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- Bonham, LW, et al.
(författare)
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Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia
- 2019
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Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 9:1, s. 10854-
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Tidskriftsartikel (refereegranskat)abstract
- The semantic variant of primary progressive aphasia (svPPA) is a clinical syndrome characterized by neurodegeneration and progressive loss of semantic knowledge. Unlike many other forms of frontotemporal lobar degeneration (FTLD), svPPA has a highly consistent underlying pathology composed of TDP-43 (a regulator of RNA and DNA transcription metabolism). Previous genetic studies of svPPA are limited by small sample sizes and a paucity of common risk variants. Despite this, svPPA’s relatively homogenous clinicopathologic phenotype makes it an ideal investigative model to examine genetic processes that may drive neurodegenerative disease. In this study, we used GWAS metadata, tissue samples from pathologically confirmed frontotemporal lobar degeneration, and in silico techniques to identify and characterize protein interaction networks associated with svPPA risk. We identified 64 svPPA risk genes that interact at the protein level. The protein pathways represented in this svPPA gene network are critical regulators of RNA metabolism and cell death, such as SMAD proteins and NOTCH1. Many of the genes in this network are involved in TDP-43 metabolism. Contrary to the conventional notion that svPPA is a clinical syndrome with few genetic risk factors, our analyses show that svPPA risk is complex and polygenic in nature. Risk for svPPA is likely driven by multiple common variants in genes interacting with TDP-43, along with cell death,x` working in combination to promote neurodegeneration.
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- Albani, S, et al.
(författare)
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Twelve thousand years of dust : the Holocene global dust cycle constrained by natural archives
- 2015
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Ingår i: Climate of the Past. - : Copernicus GmbH. - 1814-9324 .- 1814-9332. ; 11:6, s. 869-903
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Tidskriftsartikel (refereegranskat)abstract
- Mineral dust plays an important role in the climate system by interacting with radiation, clouds, and biogeochemical cycles. In addition, natural archives show that the dust cycle experienced variability in the past in response to global and local climate change. The compilation of the DIRTMAP paleodust datasets in the last two decades provided a target for paleoclimate models that include the dust cycle, following a time slice approach. We propose an innovative framework to organize a paleodust dataset that moves on from the positive experience of DIRTMAP and takes into account new scientific challenges, by providing a concise and accessible dataset of temporally resolved records of dust mass accumulation rates and particle grain-size distributions. We consider data from ice cores, marine sediments, loess/paleosol sequences, lake sediments, and peat bogs for this compilation, with a temporal focus on the Holocene period. This global compilation allows investigation of the potential, uncertainties and confidence level of dust mass accumulation rates reconstructions, and highlights the importance of dust particle size information for accurate and quantitative reconstructions of the dust cycle. After applying criteria that help to establish that the data considered represent changes in dust deposition, 43 paleodust records have been identified, with the highest density of dust deposition data occurring in the North Atlantic region. Although the temporal evolution of dust in the North Atlantic appears consistent across several cores and suggest that minimum dust fluxes are likely observed during the Early to mid-Holocene period (6000–8000 years ago), the magnitude of dust fluxes in these observations is not fully consistent, suggesting that more work needs to be done to synthesize datasets for the Holocene. Based on the data compilation, we used the Community Earth System Model to estimate the mass balance and variability of the global dust cycle during the Holocene, with dust load ranging from 17.1 to 20.5 Tg between 2000 and 10 000 years ago, and a minimum in the Early to Mid-Holocene (6000–8000 years ago).
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- Muraro, A., et al.
(författare)
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Neutron radiography as a non-destructive method for diagnosing neutron converters for advanced thermal neutron detectors
- 2016
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Ingår i: Journal of Instrumentation. - : Institute of Physics (IOP). - 1748-0221. ; 11:C03033
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Tidskriftsartikel (refereegranskat)abstract
- Due to the well-known problem of He-3 shortage, a series of different thermal neutron detectors alternative to helium tubes are being developed, with the goal to find valid candidates for detection systems for the future spallation neutron sources such as the European Spallation Source (ESS). A possible He-3-free detector candidate is a charged particle detector equipped with a three dimensional neutron converter cathode (3D-C). The 3D-C currently under development is composed by a series of alumina (Al2O3) lamellas coated by 1 mu m of B-10 enriched boron carbide (B4C). In order to obtain a good characterization in terms of detector efficiency and uniformity it is crucial to know the thickness, the uniformity and the atomic composition of the B4C neutron converter coating. In this work a non-destructive technique for the characterization of the lamellas that will compose the 3D-C was performed using neutron radiography. The results of these measurements show that the lamellas that will be used have coating uniformity suitable for detector applications. This technique (compared with SEM, EDX, ERDA, XPS) has the advantage of being global (i.e. non point-like) and non-destructive, thus it is suitable as a check method for mass production of the 3D-C elements.
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