| 1. |
- Weinstein, John N., et al.
(author)
-
The cancer genome atlas pan-cancer analysis project
- 2013
-
In: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 45:10, s. 1113-1120
-
Research review (peer-reviewed)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. |
- Hudson, Thomas J., et al.
(author)
-
International network of cancer genome projects
- 2010
-
In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7291, s. 993-998
-
Journal article (peer-reviewed)abstract
- The International Cancer Genome Consortium (ICGC) was launched to coordinate large-scale cancer genome studies in tumours from 50 different cancer types and/or subtypes that are of clinical and societal importance across the globe. Systematic studies of more than 25,000 cancer genomes at the genomic, epigenomic and transcriptomic levels will reveal the repertoire of oncogenic mutations, uncover traces of the mutagenic influences, define clinically relevant subtypes for prognosis and therapeutic management, and enable the development of new cancer therapies.
|
|
| 3. |
- Abel, I, et al.
(author)
-
Overview of the JET results with the ITER-like wall
- 2013
-
In: Nuclear Fusion. - : IOP Publishing. - 1741-4326 .- 0029-5515. ; 53:10, s. 104002-
-
Journal article (peer-reviewed)abstract
- Following the completion in May 2011 of the shutdown for the installation of the beryllium wall and the tungsten divertor, the first set of JET campaigns have addressed the investigation of the retention properties and the development of operational scenarios with the new plasma-facing materials. The large reduction in the carbon content (more than a factor ten) led to a much lower Z(eff) (1.2-1.4) during L- and H-mode plasmas, and radiation during the burn-through phase of the plasma initiation with the consequence that breakdown failures are almost absent. Gas balance experiments have shown that the fuel retention rate with the new wall is substantially reduced with respect to the C wall. The re-establishment of the baseline H-mode and hybrid scenarios compatible with the new wall has required an optimization of the control of metallic impurity sources and heat loads. Stable type-I ELMy H-mode regimes with H-98,H-y2 close to 1 and beta(N) similar to 1.6 have been achieved using gas injection. ELM frequency is a key factor for the control of the metallic impurity accumulation. Pedestal temperatures tend to be lower with the new wall, leading to reduced confinement, but nitrogen seeding restores high pedestal temperatures and confinement. Compared with the carbon wall, major disruptions with the new wall show a lower radiated power and a slower current quench. The higher heat loads on Be wall plasma-facing components due to lower radiation made the routine use of massive gas injection for disruption mitigation essential.
|
|
| 4. |
- Baskin, Berivan, et al.
(author)
-
TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations
- 2013
-
In: Human Genetics. - : Springer Science and Business Media LLC. - 0340-6717 .- 1432-1203. ; 132:11, s. 1245-1252
-
Journal article (peer-reviewed)abstract
- Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a myocardial disease characterized by fibro-fatty replacement of right ventricular free wall myocardium and life-threatening ventricular arrhythmias. A missense mutation, c.1073C>T (p.S358L) in the transmembrane protein 43 (TMEM43) gene, has been genetically identified to cause ARVC type 5 in a founder population from Newfoundland. It is unclear whether this mutation occurs in other populations outside of this founder population or if other variants of TMEM43 are associated with ARVC disease. We sought to identify non-Newfoundland individuals with TMEM43 variants among patient samples sent for genetic assessment for possible ARVC. Of 195 unrelated individuals with suspected ARVC, mutation of desmosomal proteins was seen in 28 and the p.S358L TMEM43 mutation in six. We identified a de novo p.S358L mutation in a non-Newfoundland patient and five separate rare TMEM43 (four novel) sequence variants in non-Newfoundland patients, each occurring in an evolutionarily conserved amino acid. TMEM43 mutations occur outside of the founder population of the island of Newfoundland where it was originally described. TMEM43 sequencing should be incorporated into clinical genetic testing for ARVC patients.
|
|
| 5. |
- Enciso-Mora, Victor, et al.
(author)
-
A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3)
- 2010
-
In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:12, s. 1126-1130
-
Journal article (peer-reviewed)abstract
- To identify susceptibility loci for classical Hodgkin's lymphoma (cHL), we conducted a genome-wide association study of 589 individuals with cHL (cases) and 5,199 controls with validation in four independent samples totaling 2,057 cases and 3,416 controls. We identified three new susceptibility loci at 2p16.1 (rs1432295, REL, odds ratio (OR) = 1.22, combined P = 1.91 × 10−8), 8q24.21 (rs2019960, PVT1, OR = 1.33, combined P = 1.26 × 10−13) and 10p14 (rs501764, GATA3, OR = 1.25, combined P = 7.05 × 10−8). Furthermore, we confirmed the role of the major histocompatibility complex in disease etiology by revealing a strong human leukocyte antigen (HLA) association (rs6903608, OR = 1.70, combined P = 2.84 × 10−50). These data provide new insight into the pathogenesis of cHL.
|
|
| 6. |
- Escott-Price, Valentina, et al.
