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- Bernhardt, A. M., et al.
(författare)
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A unified classification approach rating clinical utility of protein biomarkers across neurologic diseases
- 2023
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Ingår i: Ebiomedicine. - : Elsevier BV. - 2352-3964. ; 89
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Tidskriftsartikel (refereegranskat)abstract
- A major evolution from purely clinical diagnoses to biomarker supported clinical diagnosing has been occurring over the past years in neurology. High-throughput methods, such as next-generation sequencing and mass spectrometry-based proteomics along with improved neuroimaging methods, are accelerating this development. This calls for a consensus framework that is broadly applicable and provides a spot-on overview of the clinical validity of novel biomarkers. We propose a harmonized terminology and a uniform concept that stratifies biomarkers according to clinical context of use and evidence levels, adapted from existing frameworks in oncology with a strong focus on (epi) genetic markers and treatment context. We demonstrate that this framework allows for a consistent assessment of clinical validity across disease entities and that sufficient evidence for many clinical applications of protein biomarkers is lacking. Our framework may help to identify promising biomarker candidates and classify their applications by clinical context, aiming for routine clinical use of (protein) biomarkers in neurology. Copyright (c) 2023 The Author(s). Published by Elsevier B.V. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
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- Galeski, S., et al.
(författare)
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Origin of the quasi-quantized Hall effect in ZrTe 5
- 2021
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723 .- 2041-1723. ; 12:1
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Tidskriftsartikel (refereegranskat)abstract
- The quantum Hall effect (QHE) is traditionally considered to be a purely two-dimensional (2D) phenomenon. Recently, however, a three-dimensional (3D) version of the QHE was reported in the Dirac semimetal ZrTe . It was proposed to arise from a magnetic-field-driven Fermi surface instability, transforming the original 3D electron system into a stack of 2D sheets. Here, we report thermodynamic, spectroscopic, thermoelectric and charge transport measurements on such ZrTe samples. The measured properties: magnetization, ultrasound propagation, scanning tunneling spectroscopy, and Raman spectroscopy, show no signatures of a Fermi surface instability, consistent with in-field single crystal X-ray diffraction. Instead, a direct comparison of the experimental data with linear response calculations based on an effective 3D Dirac Hamiltonian suggests that the quasi-quantization of the observed Hall response emerges from the interplay of the intrinsic properties of the ZrTe electronic structure and its Dirac-type semi-metallic character.
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- Gomes, CPC, et al.
(författare)
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Catalyzing Transcriptomics Research in Cardiovascular Disease: The CardioRNA COST Action CA17129
- 2019
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Ingår i: Non-coding RNA. - : MDPI AG. - 2311-553X. ; 5:2
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Tidskriftsartikel (refereegranskat)abstract
- Cardiovascular disease (CVD) remains the leading cause of death worldwide and, despite continuous advances, better diagnostic and prognostic tools, as well as therapy, are needed. The human transcriptome, which is the set of all RNA produced in a cell, is much more complex than previously thought and the lack of dialogue between researchers and industrials and consensus on guidelines to generate data make it harder to compare and reproduce results. This European Cooperation in Science and Technology (COST) Action aims to accelerate the understanding of transcriptomics in CVD and further the translation of experimental data into usable applications to improve personalized medicine in this field by creating an interdisciplinary network. It aims to provide opportunities for collaboration between stakeholders from complementary backgrounds, allowing the functions of different RNAs and their interactions to be more rapidly deciphered in the cardiovascular context for translation into the clinic, thus fostering personalized medicine and meeting a current public health challenge. Thus, this Action will advance studies on cardiovascular transcriptomics, generate innovative projects, and consolidate the leadership of European research groups in the field.COST (European Cooperation in Science and Technology) is a funding organization for research and innovation networks (www.cost.eu).
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- Porro, M., et al.
