| 1. |
- Bombarda, F., et al.
(author)
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Runaway electron beam control
- 2019
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In: Plasma Physics and Controlled Fusion. - : IOP Publishing. - 1361-6587 .- 0741-3335. ; 61:1
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Journal article (peer-reviewed)
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| 2. |
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| 3. |
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- 2019
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Journal article (peer-reviewed)
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| 4. |
- Concepcion Gil-Rodriguez, Maria, et al.
(author)
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De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes
- 2015
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In: Human Mutation. - : Wiley: 12 months. - 1059-7794 .- 1098-1004. ; 36:4, s. 454-462
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Journal article (peer-reviewed)abstract
- Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism, growth failure, intellectual disability, limb malformations, and multiple organ involvement. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), account for at least 70% of patients with CdLS or CdLS-like phenotypes. To date, only the clinical features from a single CdLS patient with SMC3 mutation has been published. Here, we report the efforts of an international research and clinical collaboration to provide clinical comparison of 16 patients with CdLS-like features caused by mutations in SMC3. Modeling of the mutation effects on protein structure suggests a dominant-negative effect on the multimeric cohesin complex. When compared with typical CdLS, many SMC3-associated phenotypes are also characterized by postnatal microcephaly but with a less distinctive craniofacial appearance, a milder prenatal growth retardation that worsens in childhood, few congenital heart defects, and an absence of limb deficiencies. While most mutations are unique, two unrelated affected individuals shared the same mutation but presented with different phenotypes. This work confirms that de novo SMC3 mutations account for approximate to 1%-2% of CdLS-like phenotypes.
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| 5. |
- Gaglione, R., et al.
(author)
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Insights into the anticancer properties of the first antimicrobial peptide from Archaea
- 2017
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In: Biochimica et Biophysica Acta - General Subjects. - : Elsevier BV. - 1872-8006 .- 0304-4165. ; 1861:9, s. 2155-2164
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Journal article (peer-reviewed)abstract
- Background: The peptide VLL-28, identified in the sequence of an archaeal protein, the transcription factor Stf76 from Sulfolobus islandicus, was previously identified and characterized as an antimicrobial peptide, possessing a broad-spectrum antibacterial activity. Methods: Through a combined approach of NMR and Circular Dichroism spectroscopy, Dynamic Light Scattering, confocal microscopy and cell viability assays, the interaction of VLL-28 with the membranes of both parental and malignant cell lines has been characterized and peptide mechanism of action has been studied. Results: It is here demonstrated that VLL-28 selectively exerts cytotoxic activity against murine and human tumor cells. By means of structural methodologies, VLL-28 interaction with the membranes has been proven and the binding residues have been identified. Confocal microscopy data show that VLL-28 is internalized only into tumor cells. Finally, it is shown that cell death is mainly caused by a time-dependent activation of apoptotic pathways. Conclusions: VLL-28, deriving from the archaeal kingdom, is here found to be endowed with selective cytotoxic activity towards both murine and human cancer cells and consequently can be classified as an ACP.
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| 6. |
- Gaupp-Berghausen, M, et al.
(author)
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Evaluation of different recruitment methods: Longitudinal, web-based, pan-european physical activity through sustainable transport approaches (PASTA) project
- 2019
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In: Journal of Medical Internet Research. - : JMIR Publications Inc.. - 1438-8871. ; 21:5, s. e11492-
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Journal article (peer-reviewed)abstract
- Background: Sufficient sample size and minimal sample bias are core requirements for empirical data analyses. Combining opportunistic recruitment with a Web-based survey and data-collection platform yields new benefits over traditional recruitment approaches. Objective: This paper aims to report the success of different recruitment methods and obtain data on participants' characteristics, participation behavior, recruitment rates, and representativeness of the sample. Methods: A longitudinal, Web-based survey was implemented as part of the European PASTA (Physical Activity through Sustainable Transport Approaches) project, between November 2014 and December 2016. During this period, participants were recruited from 7 European cities on a rolling basis. A standardized guide on recruitment strategy was developed for all cities, to reach a sufficient number of adult participants. To make use of the strengths and minimize weakness, a combination of different opportunistic recruitment methods was applied. In addition, the random sampling approach was applied in the city of Örebro. To reduce the attrition rate and improve real-time monitoring, the Web-based platform featured a participant's and a researchers' user interface and dashboard. Results: Overall, 10,691 participants were recruited; most people found out about the survey through their workplace or employer (2300/10691, 21.51%), outreach promotion (2219/10691, 20.76%), and social media (1859/10691, 17.39%). The average number of questionnaires filled in per participant varied significantly between the cities (P<.001), with the highest number in Zurich (11.0, SE 0.33) and the lowest in Örebro (4.8, SE 0.17). Collaboration with local organizations, the use of Facebook and mailing lists, and direct street recruitment were the most effective approaches in reaching a high share of participants.
