1. |
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2. |
- Niemi, MEK, et al.
(författare)
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- 2021
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swepub:Mat__t
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3. |
- Kanai, M, et al.
(författare)
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- 2023
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swepub:Mat__t
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4. |
- Namkoong, H, et al.
(författare)
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DOCK2 is involved in the host genetics and biology of severe COVID-19
- 2022
-
Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 609:7928, s. 754-
-
Tidskriftsartikel (refereegranskat)abstract
- Identifying the host genetic factors underlying severe COVID-19 is an emerging challenge1–5. Here we conducted a genome-wide association study (GWAS) involving 2,393 cases of COVID-19 in a cohort of Japanese individuals collected during the initial waves of the pandemic, with 3,289 unaffected controls. We identified a variant on chromosome 5 at 5q35 (rs60200309-A), close to the dedicator of cytokinesis 2 gene (DOCK2), which was associated with severe COVID-19 in patients less than 65 years of age. This risk allele was prevalent in East Asian individuals but rare in Europeans, highlighting the value of genome-wide association studies in non-European populations. RNA-sequencing analysis of 473 bulk peripheral blood samples identified decreased expression of DOCK2 associated with the risk allele in these younger patients. DOCK2 expression was suppressed in patients with severe cases of COVID-19. Single-cell RNA-sequencing analysis (n = 61 individuals) identified cell-type-specific downregulation of DOCK2 and a COVID-19-specific decreasing effect of the risk allele on DOCK2 expression in non-classical monocytes. Immunohistochemistry of lung specimens from patients with severe COVID-19 pneumonia showed suppressed DOCK2 expression. Moreover, inhibition of DOCK2 function with CPYPP increased the severity of pneumonia in a Syrian hamster model of SARS-CoV-2 infection, characterized by weight loss, lung oedema, enhanced viral loads, impaired macrophage recruitment and dysregulated type I interferon responses. We conclude that DOCK2 has an important role in the host immune response to SARS-CoV-2 infection and the development of severe COVID-19, and could be further explored as a potential biomarker and/or therapeutic target.
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5. |
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6. |
- Wang, QBS, et al.
(author)
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The whole blood transcriptional regulation landscape in 465 COVID-19 infected samples from Japan COVID-19 Task Force
- 2022
-
In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 13:1, s. 4830-
-
Journal article (peer-reviewed)abstract
- Coronavirus disease 2019 (COVID-19) is a recently-emerged infectious disease that has caused millions of deaths, where comprehensive understanding of disease mechanisms is still unestablished. In particular, studies of gene expression dynamics and regulation landscape in COVID-19 infected individuals are limited. Here, we report on a thorough analysis of whole blood RNA-seq data from 465 genotyped samples from the Japan COVID-19 Task Force, including 359 severe and 106 non-severe COVID-19 cases. We discover 1169 putative causal expression quantitative trait loci (eQTLs) including 34 possible colocalizations with biobank fine-mapping results of hematopoietic traits in a Japanese population, 1549 putative causal splice QTLs (sQTLs; e.g. two independent sQTLs at TOR1AIP1), as well as biologically interpretable trans-eQTL examples (e.g., REST and STING1), all fine-mapped at single variant resolution. We perform differential gene expression analysis to elucidate 198 genes with increased expression in severe COVID-19 cases and enriched for innate immune-related functions. Finally, we evaluate the limited but non-zero effect of COVID-19 phenotype on eQTL discovery, and highlight the presence of COVID-19 severity-interaction eQTLs (ieQTLs; e.g., CLEC4C and MYBL2). Our study provides a comprehensive catalog of whole blood regulatory variants in Japanese, as well as a reference for transcriptional landscapes in response to COVID-19 infection.
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7. |
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8. |
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9. |
- Adcox, K, et al.
