choi, Michael G. Gartside, Vı́ctor Quesada, Peter A. Johansson, Jane M. Palmer, Andrew Ramsay, Xijun Zhang, Kristine Jones, Judith Symmons, Elizabeth A. Holland, Helen Schmid, Vanessa Bonazzi, Susan L. Woods, Ken Dutton‐Regester, Mitchell Stark, Helen Snowden, Remco van Doorn, Grant W. Montgomery, Nicholas G. Martin, Thomas Keane, Carlos López-Otı́n, Anne‐Marie Gerdes, Håkan Olsson, Christian Ingvar, Åke Borg, Nelleke A. Gruis, Jeffrey M. Trent, Göran Jönsson, D. Timothy Bishop, Graham J. Mann, Julia Newton‐Bishop, Kevin M. Brown, David J. Adams, Nicholas K. Hayward
出版事項 2014Artigo -
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Comprehensive Study of the Clinical Phenotype of Germline<i>BAP1</i>Variant-Carrying Families Worldwide 著者: Sebastian Walpole, Antonia L. Pritchard, Colleen M. Cebulla, Robert Pilarski, Meredith Stautberg, Frederick H. Davidorf, Arnaud de la Fouchardière, Odile Cabaret, Lisa Golmard, Dominique Stoppa‐Lyonnet, Erin M. Garfield, Ching-Ni Jenny Njauw, Mitchell Cheung, Joni A. Turunen, Pauliina Repo, Reetta-Stiina Järvinen, Remco van Doorn, Martine J. Jager, Gregorius P. M. Luyten, Marina Marinkovic, Cindy Chau, Míriam Potrony, Veronica Höiom, Hildur Helgadóttir, Lorenza Pastorino, William Bruno, Virginia Andreotti, Bruna Dalmasso, Giulia Ciccarese, Paola Queirolo, Luca Mastracci, Karin Wadt, Jens Folke Kiilgaard, Michael R. Speicher, Natasha van Poppelen, Emine Kılıç, Rana’a T. Al‐Jamal, Irma Dianzani, Marta Betti, Carsten Bergmann, Sandro Santagata, Sonika Dahiya, Saleem Taibjee, Jo Burke, Nicola Poplawski, Sally J. O’Shea, Julia Newton‐Bishop, Julian Adlard, David J. Adams, Anne-Marie Lane, Ivana K. Kim, Sonja Klebe, Hilary Racher, J. William Harbour, Michael L. Nickerson, Rajmohan Murali, Jane M. Palmer, Madeleine Howlie, Judith Symmons, Hayley R. Hamilton, Sunil Warrier, William Glasson, Peter A. Johansson, Carla Daniela Robles‐Espinoza, Raúl Ossio, Annelies de Klein, Susana Puig, Paola Ghiorzo, Maartje Nielsen, Tero Kivelä, Hensin Tsao, Joseph R. Testa, Pedram Gerami, Marc‐Henri Stern, Brigitte Bressac–de Paillerets, Mohamed H. Abdel‐Rahman, Nicholas K. Hayward
出版事項 2018Revisão
関連主題
Biology
Genetics
Gene
Medicine
Melanoma
Cancer research
Computational biology
Mutation
Germline
Germline mutation
Disease
Genome
Internal medicine
Pathology
Phenotype
Acral lentiginous melanoma
Transcription factor
BAP1
Bioinformatics
Cancer
Cell biology
Computer science
DNA
DNA damage
Dermatology
Gene expression
Genomics
Genotype
Sequence analysis
Telomerase