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| 2. |
- Martin, Lukas H. J., et al.
(författare)
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Element partitioning between immiscible carbonatite-kamafugite melts with application to the Italian ultrapotassic suite
- 2012
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Ingår i: Chemical Geology. - : Elsevier BV. - 0009-2541 .- 1872-6836. ; 320, s. 96-112
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Tidskriftsartikel (refereegranskat)abstract
- Trace element partition coefficients between conjugate carbonatite-silicate melts are a suitable tool to test whether such natural magmas originated by liquid immiscibility. In the Intra-Apennine Magmatic Province, Central Italy, highly silica-undersaturated ultrapotassic kamafugites coexist with carbonate-rich rocks of controversial nature: a mantle origin and magmatic nature of the carbonatites are indicated by the primitive nature of some kamafugites and by mantle-debris occurring within the kamafugite-carbonate/carbonatite deposits. An alternative hypothesis suggests that the CO2 originates from crustal carbonate assimilation by a basaltic magma, resulting in silica undersaturation of the kamafugite rocks. This experimental study investigates whether carbonatite and kamafugite melts such as the Italian ones can be immiscible at upper mantle conditions. Partition coefficients between conjugate melts determined in this study are compared with calculated element partitioning between natural carbonatite/kamafugite pairs to test a possible origin of the carbonatites by liquid immiscibility. The experiments demonstrate that kamafugite and alkali-rich carbonatite melts are immiscible at 1.7 GPa, 1220 degrees C. Trace element partition coefficients obtained from static- and centrifuging piston cylinder experiments are within factor 5 from unity and deviate less than a factor of 2 from unity for 26 out of 37 trace elements investigated. The alkali- and earth alkali-elements have D-i >= 1, indicating that carbonatite melts in equilibrium with alkaline silicate melts should be at least as alkali-rich as the silicate melts. HFSE partition preferentially into the silicate melt. A comparison of the experimental partition coefficients with natural carbonatite-kamafugite pairs from the Intra Apennine Province reveals good agreement (except for the alkalis), supporting that liquid immiscibility could indeed explain the observed rock suites. Original carbonatite compositions are not well preserved due to secondary leaching that almost completely removed the alkalis leading to significant uncertainties and compositional variations and potentially modified trace element concentrations too. Based on the observed trace element concentrations, large volume assimilation of sedimentary calcite is unlikely. We thus propose that CO2 was already present in the parental primitive magmas forming the kamafugites. The carbonatites formed by unmixing from the silicate magmas and the related CO2-saturation were most probably responsible and triggered the explosive eruptions in the Intra Apennine Province. (C) 2012 Elsevier B.V. All rights reserved.
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- Mueller, Kathrin, et al.
(författare)
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Comprehensive analysis of the mutation spectrum in 301 German ALS families
- 2018
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Ingår i: Journal of Neurology, Neurosurgery and Psychiatry. - : BMJ Publishing Group Ltd. - 0022-3050 .- 1468-330X. ; 89:8, s. 817-827
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Tidskriftsartikel (refereegranskat)abstract
- Objectives Recent advances in amyotrophic lateral sclerosis (ALS) genetics have revealed that mutations in any of more than 25 genes can cause ALS, mostly as an autosomal-dominant Mendelian trait. Detailed knowledge about the genetic architecture of ALS in a specific population will be important for genetic counselling but also for genotype-specific therapeutic interventions.Methods Here we combined fragment length analysis, repeat-primed PCR, Southern blotting, Sanger sequencing and whole exome sequencing to obtain a comprehensive profile of genetic variants in ALS disease genes in 301 German pedigrees with familial ALS. We report C9orf72 mutations as well as variants in consensus splice sites and non-synonymous variants in protein-coding regions of ALS genes. We furthermore estimate their pathogenicity by taking into account type and frequency of the respective variant as well as segregation within the families.Results 49% of our German ALS families carried a likely pathogenic variant in at least one of the earlier identified ALS genes. In 45% of the ALS families, likely pathogenic variants were detected in C9orf72, SOD1, FUS, TARDBP or TBK1, whereas the relative contribution of the other ALS genes in this familial ALS cohort was 4%. We identified several previously unreported rare variants and demonstrated the absence of likely pathogenic variants in some of the recently described ALS disease genes.Conclusions We here present a comprehensive genetic characterisation of German familial ALS. The present findings are of importance for genetic counselling in clinical practice, for molecular research and for the design of diagnostic gene panels or genotype-specific therapeutic interventions in Europe.