(author)
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PHENIX detector overview
- 2003
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In: Nuclear Instruments & Methods in Physics Research. Section A: Accelerators, Spectrometers, Detectors, and Associated Equipment. - 0167-5087. ; 499:2-3, s. 469-479
-
Journal article (peer-reviewed)abstract
- The PHENIX detector is designed to perform a broad study of A-A, p-A, and p-p collisions to investigate nuclear matter under extreme conditions. A wide variety of probes, sensitive to all timescales, are used to study systematic variations with species and energy as well as to measure the spin structure of the nucleon. Designing for the needs of the heavy-ion and polarized-proton programs has produced a detector with unparalleled capabilities. PHENIX measures electron and muon pairs, photons, and hadrons with excellent energy and momentum resolution. The detector consists of a large number of subsystems that are discussed in other papers in this volume. The overall design parameters of the detector are presented. (C) 2002 Elsevier Science B.V. All rights reserved.
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10. |
- Sugita, S., et al.
(author)
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The geomorphology, color, and thermal properties of Ryugu: Implications for parent-body processes
- 2019
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In: Science. - : AAAS. - 0036-8075 .- 1095-9203. ; 364:6437
-
Journal article (peer-reviewed)abstract
- Asteroids fall to Earth in the form of meteorites, but these provide little information about their origins. The Japanese mission Hayabusa2 is designed to collect samples directly from the surface of an asteroid and return them to Earth for laboratory analysis. Three papers in this issue describe the Hayabusa2 team's study of the near-Earth carbonaceous asteroid 162173 Ryugu, at which the spacecraft arrived in June 2018 (see the Perspective by Wurm). Watanabeet al.measured the asteroid's mass, shape, and density, showing that it is a “rubble pile” of loose rocks, formed into a spinning-top shape during a prior period of rapid spin. They also identified suitable landing sites for sample collection. Kitazatoet al.used near-infrared spectroscopy to find ubiquitous hydrated minerals on the surface and compared Ryugu with known types of carbonaceous meteorite. Sugitaet al.describe Ryugu's geological features and surface colors and combined results from all three papers to constrain the asteroid's formation process. Ryugu probably formed by reaccumulation of rubble ejected by impact from a larger asteroid. These results provide necessary context to understand the samples collected by Hayabusa2, which are expected to arrive on Earth in December 2020.Science, this issue p.268, p.272, p.eaaw0422; see also p.230
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11. |
- Achberger, Christine, 1968, et al.
(author)
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State of the Climate in 2011
- 2012
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In: Bulletin of the American Meteorological Society. - 0003-0007. ; 93:7
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Journal article (peer-reviewed)abstract
- Large-scale climate patterns influenced temperature and weather patterns around the globe in 2011. In particular, a moderate-to-strong La Nina at the beginning of the year dissipated during boreal spring but reemerged during fall. The phenomenon contributed to historical droughts in East Africa, the southern United States, and northern Mexico, as well the wettest two-year period (2010-11) on record for Australia, particularly remarkable as this follows a decade-long dry period. Precipitation patterns in South America were also influenced by La Nina. Heavy rain in Rio de Janeiro in January triggered the country's worst floods and landslides in Brazil's history. The 2011 combined average temperature across global land and ocean surfaces was the coolest since 2008, but was also among the 15 warmest years on record and above the 1981-2010 average. The global sea surface temperature cooled by 0.1 degrees C from 2010 to 2011, associated with cooling influences of La Nina. Global integrals of upper ocean heat content for 2011 were higher than for all prior years, demonstrating the Earth's dominant role of the oceans in the Earth's energy budget. In the upper atmosphere, tropical stratospheric temperatures were anomalously warm, while polar temperatures were anomalously cold. This led to large springtime stratospheric ozone reductions in polar latitudes in both hemispheres. Ozone concentrations in the Arctic stratosphere during March were the lowest for that period since satellite records began in 1979. An extensive, deep, and persistent ozone hole over the Antarctic in September indicates that the recovery to pre-1980 conditions is proceeding very slowly. Atmospheric carbon dioxide concentrations increased by 2.10 ppm in 2011, and exceeded 390 ppm for the first time since instrumental records began. Other greenhouse gases also continued to rise in concentration and the combined effect now represents a 30% increase in radiative forcing over a 1990 baseline. Most ozone depleting substances continued to fall. The global net ocean carbon dioxide uptake for the 2010 transition period from El Nino to La Nina, the most recent period for which analyzed data are available, was estimated to be 1.30 Pg C yr(-1), almost 12% below the 29-year long-term average. Relative to the long-term trend, global sea level dropped noticeably in mid-2010 and reached