(author)
-
Gene-Wide Analysis Detects Two New Susceptibility Genes for Alzheimer's Disease
- 2014
-
In: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 9:6, s. e94661-
-
Journal article (peer-reviewed)abstract
- Background: Alzheimer's disease is a common debilitating dementia with known heritability, for which 20 late onset susceptibility loci have been identified, but more remain to be discovered. This study sought to identify new susceptibility genes, using an alternative gene-wide analytical approach which tests for patterns of association within genes, in the powerful genome-wide association dataset of the International Genomics of Alzheimer's Project Consortium, comprising over 7 m genotypes from 25,580 Alzheimer's cases and 48,466 controls. Principal Findings: In addition to earlier reported genes, we detected genome-wide significant loci on chromosomes 8 (TP53INP1, p = 1.4x10(-6)) and 14 (IGHV1-67 p = 7.9x10(-8)) which indexed novel susceptibility loci. Significance: The additional genes identified in this study, have an array of functions previously implicated in Alzheimer's disease, including aspects of energy metabolism, protein degradation and the immune system and add further weight to these pathways as potential therapeutic targets in Alzheimer's disease.
|
|
| 7. |
|
|
| 8. |
- Hamilton-bruce, Robert J., et al.
(author)
-
A possible succineid land snail from the Lower Cretaceous non-marine deposits of the Griman Creek Formation at Lightning Ridge, New South Wales
- 2010
-
In: Alcheringa. - : Informa UK Limited. - 0311-5518 .- 1752-0754. ; 34:3, s. 325-331
-
Journal article (peer-reviewed)abstract
- A diverse non-marine molluscan fauna has been recorded from the Lower Cretaceous (middle-upper Albian), low-energy, fluvial sediments of the Griman Creek Formation at Lightning Ridge in northern New South Wales. We describe a novel addition to this assemblagea probable pulmonate gastropod that manifests features (including shell with an inflated body whorl, expansive aperture, and reduced spire/whorl count) consistent with Succineidae, an extant cosmopolitan family of terrestrial snails. The fossils are assigned to a new genus and species (Suratia marilynae), distinguishable from existing taxa by a combination of traits: shell with sculpturing limited to fine growth lines only, lunate body whorl with a rounded periphery, markedly flattened spire (comprising up to two whorls), which is almost flush with the apical surface and delineated by a deeply impressed sutural 'gutter,' and presence of both a broad columellar plait and distinct columellar fold. The new taxon apparently constitutes the oldest pulmonate remains recorded from Australasia, and extends the known stratigraphical range of succineids back to the Lower Cretaceous in the Southern Hemisphere.
|
|
| 9. |
- Hamilton, Carl J.
(author)
-
Implementing Road Pricing : Standards, Institutions, Costs, and Public Acceptance
- 2012
-
Doctoral thesis (other academic/artistic)abstract
- Much has been researched and written about road pricing, and especially how it affects traffic flow, congestion, the environment, and social welfare in general. This doctoral thesis analyses the implementation of road user charges rather than its effects. The dissertation consists of five separate papers, each addressing a subset of the topic. The first paper sheds light on the costs to introduce congestion taxes in Stockholm, and describes how public opinion and political risk lead to a system design that in all likelihood was more expensive than necessary. In the second paper the European regulation on interoperability between road charging system is evaluated from a benefit/cost perspective, which is found to be overly ambitious. Paper three builds upon the second, and suggests a general model for how costs and benefits interact in the case of road charging interoperability. Inpaper four a potential solution is presented for how the practical problems related to enforcement of road charging in an international context or in countries with weak institutions. The fifth and final paper analyses the public opinion of road charges, and especially urban congestion charges, using a survey conducted simultaneously in three European cities.
|
|
| 10. |
- Hinkel, Jochen, et al.
(author)
-
A global analysis of erosion of sandy beaches and sea-level rise: An application of DIVA
- 2013
-
In: Global and Planetary Change. - : Elsevier. - 0921-8181 .- 1872-6364. ; 111, s. 150-158
-
Journal article (peer-reviewed)abstract
- This paper presents a first assessment of the global effects of climate-induced sea-level rise on the erosion of sandy beaches, and its consequent impacts in the form of land loss and forced migration of people. We consider direct erosion on open sandy coasts and indirect erosion near selected tidal inlets and estuaries, using six global mean sea-level scenarios (in the range of 0.2-0.8 m) and six SRES socio-economic development scenarios for the 21st century. Impacts are assessed both without and with adaptation in the form of shore and beach nourishment, based on cost-benefit analysis that includes the benefits of maintaining sandy beaches for tourism. Without nourishment, global land loss would amount to about 6000-17,000 km(2) during the 21st century, leading to 1.6-5.3 million people being forced to migrate and migration costs of US$ 300-1000 billion (not discounted). Optimal beach and shore nourishment would cost about US$ 65-220 billion (not discounted) during the 21st century and would reduce land loss by 8-14%, forced migration by 56-68% and the cost of forced migration by 77-84% (not discounted). The global share of erodible coast that is nourished increases from about 4% in 2000 to 18-33% in 2100, with beach nourishment being 3-4 times more frequent than shore nourishment, reflecting the importance of tourism benefits. In absolute terms, with or without nourishment, large counties with long shorelines appear to have the largest costs, but in relative terms, small island states appear most impacted by erosion. Considerable uncertainty remains due to the limited availability of basic coastal geomorphological data and models on a global scale. Future work should also further explore the effects of beach tourism, including considering sub-national distributions of beach tourists.
|
|
