D
Diana Carvalho
Researcher at Institute of Cancer Research
Publications - 41
Citations - 2899
Diana Carvalho is an academic researcher from Institute of Cancer Research. The author has contributed to research in topics: Glioma & Biology. The author has an hindex of 14, co-authored 31 publications receiving 2048 citations. Previous affiliations of Diana Carvalho include University of Coimbra & RMIT University.
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Journal ArticleDOI
Integrated Molecular Meta-Analysis of 1,000 Pediatric High-Grade and Diffuse Intrinsic Pontine Glioma
Alan Mackay,Anna Burford,Diana Carvalho,Elisa Izquierdo,Janat Fazal-Salom,Kathryn R. Taylor,Kathryn R. Taylor,Lynn Bjerke,Matthew Clarke,Mara Vinci,Meera Nandhabalan,Sara Temelso,Sergey Popov,Sergey Popov,Valeria Molinari,Pichai Raman,Angela J. Waanders,Harry J. Han,Saumya Gupta,Lynley V. Marshall,Stergios Zacharoulis,Sucheta Vaidya,Henry Mandeville,Leslie R. Bridges,Andrew J. Martin,Safa Al-Sarraj,Christopher Chandler,Ho Keung Ng,Xingang Li,Kun Mu,Saoussen Trabelsi,Dorra H'mida-Ben Brahim,Alexei N. Kisljakov,Dmitry M. Konovalov,Andrew S. Moore,Angel M. Carcaboso,Mariona Suñol,Carmen Torres,Ofelia Cruz,Jaume Mora,Ludmila I. Shats,João Norberto Stávale,Lucas Tadeu Bidinotto,Rui Manuel Reis,Natacha Entz-Werle,Michael A. Farrell,Jane Cryan,Darach Crimmins,John Caird,Jane Pears,Michelle Monje,Marie-Anne Debily,David Castel,Jacques Grill,Cynthia Hawkins,Hamid Nikbakht,Nada Jabado,Suzanne J. Baker,Stefan M. Pfister,Stefan M. Pfister,David T.W. Jones,Maryam Fouladi,André O. von Bueren,André O. von Bueren,Michael Baudis,Adam C. Resnick,Chris Jones +66 more
TL;DR: Genomic aberrations increase with age, highlighting the infant population as biologically and clinically distinct, and co-segregating mutations in histone-mutant subgroups including loss of FBXW7 in H 3.3G34R/V, TOP3A rearrangements in H3.3K27M, and BCOR mutations in H2.1K 27M are identified.
Journal ArticleDOI
New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs
Dominik Sturm,Dominik Sturm,Brent A. Orr,Umut H. Toprak,Volker Hovestadt,David T.W. Jones,David Capper,David Capper,Martin Sill,Ivo Buchhalter,Paul A. Northcott,Irina Leis,Marina Ryzhova,Christian Koelsche,Christian Koelsche,Elke Pfaff,Elke Pfaff,Sariah Allen,Gnanaprakash Balasubramanian,Barbara C. Worst,Barbara C. Worst,Kristian W. Pajtler,Sebastian Brabetz,Pascal Johann,Pascal Johann,Felix Sahm,Felix Sahm,Jüri Reimand,Jüri Reimand,Alan Mackay,Diana Carvalho,Marc Remke,Joanna J. Phillips,Arie Perry,Cynthia Cowdrey,Rachid Drissi,Maryam Fouladi,Felice Giangaspero,Maria Łastowska,Wiesława Grajkowska,Wolfram Scheurlen,Torsten Pietsch,Christian Hagel,Johannes Gojo,Daniela Lötsch,Walter Berger,Irene Slavc,Christine Haberler,Anne Jouvet,Stefan Holm,Silvia Hofer,Marco Prinz,Catherine Keohane,Iris Fried,Christian Mawrin,David Scheie,Bret C. Mobley,Matthew Schniederjan,Mariarita Santi,Anna Maria Buccoliero,Sonika Dahiya,Christof M. Kramm,André O. von Bueren,Katja von Hoff,Stefan Rutkowski,Christel Herold-Mende,Michael C. Frühwald,Till