a local minimum in 2011. The drop has been linked to the La Nina conditions that prevailed throughout much of 2010-11. Global sea level increased sharply during the second half of 2011. Global tropical cyclone activity during 2011 was well-below average, with a total of 74 storms compared with the 1981-2010 average of 89. Similar to 2010, the North Atlantic was the only basin that experienced above-normal activity. For the first year since the widespread introduction of the Dvorak intensity-estimation method in the 1980s, only three tropical cyclones reached Category 5 intensity level-all in the Northwest Pacific basin. The Arctic continued to warm at about twice the rate compared with lower latitudes. Below-normal summer snowfall, a decreasing trend in surface albedo, and above-average surface and upper air temperatures resulted in a continued pattern of extreme surface melting, and net snow and ice loss on the Greenland ice sheet. Warmer-than-normal temperatures over the Eurasian Arctic in spring resulted in a new record-low June snow cover extent and spring snow cover duration in this region. In the Canadian Arctic, the mass loss from glaciers and ice caps was the greatest since GRACE measurements began in 2002, continuing a negative trend that began in 1987. New record high temperatures occurred at 20 m below the land surface at all permafrost observatories on the North Slope of Alaska, where measurements began in the late 1970s. Arctic sea ice extent in September 2011 was the second-lowest on record, while the extent of old ice (four and five years) reached a new record minimum that was just 19% of normal. On the opposite pole, austral winter and spring temperatures were more than 3 degrees C above normal over much of the Antarctic continent. However, winter temperatures were below normal in the northern Antarctic Peninsula, which continued the downward trend there during the last 15 years. In summer, an all-time record high temperature of -12.3 degrees C was set at the South Pole station on 25 December, exceeding the previous record by more than a full degree. Antarctic sea ice extent anomalies increased steadily through much of the year, from briefly setting a record low in April, to well above average in December. The latter trend reflects the dispersive effects of low pressure on sea ice and the generally cool conditions around the Antarctic perimeter.
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12. |
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13. |
- Sakatani, N., et al.
(author)
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Anomalously porous boulders on (162173) Ryugu as primordial materials from its parent body
- 2021
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In: Nature Astronomy. - : Springer Nature. - 2397-3366. ; 5:8, s. 766-774
-
Journal article (peer-reviewed)abstract
- Planetesimals—the initial stage of the planetary formation process—are considered to be initially very porous aggregates of dusts1,2, and subsequent thermal and compaction processes reduce their porosity3. The Hayabusa2 spacecraft found that boulders on the surface of asteroid (162173) Ryugu have an average porosity of 30–50% (refs. 4,5,6), higher than meteorites but lower than cometary nuclei7, which are considered to be remnants of the original planetesimals8. Here, using high-resolution thermal and optical imaging of Ryugu’s surface, we discovered, on the floor of fresh small craters (<20 m in diameter), boulders with reflectance (~0.015) lower than the Ryugu average6 and porosity >70%, which is as high as in cometary bodies. The artificial crater formed by Hayabusa2’s impact experiment9 is similar to these craters in size but does not have such high-porosity boulders. Thus, we argue that the observed high porosity is intrinsic and not created by subsequent impact comminution and/or cracking. We propose that these boulders are the least processed material on Ryugu and represent remnants of porous planetesimals that did not undergo a high degree of heating and compaction3. Our multi-instrumental analysis suggests that fragments of the highly porous boulders are mixed within the surface regolith globally, implying that they might be captured within collected samples by touch-down operations10,11.
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14. |
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15. |
- Carninci, P, et al.
(author)
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The transcriptional landscape of the mammalian genome
- 2005
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In: Science (New York, N.Y.). - : American Association for the Advancement of Science (AAAS). - 1095-9203 .- 0036-8075. ; 309:5740, s. 1559-1563
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Journal article (peer-reviewed)abstract
- This study describes comprehensive polling of transcription start and termination sites and analysis of previously unidentified full-length complementary DNAs derived from the mouse genome. We identify the 5′ and 3′ boundaries of 181,047 transcripts with extensive variation in transcripts arising from alternative promoter usage, splicing, and polyadenylation. There are 16,247 new mouse protein-coding transcripts, including 5154 encoding previously unidentified proteins. Genomic mapping of the transcriptome reveals transcriptional forests, with overlapping transcription on both strands, separated by deserts in which few transcripts are observed. The data provide a comprehensive platform for the comparative analysis of mammalian transcriptional regulation in differentiation and development.
