Inherited predisposition to MDS/AML

por Rio Machin, Ana, Tawana, Kiran, Fitzgibbon, Jude
Publicado 2018

Endogenous retroviruses are a source of enhancers with oncogenic potential in acute myeloid leukaemia

por Deniz, Özgen, Ahmed, Mamataz, Todd, Christopher D., Rio-Machin, Ana, Dawson, Mark A., Branco, Miguel R.
Publicado 2020

A dual role for the RNA helicase DHX34 in NMD and pre-mRNA splicing and its function in hematopoietic differentiation

por Hug, Nele, Aitken, Stuart, Longman, Dasa, Raab, Michaela, Armes, Hannah, Mann, Abigail R., Rio-Machin, Ana, Fitzgibbon, Jude, Rouault-Pierre, Kevin, Cáceres, Javier F.
Publicado 2022

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

por Richart, Laia, Carrillo-de Santa Pau, Enrique, Río-Machín, Ana, de Andrés, Mónica P., Cigudosa, Juan C., Lobo, Víctor J. Sánchez-Arévalo, Real, Francisco X.
Publicado 2016

A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure

por Tummala, Hemanth, Walne, Amanda J., Bewicke-Copley, Findlay, Ellison, Alicia, Pontikos, Nikolas, Bridger, Maria G., Rio-Machin, Ana, Sidhu, Jasmin K., Wang, Jun, Hasle, Henrik, Fitzgibbon, Jude, Vulliamy, Tom, Dokal, Inderjeet
Publicado 2020

Acquired somatic variants in inherited myeloid malignancies

por Armes, Hannah, Rio-Machin, Ana, Krizsán, Szilvia, Bödör, Csaba, Kaya, Fadimana, Bewicke-Copley, Findlay, Alnajar, Jenna, Walne, Amanda, Péterffy, Borbála, Tummala, Hemanth, Rouault-Pierre, Kevin, Dokal, Inderjeet, Vulliamy, Tom, Fitzgibbon, Jude
Publicado 2022

Proteomic and genomic integration identifies kinase and differentiation determinants of kinase inhibitor sensitivity in leukemia cells

por Casado, Pedro, Wilkes, Edmund H., Miraki-Moud, Farideh, Hadi, Marym Mohammad, Rio-Machin, Ana, Rajeeve, Vinothini, Pike, Rebecca, Iqbal, Sameena, Marfa, Santiago, Lea, Nicholas, Best, Steven, Gribben, John, Fitzgibbon, Jude, Cutillas, Pedro R.
Publicado 2018

CKS1 inhibition reveals vulnerabilities in leukemic stem cells with concomitant protection of healthy hematopoietic stem cells

por Grey, William, Rio-Machin, Ana, Casado-Izquierdo, Pedro, Grönroos, Eva, Ali, Sara, Miettinen, Juho J., Bewicke-Copley, Findley, Parsons, Alun, Heckman, Caroline A., Swanton, Charles, Cutillas, Pedro, Gribben, John, Fitzgibbon, Jude, Bonnet, Dominique
Publicado 2022

Germline ERCC excision repair 6 like 2 ( ERCC6L2 ) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment

por Armes, Hannah, Bewicke‐Copley, Findlay, Rio‐Machin, Ana, Di Bella, Doriana, Philippe, Céline, Wozniak, Anna, Tummala, Hemanth, Wang, Jun, Ezponda, Teresa, Prosper, Felipe, Dokal, Inderjeet, Vulliamy, Tom, Kilpivaara, Outi, Wartiovaara‐Kautto, Ulla, Fitzgibbon, Jude, Rouault‐Pierre, Kevin
Publicado 2022

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

por Casado, Pedro, Rio-Machin, Ana, Miettinen, Juho J., Bewicke-Copley, Findlay, Rouault-Pierre, Kevin, Krizsan, Szilvia, Parsons, Alun, Rajeeve, Vinothini, Miraki-Moud, Farideh, Taussig, David C., Bödör, Csaba, Gribben, John, Heckman, Caroline, Fitzgibbon, Jude, Cutillas, Pedro R.
Publicado 2023

Genomic profiling reveals spatial intra-tumor heterogeneity in follicular lymphoma

por Araf, Shamzah, Wang, Jun, Korfi, Koorosh, Pangault, Celine, Kotsiou, Eleni, Rio-Machin, Ana, Rahim, Tahrima, Heward, James, Clear, Andrew, Iqbal, Sameena, Davies, Jeff K., Johnson, Peter, Calaminici, Maria, Montoto, Silvia, Auer, Rebecca, Chelala, Claude, Gribben, John G., Graham, Trevor A., Fest, Thierry, Fitzgibbon, Jude, Okosun, Jessica
Publicado 2018

Correction: Genomic profiling reveals spatial intra-tumor heterogeneity in follicular lymphoma

por Araf, Shamzah, Wang, Jun, Korfi, Koorosh, Pangault, Celine, Kotsiou, Eleni, Rio-Machin, Ana, Rahim, Tahrima, Heward, James, Clear, Andrew, Iqbal, Sameena, Davies, Jeff K., Johnson, Peter, Calaminici, Maria, Montoto, Silvia, Auer, Rebecca, Chelala, Claude, Gribben, John G., Graham, Trevor A., Fest, Thierry, Fitzgibbon, Jude, Okosun, Jessica
Publicado 2019

Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants

por Tummala, Hemanth, Dokal, Arran D., Walne, Amanda, Ellison, Alicia, Cardoso, Shirleny, Amirthasigamanipillai, Saranha, Kirwan, Michael, Browne, Isobel, Sidhu, Jasmin K., Rajeeve, Vinothini, Rio-Machin, Ana, Seraihi, Ahad Al, Duncombe, Andrew S., Jenner, Matthew, Smith, Owen P., Enright, Helen, Norton, Alice, Aksu, Tekin, Özbek, Namık Yaşar, Pontikos, Nikolas, Cutillas, Pedro, Dokal, Inderjeet, Vulliamy, Tom
Publicado 2018

GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML

por Al Seraihi, Ahad F., Rio-Machin, Ana, Tawana, Kiran, Bödör, Csaba, Wang, Jun, Nagano, Ai, Heward, James A., Iqbal, Sameena, Best, Steven, Lea, Nicholas, McLornan, Donal, Kozyra, Emilia J., Wlodarski, Marcin W., Niemeyer, Charlotte M., Scott, Hamish, Hahn, Chris, Ellison, Alicia, Tummala, Hemanth, Cardoso, Shirleny Romualdo, Vulliamy, Tom, Dokal, Inderjeet, Butler, Tom, Smith, Matthew, Cavenagh, Jamie, Fitzgibbon, Jude
Publicado 2018

The transcription factor DDIT3 is a potential driver of dyserythropoiesis in myelodysplastic syndromes

por Berastegui, Nerea, Ainciburu, Marina, Romero, Juan P., Garcia-Olloqui, Paula, Alfonso-Pierola, Ana, Philippe, Céline, Vilas-Zornoza, Amaia, San Martin-Uriz, Patxi, Ruiz-Hernández, Raquel, Abarrategi, Ander, Ordoñez, Raquel, Alignani, Diego, Sarvide, Sarai, Castro-Labrador, Laura, Lamo-Espinosa, José M., San-Julian, Mikel, Jimenez, Tamara, López-Cadenas, Félix, Muntion, Sandra, Sanchez-Guijo, Fermin, Molero, Antonieta, Montoro, Maria Julia, Tazón, Bárbara, Serrano, Guillermo, Diaz-Mazkiaran, Aintzane, Hernaez, Mikel, Huerga, Sofía, Bewicke-Copley, Findlay, Rio-Machin, Ana, Maurano, Matthew T., Díez-Campelo, María, Valcarcel, David, Rouault-Pierre, Kevin, Lara-Astiaso, David, Ezponda, Teresa, Prosper, Felipe
Publicado 2022

The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

por Rio-Machin, Ana, Vulliamy, Tom, Hug, Nele, Walne, Amanda, Tawana, Kiran, Cardoso, Shirleny, Ellison, Alicia, Pontikos, Nikolas, Wang, Jun, Tummala, Hemanth, Al Seraihi, Ahad Fahad H., Alnajar, Jenna, Bewicke-Copley, Findlay, Armes, Hannah, Barnett, Michael, Bloor, Adrian, Bödör, Csaba, Bowen, David, Fenaux, Pierre, Green, Andrew, Hallahan, Andrew, Hjorth-Hansen, Henrik, Hossain, Upal, Killick, Sally, Lawson, Sarah, Layton, Mark, Male, Alison M., Marsh, Judith, Mehta, Priyanka, Mous, Rogier, Nomdedéu, Josep F., Owen, Carolyn, Pavlu, Jiri, Payne, Elspeth M., Protheroe, Rachel E., Preudhomme, Claude, Pujol-Moix, Nuria, Renneville, Aline, Russell, Nigel, Saggar, Anand, Sciuccati, Gabriela, Taussig, David, Toze, Cynthia L., Uyttebroeck, Anne, Vandenberghe, Peter, Schlegelberger, Brigitte, Ripperger, Tim, Steinemann, Doris, Wu, John, Mason, Joanne, Page, Paula, Akiki, Susanna, Reay, Kim, Cavenagh, Jamie D., Plagnol, Vincent, Caceres, Javier F., Fitzgibbon, Jude, Dokal, Inderjeet
Publicado 2020

Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41

por Homan, Claire C., Drazer, Michael W., Yu, Kai, Lawrence, David M., Feng, Jinghua, Arriola-Martinez, Luis, Pozsgai, Matthew J., McNeely, Kelsey E., Ha, Thuong, Venugopal, Parvathy, Arts, Peer, King-Smith, Sarah L., Cheah, Jesse, Armstrong, Mark, Wang, Paul, Bödör, Csaba, Cantor, Alan B., Cazzola, Mario, Degelman, Erin, DiNardo, Courtney D., Duployez, Nicolas, Favier, Remi, Fröhling, Stefan, Rio-Machin, Ana, Klco, Jeffery M., Krämer, Alwin, Kurokawa, Mineo, Lee, Joanne, Malcovati, Luca, Morgan, Neil V., Natsoulis, Georges, Owen, Carolyn, Patel, Keyur P., Preudhomme, Claude, Raslova, Hana, Rienhoff, Hugh, Ripperger, Tim, Schulte, Rachael, Tawana, Kiran, Velloso, Elvira, Yan, Benedict, Kim, Erika, Sood, Raman, Hsu, Amy P., Holland, Steven M., Phillips, Kerry, Poplawski, Nicola K., Babic, Milena, Wei, Andrew H., Forsyth, Cecily, Mar Fan, Helen, Lewis, Ian D., Cooney, Julian, Susman, Rachel, Fox, Lucy C., Blombery, Piers, Singhal, Deepak, Hiwase, Devendra, Phipson, Belinda, Schreiber, Andreas W., Hahn, Christopher N., Scott, Hamish S., Liu, Paul, Godley, Lucy A., Brown, Anna L.
Publicado 2023