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- Manzoni, Claudia, et al.
(författare)
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Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia
- 2024
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Ingår i: American Journal of Human Genetics. - 0002-9297. ; 111:7, s. 1316-1329
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Tidskriftsartikel (refereegranskat)abstract
- Frontotemporal dementia (FTD) is the second most common cause of early-onset dementia after Alzheimer disease (AD). Efforts in the field mainly focus on familial forms of disease (fFTDs), while studies of the genetic etiology of sporadic FTD (sFTD) have been less common. In the current work, we analyzed 4,685 sFTD cases and 15,308 controls looking for common genetic determinants for sFTD. We found a cluster of variants at the MAPT (rs199443; p = 2.5 × 10−12, OR = 1.27) and APOE (rs6857; p = 1.31 × 10−12, OR = 1.27) loci and a candidate locus on chromosome 3 (rs1009966; p = 2.41 × 10−8, OR = 1.16) in the intergenic region between RPSA and MOBP, contributing to increased risk for sFTD through effects on expression and/or splicing in brain cortex of functionally relevant in-cis genes at the MAPT and RPSA-MOBP loci. The association with the MAPT (H1c clade) and RPSA-MOBP loci may suggest common genetic pleiotropy across FTD and progressive supranuclear palsy (PSP) (MAPT and RPSA-MOBP loci) and across FTD, AD, Parkinson disease (PD), and cortico-basal degeneration (CBD) (MAPT locus). Our data also suggest population specificity of the risk signals, with MAPT and APOE loci associations mainly driven by Central/Nordic and Mediterranean Europeans, respectively. This study lays the foundations for future work aimed at further characterizing population-specific features of potential FTD-discriminant APOE haplotype(s) and the functional involvement and contribution of the MAPT H1c haplotype and RPSA-MOBP loci to pathogenesis of sporadic forms of FTD in brain cortex.
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- Turner, Lucy M., et al.
(författare)
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Metabolic responses to high pCO2 conditions at a CO2 vent site in juveniles of a marine isopod species assemblage
- 2016
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Ingår i: Marine Biology. - : Springer Science and Business Media LLC. - 0025-3162 .- 1432-1793. ; 163:10
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Tidskriftsartikel (refereegranskat)abstract
- We are starting to understand the relationship between metabolic rate responses and species’ ability to respond to exposure to high pCO2. However, most of our knowledge has come from investigations of single species. The examination of metabolic responses of closely related species with differing distributions around natural elevated CO2 areas may be useful to inform our understanding of their adaptive significance. Furthermore, little is known about the physiological responses of marine invertebrate juveniles to high pCO2, despite the fact they are known to be sensitive to other stressors, often acting as bottlenecks for future species success. We conducted an in situ transplant experiment using juveniles of isopods found living inside and around a high pCO2 vent (Ischia, Italy): the CO2 ‘tolerant’ Dynamene bifida and ‘sensitive’ Cymodoce truncata and Dynamene torelliae. This allowed us to test for any generality of the hypothesis that pCO2 sensitive marine invertebrates may be those that experience trade-offs between energy metabolism and cellular homoeostasis under high pCO2 conditions. Both sensitive species were able to maintain their energy metabolism under high pCO2 conditions, but in C. truncata this may occur at the expense of [carbonic anhydrase], confirming our hypothesis. By comparison, the tolerant D. bifida appeared metabolically well adapted to high pCO2, being able to upregulate ATP production without recourse to anaerobiosis. These isopods are important keystone species; however, given they differ in their metabolic responses to future pCO2, shifts in the structure of the marine ecosystems they inhabit may be expected under future ocean acidification conditions. © 2016, The Author(s).
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- Albani, D, et al.
(författare)
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Insulin-like growth factor 1 receptor polymorphism rs2229765 and circulating interleukin-6 level affect male longevity in a population-based prospective study (Treviso Longeva--TRELONG).
- 2011
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Ingår i: The Aging Male. - 1368-5538. ; 14:4, s. 257-264
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Tidskriftsartikel (refereegranskat)abstract
- Insulin-like growth factor 1 (IGF-1) signaling modulation has been associated with increased lifespan in model organisms, while high levels of circulating interleukin-6 (IL-6) are a marker of disability and mortality. In the prospective, population-based "Treviso Longeva"--TRELONG Study from Italy (n = 668, age range 70-105.5 years at baseline, followed for seven years) we investigated the effects of survival on the IGF-1 receptor (IGF-1R) gene polymorphism rs2229765, the IL-6 gene promoter polymorphism rs1800795, and plasma concentrations of IGF-1 and IL-6, alone or in combination. We found a sex-dependent effect for the IGF-1R rs2229765 polymorphism, as male carriers of the homozygous A/A genotype survived longer, while the IL-6 rs1800795 genotype did not influence overall or sex-specific longevity. Higher IL-6 levels were more detrimental for survival among males than females, while IGF-1 had no dose-response effect. These findings sustain the hypothesis that sex-specific longevity relies on detectable differences in genetic and biochemical parameters between males and females.
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- Gallucci, M, et al.