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16. |
- Klionsky, Daniel J., et al.
(author)
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Guidelines for the use and interpretation of assays for monitoring autophagy
- 2012
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In: Autophagy. - : Informa UK Limited. - 1554-8635 .- 1554-8627. ; 8:4, s. 445-544
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Research review (peer-reviewed)abstract
- In 2008 we published the first set of guidelines for standardizing research in autophagy. Since then, research on this topic has continued to accelerate, and many new scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Accordingly, it is important to update these guidelines for monitoring autophagy in different organisms. Various reviews have described the range of assays that have been used for this purpose. Nevertheless, there continues to be confusion regarding acceptable methods to measure autophagy, especially in multicellular eukaryotes. A key point that needs to be emphasized is that there is a difference between measurements that monitor the numbers or volume of autophagic elements (e.g., autophagosomes or autolysosomes) at any stage of the autophagic process vs. those that measure flux through the autophagy pathway (i.e., the complete process); thus, a block in macroautophagy that results in autophagosome accumulation needs to be differentiated from stimuli that result in increased autophagic activity, defined as increased autophagy induction coupled with increased delivery to, and degradation within, lysosomes (in most higher eukaryotes and some protists such as Dictyostelium) or the vacuole (in plants and fungi). In other words, it is especially important that investigators new to the field understand that the appearance of more autophagosomes does not necessarily equate with more autophagy. In fact, in many cases, autophagosomes accumulate because of a block in trafficking to lysosomes without a concomitant change in autophagosome biogenesis, whereas an increase in autolysosomes may reflect a reduction in degradative activity. Here, we present a set of guidelines for the selection and interpretation of methods for use by investigators who aim to examine macroautophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes. These guidelines are not meant to be a formulaic set of rules, because the appropriate assays depend in part on the question being asked and the system being used. In addition, we emphasize that no individual assay is guaranteed to be the most appropriate one in every situation, and we strongly recommend the use of multiple assays to monitor autophagy. In these guidelines, we consider these various methods of assessing autophagy and what information can, or cannot, be obtained from them. Finally, by discussing the merits and limits of particular autophagy assays, we hope to encourage technical innovation in the field.
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17. |
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18. |
-
- 2019
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Journal article (peer-reviewed)
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19. |
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20. |
- Elekes, Z., et al.
(author)
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Shape coexistence in 66Se
- 2023
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In: Physics Letters B. - : Elsevier. - 0370-2693 .- 1873-2445. ; 844
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Journal article (peer-reviewed)abstract
- The nuclear structure of 66Se, nucleus beyond the N=Z line on the proton-rich side of the valley of stability, was investigated by the neutron knock-out reaction 67Se(12C,X)66Se using a 12C target. The analysis of the singles spectrum of the γ-rays emitted during the de-excitation of the populated low-lying excited states revealed two previously detected (927(4) keV, 1460(32) keV) and three new (744(6) keV, 1210(17) keV, 1661(23) keV) transitions. The 744-keV, the 1210-keV, and the 1460-keV transitions were found to be in coincidence with the one at 927 keV. The spectrum coincident with the 927-keV transition showed a further possible transition at 299(35) keV, which was obscured by significant atomic background in the singles spectrum. This transition might correspond to a peak previously reported at 273(5) keV that could not be assigned to 66Se unambiguously. Based on a comparison of the experimental data to theoretical calculations, four new excited states are proposed which suggest that 66Se exhibits shape coexistence.
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24. |
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25. |
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27. |
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28. |
- Applegate, K. E., et al.
