| 1. |
- Weinstein, John N., et al.
(författare)
-
The cancer genome atlas pan-cancer analysis project
- 2013
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:10, s. 1113-1120
-
Forskningsöversikt (refereegranskat)abstract
- The Cancer Genome Atlas (TCGA) Research Network has profiled and analyzed large numbers of human tumors to discover molecular aberrations at the DNA, RNA, protein and epigenetic levels. The resulting rich data provide a major opportunity to develop an integrated picture of commonalities, differences and emergent themes across tumor lineages. The Pan-Cancer initiative compares the first 12 tumor types profiled by TCGA. Analysis of the molecular aberrations and their functional roles across tumor types will teach us how to extend therapies effective in one cancer type to others with a similar genomic profile. © 2013 Nature America, Inc. All rights reserved.
|
|
| 2. |
|
|
| 3. |
|
|
| 4. |
- Kirsebom, O. S., et al.
(författare)
-
Precise and accurate determination of the B-8 decay spectrum
- 2011
-
Ingår i: Physical Review C - Nuclear Physics. - 2469-9985 .- 2469-9993. ; 83:6
-
Tidskriftsartikel (refereegranskat)abstract
- Accurate measurements of the B-8 neutrino spectrum are important for the interpretation of solar neutrino data. Experimentally, the B-8 neutrino spectrum can be obtained from the measurement of the beta-delayed alpha spectrum. We report on an alpha-alpha coincidence measurement performed at the IGISOL facility in Jyvaskyla, Finland. Our measurement allows extensive cross-checks to be performed and gives a more intense neutrino spectrum at high energies compared to the present standard. The deviation reaches 4% at the end point of the spectrum. Below 11 MeV, the deviation is less than 1%.
|
|
| 5. |
- Buchhave, Lars A., et al.
(författare)
-
An abundance of small exoplanets around stars with a wide range of metallicities
- 2012
-
Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 486:7403, s. 375-377
-
Tidskriftsartikel (refereegranskat)abstract
- The abundance of heavy elements (metallicity) in the photospheres of stars similar to the Sun provides a 'fossil' record of the chemical composition of the initial protoplanetary disk. Metal-rich stars are much more likely to harbour gas giant planets(1-4), supporting the model that planets form by accumulation of dust and ice particles(5). Recent ground-based surveys suggest that this correlation is weakened for Neptunian-sized planets(4,6-9). However, how the relationship between size and metallicity extends into the regime of terrestrial-sized exoplanets is unknown. Here we report spectroscopic metallicities of the host stars of 226 small exoplanet candidates discovered by NASA's Kepler mission(10), including objects that are comparable in size to the terrestrial planets in the Solar System. We find that planets with radii less than four Earth radii form around host stars with a wide range of metallicities (but on average a metallicity close to that of the Sun), whereas large planets preferentially form around stars with higher metallicities. This observation suggests that terrestrial planets may be widespread in the disk of the Galaxy, with no special requirement of enhanced metallicity for their formation.
|
|
| 6. |
- Kirsebom, O. S., et al.
(författare)
-
The 8B neutrino spectrum
- 2010
-
Ingår i: 11th Symposium on Nuclei in the Cosmos, NIC 2010; Heidelberg; Germany; 19 July 2010 through 23 July 2010. - 1824-8039.
-
Konferensbidrag (refereegranskat)abstract
- Knowledge of the energy spectrum of the neutrinos emitted in the β decay of8B in the Sun is needed to interpret the neutrino spectrum measured on Earth. Experimentally, the 8B neutrino spectrum may be αextracted from the measurement of the β -delayed a spectrum. In this contribution, the results of a recent α-α coincidence measurement are presented and compared to previous measurements. The implications for the neutrino spectrum are clarified.
|
|
| 7. |
- O Reese, Matthew, et al.
(författare)
-
Consensus stability testing protocols for organic photovoltaic materials and devices
- 2011
-
Ingår i: SOLAR ENERGY MATERIALS AND SOLAR CELLS. - : Elsevier Science B.V., Amsterdam.. - 0927-0248. ; 95:5, s. 1253-1267
-
Tidskriftsartikel (refereegranskat)abstract
- Procedures for testing organic solar cell devices and modules with respect to stability and operational lifetime are described. The descriptions represent a consensus of the discussion and conclusions reached during the first 3 years of the international summit on OPV stability (ISOS). The procedures include directions for shelf life testing, outdoor testing, laboratory weathering testing and thermal cycling testing, as well as guidelines for reporting data. These procedures are not meant to be qualification tests, but rather generally agreed test conditions and practices to allow ready comparison between laboratories and to help improving the reliability of reported values. Failure mechanisms and detailed degradation mechanisms are not covered in this report.
|
|
| 8. |
- Barker, Philip A., et al.
