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- 2019
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Journal article (peer-reviewed)
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- Ling, Charlotte, et al.
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Genetic and epigenetic factors are associated with expression of respiratory chain component NDUFB6 in human skeletal muscle.
- 2007
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In: The Journal of clinical investigation. - 0021-9738. ; 117:11, s. 3427-35
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Journal article (peer-reviewed)abstract
- Insulin resistance and type 2 diabetes are associated with decreased expression of genes that regulate oxidative phosphorylation in skeletal muscle. To determine whether this defect might be inherited or acquired, we investigated the association of genetic, epigenetic, and nongenetic factors with expression of NDUFB6, a component of the respiratory chain that is decreased in muscle from diabetic patients. Expression of NDUFB6 was influenced by age, with lower gene expression in muscle of elderly subjects. Heritability of NDUFB6 expression in muscle was estimated to be approximately 60% in twins. A polymorphism in the NDUFB6 promoter region that creates a possible DNA methylation site (rs629566, A/G) was associated with a decline in muscle NDUFB6 expression with age. Although young subjects with the rs629566 G/G genotype exhibited higher muscle NDUFB6 expression, this genotype was associated with reduced expression in elderly subjects. This was subsequently explained by the finding of increased DNA methylation in the promoter of elderly, but not young, subjects carrying the rs629566 G/G genotype. Furthermore, the degree of DNA methylation correlated negatively with muscle NDUFB6 expression, which in turn was associated with insulin sensitivity. Our results demonstrate that genetic, epigenetic, and nongenetic factors associate with NDUFB6 expression in human muscle and suggest that genetic and epigenetic factors may interact to increase age-dependent susceptibility to insulin resistance.
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- Salomonsson, Emma, et al.
(author)
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Mutational tuning of galectin-3 specificity and biological function.
- 2010
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In: The Journal of biological chemistry. - 1083-351X. ; 285, s. 35079-35091
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Journal article (peer-reviewed)abstract
- Galectins are defined by a conserved beta-galactoside binding site, which has been linked to many of their important functions in e.g. cell adhesion, signaling and intracellular trafficking. Weak adjacent sites may enhance or decrease affinity for natural beta-galactoside containing glycoconjugates, but little is known about the biological role of this modulation of affinity (fine specificity). We have now produced 10 mutants of human galectin-3, with changes in these adjacent sites, which have altered carbohydrate-binding fine specificity but which retain the basic beta-galactoside binding activity as show by glycan-array binding and a solution-based fluorescence anisotropy assay. Each mutant was also tested in two biological assays to provide a correlation between fine specificity and function. Galectin-3 R186S, which has selectively lost affinity for LacNAc, a disaccharide moiety commonly found on glycoprotein glycans, has lost the ability to activate neutrophil leukocytes and intracellular targeting into vesicles. K176L has increased affinity for beta-galactosides substituted with GlcNAcbeta1-3 as found in poly-N-acetyllactosaminoglycans, and increased potency to activate neutrophil leukocytes, even though it has lost other aspects of galectin-3 fine specificity. G182A has altered carbohydrate-binding fine specificity and altered intracellular targeting into vesicles, a possible link to the intracellular galectin-3-mediated anti-apoptotic effect known to be lost by this mutant. Finally, the mutants have helped to define the differences in fine specificity shown by Xenopus, mouse and human galectin-3 and as such, evidence for adaptive change during evolution.
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- Thompson, Paul M., et al.
(author)
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The ENIGMA Consortium : large-scale collaborative analyses of neuroimaging and genetic data
- 2014
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In: BRAIN IMAGING BEHAV. - : Springer Science and Business Media LLC. - 1931-7557 .- 1931-7565. ; 8:2, s. 153-182
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Journal article (peer-reviewed)abstract
- The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience, genetics, and medicine, ENIGMA studies have analyzed neuroimaging data from over 12,826 subjects. In addition, data from 12,171 individuals were provided by the CHARGE consortium for replication of findings, in a total of 24,997 subjects. By meta-analyzing results from many sites, ENIGMA has detected factors that affect the brain that no individual site could detect on its own, and that require larger numbers of subjects than any individual neuroimaging study has currently collected. ENIGMA's first project was a genome-wide association study identifying common variants in the genome associated with hippocampal volume or intracranial volume. Continuing work is exploring genetic associations with subcortical volumes (ENIGMA2) and white matter microstructure (ENIGMA-DTI). Working groups also focus on understanding how schizophrenia, bipolar illness, major depression and attention deficit/hyperactivity disorder (ADHD) affect the brain. We review the current progress of the ENIGMA Consortium, along with challenges and unexpected discoveries made on the way.
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- Benrick, Anna, 1979, et al.
(author)
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Electroacupuncture mimics exercise-induced changes in skeletal muscle gene expression in polycystic ovary syndrome women.
