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| 2. |
- Buch, S., et al.
(författare)
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Genetic variation in TERT modifies the risk of hepatocellular carcinoma in alcohol-related cirrhosis: results from a genome-wide case-control study
- 2023
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Ingår i: Gut. - : BMJ. - 0017-5749 .- 1468-3288. ; 72:2, s. 381-391
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Tidskriftsartikel (refereegranskat)abstract
- Objective Hepatocellular carcinoma (HCC) often develops in patients with alcohol-related cirrhosis at an annual risk of up to 2.5%. Some host genetic risk factors have been identified but do not account for the majority of the variance in occurrence. This study aimed to identify novel susceptibility loci for the development of HCC in people with alcohol related cirrhosis. Design Patients with alcohol-related cirrhosis and HCC (cases: n=1214) and controls without HCC (n=1866), recruited from Germany, Austria, Switzerland, Italy and the UK, were included in a two-stage genome-wide association study using a case-control design. A validation cohort of 1520 people misusing alcohol but with no evidence of liver disease was included to control for possible association effects with alcohol misuse. Genotyping was performed using the InfiniumGlobal Screening Array (V.24v2, Illumina) and the OmniExpress Array (V.24v1-0a, Illumina). Results Associations with variants rs738409 in PNPLA3 and rs58542926 in TM6SF2 previously associated with an increased risk of HCC in patients with alcohol-related cirrhosis were confirmed at genome-wide significance. A novel locus rs2242652(A) in TERT (telomerase reverse transcriptase) was also associated with a decreased risk of HCC, in the combined meta-analysis, at genome-wide significance (p=6.41x10(-9), OR=0.61 (95% CI 0.52 to 0.70). This protective association remained significant after correction for sex, age, body mass index and type 2 diabetes (p=7.94x10(-5), OR=0.63 (95% CI 0.50 to 0.79). Carriage of rs2242652(A) in TERT was associated with an increased leucocyte telomere length (p=2.12x10(-44)). Conclusion This study identifies rs2242652 in TERT as a novel protective factor for HCC in patients with alcohol-related cirrhosis.
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| 3. |
- Jonauskaite, D., et al.
(författare)
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Universal Patterns in Color-Emotion Associations Are Further Shaped by Linguistic and Geographic Proximity
- 2020
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Ingår i: Psychological Science. - : SAGE Publications Inc.. - 0956-7976 .- 1467-9280. ; 31:10, s. 1245-1260
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Tidskriftsartikel (refereegranskat)abstract
- Many of us “see red,” “feel blue,” or “turn green with envy.” Are such color-emotion associations fundamental to our shared cognitive architecture, or are they cultural creations learned through our languages and traditions? To answer these questions, we tested emotional associations of colors in 4,598 participants from 30 nations speaking 22 native languages. Participants associated 20 emotion concepts with 12 color terms. Pattern-similarity analyses revealed universal color-emotion associations (average similarity coefficient r =.88). However, local differences were also apparent. A machine-learning algorithm revealed that nation predicted color-emotion associations above and beyond those observed universally. Similarity was greater when nations were linguistically or geographically close. This study highlights robust universal color-emotion associations, further modulated by linguistic and geographic factors. These results pose further theoretical and empirical questions about the affective properties of color and may inform practice in applied domains, such as well-being and design. © The Author(s) 2020.
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| 6. |
- de la Hoz, P., et al.
(författare)
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Multipolar hierarchy of efficient quantum polarization measures
- 2013
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Ingår i: Physical Review A. Atomic, Molecular, and Optical Physics. - 1050-2947 .- 1094-1622. ; 88:6, s. 063803-
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Tidskriftsartikel (refereegranskat)abstract
- We advocate a simple multipole expansion of the polarization density matrix. The resulting multipoles appear as successive moments of the Stokes variables and can be obtained from feasible measurements. In terms of these multipoles we construct a whole hierarchy of measures that accurately assess higher-order polarization fluctuations.
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| 7. |
- Jonauskaite, Domicele, et al.