(författare)
-
Carbon cycling within an East African lake revealed by the carbon isotope composition of diatom silica: a 25-ka record from Lake Challa, Mt. Kilimanjaro
- 2013
-
Ingår i: Quaternary Science Reviews. - : Elsevier BV. - 0277-3791. ; 66, s. 55-63
-
Tidskriftsartikel (refereegranskat)abstract
- The carbon cycle of a lake is a balance between supply from the atmosphere and catchment, and the net demand exerted by primary producers, minus losses back to the atmosphere and to sediment storage. Evaluating the sum of these processes and reconstructing them from sediment records of lake history requires a range of methods and a multi-proxy approach. One promising technique is to explore the carbon-isotope composition (delta C-13(diatom)) of organic matter incorporated within the silica frustules of diatom algae. Here we present a 25,000-year record of delta C-13(diatom) from the sediments of crater Lake Challa on the eastern flank of Mt. Kilimanjaro, and along with other proxy data we make inferences about the three major phases in the history of the lake's carbon cycle. From 25 ka to 15.8 ka years BP, delta C-13(diatom) is positively correlated with the delta C-13 of bulk sediment organic matter (delta C-13(bulk)), indicating that high diatom productivity, as recorded by high % biogenic silica at this time, was preferentially removing C-12 and enriching the delta C-13 of lake-water dissolved inorganic carbon. From 15.8 to 5.5 ka the correlation between delta C-13(diatom) and delta C-13(bulk) breaks down, suggesting carbon supply to the lake satisfied or exceeded the demand from productivity. From 5.5 ka BP the positive correlation resumes, indicating an increase in the internal demand for carbon relative to external supply. Diatom frustule-bound carbon isotopes offer an original tool in examining long-term fluctuations in a lake's carbon budget and how the balance between supply and demand has changed through time. (C) 2012 Elsevier Ltd. All rights reserved.
|
|
| 9. |
- Miller, David T., et al.
(författare)
-
Consensus Statement : Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
- 2010
-
Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 86:5, s. 749-764
-
Tidskriftsartikel (refereegranskat)abstract
- Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA). Performing CMA and G-banded karyotyping on every patient substantially increases the total cost of genetic testing. The International Standard Cytogenomic Array (ISCA) Consortium held two international workshops and conducted a literature review of 33 studies, including 21,698 patients tested by CMA. We provide an evidence-based summary of clinical cytogenetic testing comparing CMA to G-banded karyotyping with respect to technical advantages and limitations, diagnostic yield for various types of chromosomal aberrations, and issues that affect test interpretation. CMA offers a much higher diagnostic yield (15%-20%) for genetic testing of individuals with unexplained DD/ID, ASD, or MCA than a G-banded karyotype (similar to 3%, excluding Down syndrome and other recognizable chromosomal syndromes), primarily because of its higher sensitivity for submicroscopic deletions and duplications. Truly balanced rearrangements and low-level mosaicism are generally not detectable by arrays, but these are relatively infrequent causes of abnormal phenotypes in this population (<1%). Available evidence strongly supports the use of CMA in place of G-banded karyotyping as the first-tier cytogenetic diagnostic test for patients with DD/ID, ASD, or MCA. G-banded karyotype analysis should be reserved for patients with obvious chromosomal syndromes (e.g., Down syndrome), a family history of chromosomal rearrangement, or a history of multiple miscarriages.
|
|
| 10. |
- Van Hoecke, Annelies, et al.
(författare)
-
EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans
- 2012
-
Ingår i: Nature Medicine. - New York : Nature Publishing Group. - 1078-8956 .- 1546-170X. ; 18:9, s. 1418-
-
Tidskriftsartikel (refereegranskat)abstract
- Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease affecting motor neurons. Disease onset and progression are variable, with survival ranging from months to decades. Factors underlying this variability may represent targets for therapeutic intervention. Here, we have screened a zebrafish model of ALS and identified Epha4, a receptor in the ephrin axonal repellent system, as a modifier of the disease phenotype in fish, rodents and humans. Genetic as well as pharmacological inhibition of Epha4 signaling rescues the mutant SOD1 phenotype in zebrafish and increases survival in mouse and rat models of ALS. Motor neurons that are most vulnerable to degeneration in ALS express higher levels of Epha4, and neuromuscular re-innervation by axotomized motor neurons is inhibited by the presence of Epha4. In humans with ALS, EPHA4 expression inversely correlates with disease onset and survival, and loss-of-function mutations in EPHA4 are associated with long survival. Furthermore, we found that knockdown of Epha4 also rescues the axonopathy induced by expression of mutant TAR DNA-binding protein 43 (TDP-43), another protein causing familial ALS, and the axonopathy induced by knockdown of survival of motor neuron 1, a model for spinomuscular atrophy. This suggests that Epha4 generically modulates the vulnerability of (motor) neurons to axonal degeneration and may represent a new target for therapeutic intervention.
|
|