(författare)
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Factors related to disability: Evidence from the "Treviso Longeva (TRELONG) Study"
- 2010
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Ingår i: Archives of gerontology and geriatrics. - : Elsevier BV. - 1872-6976 .- 0167-4943. ; 52:3, s. 309-16
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Tidskriftsartikel (refereegranskat)abstract
- Prolongation of life is an important public health goal as long as there is an emphasis on the quality of life (QoL) and independent living. Diminishing abilities to ambulate and participate in activities of daily living point to a serious decline in functional health, increasing the risk of institutionalization and death. In our work we found a pattern of factors associated with disability, especially cognitive impairment, as well as stroke, physical activity and performance, reading, and the nutritional biomarkers, blood albumin and high-density lipoprotein cholesterol (HDL-C). The attention to this cluster of markers, suggesting multidimensional prevention, may have unexpected good effects against disability.
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- Gustafson, Deborah, 1966, et al.
(författare)
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Body Mass Index, Cognition, Disability, APOE Genotype, and Mortality: The "Treviso Longeva" Study
- 2012
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Ingår i: American Journal of Geriatric Psychiatry. - 1064-7481. ; 20:7, s. 594-602
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Tidskriftsartikel (refereegranskat)abstract
- Objectives: The concurrent contributions of dynamic, interrelated late-life parameters, such as bodymass index (BMI), cognition, and physical functioning on mortality in the elderly are unclear, as is the influence of APOE genotype. We explored these measures in relation to 7-year mortality in long-lived Italian elderly. Design: A representative, age-stratified, population sample. Setting: The Treviso Longeva (TRELONG) Study, in Treviso, Italy. Participants: Three hundred eleven men and 357 women, aged 70 years and older (mean age 84 +/- 8 years). Measurements: Seven-year mortality, BMI, Mini-Mental State Examination (MMSE) score, Activities of Daily Living (ADL), APOE genotype, and a variety of clinical and survey data. Results: In separate age-and sex-adjusted analyses, BMI <18.5 kg/m(2), MMSE <= 24, and ADL <6, were associated with greater 7-year mortality among adults aged 70 years and older. In a multivariate model including all factors, MMSE <= 24, and ADL <6 were associated with greater mortality; BMI >= 30 kg/m(2) was protective. There were no interactions between BMI, MMSE, or ADL. When excluding those dying within 3 years of baseline, only an MMSE <= 24 was related to mortality. APOE epsilon 4 was not related to mortality. Conclusion: Higher MMSE score, higher ADL score, and higher BMI, independent of age, sex, and other factors, are markers for longer life among northern Italian adults aged 70 years or older. Global cognition, BMI, and physical functioning, assessed by short, simple tests are profound indicators of death within less than a decade. (Am J Geriatr Psychiatry 2012; 20:594-602)
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- Turner, Lucy M., et al.
(författare)
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Energy metabolism and cellular homeostasis trade-offs provide the basis for a new type of sensitivity to ocean acidification in a marine polychaete at a high-CO2 vent: adenylate and phosphagen energy pools versus carbonic anhydrase
- 2015
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Ingår i: Journal of Experimental Biology. - : The Company of Biologists. - 0022-0949 .- 1477-9145. ; 218:14, s. 2148-2151
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Tidskriftsartikel (refereegranskat)abstract
- Species distributions and ecology can often be explained by their physiological sensitivity to environmental conditions. Whilst we have a relatively good understanding of how these are shaped by temperature, for other emerging drivers, such as P-CO2 we know relatively little. The marine polychaete Sabella spallanzanii increases its metabolic rate when exposed to high P-CO2 conditions and remains absent from the CO2 vent of Ischia. To understand new possible pathways of sensitivity to CO2 in marine ectotherms, we examined the metabolic plasticity of S. spallanzanii exposed in situ to elevated P-CO2 by measuring fundamental metabolite and carbonic anhydrase concentrations. We show that whilst this species can survive elevated P-CO2 conditions in the short term, and exhibits an increase in energy metabolism, this is accompanied by a significant decrease in carbonic anhydrase concentration. These homeostatic changes are unlikely to be sustainable in the longer term, indicating S. spallanzanii may struggle with future high P-CO2 conditions.
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- Tiselius, HG, et al.
(författare)
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Guidelines on urolithiasis
- 2001
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Ingår i: European urology. - : Elsevier BV. - 0302-2838 .- 1421-993X. ; 40:4, s. 362-371
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Tidskriftsartikel (refereegranskat)
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| 16. |
- Van Doesum, Niels J., et al.
(författare)
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Social mindfulness and prosociality vary across the globe
- 2021
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Ingår i: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences. - 0027-8424 .- 1091-6490. ; 118:35
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Tidskriftsartikel (refereegranskat)abstract
- Humans are social animals, but not everyone will be mindful of others to the same extent. Individual differences have been found, but would social mindfulness also be shaped by one's location in the world? Expecting cross-national differences to exist, we examined if and how social mindfulness differs across countries. At little to no material cost, social mindfulness typically entails small acts of attention or kindness. Even though fairly common, such low-cost cooperation has received little empirical attention. Measuring social mindfulness across 31 samples from industrialized countries and regions (n = 8,354), we found considerable variation. Among selected country-level variables, greater social mindfulness was most strongly associated with countries' better general performance on environmental protection. Together, our findings contribute to the literature on prosociality by targeting the kind of everyday cooperation that is more focused on communicating benevolence than on providing material benefits.
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