M
Maureen J. O'Sullivan
Researcher at Boston Children's Hospital
Publications - 107
Citations - 5560
Maureen J. O'Sullivan is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Gene & Germline mutation. The author has an hindex of 34, co-authored 102 publications receiving 5050 citations. Previous affiliations of Maureen J. O'Sullivan include University College Cork & University of British Columbia.
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Journal ArticleDOI
Lin28 promotes transformation and is associated with advanced human malignancies
Srinivas R. Viswanathan,John T. Powers,William S. Einhorn,Yujin Hoshida,Tony Ng,Sara Toffanin,Maureen J. O'Sullivan,Jun Lu,Letha A. Phillips,Victoria L Lockhart,Samar P. Shah,Pradeep S. Tanwar,Craig H. Mermel,Rameen Beroukhim,Mohammad Azam,José A. Teixeira,Matthew Meyerson,Timothy P. Hughes,Josep M. Llovet,Jerald P. Radich,Charles G. Mullighan,Todd R. Golub,Poul H. Sorensen,George Q. Daley +23 more
TL;DR: This work provides a mechanism for the coordinate repression of let-7 miRNAs observed in a subset of human cancers, and associates activation of LIN28 and LIN28B with poor clinical prognosis.
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Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations
Katherine A. Janeway,Su Young Kim,Maya Lodish,Vânia Nosé,Pierre Rustin,José Gaal,Patricia L. M. Dahia,Bernadette Liegl,Evan R. Ball,Margarita Raygada,Angela H. Lai,Lorna Kelly,Jason L. Hornick,wild-type Gist Clinic,Maureen J. O'Sullivan,Ronald R. de Krijger,Winand N.M. Dinjens,George D. Demetri,Cristina R. Antonescu,Jonathan A. Fletcher,Lee J. Helman,Constantine A. Stratakis +21 more
TL;DR: WT GISTs, particularly those in younger patients, have defects in SDH mitochondrial complex II, and in a subset of these patients, GIST seems to arise from germline-inactivating SDH mutations.
Journal ArticleDOI
Filaggrin mutations, atopic eczema, hay fever, and asthma in children
Stephan Weidinger,Maureen J. O'Sullivan,Thomas Illig,Hansjoerg Baurecht,Martin Depner,Elke Rodriguez,Andreas Ruether,Norman Klopp,Christian Vogelberg,Stephan K. Weiland,W.H. Irwin McLean,Erika von Mutius,Alan D. Irvine,Alan D. Irvine,Michael Kabesch +14 more
TL;DR: It is suggested that FLG mutations are key organ specific factors predominantly affecting the development of Eczema and confer significant risks of allergic sensitization and allergic rhinitis as well as asthma in the context of eczema.
Journal ArticleDOI
Succinate dehydrogenase mutation underlies global epigenomic divergence in gastrointestinal stromal tumor
J. Keith Killian,Su Young Kim,Markku Miettinen,Carly J Smith,Maria J. Merino,Maria Tsokos,Martha Quezado,William I. Smith,Mona S. Jahromi,Paraskevi Xekouki,Eva Szarek,Robert L. Walker,Jerzy Lasota,Mark Raffeld,Brandy Klotzle,Zengfeng Wang,Laura Jones,Yuelin Zhu,Yonghong Wang,Joshua J. Waterfall,Maureen J. O'Sullivan,Marina Bibikova,Karel Pacak,Constantine A. Stratakis,Katherine A. Janeway,Joshua D. Schiffman,Jian-Bing Fan,Lee J. Helman,Paul S. Meltzer +28 more
TL;DR: A striking divergence is uncovered between the DNA methylation profiles of SDH-deficient GIST versus KIT tyrosine kinase pathway-mutated GIST, which generally implicate the mitochondrial Krebs cycle in nuclear epigenomic maintenance.
Journal ArticleDOI
Mutations in the SIX1/2 Pathway and the DROSHA/DGCR8 miRNA Microprocessor Complex Underlie High-Risk Blastemal Type Wilms Tumors
Jenny Wegert,Naveed Ishaque,Romina Vardapour,Christina Geörg,Zuguang Gu,Matthias Bieg,Barbara Ziegler,Sabrina Bausenwein,N. Nourkami,Nicole Ludwig,Andreas Keller,Clemens Grimm,Susanne Kneitz,Richard D. Williams,Tasnim Chagtai,Kathy Pritchard-Jones,Peter van Sluis,Richard Volckmann,Jan Koster,Rogier Versteeg,T Acha,Maureen J. O'Sullivan,Peter K. Bode,Felix Niggli,Godelieve A.M. Tytgat,Harm van Tinteren,Marry M. van den Heuvel-Eibrink,Eckart Meese,Christian Vokuhl,Ivo Leuschner,Norbert Graf,Roland Eils,Roland Eils,Stefan M. Pfister,Marcel Kool,Manfred Gessler +35 more
TL;DR: Recurrent mutations included a hotspot mutation (Q177R) in the homeo-domain of SIX1 and SIX2 in tumors with high proliferative potential, which was functionally validated in cell lines expressing mutant DROSHA.