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Angel M. Carcaboso
Researcher at Hospital Sant Joan de Déu Barcelona
Publications - 127
Citations - 5552
Angel M. Carcaboso is an academic researcher from Hospital Sant Joan de Déu Barcelona. The author has contributed to research in topics: Glioma & Medicine. The author has an hindex of 30, co-authored 100 publications receiving 3877 citations. Previous affiliations of Angel M. Carcaboso include St. Jude Children's Research Hospital & University of Buenos Aires.
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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
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
Developmental and oncogenic programs in H3K27M gliomas dissected by single-cell RNA-seq
Mariella G. Filbin,Itay Tirosh,Itay Tirosh,Volker Hovestadt,Volker Hovestadt,McKenzie Shaw,McKenzie Shaw,Leah E. Escalante,Leah E. Escalante,Nathan Mathewson,Cyril Neftel,Nelli Frank,Kristine Pelton,Christine M. Hebert,Christine M. Hebert,Christine Haberler,Keren Yizhak,Johannes Gojo,Kristof Egervari,Christopher Mount,Peter van Galen,Peter van Galen,Dennis M. Bonal,Quang-Dé Nguyen,Alexander M. Beck,Claire Sinai,Claire Sinai,Thomas Czech,Christian Dorfer,Liliana Goumnerova,Cinzia Lavarino,Angel M. Carcaboso,Jaume Mora,Ravindra Mylvaganam,Christina C. Luo,Andreas Peyrl,Mara Popović,Amedeo A. Azizi,Tracy T. Batchelor,Matthew P. Frosch,Maria Martinez-Lage,Mark W. Kieran,Pratiti Bandopadhayay,Pratiti Bandopadhayay,Rameen Beroukhim,Rameen Beroukhim,Gerhard Fritsch,Gad Getz,Gad Getz,Orit Rozenblatt-Rosen,Kai W. Wucherpfennig,David N. Louis,Michelle Monje,Irene Slavc,Keith L. Ligon,Keith L. Ligon,Keith L. Ligon,Todd R. Golub,Todd R. Golub,Aviv Regev,Aviv Regev,Bradley E. Bernstein,Bradley E. Bernstein,Mario L. Suvà,Mario L. Suvà +64 more
TL;DR: This study characterizes oncogenic and developmental programs in H3K27M-glioma at single-cell resolution and across genetic subclones, suggesting potential therapeutic targets in this disease.
Journal ArticleDOI
EZH2 is a potential therapeutic target for H3K27M-mutant pediatric gliomas
Faizaan Mohammad,Simon Weissmann,Benjamin Leblanc,Deo Prakash Pandey,Jonas W. Højfeldt,Itys Comet,Chunqin Zheng,Jens Vilstrup Johansen,Nicolas Rapin,Bo T. Porse,Andrey Tvardovskiy,Andrey Tvardovskiy,Ole N. Jensen,Ole N. Jensen,Nagore G. Olaciregui,Cinzia Lavarino,Mariona Suñol,Carmen de Torres,Jaume Mora,Angel M. Carcaboso,Kristian Helin +20 more
TL;DR: Results show that residual PRC2 activity is required for the proliferation of H3K27M-expressing DIPGs, and that inhibition of EZH2 is a potential therapeutic strategy for the treatment of these tumors.
Journal ArticleDOI
Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries
Valentina Boeva,Valentina Boeva,Caroline Louis-Brennetot,Agathe Peltier,Simon Durand,Cécile Pierre-Eugène,Virginie Raynal,Virginie Raynal,Heather C. Etchevers,Sophie Thomas,Alban Lermine,Estelle Daudigeos-Dubus,Birgit Geoerger,Martin F. Orth,Thomas G. P. Grunewald,Elise Diaz,Elise Diaz,Bertrand Ducos,Bertrand Ducos,Bertrand Ducos,Didier Surdez,Angel M. Carcaboso,Irina V. Medvedeva,Thomas Deller,Valérie Combaret,Eve Lapouble,Gaëlle Pierron,Sandrine Grossetête-Lalami,Sylvain Baulande,Gudrun Schleiermacher,Emmanuel Barillot,Hermann Rohrer,Olivier Delattre,Olivier Delattre,Isabelle Janoueix-Lerosey,Isabelle Janoueix-Lerosey +35 more
TL;DR: This work discovered three types of identity in neuroblastoma cell lines: a sympathetic noradrenergic identity, defined by a CRC module including the PHOX2B, HAND2 and GATA3 transcription factors (TFs); an NCC-like identity, driven by aRC module containing AP-1 TFs; and a mixed type, further deconvoluted at the single-cell level.