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| 7. |
- Iranpour, Mahmoud, et al.
(author)
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Apoptosis, autophagy and unfolded proteinresponse pathways in Arbovirus replicationand pathogenesis
- 2016
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In: Expert Reviews in Molecular Medicine. - Cambridge University Press : Cambridge University Press (CUP). - 1462-3994. ; 18:e1, s. 21-
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Research review (peer-reviewed)abstract
- Arboviruses are pathogens that widely affect the health of people in different communities around the world. Recently, a few successful approaches toward production of effective vaccines against some of these pathogens have been developed, but treatment and prevention of the resulting diseases remain a major health and research concern. The arbovirus infection and replication processes are complex, and many factors are involved in their regulation. Apoptosis, autophagy and the unfolded protein response (UPR) are three mechanisms that are involved in pathogenesis of many viruses. In this review, we focus on the importance of these pathways in the arbovirus replication and infection processes. We provide a brief introduction on how apoptosis, autophagy and the UPR are initiated and regulated, and then discuss the involvement of these pathways in regulation of arbovirus pathogenesis.
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| 8. |
- Solano, Emilia R., et al.
(author)
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Axisymmetric oscillations at L-H transitions in JET : M-mode
- 2017
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In: Nuclear Fusion. - : IOP Publishing. - 0029-5515 .- 1741-4326. ; 57:2
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Journal article (peer-reviewed)abstract
- L to H transition studies at JET have revealed an n = 0, m = 1 magnetic oscillation starting immediately at the L to H transition (called M-mode for brevity). While the magnetic oscillation is present a weak ELM-less H-mode regime is obtained, with a clear increase of density and a weak electron temperature pedestal. It is an intermediate state between L and H-mode. In ICRH heated plasmas or low density NBI plasmas the magnetic mode and the pedestal can remain steady (with small oscillations) for the duration of the heating phase, of order 10 s or more. The axisymmetric magnetic oscillation has period similar to 0.5-2 ms, and poloidal mode number m = 1: it looks like a pedestal localised up/down oscillation, although it is clearly a natural oscillation of the plasma, not driven by the position control system. Electron cyclotron emission, interferometry, reflectometry and fast Li beam measurements locate the mode in the pedestal region. Da, fast infrared camera and Langmuir probe measurements show that the mode modulates heat and particle fluxes to the target. The mode frequency appears to scale with the poloidal Alfven velocity, and not with sound speed (i.e. it is not a geodesic acoustic mode). A heuristic model is proposed for the frequency scaling of the mode. We discuss the relationship between the M-mode and other related observations near the L-H transition.
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| 9. |
- Annese, Emilia, et al.
(author)
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Nonvortical Rashba Spin Structure on a Surface with C1h Symmetry
- 2016
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In: Physical Review Letters. - 0031-9007. ; 117:1
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Journal article (peer-reviewed)abstract
- A totally anisotropic peculiar Rashba-Bychkov (RB) splitting of electronic bands was found on the Tl/Si(110)-(1×1) surface with C1h symmetry by angle- and spin-resolved photoelectron spectroscopy and first-principles theoretical calculation. The constant energy contour of the upper branch of the RB split band has a warped elliptical shape centered at a k point located between Γ and the edge of the surface Brillouin zone, i.e., at a point without time-reversal symmetry. The spin-polarization vector of this state is in-plane and points almost the same direction along the whole elliptic contour. This novel nonvortical RB spin structure is confirmed as a general phenomenon originating from the C1h symmetry of the surface.
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| 10. |
- Arshamian, Artin, et al.
(author)
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A mammalian blood odor component serves as an approach-avoidance cue across phylum border - from flies to humans
- 2017
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In: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 7
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Journal article (peer-reviewed)abstract
- Chemosignals are used by predators to localize prey and by prey to avoid predators. These cues vary between species, but the odor of blood seems to be an exception and suggests the presence of an evolutionarily conserved chemosensory cue within the blood odor mixture. A blood odor component, E2D, has been shown to trigger approach responses identical to those triggered by the full blood odor in mammalian carnivores and as such, is a key candidate as a food/alarm cue in blood. Using a multidisciplinary approach, we demonstrate that E2D holds the dual function of affecting both approach and avoidance behavior in a predator-prey predicted manner. E2D evokes approach responses in two taxonomically distant blood-seeking predators, Stable fly and Wolf, while evoking avoidance responses in the prey species Mouse. We extend this by demonstrating that this chemical cue is preserved in humans as well; E2D induces postural avoidance, increases physiological arousal, and enhances visual perception of affective stimuli. This is the first demonstration of a single chemical cue with the dual function of guiding both approach and avoidance in a predator-prey predicted manner across taxonomically distant species, as well as the first known chemosignal that affects both human and non-human animals alike.
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