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- Cederberg, B., et al.
(författare)
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Tvåvingar
- 2010
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Ingår i: Rödlistade arter i Sverige 2010. - 9789188506351 ; , s. 185-202
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- Abstract is not available
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| 3. |
- Ameur, Adam, et al.
(författare)
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SweGen : a whole-genome data resource of genetic variability in a cross-section of the Swedish population
- 2017
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Ingår i: European Journal of Human Genetics. - : NATURE PUBLISHING GROUP. - 1018-4813 .- 1476-5438. ; 25:11, s. 1253-1260
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Tidskriftsartikel (refereegranskat)abstract
- Here we describe the SweGen data set, a comprehensive map of genetic variation in the Swedish population. These data represent a basic resource for clinical genetics laboratories as well as for sequencing-based association studies by providing information on genetic variant frequencies in a cohort that is well matched to national patient cohorts. To select samples for this study, we first examined the genetic structure of the Swedish population using high-density SNP-array data from a nation-wide cohort of over 10 000 Swedish-born individuals included in the Swedish Twin Registry. A total of 1000 individuals, reflecting a cross-section of the population and capturing the main genetic structure, were selected for whole-genome sequencing. Analysis pipelines were developed for automated alignment, variant calling and quality control of the sequencing data. This resulted in a genome-wide collection of aggregated variant frequencies in the Swedish population that we have made available to the scientific community through the website https://swefreq.nbis.se. A total of 29.2 million single-nucleotide variants and 3.8 million indels were detected in the 1000 samples, with 9.9 million of these variants not present in current databases. Each sample contributed with an average of 7199 individual-specific variants. In addition, an average of 8645 larger structural variants (SVs) were detected per individual, and we demonstrate that the population frequencies of these SVs can be used for efficient filtering analyses. Finally, our results show that the genetic diversity within Sweden is substantial compared with the diversity among continental European populations, underscoring the relevance of establishing a local reference data set.
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| 4. |
- Binzer-Panchal, Amrei, et al.
(författare)
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Integrated Molecular Analysis of Undifferentiated Uterine Sarcomas Reveals Clinically Relevant Molecular Subtypes
- 2019
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Ingår i: Clinical Cancer Research. - : AMER ASSOC CANCER RESEARCH. - 1078-0432 .- 1557-3265. ; 25:7, s. 2155-2165
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: Undifferentiated uterine sarcomas (UUS) are rare, extremely deadly, sarcomas with no effective treatment. The goal of this study was to identify novel intrinsic molecular UUS subtypes using integrated clinical, histopathologic, and molecular evaluation of a large, fully annotated, patient cohort.Experimental Design: Fifty cases of UUS with full clinicopathologic annotation were analyzed for gene expression (n = 50), copy-number variation (CNV, n = 40), cell morphometry (n = 39), and protein expression (n = 22). Gene ontology and network enrichment analysis were used to relate over-and underexpressed genes to pathways and further to clinicopathologic and phenotypic findings.Results: Gene expression identified four distinct groups of tumors, which varied in their clinicopathologic parameters. Gene ontology analysis revealed differential activation of pathways related to genital tract development, extracellular matrix (ECM), muscle function, and proliferation. A multivariable, adjusted Cox proportional hazard model demonstrated that RNA group, mitotic index, and hormone receptor expression influence patient overall survival (OS). CNV arrays revealed characteristic chromosomal changes for each group. Morphometry demonstrated that the ECM group, the most aggressive, exhibited a decreased cell density and increased nuclear area. A cell density cutoff of 4,300 tumor cells per mm(2) could separate ECM tumors from the remaining cases with a sensitivity of 83% and a specificity of 94%. IHC staining of MMP-14, Collagens 1 and 6, and Fibronectin proteins revealed differential expression of these ECM-related proteins, identifying potential new biomarkers for this aggressive sarcoma subgroup. Conclusions: Molecular evaluation of UUS provides novel insights into the biology, prognosis, phenotype, and possible treatment of these tumors.
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| 8. |
- Reyahi, Azadeh, et al.
(författare)
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An IKBKE variant conferring functional cGAS/STING pathway deficiency and susceptibility to recurrent HSV-2 meningitis.
- 2023
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Ingår i: JCI insight. - 2379-3708. ; 8:21
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Tidskriftsartikel (refereegranskat)abstract
- The mechanisms underlying susceptibility to recurrent herpes simplex virus type 2 (HSV-2) meningitis remain incompletely understood. In a patient experiencing multiple episodes of HSV-2 meningitis, we identified a monoallelic variant in the IKBKE gene, which encodes the IKKε kinase involved in induction of antiviral IFN genes. Patient cells displayed impaired induction of IFN-β1 (IFNB1) expression upon infection with HSV-2 or stimulation with double-stranded DNA (dsDNA) and failed to induce phosphorylation of STING, an activation marker of the DNA-sensing cyclic GMP-AMP synthase/stimulator of IFN genes (cGAS/STING) pathway. The patient allele encoded a truncated IKKε protein with loss of kinase activity and also capable of exerting dominant-negative activity. In stem cell-derived microglia, HSV-2-induced expression of IFNB1 was dependent on cGAS, TANK binding kinase 1 (TBK1), and IKBKE, but not TLR3, and supernatants from HSV-2-treated microglia exerted IKBKE-dependent type I IFN-mediated antiviral activity upon neurons. Reintroducing wild-type IKBKE into patient cells rescued IFNB1 induction following treatment with HSV-2 or dsDNA and restored antiviral activity. Collectively, we identify IKKε to be important for protection against HSV-2 meningitis and suggest a nonredundant role for the cGAS/STING pathway in human antiviral immunity.
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| 9. |
- Rogersdotter, Elke
(författare)
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The Forgotten : an Approach on Harappan Toy Artefacts
- 2006
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Licentiatavhandling (övrigt vetenskapligt/konstnärligt)abstract
- This thesis proposes an alternative perspective to the general neglect of toy materials from deeper analysis in archaeology. Based on a study of selected toy artefacts from the Classical Harappan settlement at Bagasra, Gujarat, it suggests a viable way of approaching the objects when considering them within a theoretical framework highlighting their social aspects. The study agrees with objections in e.g. parts of gender archaeology and research on children in archaeology to the extrapolating from the marginalized child of the West onto past social structures. Departing from revised toy definitions formulated in disciplines outside archaeology, it proceeds with the objects’ toy identifications while rejecting a ‘transforming’ of these into other interpretations. Thus entering a quite unexplored research field, grounded theory is used as working method. As the items indicate a regulated pattern, the opinion on toy artefacts as randomly scattered around becomes questioned. Using among others the capital concept by Bourdieu, the notion of micropower by Foucault and parts of the newly developed ideas of microarchaeology, the toy-role of the artefacts is emphasized as crucial, enabling the items to express diverse social uses in addition to their possible function as children’s (play)things. With this, the notion of the limiting connection of toys to playing children becomes unravelled, opening for a discussion on enlarged dimensions of the toys and a possible re-naming of them as the materialities of next generation. While suggesting the items to indicate various social strategies and structurating practices, the need for traditional boundaries and separated entities successively becomes eliminated. The traditionally stated toy obstacles with cultural loading and elusive distinctions can with this be proposed as constructions, possible to avoid. The toy concept simultaneously emerges as particularly useful in highlighting the notion of change and continuity within the social structure and children’s roles in this.
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