Výsledky vyhledávání - Ana Rio‐Machín

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  1. 1
    BPTF is required for c-MYC transcriptional activity and in vivo tumorigenesis

    BPTF is required for c-MYC transcriptional activity and in vivo tumorigenesis Autor Laia Richart, Enrique Carrillo de Santa Pau, Ana Rio‐Machín, Mónica P. de Andrés, Juan C. Cigudosa, Víctor J. Sánchez‐Arévalo Lobo, Francisco X. Real

    Vydáno 2016
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  2. 2
    Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia

    Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia Autor Shirleny Cardoso, Gavin Ryan, Amanda J. Walne, Alicia Ellison, Robert Lowe, Hemanth Tummala, Ana Rio‐Machín, Laura C. Collopy, Ahad Al Seraihi, Yvonne Wallis, Paula Page, Susanna Akiki, Jude Fitzgibbon, Tom Vulliamy, Inderjeet Dokal

    Vydáno 2016
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  3. 3
    Proteomic and genomic integration identifies kinase and differentiation determinants of kinase inhibitor sensitivity in leukemia cells

    Proteomic and genomic integration identifies kinase and differentiation determinants of kinase inhibitor sensitivity in leukemia cells Autor Pedro Casado, Edmund H. Wilkes, Farideh Miraki‐Moud, Marym Mohammad Hadi, Ana Rio‐Machín, Vinothini Rajeeve, Rebecca Pike, Sameena Iqbal, Santiago Marfà, Nicholas Lea, Steven Best, John G. Gribben, Jude Fitzgibbon, Pedro R. Cutillas

    Vydáno 2018
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  4. 4
    Integrative phosphoproteomics defines two biologically distinct groups of KMT2A rearranged acute myeloid leukaemia with different drug response phenotypes

    Integrative phosphoproteomics defines two biologically distinct groups of KMT2A rearranged acute myeloid leukaemia with different drug response phenotypes Autor Pedro Casado, Ana Rio‐Machín, Juho J. Miettinen, Findlay Bewicke‐Copley, Kevin Rouault‐Pierre, Szilvia Krizsán, Alun Parsons, Vinothini Rajeeve, Farideh Miraki‐Moud, David Taussig, Csaba Bödör, John G. Gribben, Caroline A. Heckman, Jude Fitzgibbon, Pedro R. Cutillas

    Vydáno 2023
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  5. 5
    Genomic profiling reveals spatial intra-tumor heterogeneity in follicular lymphoma

    Genomic profiling reveals spatial intra-tumor heterogeneity in follicular lymphoma Autor Shamzah Araf, Jun Wang, Koorosh Korfi, Céline Pangault, Eleni Kotsiou, Ana Rio‐Machín, T. Rahim, James A. Heward, Andrew Clear, Sameena Iqbal, Jeff Davies, Peter Johnson, Maria Calaminici, Silvia Montoto, Rebecca Auer, Claude Chelala, John G. Gribben, Trevor A. Graham, Thierry Fest, Jude Fitzgibbon, Jessica Okosun

    Vydáno 2018
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  6. 6
    Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic <i>ERCC6L2</i> variants

    Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic <i>ERCC6L2</i> variants Autor Hemanth Tummala, Arran Dokal, Amanda J. Walne, Alicia Ellison, Shirleny Cardoso, Saranha Amirthasigamanipillai, Michael Kirwan, Isobel Browne, Jasmin Sidhu, Vinothini Rajeeve, Ana Rio‐Machín, Ahad Al Seraihi, Andrew Duncombe, Matthew Jenner, Owen Smith, Helen Enright, Alice Norton, Tekin Aksu, Namık Yaşar Özbek, Nikolas Pontikos, Pedro R. Cutillas, Inderjeet Dokal, Tom Vulliamy

    Vydáno 2018
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  7. 7
    GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML

    GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML Autor Ahad Al Seraihi, Ana Rio‐Machín, Kiran Tawana, Csaba Bödör, Jun Wang, A. Nagano, James A. Heward, Sameena Iqbal, Steven Best, Nicholas Lea, Donal P. McLornan, Emilia J. Kozyra, Marcin W. Włodarski, Charlotte M. Niemeyer, Hamish S. Scott, Christopher N Hahn, Alicia Ellison, Hemanth Tummala, Shirleny Cardoso, Tom Vulliamy, Inderjeet Dokal, Tom Butler, Matthew Smith, Jamie Cavenagh, Jude Fitzgibbon

    Vydáno 2018
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  8. 8
    Whole-Exome Sequencing Identifies MDH2 as a New Familial Paraganglioma Gene

    Whole-Exome Sequencing Identifies MDH2 as a New Familial Paraganglioma Gene Autor Alberto Cascón, Iñaki Comino‐Méndez, María Currás-Freixes, Aguirre A. de Cubas, Laura Contreras, Susan Richter, Mirko Peitzsch, Veronika Mančíková, Lucía Inglada‐Pérez, Andrés Pérez‐Barrios, María Calatayud, Sharona Azriel, Rosa Villar-Vicente, Javier Aller, Fernando Setién, Sebastián Morán, Juan F. Garcı́a, Ana Rio‐Machín, Rocío Letón, Álvaro Gómez-Graña, María Apellániz-Ruiz, Giovanna Roncador, Manel Esteller, Cristina Rodríguez‐Antona, Jorgina Satrústegui, Graeme Eisenhofer, Miguel Urioste, Mercedes Robledo

