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- Klar, Joakim, et al.
(författare)
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RAR-related orphan receptor A isoform 1 (RORa1) is disrupted by a balanced translocation t(4;15)(q22.3;q21.3) associated with severe obesity.
- 2005
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Ingår i: Eur J Hum Genet. - 1018-4813.
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Tidskriftsartikel (refereegranskat)abstract
- We have identified a family comprising a mother and two children with idiopathic and profound obesity body mass index (BMI) 41-49 kg/m(2). The three family members carry a balanced reciprocal chromosome translocation t(4;15). We present here the clinical features of the affected individuals as well as the physical mapping and cloning of the chromosomal breakpoints. A detailed characterisation of the chromosomal breakpoints at chromosomes 4 and 15 revealed that the translocation is almost perfectly balanced with a very short insertion/deletion.The chromosome 15 breakpoint is positioned in intron 1 of the RAR-related orphan receptor A isoform 1 (RORa1) and the chromosome 4 breakpoint is positioned 133 kb telomeric to the transcriptional start of the unc-5 homolog B (UNC5C) and 154 kb centromeric of the transcriptional start of the pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2). The rearrangement creates a fusion gene, which includes the RORa1 exon 1 and UNC5C that is expressed in frame in adipocytes from the affected patients. We also show that this transcript is translated into a protein. From previous reports, it is shown that RORa1 is implicated in the regulation of adipogenesis and lipoprotein metabolism. We hypothesise that the obesity in this family is caused by (i) haploinsufficiency for RORa1 or, (ii) a gain of function mechanism mediated by the RORa1-UNC5C fusion gene.
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- Lindgren, Eva, et al.
(författare)
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Skrivande för delaktighet och demokrati
- 2022. - 1
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Ingår i: Skrivdidaktik i grundskolan. - Lund : Studentlitteratur AB. - 9789144144931 ; , s. 43-67
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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- Mårtensson, Ellen, et al.
(författare)
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Evaluating the Impact of Strategies on Students’ Perceptions of Digital Transformation – A Case Study of a Swedish Higher Education Institution
- 2023
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Ingår i: 9th International Conference on Higher Education Advances (HEAd’23). - : ITACA - Universitat Politècnica de València, Spain. - 9788413960852 ; , s. 1375-1382
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Konferensbidrag (refereegranskat)abstract
- Digital transformation (DT) in Higher Education Institutions (HEIs) affects the learning environment with digitally-enhanced teaching methods, student assistance, and administration processes. HEIs develop strategies to exploit the chances offered by DT. Our study investigates the connection between the strategic work of HEIs on DT and how students perceive the results of this work in their daily studies. We applied a case study design on a Swedish HEI to gather our results. Results show that students are somewhat positive about the strategic work but still perceive digitalization as a barrier to collaborating with peers and lecturers. Our research contributes to knowing if the time and effort spent on an HEI’s DT impact the student stakeholder group. By bringing forth ways of improvement, we generate new knowledge about DT processes in HEIs. Thus, we inspire educators and administrators in this industry by putting forward lessons learned and improvements.
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- Platt, Stephen M., et al.
(författare)
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Atmospheric composition in the European Arctic and 30 years of the Zeppelin Observatory, Ny-Ålesund
- 2022
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Ingår i: Atmospheric Chemistry And Physics. - : Copernicus GmbH. - 1680-7316 .- 1680-7324. ; 22:5, s. 3321-3369
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Tidskriftsartikel (refereegranskat)abstract
- The Zeppelin Observatory (78.90∘ N, 11.88∘ E) is located on Zeppelin Mountain at 472 m a.s.l. on Spitsbergen, the largest island of the Svalbard archipelago. Established in 1989, the observatory is part of Ny-Ålesund Research Station and an important atmospheric measurement site, one of only a few in the high Arctic, and a part of several European and global monitoring programmes and research infrastructures, notably the European Monitoring and Evaluation Programme (EMEP); the Arctic Monitoring and Assessment Programme (AMAP); the Global Atmosphere Watch (GAW); the Aerosol, Clouds and Trace Gases Research Infrastructure (ACTRIS); the Advanced Global Atmospheric Gases Experiment (AGAGE) network; and the Integrated Carbon Observation System (ICOS). The observatory is jointly operated by the Norwegian Polar Institute (NPI), Stockholm University, and the Norwegian Institute for Air Research (NILU). Here we detail the establishment of the Zeppelin Observatory including historical measurements of atmospheric composition in the European Arctic leading to its construction. We present a history of the measurements at the observatory and review the current state of the European Arctic atmosphere, including results from trends in greenhouse gases, chlorofluorocarbons (CFCs) and hydrochlorofluorocarbons (HCFCs), other traces gases, persistent organic pollutants (POPs) and heavy metals, aerosols and Arctic haze, and atmospheric transport phenomena, and provide an outline of future research directions.
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- Ström, Peter, 1984-, et al.
(författare)
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Discourse of influence : participation and opinions in digital and print media
- 2024
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Ingår i: Sakprosa. - Oslo : Universitetet i Oslo. - 1502-6000 .- 1891-5108. ; 16:1, s. 1-34
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Tidskriftsartikel (refereegranskat)abstract
- In democratic societies, exchange of written opinion is fundamental, but since the 1990s, public debate has gradually moved away from print media platforms to digital media platforms. In order to understand how a shift from print to digital media in opinion-oriented writing may have consequences for interaction and participation, it is relevant to investigate interpersonal aspects of opinion-oriented texts situated in digital and print media. The aim of the study is to explore and compare writers’ attitudes and the construction of the writer-reader-relationship in digital media (represented by Twitter) and (traditionally) print media (represented by letters to the editor, LEs). Bakhtinian dialogism and appraisal theory form the theoretical backdrop of the study. Results show that in the LEs, writers tend to take a negative general value position, but in the tweets, the writers’ attitude is more often either positive or negative, making Twitter a more diverse platform. Furthermore, attitudinal meaning is more transparent in the LEs, indicating that tweets are more often specialized, and readers who are not familiar with the context and interactional style of specific writers may be excluded from the communication. Another result is that a shift from print to digital media platforms seems to turn the focus of discussion more towards attitudes and perspectives in general, and less towards writers’ own attitudes. Therefore, digital media opinion exchange can be understood as a meta-discussion of attitudes, while print media rather transmit writers’ personal attitudes.
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