(författare)
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A comparative analysis of colour–emotion associations in 16–88-year-old adults from 31 countries
- 2024
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Ingår i: British Journal of Psychology. - : John Wiley and Sons Ltd. - 0007-1269 .- 2044-8295. ; 115:2, s. 275-
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Tidskriftsartikel (refereegranskat)abstract
- As people age, they tend to spend more time indoors, and the colours in their surroundings may significantly impact their mood and overall well-being. However, there is a lack of empirical evidence to provide informed guidance on colour choices, irrespective of age group. To work towards informed choices, we investigated whether the associations between colours and emotions observed in younger individuals also apply to older adults. We recruited 7393 participants, aged between 16 and 88 years and coming from 31 countries. Each participant associated 12 colour terms with 20 emotion concepts and rated the intensity of each associated emotion. Different age groups exhibited highly similar patterns of colour–emotion associations (average similarity coefficient of.97), with subtle yet meaningful age-related differences. Adolescents associated the greatest number but the least positively biased emotions with colours. Older participants associated a smaller number but more intense and more positive emotions with all colour terms, displaying a positivity effect. Age also predicted arousal and power biases, varying by colour. Findings suggest parallels in colour–emotion associations between younger and older adults, with subtle but significant age-related variations. Future studies should next assess whether colour–emotion associations reflect what people actually feel when exposed to colour.
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| 8. |
- Klimov, A. B., et al.
(författare)
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Assessing the Polarization of a Quantum Field from Stokes Fluctuations
- 2010
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Ingår i: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 105:15, s. 153602-
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Tidskriftsartikel (refereegranskat)abstract
- We propose an operational degree of polarization in terms of the variance of the Stokes vector minimized over all the directions of the Poincare sphere. We examine the properties of this second-order definition and carry out its experimental determination. Quantum states with the same standard (first-order) degree of polarization are correctly discriminated by this new measure. We argue that a comprehensive quantum characterization of polarization properties requires a whole hierarchy of higher-order degrees.
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| 9. |
- Park, Julien H., et al.
(författare)
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L-Fucose treatment of FUT8-CDG
- 2020
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Ingår i: Molecular Genetics and Metabolism Reports. - : Elsevier. - 2214-4269. ; 25
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Tidskriftsartikel (refereegranskat)abstract
- FUT8-CDG is a severe multisystem disorder caused by mutations in FUT8, encoding the alpha-1,6-fucosyltransferase. We report on dizygotic twins with FUT8-CDG presenting with dysmorphisms, failure to thrive, and respiratory abnormalities. Due to the severe phenotype, oral L-fucose supplementation was started. Glycosylation analysis using mass spectrometry indicated a limited response to fucose therapy while the clinical presentation stabilized. Further research is needed to assess the concept of substrate supplementation in FUT8-CDG.
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| 10. |
- Park, Julien H., et al.
(författare)
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N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency
- 2020
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Ingår i: Journal of Inherited Metabolic Disease. - : John Wiley & Sons. - 0141-8955 .- 1573-2665. ; 43:6, s. 1370-1381
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Tidskriftsartikel (refereegranskat)abstract
- Congenital disorders of glycosylation (CDG) are a growing group of inborn metabolic disorders with multiorgan presentation. SLC39A8‐CDG is a severe subtype caused by biallelic mutations in the manganese transporter SLC39A8, reducing levels of this essential cofactor for many enzymes including glycosyltransferases. The current diagnostic standard for disorders of N‐glycosylation is the analysis of serum transferrin. Exome and Sanger sequencing were performed in two patients with severe neurodevelopmental phenotypes suggestive of CDG. Transferrin glycosylation was analyzed by high‐performance liquid chromatography (HPLC) and isoelectric focusing in addition to comprehensive N‐glycome analysis using matrix‐assisted laser desorption ionization time of flight (MALDI‐TOF) mass spectrometry (MS). Atomic absorption spectroscopy was used to quantify whole blood manganese levels. Both patients presented with a severe, multisystem disorder, and a complex neurological phenotype. Magnetic resonance imaging (MRI) revealed a Leigh‐like syndrome with bilateral T2 hyperintensities of the basal ganglia. In patient 1, exome sequencing identified the previously undescribed homozygous variant c.608T>C [p.F203S] in SLC39A8. Patient 2 was found to be homozygous for c.112G>C [p.G38R]. Both individuals showed a reduction of whole blood manganese, though transferrin glycosylation was normal. N‐glycome using MALDI‐TOF MS identified an increase of the asialo‐agalactosylated precursor N‐glycan A2G1S1 and a decrease in bisected structures. In addition, analysis of heterozygous CDG‐allele carriers identified similar but less severe glycosylation changes. Despite its reliance as a clinical gold standard, analysis of transferrin glycosylation cannot be categorically used to rule out SLC39A8‐CDG. These results emphasize that SLC39A8‐CDG presents as a spectrum of dysregulated glycosylation, and MS is an important tool for identifying deficiencies not detected by conventional methods.
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