| 1. |
- Birney, Ewan, et al.
(författare)
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Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
- 2007
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 447:7146, s. 799-816
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Tidskriftsartikel (refereegranskat)abstract
- We report the generation and analysis of functional data from multiple, diverse experiments performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE Project. These data have been further integrated and augmented by a number of evolutionary and computational analyses. Together, our results advance the collective knowledge about human genome function in several major areas. First, our studies provide convincing evidence that the genome is pervasively transcribed, such that the majority of its bases can be found in primary transcripts, including non-protein-coding transcripts, and those that extensively overlap one another. Second, systematic examination of transcriptional regulation has yielded new understanding about transcription start sites, including their relationship to specific regulatory sequences and features of chromatin accessibility and histone modification. Third, a more sophisticated view of chromatin structure has emerged, including its inter-relationship with DNA replication and transcriptional regulation. Finally, integration of these new sources of information, in particular with respect to mammalian evolution based on inter- and intra-species sequence comparisons, has yielded new mechanistic and evolutionary insights concerning the functional landscape of the human genome. Together, these studies are defining a path for pursuit of a more comprehensive characterization of human genome function.
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| 2. |
- Couch, Fergus J., et al.
(författare)
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AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: A consortium of investigators of modifiers of BRCA1/2 study
- 2007
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Ingår i: Cancer Epidemiology Biomarkers & Prevention. - 1538-7755. ; 16:7, s. 1416-1421
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Tidskriftsartikel (refereegranskat)abstract
- The AURKA oncogene is associated with abnormal chromosome segregation and aneuploidy and predisposition to cancer. Amplification of AURKA has been detected at higher frequency in tumors from BRCA1 and BRCA2 mutation carriers than in sporadic breast tumors, suggesting that overexpression of AURKA and inactivation of BRCA1 and BRCA2 cooperate during tumor development and progression. The F31I polymorphism in AURKA has been associated with breast cancer risk in the homozygous state in prior studies. We evaluated whether the AURKA F31I polymorphism modifies breast cancer risk in BRCA1 and BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2. Consortium of Investigators of Modifiers of BRCA1/2 was established to provide sufficient statistical power through increased numbers of mutation carriers to identify polymorphisms that act as modifiers of cancer risk and can refine breast cancer risk estimates in BRCA1 and BRCA2 mutation carriers. A total of 4,935 BRCA1 and 2,241 BRCA2 mutation carriers and 11 individuals carrying both BRCA1 and BRCA2 mutations was genotyped for F31I. Overall, homozygosity for the 311 allele was not significantly associated with breast cancer risk in BRCA1 and BRCA2 carriers combined [hazard ratio (HR), 0.91; 95% confidence interval (95% CI), 0.77-1.061. Similarly, no significant association was seen in BRCA1 (HR, 0.90; 95% Cl, 0.75-1.08) or BRCA2 carriers (HR, 0.93; 95% CI, 0.67-1.29) or when assessing the modifying effects of either bilateral prophylactic oophorectomy or menopausal status of BRCA1 and BRCA2 carriers. In summary, the F31I polymorphism in AURKA is not associated with a modified risk of breast cancer in BRCA1 and BRCA2 carriers.
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| 3. |
- Grigorenko, L. V., et al.
(författare)
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Complete correlation studies of two-proton decays: Be-6 and Fe-45
- 2009
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Ingår i: Physics Letters, Section B: Nuclear, Elementary Particle and High-Energy Physics. - : Elsevier BV. - 0370-2693. ; 677:1-2, s. 30-35
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Tidskriftsartikel (refereegranskat)abstract
- The complete three-body correlation pictures are experimentally reconstructed for the two-proton decays of the Be-6 and (45)e ground states. We are able to see qualitative similarities and differences between these decays. They demonstrate very good agreement with the predictions of a theoretical three-body cluster model. Validity of the theoretical methods for treatment of the three-body Coulombic decays of this class is thus established by the broad range of lifetimes and nuclear masses spanned by these cases. Implementations for decay dynamics and nuclear structure of 2p emitters are discussed. (C) 2009 Elsevier B.V. All rights reserved.
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| 4. |
- Rentschler, M., et al.
(författare)
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An in vivo Mobile Robot for Surgical Vision and Task Assistance
- 2007
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Ingår i: Journal of Medical Devices. - Fairfield, NJ : ASME Press. - 1932-6181 .- 1932-619X. ; 1:1, s. 23-29
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Tidskriftsartikel (refereegranskat)abstract
- Current laparoscopic surgical robots are expensive, bulky, and fundamentally constrained by the small entry incisions. A potential new approach to minimally invasive surgery is to place the robot completely within the patient. We have developed several such miniature mobile robots and conducted tests during animal surgeries. These robots can provide vision and task assistance to the surgeon without being constrained by the entry port. We used a mobile biopsy and camera robot to sample hepatic tissue from an anesthetized porcine animal model. This successful test demonstrated the capability of performing a single port laparoscopic biopsy procedure. In the future, a family of such robots could be remotely controlled and used to perform surgical procedures without the need for conventional laparoscopic tools. Copyright © 2007 by ASME.
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