| 1. |
- Thompson, B.A., et al.
(författare)
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Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
- 2014
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 46:2, s. 107-115
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Tidskriftsartikel (refereegranskat)abstract
- The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants that were not obviously protein truncating from nomenclature. This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases. © 2014 Nature America, Inc.
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| 2. |
- Appeltans, W., et al.
(författare)
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The Magnitude of Global Marine Species Diversity
- 2012
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Ingår i: Current Biology. - : Elsevier BV. - 0960-9822 .- 1879-0445. ; 22:23, s. 2189-2202
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Tidskriftsartikel (refereegranskat)abstract
- Background: The question of how many marine species exist is important because it provides a metric for how much we do and do not know about life in the oceans. We have compiled the first register of the marine species of the world and used this baseline to estimate how many more species, partitioned among all major eukaryotic groups, may be discovered. Results: There are similar to 226,000 eukaryotic marine species described. More species were described in the past decade (similar to 20,000) than in any previous one. The number of authors describing new species has been increasing at a faster rate than the number of new species described in the past six decades. We report that there are similar to 170,000 synonyms, that 58,000-72,000 species are collected but not yet described, and that 482,000-741,000 more species have yet to be sampled. Molecular methods may add tens of thousands of cryptic species. Thus, there may be 0.7-1.0 million marine species. Past rates of description of new species indicate there may be 0.5 +/- 0.2 million marine species. On average 37% (median 31%) of species in over 100 recent field studies around the world might be new to science. Conclusions: Currently, between one-third and two-thirds of marine species may be undescribed, and previous estimates of there being well over one million marine species appear highly unlikely. More species than ever before are being described annually by an increasing number of authors. If the current trend continues, most species will be discovered this century.
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| 3. |
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| 4. |
- Ferrari, Raffaele, et al.
(författare)
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Frontotemporal dementia and its subtypes: a genome-wide association study.
- 2014
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Ingår i: Lancet Neurology. - 1474-4465. ; 13:7, s. 686-699
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Tidskriftsartikel (refereegranskat)abstract
- Frontotemporal dementia (FTD) is a complex disorder characterised by a broad range of clinical manifestations, differential pathological signatures, and genetic variability. Mutations in three genes-MAPT, GRN, and C9orf72-have been associated with FTD. We sought to identify novel genetic risk loci associated with the disorder.
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| 5. |
- Van Deerlin, Vivian M, et al.
(författare)
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Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:3, s. 234-239
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Tidskriftsartikel (refereegranskat)abstract
- Frontotemporal lobar degeneration (FTLD) is the second most common cause of presenile dementia. The predominant neuropathology is FTLD with TAR DNA-binding protein (TDP-43) inclusions (FTLD-TDP). FTLD-TDP is frequently familial, resulting from mutations in GRN (which encodes progranulin). We assembled an international collaboration to identify susceptibility loci for FTLD-TDP through a genome-wide association study of 515 individuals with FTLD-TDP. We found that FTLD-TDP associates with multiple SNPs mapping to a single linkage disequilibrium block on 7p21 that contains TMEM106B. Three SNPs retained genome-wide significance following Bonferroni correction (top SNP rs1990622, P = 1.08 x 10(-11); odds ratio, minor allele (C) 0.61, 95% CI 0.53-0.71). The association replicated in 89 FTLD-TDP cases (rs1990622; P = 2 x 10(-4)). TMEM106B variants may confer risk of FTLD-TDP by increasing TMEM106B expression. TMEM106B variants also contribute to genetic risk for FTLD-TDP in individuals with mutations in GRN. Our data implicate variants in TMEM106B as a strong risk factor for FTLD-TDP, suggesting an underlying pathogenic mechanism.
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| 8. |
- Malaspina, David M., et al.
(författare)
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Langmuir wave harmonics due to driven nonlinear currents
- 2013
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Ingår i: Journal of Geophysical Research - Space Physics. - 2169-9380 .- 2169-9402. ; 118:11, s. 6880-6888
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Tidskriftsartikel (refereegranskat)abstract
- The conversion of Langmuir waves into electromagnetic radiation near the local plasma frequency (f(pe)) and twice the local plasma frequency (2f(pe)) occurs in diverse heliospheric environments including along the path of type III radio bursts, at interplanetary shocks, and in planetary foreshocks. This radiation has the potential to act as a probe of remote plasma conditions, provided that the conversion mechanism is well understood. One candidate conversion mechanism is the antenna radiation of localized Langmuir waves. Antenna radiation near 2f(pe) requires the presence of nonlinear currents at 2f(pe). In this work, properties of these currents are predicted from theory and compared with observations of Langmuir wave electric fields made using the WAVES instrument on the STEREO spacecraft. It is found that the observed frequency structure, polarization, and wave number ratio are consistent with nonlinear current predictions, once electric fields near 2f(pe)consistent with sheath effects are taken into account.
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| 10. |
- Sonnenwald, D.H., et al.
(författare)
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Illuminating collaboration in emergency health care situations : paramedic-physician collaboration and 3D telepresence technology
- 2014
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Ingår i: Information research. - : University of Sheffield: Department of Information Studies. - 1368-1613. ; 19:2
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Tidskriftsartikel (refereegranskat)abstract
- Introduction. This paper focuses on paramedics' perspectives regarding paramedic-physician collaboration today, and their perspectives regarding the potential of 3D telepresence technology in the future. Method. Interviews were conducted with forty practicing paramedics. Analysis. The interview data were analysed using open and axial coding. An agreement of 0.82 using Cohen's kappa inter-coder reliability measure was reached. After coding was completed themes and relationships among codes were synthesised using topic memos. Results. Paramedics expressed concern about the lack of respect and trust exhibited towards them by other medical professionals. They discussed how they paint the picture for physicians and the importance of the physician trusting the paramedic. They further reported 3D telepresence technology would make their work visible in ways not previously possible. They also reported the technology would require additional training, changes to existing financial models used in emergency health care, and increased access to physicians. Conclusions. Teaching collaboration skills and strategies to physicians and paramedics could benefit their collaboration today, and increase their readiness to effectively use collaboration technologies in the future.
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