Ana Rio-Machin

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 22

Top Topics

Acute Myeloid Leukemia

Genome Wide Association

Transcription Factor

Top Venues

Nature communications

British journal of haematology

Signal transduction and targeted therapy

This page only lists publications with an associated author ORCID identifier.

Publications

Ana Rio-Machin
GATA2 deficiency syndrome: A compensatory mechanism gone awry? British journal of haematology (2024)
Ana Rio-Machin
GATA2 deficiency syndrome: A compensatory mechanism gone awry? British journal of haematology 205 (2) (2024)
Ana Rio-Machin
GATA2 deficiency syndrome: A compensatory mechanism gone awry? British journal of haematology 205 (2) (2024)
Vilma Dembitz, Hannah Lawson, Richard Burt, Sirisha Natani, Céline Philippe, Sophie C James, Samantha Atkinson, Jozef Durko, Lydia M Wang, Joana Campos, Aoife M S Magee, Keith Woodley, Michael James Austin, Ana Rio-Machin, Pedro Casado, Findlay Bewicke-Copley, Giovanny Rodriguez Blanco, Diego Pereira-Martins, Lieve Oudejans, Emeline Boet, Alex von Kriegsheim, Juerg Schwaller, Andrew J Finch, Bela Patel, Jean-Emmanuel Sarry, Jerome Tamburini, Jan Jacob Schuringa, Lori Hazlehurst, John A Copland Iii, Mariia Yuneva, Barrie Peck, Pedro Rodriguez Cutillas, Jude Fitzgibbon, Kevin Rouault-Pierre, Kamil R Kranc, Paolo Gallipoli
Stearoyl-CoA desaturase inhibition is toxic to acute myeloid leukemia displaying high levels of the de novo fatty acid biosynthesis and desaturation. Leukemia (2024)
Pedro Casado, Ana Rio-Machin, Juho J Miettinen, Findlay Bewicke-Copley, Kevin Rouault-Pierre, Szilvia Krizsán, Alun Parsons, Vinothini Rajeeve, Farideh Miraki-Moud, David C Taussig, Csaba Bödör, John Gribben, Caroline A Heckman, Jude Fitzgibbon, Pedro Rodriguez Cutillas
Integrative phosphoproteomics defines two biologically distinct groups of KMT2A rearranged acute myeloid leukaemia with different drug response phenotypes. Signal transduction and targeted therapy 8 (1) (2023)
Pedro Casado, Ana Rio-Machin, Juho J Miettinen, Findlay Bewicke-Copley, Kevin Rouault-Pierre, Szilvia Krizsán, Alun Parsons, Vinothini Rajeeve, Farideh Miraki-Moud, David C Taussig, Csaba Bödör, John Gribben, Caroline A Heckman, Jude Fitzgibbon, Pedro Rodriguez Cutillas
Integrative phosphoproteomics defines two biologically distinct groups of KMT2A rearranged acute myeloid leukaemia with different drug response phenotypes. Signal transduction and targeted therapy 8 (1) (2023)
Pedro Casado, Ana Rio-Machin, Juho J Miettinen, Findlay Bewicke-Copley, Kevin Rouault-Pierre, Szilvia Krizsán, Alun Parsons, Vinothini Rajeeve, Farideh Miraki-Moud, David C Taussig, Csaba Bödör, John Gribben, Caroline A Heckman, Jude Fitzgibbon, Pedro Rodriguez Cutillas
Integrative phosphoproteomics defines two biologically distinct groups of KMT2A rearranged acute myeloid leukaemia with different drug response phenotypes. Signal transduction and targeted therapy 8 (1) (2023)
Pedro Casado, Ana Rio-Machin, Juho J Miettinen, Findlay Bewicke-Copley, Kevin Rouault-Pierre, Szilvia Krizsán, Alun Parsons, Vinothini Rajeeve, Farideh Miraki-Moud, David C Taussig, Csaba Bödör, John Gribben, Caroline A Heckman, Jude Fitzgibbon, Pedro Rodriguez Cutillas
Integrative phosphoproteomics defines two biologically distinct groups of KMT2A rearranged acute myeloid leukaemia with different drug response phenotypes. Signal transduction and targeted therapy 8 (1) (2023)