(author)
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Individual response of humans to ionising radiation : governing factors and importance for radiological protection
- 2020
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In: Radiation and Environmental Biophysics. - : Springer Science and Business Media LLC. - 0301-634X .- 1432-2099. ; 59:2, s. 185-209
-
Research review (peer-reviewed)abstract
- Tissue reactions and stochastic effects after exposure to ionising radiation are variable between individuals but the factors and mechanisms governing individual responses are not well understood. Individual responses can be measured at different levels of biological organization and using different endpoints following varying doses of radiation, including: cancers, non-cancer diseases and mortality in the whole organism; normal tissue reactions after exposures; and, cellular endpoints such as chromosomal damage and molecular alterations. There is no doubt that many factors influence the responses of people to radiation to different degrees. In addition to the obvious general factors of radiation quality, dose, dose rate and the tissue (sub)volume irradiated, recognized and potential determining factors include age, sex, life style (e.g., smoking, diet, possibly body mass index), environmental factors, genetics and epigenetics, stochastic distribution of cellular events, and systemic comorbidities such as diabetes or viral infections. Genetic factors are commonly thought to be a substantial contributor to individual response to radiation. Apart from a small number of rare monogenic diseases such as ataxia telangiectasia, the inheritance of an abnormally responsive phenotype among a population of healthy individuals does not follow a classical Mendelian inheritance pattern. Rather it is considered to be a multi-factorial, complex trait.
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29. |
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31. |
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32. |
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33. |
- Nakai, I, et al.
(author)
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Mechanism of CO oxidation reaction on O-covered Pd(111) surfaces studied with fast x-ray photoelectron spectroscopy: Change of reaction path accompanying phase transition of O domains
- 2006
-
In: Journal of Chemical Physics. - : AIP Publishing. - 0021-9606 .- 1089-7690. ; 124:22
-
Journal article (peer-reviewed)abstract
- We studied the mechanism of CO oxidation on O-precovered Pd(111) surfaces by means of fast x-ray photoelectron spectroscopy (XPS). The oxygen overlayer is compressed upon CO coadsorption from a p(2x2) structure into a (root 3x root 3)R30 degrees structure and then into a p(2x1) structure with increasing CO coverage. These three O phases exhibit distinctly different reactivities. (1) The p(2x2) phase does not react with CO unless the surface temperature is sufficiently high (< 290 K). (2) In the (root 3x root 3)R30 degrees phase, the reaction occurs exclusively at island peripheries. CO molecules in a high-density phase formed under CO exposure react with oxygen atoms, leading to quite a small apparent activation energy. (3) The reaction proceeds uniformly over the islands in the p(2x1) phase.
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34. |
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35. |
- Cho, Soohyun, et al.
(author)
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Observation of Dresselhaus type spin splitting of zinc blende structure semiconductors by circular dichroic photoemission study
- 2021
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In: Current Applied Physics. - : Elsevier BV. - 1567-1739. ; 30, s. 96-101
-
Journal article (peer-reviewed)abstract
- Material family of zinc blende structure semiconductors (ZBSSs) is important for novel technique such as spintronics. A study of the ZBSS spin-splitting structure in momentum space is essential when seeking to understand the exotic properties of the material. The Dresselhaus field predominates in the bulk, but the Rashba field plays important roles in states near the surface. Here, we used circular dichroism in angle-resolved photoemission spectroscopy (CD-ARPES) to explore the spin-splitting structure of bulk ZBSS in momentum space. The observed structure was well-explained by a Dresselhaus field attributable to the lack of inversion symmetry in ZBSS crystals. We show that CD-ARPES usefully reveals spin-splitting in momentum space. CD-ARPES combined with hard x-ray incident-beam would be useful to investigate the spin-splitting structures of the interface states in the ZBSS heterostructure.
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36. |
- Frassinetti, Lorenzo, et al.
(author)
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Improved particle confinement in transition from multiple-helicity to quasi-single-helicity regimes of a reversed-field pinch
- 2006
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In: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 97:17, s. 175001-
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Journal article (peer-reviewed)abstract
- The quasi-single-helicity (QSH) state of a reversed-field pinch (RFP) plasma is a regime in which the RFP configuration can be sustained by a dynamo produced mainly by a single tearing mode and in which a helical structure with well-defined magnetic flux surfaces arises. In this Letter, we show that spontaneous transitions to the QSH regime enhance the particle confinement. This improvement is originated by the simultaneous and cooperative action of the increase of the magnetic island and the reduction of the magnetic stochasticity.