    Vydáno 2015
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  9. 9
    The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

    The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants Autor Ana Rio‐Machín, Tom Vulliamy, Nele Hug, Amanda J. Walne, Kiran Tawana, Shirleny Cardoso, Alicia Ellison, Nikolas Pontikos, Jun Wang, Hemanth Tummala, Ahad Al Seraihi, Jenna Alnajar, Findlay Bewicke‐Copley, Hannah Armes, Michael J. Barnett, Adrian Bloor, Csaba Bödör, David Bowen, Pierre Fenaux, Andrew Green, Andrew R. Hallahan, Henrik Hjorth‐Hansen, Upal Hossain, Sally Killick, Sarah Lawson, Mark Layton, Alison Male, Judith Marsh, Priyanka Mehta, Rogier Mous, Josep Nomdedéu, Carolyn Owen, Jiří Pavlů, Elspeth Payne, Rachel Protheroe, Claude Preudhomme, Núria Pujol‐Moix, Aline Renneville, Nigel H. Russell, Anand Saggar, Gabriela Sciuccati, David Taussig, Cynthia L. Toze, Anne Uyttebroeck, Peter Vandenberghe, Brigitte Schlegelberger, Tim Ripperger, Doris Steinemann, John K. Wu, Joanne Mason, Paula Page, Susanna Akiki, Kim Reay, Jamie Cavenagh, Vincent Plagnol, Javier F. Cáceres, Jude Fitzgibbon, Inderjeet Dokal

    Vydáno 2020
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  10. 10
    Somatic Mutational Landscape of Hereditary Hematopoietic Malignancies Associated with Germline Variants in <i>RUNX1</i>, <i>GATA2</i> and <i>DDX41</i>

    Somatic Mutational Landscape of Hereditary Hematopoietic Malignancies Associated with Germline Variants in <i>RUNX1</i>, <i>GATA2</i> and <i>DDX41</i> Autor Anna Brown, Claire C. Homan, Michael W. Drazer, Kai Yu, David Lawrence, Jinghua Feng, Luis Arriola‐Martinez, Matthew Pozsgai, Kelsey E. McNeely, Thuong Ha, Parvathy Venugopal, Peer Arts, Sarah L. King‐Smith, Jesse Cheah, M. Armstrong, Csaba Bödör, Paul Wang, Alan Cantor, Mario Cazzola, Erin Degelman, Courtney D. DiNardo, Nicolas Duployez, Rémi Favier, Stefan Fröhling, Ana Rio‐Machín, Jeffery M. Klco, Alwin Krämer, Mineo Kurokawa, Joanne Lee, Luca Malcovati, Neil V. Morgan, Georges Natsoulis, Carolyn Owen, Keyur P. Patel, Claude Preudhomme, Hana Raslová, Hugh Young Rienhoff, Tim Ripperger, Rachael Schulte, Kiran Tawana, Elvira Deolinda Rodrigues Pereira Velloso, Benedict Yan, Raman Sood, Amy P. Hsu, Steven M. Holland, Kerry Phillips, Nicola Poplawski, Milena Babic, Erika M Kwon Kim, Andrew H. Wei, Cecily Forsyth, Helen Mar Fan, Ian D. Lewis, Julian Cooney, Rachel Susman, Lucy C. Fox, Piers Blombery, Deepak Singhal, Devendra Hiwase, Andreas Schreiber, Christopher N Hahn, Hamish S. Scott, Paul Liu, Lucy A. Godley

    Vydáno 2022
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  11. 11
    Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in <i>RUNX1</i>, <i>GATA2</i>, and <i>DDX41</i>

    Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in <i>RUNX1</i>, <i>GATA2</i>, and <i>DDX41</i> Autor Claire C. Homan, Michael W. Drazer, Kai Yu, David Lawrence, Jinghua Feng, Luis Arriola‐Martinez, Matthew Pozsgai, Kelsey E. McNeely, Thuong Ha, Parvathy Venugopal, Peer Arts, Sarah L. King‐Smith, Jesse Cheah, M. Armstrong, Paul Wang, Csaba Bödör, Alan Cantor, Mario Cazzola, Erin Degelman, Courtney D. DiNardo, Nicolas Duployez, Rémi Favier, Stefan Fröhling, Ana Rio‐Machín, Jeffery M. Klco, Alwin Krämer, Mineo Kurokawa, Joanne Lee, Luca Malcovati, Neil V. Morgan, Georges Natsoulis, Carolyn Owen, Keyur P. Patel, Claude Preudhomme, Hana Raslová, Hugh Young Rienhoff, Tim Ripperger, Rachael Schulte, Kiran Tawana, Elvira Deolinda Rodrigues Pereira Velloso, Benedict Yan, Erika Kim, Raman Sood, Amy P. Hsu, Steven M. Holland, Kerry Phillips, Nicola Poplawski, Milena Babic, Andrew H. Wei, Cecily Forsyth, Helen Mar Fan, Ian D. Lewis, Julian Cooney, Rachel Susman, Lucy C. Fox, Piers Blombery, Deepak Singhal, Devendra Hiwase, Belinda Phipson, Andreas Schreiber, Christopher N Hahn, Hamish S. Scott, Paul Liu, Lucy A. Godley, Anna Brown

    Vydáno 2023
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