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- Cotlarciuc, Ioana, et al.
(author)
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Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol.
- 2016
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In: BMJ open. - : BMJ. - 2044-6055. ; 6:11
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Journal article (peer-reviewed)abstract
- Cerebral venous thrombosis (CVT) is a rare cerebrovascular condition accounting for <1% of all stroke cases and mainly affects young adults. Its genetic aetiology is not clearly elucidated.To better understand the genetic basis of CVT, we have established an international biobank of CVT cases, Biorepository to Establish the Aetiology of Sinovenous Thrombosis (BEAST) which aims to recruit highly phenotyped cases initially of European descent and later from other populations. To date we have recruited 745 CVT cases from 12 research centres. As an initial step, the consortium plans to undertake a genome-wide association analysis of CVT using the Illumina Infinium HumanCoreExome BeadChip to assess the association and impact of common and low-frequency genetic variants on CVT risk by using a case-control study design. Replication will be performed to confirm putative findings. Furthermore, we aim to identify interactions of genetic variants with several environmental and comorbidity factors which will likely contribute to improve the understanding of the biological mechanisms underlying this complex disease.BEAST meets all ethical standards set by local institutional review boards for each of the participating sites. The research outcomes will be published in international peer-reviewed open-access journals with high impact and visibility. The results will be presented at national and international meetings to highlight the contributions into improving the understanding of the mechanisms underlying this uncommon but important disease. This international DNA repository will become an important resource for investigators in the field of haematological and vascular disorders.
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- Havela, L., et al.
(author)
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Electrical resistivity of 5f -electron systems affected by static and dynamic spin disorder
- 2017
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In: Physical Review B. - 2469-9950. ; 95:23
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Journal article (peer-reviewed)abstract
- Metallic 5f materials have very strong coupling of magnetic moments and electrons mediating electrical conduction. It is caused by strong spin-orbit interaction, coming with high atomic number Z, together with involvement of the 5f states in metallic bonding. We have used the recently discovered class of uranium (ultra)nanocrystalline hydrides, which are ferromagnets with high ordering temperature, to disentangle the origin of negative temperature coefficient of electrical resistivity. In general, the phenomenon of electrical resistivity decreasing with increasing temperature in metals can have several reasons. The magnetoresistivity study of these hydrides reveals that quantum effects related to spin-disorder scattering can explain the resistivity behavior of a broad class of actinide compounds.
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