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- Nagrani, Rajini, et al.
(författare)
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Association of urinary and ambient black carbon, and other ambient air pollutants with risk of prediabetes and metabolic syndrome in children and adolescents.
- 2023
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Ingår i: Environmental pollution (Barking, Essex : 1987). - : Elsevier BV. - 1873-6424 .- 0269-7491. ; 317
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Tidskriftsartikel (refereegranskat)abstract
- The effects of exposure to black carbon (BC) on various diseases remains unclear, one reason being potential exposure misclassification following modelling of ambient air pollution levels. Urinary BC particles may be a more precise measure to analyze the health effects of BC. We aimed to assess the risk of prediabetes and metabolic syndrome (MetS) in relation to urinary BC particles and ambient BC and to compare their associations in 5453 children from IDEFICS/I. Family cohort. We determined the amount of BC particles in urine using label-free white-light generation under femtosecond pulsed laser illumination. We assessed annual exposure to ambient air pollutants (BC, PM2.5 and NO2) at the place of residence using land use regression models for Europe, and we calculated the residential distance to major roads (≤250m vs. more). We analyzed the cross-sectional relationships between urinary BC and air pollutants (BC, PM2.5 and NO2) and distance to roads, and the associations of all these variables to the risk of prediabetes and MetS, using logistic and linear regression models. Though we did not observe associations between urinary and ambient BC in overall analysis, we observed a positive association between urinary and ambient BC levels in boys and in children living ≤250m to a major road compared to those living >250m away from a major road. We observed a positive association between log-transformed urinary BC particles and MetS (ORper unit increase=1.72, 95% CI=1.21; 2.45). An association between ambient BC and MetS was only observed in children living closer to a major road. Our findings suggest that exposure to BC (ambient and biomarker) may contribute to the risk of MetS in children. By measuring the internal dose, the BC particles in urine may have additionally captured non-residential sources and reduced exposure misclassification. Larger studies, with longitudinal design including measurement of urinary BC at multiple time-points are warranted to confirm our findings.
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- Rampelli, Simone, et al.
(författare)
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Pre-obese children's dysbiotic gut microbiome and unhealthy diets may predict the development of obesity.
- 2018
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Ingår i: Communications biology. - : Springer Science and Business Media LLC. - 2399-3642. ; 1
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Tidskriftsartikel (refereegranskat)abstract
- It is widely accepted that the intestinal microbiome is connected to obesity, as key mediator of the diet impact on the host metabolic and immunological status. To investigate whether the individual gut microbiome has a potential in predicting the onset and progression of diseases, here we characterized the faecal microbiota of 70 children in a two-time point prospective study, within a four-year window. All children had normal weight at the beginning of this study, but 36 of them gained excessive weight at the subsequent check-up. Microbiome data were analysed together with the hosts' diet information, physical activity, and inflammatory parameters. We find that the gut microbiota structures were stratified into a discrete number of groups, characterized by different biodiversity that correlates with inflammatory markers and dietary habits, regardless of age, gender, and body weight. Collectively, our data underscore the importance of the microbiome-host-diet configuration as a possible predictor of obesity.
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| 6. |
- Schnerwitzki, Danny, et al.
(författare)
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Neuron-specific inactivation of Wt1 alters locomotion in mice and changes interneuron composition in the spinal cord
- 2018
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Ingår i: Life Science Alliance. - : Life Science Alliance, LLC. - 2575-1077. ; 1:4
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Tidskriftsartikel (refereegranskat)abstract
- Locomotion is coordinated by neuronal circuits of the spinal cord. Recently, dI6 neurons were shown to participate in the control of locomotion. A subpopulation of dI6 neurons expresses the Wilms tumor suppressor gene Wt1. However, the function of Wt1 in these cells is not understood. Here, we aimed to identify behavioral changes and cellular alterations in the spinal cord associated with Wt1 deletion. Locomotion analyses of mice with neuron-specific Wt1 deletion revealed a slower walk with a decreased stride frequency and an increased stride length. These mice showed changes in their fore-/hindlimb coordination, which were accompanied by a loss of contralateral projections in the spinal cord. Neonates with Wt1 deletion displayed an increase in uncoordinated hindlimb movements and their motor neuron output was arrhythmic with a decreased frequency. The population size of dI6, V0, and V2a neurons in the developing spinal cord of conditional Wt1 mutants was significantly altered. These results show that the development of particular dI6 neurons depends on Wt1 expression and that loss of Wt1 is associated with alterations in locomotion.
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