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37. |
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38. |
- Frassinetti, Lorenzo, et al.
(author)
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Performance improvement conditions and their physical origin in the pulsed poloidal current drive regime of the reversed-field pinch device TPE-RX
- 2004
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In: Physics of Plasmas. - : AIP Publishing. - 1070-664X .- 1089-7674. ; 11:11, s. 5229-5238
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Journal article (peer-reviewed)abstract
- The application of the pulsed poloidal current drive (PPCD) technique in reversed-field pinch (RFP) devices leads to the improvement of the confinement properties of the plasma. In this article the conditions necessary to achieve high PPCD performance in the TPE-RX [Y. Yagi, S. Sekine, H. Sakakita , Fus. Eng. Des. 45, 409 (1999)] RFP device will be shown. One of the key parameters is the component of the electric field parallel to the magnetic field E-parallel to. The positive trend between E-parallel to and the PPCD performance can be explained in terms of reduction of magnetic fluctuations. It will also be shown that important roles are played by the triggering time of the PPCD pulses, the filling pressure of the deuterium gas, and the wall condition.
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39. |
- Frassinetti, Lorenzo, et al.
(author)
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Role of locked mode in the effectiveness of pulsed poloidal current drive regime in the reversed-field pinch
- 2005
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In: Physics of Plasmas. - : AIP Publishing. - 1070-664X .- 1089-7674. ; 12:10, s. 100703-
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Journal article (peer-reviewed)abstract
- The close relationship between the locked mode (LM) and pulsed poloidal current drive (PPCD) regime in a reversed-field pinch device is described. If the modes lock close to the shell gap then the LM is enhanced and there is a high probability that the PPCD will not improve plasma performance. The physical reason will be discussed. If the position of the locked mode is far from the shell gap then the PPCD is effective with a high probability. LM energy is reduced and the more the LM energy decreases, the better the plasma performance.
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40. |
- Frassinetti, Lorenzo, et al.
(author)
-
Toroidally localized soft x-ray expulsion at the termination of the improved confinement regime in the TPE-RX reversed-field pinch experiment
- 2006
-
In: Physics of Plasmas. - : AIP Publishing. - 1070-664X .- 1089-7674. ; 13:4, s. 042502-
-
Journal article (peer-reviewed)abstract
- The pulsed poloidal current drive technique reduces the magnetic chaos that characterizes reversed-field pinch configurations and produces a regime with an improved confinement. In this paper, we describe that, in TPE-RX [Y. Yagi , Fusion Eng. Des. 45, 409 (1999)], the termination phase of this regime is due to the increase of the slinky structure that creates a stochastic region and produces the expulsion of energy in a localized toroidal position. Before the plasma reaches the improved confinement regime, the slinky distorts the chain of m=0 islands on the reversal surface. During this regime, the magnetic activity and the phase locking decrease, the distortion in the island chain disappears, and the confinement increases. At the termination of this regime the magnetic activity markedly increases, as well as the phase locking, recreating the distortion in the m=0 magnetic island chain. As a consequence, at the position of the distortion the plasma region inside the reversal surface is characterized by a rapid energy loss, and outside the reversal surface a toroidally localized energy expulsion is induced.
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46. |
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47. |
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48. |
- Sumi, T, et al.
