T
Thorsten Klampfl
Researcher at Austrian Academy of Sciences
Publications - 26
Citations - 3227
Thorsten Klampfl is an academic researcher from Austrian Academy of Sciences. The author has contributed to research in topics: Myeloid leukemia & Germline mutation. The author has an hindex of 12, co-authored 21 publications receiving 2899 citations. Previous affiliations of Thorsten Klampfl include Medical University of Vienna.
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Journal ArticleDOI
Somatic Mutations of Calreticulin in Myeloproliferative Neoplasms
Thorsten Klampfl,Heinz Gisslinger,Ashot S. Harutyunyan,Harini Nivarthi,Elisa Rumi,Jelena D. Milosevic,Nicole C.C. Them,Tiina Berg,Bettina Gisslinger,Daniela Pietra,Doris Chen,Gregory I. Vladimer,Klaudia Bagienski,Chiara Milanesi,Ilaria Carola Casetti,Emanuela Sant'Antonio,Virginia Valeria Ferretti,Chiara Elena,Fiorella Schischlik,Ciara Cleary,Melanie Six,Martin Schalling,Andreas Schönegger,Christoph Bock,Luca Malcovati,Cristiana Pascutto,Giulio Superti-Furga,Mario Cazzola,Robert Kralovics +28 more
TL;DR: Most patients with essential thrombocythemia or primary myelofibrosis that was not associated with a JAK2 or MPL alteration carried a somatic mutation in CALR, and patients with mutated CALR had a lower risk ofThrombosis and longer overall survival than patients with mutations in J AK2.
Journal ArticleDOI
JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes
Elisa Rumi,Daniela Pietra,Virginia Valeria Ferretti,Thorsten Klampfl,Ashot S. Harutyunyan,Jelena D. Milosevic,Nicole C.C. Them,Tiina Berg,Chiara Elena,Ilaria Carola Casetti,Chiara Milanesi,Emanuela Sant'Antonio,Marta Bellini,Elena Fugazza,Maria C. Renna,Emanuela Boveri,Cesare Astori,Cristiana Pascutto,Robert Kralovics,Robert Kralovics,Mario Cazzola +20 more
TL;DR: Observations are consistent with the notion that JAK2-mutated essential thrombocythemia and polycythemia vera represent different phenotypes of a single myeloproliferative neoplasm, whereas CALR-mutation essential thROMbocyhimia is a distinct disease entity.
Journal ArticleDOI
p53 lesions in leukemic transformation.
TL;DR: It is shown that myeloproliferative neoplasms have an inherent tendency toward leukemic transformation, and the genetic mechanisms of transformation remain largely unknown.
Journal ArticleDOI
Genome integrity of myeloproliferative neoplasms in chronic phase and during disease progression
Thorsten Klampfl,Ashot S. Harutyunyan,Tiina Berg,Bettina Gisslinger,Martin Schalling,Klaudia Bagienski,Damla Olcaydu,Francesco Passamonti,Elisa Rumi,Daniela Pietra,Roland Jäger,Lisa Pieri,Paola Guglielmelli,Ilaria Iacobucci,Giovanni Martinelli,Mario Cazzola,Alessandro M. Vannucchi,Heinz Gisslinger,Robert Kralovics,Robert Kralovics +19 more
TL;DR: Investigating chromosomal aberrations in Philadelphia chromosome-negative myeloproliferative neoplasms using high-resolution single-nucleotide polymorphism microarrays provides insight into the genetic complexity of MPNs and implicate new genes involved in disease progression.
Journal ArticleDOI
The solute carrier SLC35F2 enables YM155-mediated DNA damage toxicity
Georg E. Winter,Branka Radic,Cristina Mayor-Ruiz,Vincent A. Blomen,Claudia Trefzer,Richard Kumaran Kandasamy,Kilian Huber,Manuela Gridling,Doris Chen,Thorsten Klampfl,Robert Kralovics,Stefan Kubicek,Oscar Fernandez-Capetillo,Thijn R. Brummelkamp,Thijn R. Brummelkamp,Giulio Superti-Furga +15 more
TL;DR: A haploid genetic screen in human cells is used to discover an absolute dependency of the clinically evaluated anticancer compound YM155 on Solute carrier family member 35 F2 (SLC35F2), an uncharacterized member of the solute carrier protein family that is highly expressed in a variety of human cancers.