- 2020
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In: The Journal of clinical endocrinology and metabolism. - : The Endocrine Society. - 1945-7197 .- 0021-972X. ; 105:6, s. 2027-2041
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Journal article (peer-reviewed)abstract
- Autonomic nervous system activation mediates the increase in whole-body glucose uptake in response to electroacupuncture but the mechanisms are largely unknown.To identify the molecular mechanisms underlying electroacupuncture-induced glucose uptake in skeletal muscle in insulin-resistant overweight/obese women with and without polycystic ovary syndrome (PCOS).Participants: In a case-control study, skeletal muscle biopsies were collected from 15 women with PCOS and 14 controls before and after electroacupuncture. Gene expression and methylation was analyzed using Illumina BeadChips arrays.A single bout of electroacupuncture restores metabolic and transcriptional alterations and induces epigenetic changes in skeletal muscle. Transcriptomic analysis revealed 180 unique genes (q<0.05) whose expression was changed by electroacupuncture, with 95% of the changes towards a healthier phenotype. We identified DNA methylation changes at 304 unique sites (q<0.20), and these changes correlated with altered expression of 101 genes (p<0.05). Among the 50 most upregulated genes in response to electroacupuncture, 38% were also upregulated in response to exercise. We identified a subset of genes that were selectively altered by electroacupuncture in women with PCOS. For example, MSX1 and SRNX1 were decreased in muscle tissue of women with PCOS and were increased by electroacupuncture and exercise. siRNA-mediated silencing of these two genes in cultured myotubes decreased glycogen synthesis, supporting a role for these genes in glucose homeostasis.Our findings provide evidence that electroacupuncture normalizes gene expression in skeletal muscle in a manner similar to acute exercise. Electroacupuncture might therefore be a useful way of assisting those who have difficulties performing exercise.
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- Bergquist, Magnus, 1983, et al.
(author)
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Contest-based and norm-based interventions: (How) do they differ in attitudes, norms, and behaviors?
- 2019
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In: Sustainability. - : MDPI AG. - 2071-1050. ; 11:2
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Journal article (peer-reviewed)abstract
- Setting up a contest is a popular means to promote pro-environmental behaviors. Yet, research on contest-based interventions is scarce while norm-based interventions have gained much attention. In two field experiments, we randomly assigned 79 apartments to either a contest-based or a norm-based electricity conservation intervention and measured kWh usage for 2 and 4 weeks, respectively. Results from both studies showed that contest-based interventions promote intensive but short-lived electricity saving. In Study 1 apartments assigned to a norm-based intervention showed more stable electricity saving (low intensity and long-lasting). Study 2 did not replicate this finding, but supported that participants in the norm-based intervention also engaged in non-targeted behaviors. These results emphasize the importance of identifying how different intervention techniques may activate different goals, framing both how people think about and act upon targeted pro-environmental behaviors.
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- Bolund Lauenstein, Emma, 1978, et al.
(author)
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Identifying associations between TCI personality dimensions and PCL-R psychopathy facets in young male offenders
- 2019
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In: The International Academy of Law and Mental Health (IALMH).
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Conference paper (other academic/artistic)abstract
- Background: The psychopathy construct includes prominent maladaptive personality traits and behaviors. One of the most widely used instruments to asses this construct is the Psychopathy Checklist-Revised (PCL-R). However, little empirical evidence exists regarding how this construct, according to PCL-R, can be understood in relation to theories of personality. Aim: To examine the relationships between components of psychopathy according to PCL-R, and personality dimensions as defined by Cloninger’s Temperament and Character Inventory (TCI). Method: Young violent incarcerated offenders (n = 270) aged 18-25 years were assessed with both PCL R and TCI. A canonical correlation analysis (CCA), a multivariate analysis model, was used to obtain latent covariation between the four components of psychopathy from PCL-R and the seven personality dimensions of TCI to identify the variables that most strongly contributed to an association between these constructs. Results: The CCA resulted in two pairs of significant canonical variates (Rc2 = 0.32 and 0.17), where the full model was significant, Wilk’s λ = 0.51, F(28, 488.17) = 3.61, p < 0.001, indicating that a substantial proportion (i.e., 49 %) of the shared variance between PCL-R and TCI was explained. Overall the latent shared construct between TCI and PCL-R was construed of the temperament dimension Novelty seeking, and the character dimensions Self-directedness and Cooperativeness, and by the psychopathy facets Interpersonal, Lifestyle and Antisocial. Conclusion: Within the present sample, results suggest strong associations between TCI personality dimensions and psychopathy, indicating that psychopathy is possible to describe in more general personality terms. Moreover, the PCL-R psychopathy concept seemed to be more influenced by character than temperament dimensions, a finding important to investigate in future research since character have emerged as susceptible to influence by psychological interventions.
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