(author)
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Characteristics of implant-CAD/CAM abutment connections of two different internal connection systems
- 2012
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In: Journal of Oral Rehabilitation. - : John Wiley & Sons. - 1365-2842 .- 0305-182X. ; 39:5, s. 391-398
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Journal article (peer-reviewed)abstract
- Titanium or zirconium computer-aided design/computer-aided manufacturing abutments are now widely used for aesthetic implant treatments; however, information regarding microscopic structural differences that may influence the biological and mechanical outcomes of different implant systems is limited. Therefore, the characteristics of different connection systems were investigated. Optical microscopic observation and scanning electron microscopy showed different characteristics of two internal systems, namely the Astra Tech and the Replace Select system, and for different materials. The scanning electron microscopic observation showed for the Astra Tech that the implant-abutment interface seemed to be completely sealed for both titanium and zirconium abutments, both horizontally and sagittally; however, the first implant-abutment contact was below the fixture top, creating a microgap, and fixtures connected with titanium abutments showed significantly larger values (23·56μm±5·44 in width, and 168·78μm±30·39 in depth, P<0·001). For Replace Select, scanning electron microscopy in the sagittal direction showed that the sealing of titanium and zirconium abutments differed. The seal between the implant-titanium and implant-zirconium abutments seemed to be complete at the butt-joint interface; however, the displacement of the abutment in relation to the fixture in the lateral direction was evident for both abutments with no statistical differences (P>0·70), creating an inverted microgap. Thus, microscopy evaluation of two commonly used internal systems connected to titanium or zirconium abutments showed that the implant-abutment interface was perfectly sealed under no-loading conditions. However, an inverted microgap was seen in both systems, which may result in bacterial accumulation as well as alteration of stress distribution at the implant-abutment interface.
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49. |
- Tran, Lan-Anh T., et al.
(author)
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An appraisal ofUlva(Ulvophyceae, Chlorophyta) taxonomy
- 2022
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In: Journal of Applied Phycology. - : Springer Science and Business Media LLC. - 0921-8971 .- 1573-5176. ; 34, s. 2689-2703
-
Journal article (peer-reviewed)abstract
- The green seaweedUlvais important from ecological and economic perspectives, but the identification of species is often problematic. Here we assessed and discussed different perspectives to establish a stable taxonomic framework forUlva, which will benefit both ecological and applied research. We evaluated (1) the performance of commonly used DNA-barcode markers (ITS rDNA,rbcL, andtufA) using species delimitation methods (PTP and GMYC), (2) the usage of species names in the literature, and (3) the geographic coverage of genetic data to identify poorly sampled regions. Species delimitation employing thetufA gene was the most consistent across methods. Not surprisingly, DNA-based species delimitation was often in disagreement with traditional morphology-based species definitions. Biological species concepts, where tested, proved to be generally narrower than DNA-based species delimitation. Although the use of molecular markers has greatly improved our view ofUlvadiversity, the names associated with DNA sequences in public databases are often unreliable, complicating species identification. Recently, sequencing type materials has considerably reduced the gap between DNA sequence data and Linnaean names, but our knowledge onUlvadiversity remains inadequate, especially in tropical regions. Perspectives forUlvataxonomy include the consistent use of multiple DNA-barcode markers assisted by species delimitation methods, applications of genomic data, and crossing experiments. To arrive at a stable nomenclature, we outline the benefits and shortcomings of adhering to the rules and practices of the International Code of Nomenclature for algae, fungi, and plants, for example, by sequencing name-bearing types and discuss alternative approaches.
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50. |
- Yamamoto, T., et al.
(author)
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An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities
- 2014
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In: Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1434-5161 .- 1435-232X. ; 59:6, s. 300-306
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Journal article (peer-reviewed)abstract
- The majority of Xq22 duplications seen in patients with Pelizaeus-Merzbacher disease (PMD) include proteolipid protein 1 (PLP1), the gene responsible for PMD, and neighboring genes. Some cases result from larger duplications up to 7 Mb in size. In comparison, the deletions including PLP1 seen in PMD patients are small. In this study, we present the genetic and clinical information for five female patients with deletions involving the Xq22 region, and review the correlation between the genotype and phenotype. Three of the five patients show similar large deletions (>3 Mb) ranging from Xq22.1 to Xq22.3 and all manifest severe intellectual disability, hypotonia and behavioral abnormalities. The most striking similarity among them are the behavioral problems, including poor eye contact and sleep disturbance. We propose that this represents an emerging distinctive microdeletion syndrome encompassing PLP1 in female patients. The possible candidate region responsible for such distinctive features has been narrowed down to the neighboring region for PLP1, including the interleukin 1 receptor accessory protein-like 2 (IL1RAPL2) gene and the clustered brain expressed X-linked (BEX) genes. The gene(s) responsible for severe neurological features in the patients in this study would be located in the regions proximate to PLP1; thus, males with the deletions involving the gene(s) would be lethal, and finally, the sizes of the deletions in PMD patients would be smaller than those of the duplications.
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