Milde,Till Milde,Martin Hasselblatt,Pieter Wesseling,Pieter Wesseling,Jochen Rößler,Ulrich Schüller,Martin Ebinger,Jens Schittenhelm,Stephan Frank,Rainer Grobholz,Istvan Vajtai,Volkmar Hans,Reinhard Schneppenheim,Karel Zitterbart,V. Peter Collins,Eleonora Aronica,Pascale Varlet,Stéphanie Puget,Christelle Dufour,Jacques Grill,Dominique Figarella-Branger,Marietta Wolter,Martin U. Schuhmann,Tarek Shalaby,Michael A. Grotzer,Timothy E. Van Meter,Camelia M. Monoranu,Jörg Felsberg,Guido Reifenberger,Matija Snuderl,Lynn Ann Forrester,Jan Koster,Rogier Versteeg,Richard Volckmann,Peter van Sluis,Stephan Wolf,Tom Mikkelsen,Amar Gajjar,Kenneth Aldape,Andrew S. Moore,Michael D. Taylor,Chris Jones,Nada Jabado,Matthias A. Karajannis,Roland Eils,Matthias Schlesner,Peter Lichter,Andreas von Deimling,Andreas von Deimling,Stefan M. Pfister,Stefan M. Pfister,David W. Ellison,Andrey Korshunov,Andrey Korshunov,Marcel Kool +122 more
TL;DR: It is demonstrated that a significant proportion of institutionally diagnosed CNS-PNETs display molecular profiles indistinguishable from those of various other well-defined CNS tumor entities, facilitating diagnosis and appropriate therapy for patients with these tumors.
Journal ArticleDOI
Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma
Kathryn R. Taylor,Alan Mackay,Nathalene Truffaux,Yaron S. Butterfield,Olena Morozova,Olena Morozova,Cathy Philippe,David Castel,Catherine S. Grasso,Maria Vinci,Diana Carvalho,Angel M. Carcaboso,Carmen de Torres,Ofelia Cruz,Jaume Mora,Natacha Entz-Werle,Wendy J. Ingram,Michelle Monje,Darren Hargrave,Alex N. Bullock,Stéphanie Puget,Stephen Yip,Chris Jones,Jacques Grill +23 more
TL;DR: The identification of recurrent activating mutations in the ACVR1 gene, which encodes a type I activin receptor serine/threonine kinase, in 21% of DIPG samples are reported, which represent new targets for therapeutic intervention in this otherwise incurable disease.
Journal ArticleDOI
Histone H3.3 Mutations Drive Pediatric Glioblastoma through Upregulation of MYCN
Lynn Bjerke,Alan Mackay,Meera Nandhabalan,Anna Burford,Alexa Jury,Sergey V. Popov,Dorine A. Bax,Diana Carvalho,Diana Carvalho,Kathryn R. Taylor,Maria Vinci,Ilirjana Bajrami,Imelda M. McGonnell,Christopher J. Lord,Rui Manuel Reis,Darren Hargrave,Alan Ashworth,Paul Workman,Chris Jones +18 more
TL;DR: The mechanistic explanation for how the first histone gene mutation inhuman disease biology acts to deliver MYCN, a potent tumorigenic initiator, into a stem-cell compartment of the developing forebrain, selectively giving rise to incurable cerebral hemispheric GBM is provided.
Journal ArticleDOI
Novel Oncogenic PDGFRA Mutations in Pediatric High-Grade Gliomas
Barbara S. Paugh,Xiaoyan Zhu,Chunxu Qu,Raelene Endersby,Alexander K. Diaz,Junyuan Zhang,Dorine A. Bax,Diana Carvalho,Rui Manuel Reis,Arzu Onar-Thomas,Alberto Broniscer,Cynthia Wetmore,Jinghui Zhang,Chris Jones,David W. Ellison,Suzanne J. Baker +15 more
TL;DR: A distinct spectrum of mutations confers constitutive receptor activation and oncogenic activity to PDGFRα in childhood HGG.