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- Tabiri, S, et al.
(författare)
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- 2021
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swepub:Mat__t
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- Bravo, L, et al.
(författare)
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- 2021
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swepub:Mat__t
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- Sliz, E., et al.
(författare)
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Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata
- 2023
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 14:1
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Tidskriftsartikel (refereegranskat)abstract
- Uterine leiomyomata (UL) are the most common tumours of the female genital tract and the primary cause of surgical removal of the uterus. Genetic factors contribute to UL susceptibility. To add understanding to the heritable genetic risk factors, we conduct a genome-wide association study (GWAS) of UL in up to 426,558 European women from FinnGen and a previous UL meta-GWAS. In addition to the 50 known UL loci, we identify 22 loci that have not been associated with UL in prior studies. UL-associated loci harbour genes enriched for development, growth, and cellular senescence. Of particular interest are the smooth muscle cell differentiation and proliferation-regulating genes functioning on the myocardin-cyclin dependent kinase inhibitor 1A pathway. Our results further suggest that genetic predisposition to increased fat-free mass may be causally related to higher UL risk, underscoring the involvement of altered muscle tissue biology in UL pathophysiology. Overall, our findings add to the understanding of the genetic pathways underlying UL, which may aid in developing novel therapeutics.
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| 8. |
- Kuya, J., et al.
(författare)
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Farm living and risk of asthma, atopic eczema, respiratory and food allergy: protocol for a systematic review and meta-analysis
- 2021
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Ingår i: Bmj Open. - : BMJ. - 2044-6055. ; 11:12
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Tidskriftsartikel (refereegranskat)abstract
- Introduction Asthma and allergic disorders are of global concern and risk for their development results from the interplay of genetic and environmental factors. Among numerous environmental factors identified to influence the disease risk, the role of exposure to a farming environment has gained interest in recent times, but the underlying evidence is conflicting. The review aims to comprehensively identify, critically appraise and synthesise evidence from studies investigating the association between farm living and risk of asthma and allergic diseases in children and adults. Methods and analysis We will identify relevant analytical observational epidemiological studies, including cross-sectional, case-control and cohort studies, by searching PubMed, Cochrane Library, Google Scholar, Cumulative Index to Nursing and Allied Health Literature (CINAHL), WHO Global Health Library, Web of Science, Scopus and Embase. Screening of identified records, data extraction from eligible studies and risk of bias assssment of eligible studies will be independently undertaken by two reviewers, with arbitration by a third reviewer. The Effective Public Health Practice Project will be employed for the risk of bias assessment. Estimates from studies judged to be clinically, methodologically and statistically homogeneous will be synthesised using random-effects meta-analysis. Heterogeneity will be assessed using the I-squared statistic. We will consider objectively measured or self-reported asthma, atopic dermatitis/eczema, allergic rhinitis, wheeze, and food allergy as primary outcomes. Ethics and dissemination As this study is based solely on the published literature, no ethics approval is required. The study findings will be presented at scientific meetings related to the field of asthma and allergy and will be published in an international peer-reviewed scientific journal. PROSPERO registration number CRD42020208805.
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- Akkoyun, S., et al.
(författare)
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AGATA - Advanced GAmma Tracking Array
- 2012
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Ingår i: Nuclear Instruments and Methods in Physics Research, Section A: Accelerators, Spectrometers, Detectors and Associated Equipment. - : Elsevier BV. - 0168-9002 .- 0167-5087 .- 1872-9576. ; 668, s. 26-58
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Tidskriftsartikel (refereegranskat)abstract
- The Advanced GAmma Tracking Array (AGATA) is a European project to develop and operate the next generation γ-ray spectrometer. AGATA is based on the technique of γ-ray energy tracking in electrically segmented high-purity germanium crystals. This technique requires the accurate determination of the energy, time and position of every interaction as a γ ray deposits its energy within the detector volume. Reconstruction of the full interaction path results in a detector with very high efficiency and excellent spectral response. The realisation of γ-ray tracking and AGATA is a result of many technical advances. These include the development of encapsulated highly segmented germanium detectors assembled in a triple cluster detector cryostat, an electronics system with fast digital sampling and a data acquisition system to process the data at a high rate. The full characterisation of the crystals was measured and compared with detector- response simulations. This enabled pulse-shape analysis algorithms, to extract energy, time and position, to be employed. In addition, tracking algorithms for event reconstruction were developed. The first phase of AGATA is now complete and operational in its first physics campaign. In the future AGATA will be moved between laboratories in Europe and operated in a series of campaigns to take advantage of the different beams and facilities available to maximise its science output. The paper reviews all the achievements made in the AGATA project including all the necessary infrastructure to operate and support the spectrometer. © 2011 Elsevier B.V. All rights reserved.
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