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- Holmfeldt, Linda, et al.
(författare)
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The genomic landscape of hypodiploid acute lymphoblastic leukemia
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 45:3, s. 242-252
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Tidskriftsartikel (refereegranskat)abstract
- The genetic basis of hypodiploid acute lymphoblastic leukemia (ALL), a subtype of ALL characterized by aneuploidy and poor outcome, is unknown. Genomic profiling of 124 hypodiploid ALL cases, including whole-genome and exome sequencing of 40 cases, identified two subtypes that differ in the severity of aneuploidy, transcriptional profiles and submicroscopic genetic alterations. Near-haploid ALL with 24-31 chromosomes harbor alterations targeting receptor tyrosine kinase signaling and Ras signaling (71%) and the lymphoid transcription factor gene IKZF3 (encoding AIOLOS; 13%). In contrast, low-hypodiploid ALL with 32-39 chromosomes are characterized by alterations in TP53 (91.2%) that are commonly present in nontumor cells, IKZF2 (encoding HELIOS; 53%) and RB1 (41%). Both near-haploid and low-hypodiploid leukemic cells show activation of Ras-signaling and phosphoinositide 3-kinase (PI3K)-signaling pathways and are sensitive to PI3K inhibitors, indicating that these drugs should be explored as a new therapeutic strategy for this aggressive form of leukemia.
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2. |
- Kerne, Andruid, et al.
(författare)
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Evaluation Methods for Creativity Support Environments
- 2013
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Ingår i: Conference on Human Factors in Computing Systems - Proceedings. - New York, NY, USA : Association for Computing Machinery. - 9781450318990 ; , s. 3295-3298
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Konferensbidrag (refereegranskat)abstract
- Creativity refers to the human processes that underpin sublime forms of expression and fuel innovation. Creativity support environments (CSEs) address diverse areas, such as education, science, business, disaster response, design, art, performance, and everyday life. A CSE may consist of a desktop application, or use specialized hardware, networked topologies, and mobile devices. CSEs may address temporal-spatial aspects of collaborative work. This workshop gathers a community of researchers developing and evaluating CSEs. We will share approaches, engage in dialogue, and develop best practices. The outcome is not a single prescription, but an ontology of methodologies with consideration to how they map to creative activities, and an emerging consensus on the range of expectations for rigorous evaluation to shape the field of CSE research. The workshop will organize an open repository of CSE evaluation methods and test data.
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