Ana Rio-Machin
ATM serine/threonine kinase germline mutations in chronic lymphocytic leukaemia come in different flavours. British journal of haematology 199 (3) (2022)
Nerea Berastegui, Marina Ainciburu, Juan P Romero, Paula Garcia-Olloqui, Ana Alfonso-Pierola, Céline Philippe, Amaia Vilas-Zornoza, Patxi San Martin-Uriz, Raquel Ruiz-Hernandez, Ander Abarrategi, Raquel Ordoñez, Diego Alignani, Sarai Sarvide, Laura Castro-Labrador, José M Lamo-Espinosa, Mikel San-Julián, Tamara Jimenez, Félix López-Cadenas, Sandra Muntion, Fermin M Sanchez-Guijo, Antonieta Molero, Maria Julia Montoro, Bárbara Tazón, Guillermo Serrano, Aintzane Diaz-Mazkiaran, Mikel Hernaez, Sofía Huerga, Findlay Bewicke-Copley, Ana Rio-Machin, Matthew T Maurano, Maria Diez Campelo, David Valcarcel, Kevin Rouault-Pierre, David Lara-Astiaso, Teresa Ezponda, Felipe Prosper
The transcription factor DDIT3 is a potential driver of dyserythropoiesis in myelodysplastic syndromes. Nature communications 13 (1) (2022)
Ana Rio-Machin, Jude Fitzgibbon
DDX41: the poster child for familial AML. Blood 140 (7) (2022)
Hannah Armes, Findlay Bewicke-Copley, Ana Rio-Machin, Doriana Di Bella, Céline Philippe, Anna Wozniak, Hemanth Tummala, Jun Wang, Teresa Ezponda, Felipe Prosper, Inderjeet Dokal, Tom Vulliamy, Outi Kilpivaara, Ulla Wartiovaara-Kautto, Jude Fitzgibbon, Kevin Rouault-Pierre
Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment. British journal of haematology 199 (5) (2022)
Hannah Armes, Ana Rio-Machin, Szilvia Krizsán, Csaba Bödör, Fadimana Kaya, Findlay Bewicke-Copley, Jenna Alnajar, Amanda Walne, Borbála Péterffy, Hemanth Tummala, Kevin Rouault-Pierre, Inderjeet Dokal, Tom Vulliamy, Jude Fitzgibbon
Acquired somatic variants in inherited myeloid malignancies. Leukemia 36 (5) (2022)
Nerea Berastegui, Marina Ainciburu, Juan P Romero, Paula Garcia-Olloqui, Ana Alfonso-Pierola, Céline Philippe, Amaia Vilas-Zornoza, Patxi San Martin-Uriz, Raquel Ruiz-Hernandez, Ander Abarrategi, Raquel Ordoñez, Diego Alignani, Sarai Sarvide, Laura Castro-Labrador, José M Lamo-Espinosa, Mikel San-Julián, Tamara Jimenez, Félix López-Cadenas, Sandra Muntion, Fermin M Sanchez-Guijo, Antonieta Molero, Maria Julia Montoro, Bárbara Tazón, Guillermo Serrano, Aintzane Diaz-Mazkiaran, Mikel Hernaez, Sofía Huerga, Findlay Bewicke-Copley, Ana Rio-Machin, Matthew T Maurano, Maria Diez Campelo, David Valcarcel, Kevin Rouault-Pierre, David Lara-Astiaso, Teresa Ezponda, Felipe Prosper
The transcription factor DDIT3 is a potential driver of dyserythropoiesis in myelodysplastic syndromes. Nature communications 13 (1) (2022)
William Grey, Ana Rio-Machin, Pedro Casado, Eva Grönroos, Sara Ali, Juho J Miettinen, Findlay Bewicke-Copley, Alun Parsons, Caroline A Heckman, Charles Swanton, Pedro Rodriguez Cutillas, John G Gribben, Jude Fitzgibbon, Dominique Bonnet
CKS1 inhibition depletes leukemic stem cells and protects healthy hematopoietic stem cells in acute myeloid leukemia. Science translational medicine 14 (650) (2022)