(författare)
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The MiniSDD-Based 1-Mpixel Camera of the DSSC Project for the European XFEL
- 2021
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Ingår i: IEEE Transactions on Nuclear Science. - : Institute of Electrical and Electronics Engineers Inc.. - 0018-9499 .- 1558-1578. ; 68:6, s. 1334-1350
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Tidskriftsartikel (refereegranskat)abstract
- The first DSSC 1-Mpixel camera became available at the European XFEL (EuXFEL) in the Hamburg area in February 2019. It was successfully tested, installed, and commissioned at the Spectroscopy and Coherent Scattering Instrument. DSSC is a high-speed, large-area, 2-D imaging detector system optimized for photon science applications in the energy range between 0.25 and 6 keV. The camera is based on direct conversion Si sensors and is composed of 1024 × 1024 pixels of hexagonal shape with a side length of 136∼μm. The 256 application-specific integrated circuits (ASICs) provide full parallel readout, comprising analog filtering, digitization, and in-pixel data storage. In order to cope with the demanding X-ray pulse time structure of the EuXFEL, the DSSC provides a peak frame rate of 4.5 MHz. The first Mpixel camera is equipped with miniaturized silicon drift detector (MiniSDD) pixel arrays. The intrinsic response of the pixels and the linear readout limit the dynamic range but allow one to achieve noise values of about 60 electrons r.m.s. at the highest frame rate. The challenge of providing high-dynamic range (104 photons/pixel/pulse) and single-photon detection simultaneously requires a nonlinear system front end, which will be obtained with the DEPFET active pixel technology foreseen for the advanced version of the camera. This technology will provide lower noise and a nonlinear response at the sensor level. This article describes the architecture of the whole detector system together with the main experimental results achieved up to now. © 1963-2012 IEEE.
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- Burda, P, et al.
(författare)
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Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
- 2015
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Ingår i: Journal of Inherited Metabolic Disease. - : Wiley. - 0141-8955 .- 1573-2665. ; 38:5, s. 863-872
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Tidskriftsartikel (refereegranskat)abstract
- In the folate cycle MTHFD1, encoded by MTHFD1, is a trifunctional enzyme containing 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase activity. To date, only one patient with MTHFD1 deficiency, presenting with hyperhomocysteinemia, megaloblastic anaemia, hemolytic uremic syndrome (HUS) and severe combined immunodeficiency, has been identified (Watkins et al J Med Genet 48:590-2, 2011). We now describe four additional patients from two different families. The second patient presented with hyperhomocysteinemia, megaloblastic anaemia, HUS, microangiopathy and retinopathy; all except the retinopathy resolved after treatment with hydroxocobalamin, betaine and folinic acid. The third patient developed megaloblastic anaemia, infection, autoimmune disease and moderate liver fibrosis but not hyperhomocysteinemia, and was successfully treated with a regime that included and was eventually reduced to folic acid. The other two, elder siblings of the third patient, died at 9weeks of age with megaloblastic anaemia, infection and severe acidosis and had MTFHD1 deficiency diagnosed retrospectively. We identified a missense mutation (c.806C>T, p.Thr296Ile) and a splice site mutation (c.1674G>A) leading to exon skipping in the second patient, while the other three harboured a missense mutation (c.146C>T, p.Ser49Phe) and a premature stop mutation (c.673G>T, p.Glu225*), all of which were novel. Patient fibroblast studies revealed severely reduced methionine formation from [(14)C]-formate, which did not increase in cobalamin supplemented culture medium but was responsive to folic and folinic acid. These additional cases increase the clinical spectrum of this intriguing defect, provide in vitro evidence of disturbed methionine synthesis and substantiate the effectiveness of folic or folinic acid treatment.
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- Link, S., et al.
(författare)
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Introducing strong correlation effects into graphene by gadolinium intercalation
- 2019
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Ingår i: Physical Review B. - 2469-9950. ; 100:12
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Tidskriftsartikel (refereegranskat)abstract
- Exotic ordered ground states driven by electronic correlations are expected to be induced in monolayer graphene when doped to the Van Hove singularity. Such doping levels are reached by intercalating Gd in graphene on SiC(0001), resulting in a strong homogeneity and stability. The electronic spectrum now exhibits severe renormalizations. Flat bands develop which are driven by electronic correlations according to our theoretical studies. Due to strong electron-phonon coupling in this regime, polaron replica bands develop. Thus, interesting ordered ground states should be made accessible.
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