Nerea Berastegui, Marina Ainciburu, Juan P Romero, Paula Garcia-Olloqui, Ana Alfonso-Pierola, Céline Philippe, Amaia Vilas-Zornoza, Patxi San Martin-Uriz, Raquel Ruiz-Hernandez, Ander Abarrategi, Raquel Ordoñez, Diego Alignani, Sarai Sarvide, Laura Castro-Labrador, José M Lamo-Espinosa, Mikel San-Julián, Tamara Jimenez, Félix López-Cadenas, Sandra Muntion, Fermin M Sanchez-Guijo, Antonieta Molero, Maria Julia Montoro, Bárbara Tazón, Guillermo Serrano, Aintzane Diaz-Mazkiaran, Mikel Hernaez, Sofía Huerga, Findlay Bewicke-Copley, Ana Rio-Machin, Matthew T Maurano, Maria Diez Campelo, David Valcarcel, Kevin Rouault-Pierre, David Lara-Astiaso, Teresa Ezponda, Felipe Prosper
The transcription factor DDIT3 is a potential driver of dyserythropoiesis in myelodysplastic syndromes. Nature communications 13 (1) (2022)
Nele Hug, Stuart Aitken, Dasa Longman, Michaela Raab, Hannah Armes, Abigail R Mann, Ana Rio-Machin, Jude Fitzgibbon, Kevin Rouault-Pierre, Javier F Cáceres
A dual role for the RNA helicase DHX34 in NMD and pre-mRNA splicing and its function in hematopoietic differentiation. RNA (New York, N.Y.) 28 (9) (2022)
Nerea Berastegui, Marina Ainciburu, Juan P Romero, Paula Garcia-Olloqui, Ana Alfonso-Pierola, Céline Philippe, Amaia Vilas-Zornoza, Patxi San Martin-Uriz, Raquel Ruiz-Hernandez, Ander Abarrategi, Raquel Ordoñez, Diego Alignani, Sarai Sarvide, Laura Castro-Labrador, José M Lamo-Espinosa, Mikel San-Julián, Tamara Jimenez, Félix López-Cadenas, Sandra Muntion, Fermin M Sanchez-Guijo, Antonieta Molero, Maria Julia Montoro, Bárbara Tazón, Guillermo Serrano, Aintzane Diaz-Mazkiaran, Mikel Hernaez, Sofía Huerga, Findlay Bewicke-Copley, Ana Rio-Machin, Matthew T Maurano, Maria Diez Campelo, David Valcarcel, Kevin Rouault-Pierre, David Lara-Astiaso, Teresa Ezponda, Felipe Prosper
The transcription factor DDIT3 is a potential driver of dyserythropoiesis in myelodysplastic syndromes. Nature communications 13 (1) (2022)
Hemanth Tummala, Amanda J Walne, Findlay Bewicke-Copley, Alicia Ellison, Nikolas Pontikos, Maria G Bridger, Ana Rio-Machin, Jasmin K Sidhu, Jun Wang, Henrik Hasle, Jude Fitzgibbon, Tom Vulliamy, Inderjeet Dokal
A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure. Proceedings of the National Academy of Sciences of the United States of America 117 (29) (2020)
Ana Rio-Machin, Tom Vulliamy, Nele Hug, Amanda Walne, Kiran Tawana, Shirleny Cardoso, Alicia Ellison, Nikolas Pontikos, Jun Wang, Hemanth Tummala, Ahad Fahad H Al Seraihi, Jenna Alnajar, Findlay Bewicke-Copley, Hannah Armes, Michael Barnett, Adrian Bloor, Csaba Bödör, David Bowen, Pierre Fenaux, Andrew Green, Andrew Hallahan, Henrik Hjorth-Hansen, Upal Hossain, Sally Killick, Sarah Lawson, Mark Layton, Alison M Male, Judith Marsh, Priyanka Mehta, Rogier Mous, Josep F Nomdedéu, Carolyn Owen, Jiří Pavlů, Elspeth M Payne, Rachel E Protheroe, Claude Preudhomme, Nuria Pujol-Moix, Aline Renneville, Nigel Russell, Anand Saggar, Gabriela Sciuccati, David Taussig, Cynthia L Toze, Anne Uyttebroeck, Peter Vandenberghe, Brigitte Schlegelberger, Tim Ripperger, Doris Steinemann, John Wu, Joanne Mason, Paula Page, Susanna Akiki, Kim Reay, Jamie D Cavenagh, Vincent Plagnol, Javier F Caceres, Jude Fitzgibbon, Inderjeet Dokal
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants. Nature communications 11 (1) (2020)
Özgen Deniz, Mamataz Ahmed, Christopher D Todd, Ana Rio-Machin, Mark A Dawson, Miguel Ramos Branco
Endogenous retroviruses are a source of enhancers with oncogenic potential in acute myeloid leukaemia. Nature communications 11 (1) (2020)
Sarah Charrot, Hannah Armes, Ana Rio-Machin, Jude Fitzgibbon
AML through the prism of molecular genetics. British journal of haematology 188 (1) (2020)