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- Bryois, J., et al.
(author)
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Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease
- 2020
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 52:5, s. 482-493
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Journal article (peer-reviewed)abstract
- Genome-wide association studies have discovered hundreds of loci associated with complex brain disorders, but it remains unclear in which cell types these loci are active. Here we integrate genome-wide association study results with single-cell transcriptomic data from the entire mouse nervous system to systematically identify cell types underlying brain complex traits. We show that psychiatric disorders are predominantly associated with projecting excitatory and inhibitory neurons. Neurological diseases were associated with different cell types, which is consistent with other lines of evidence. Notably, Parkinson’s disease was genetically associated not only with cholinergic and monoaminergic neurons (which include dopaminergic neurons) but also with enteric neurons and oligodendrocytes. Using post-mortem brain transcriptomic data, we confirmed alterations in these cells, even at the earliest stages of disease progression. Our study provides an important framework for understanding the cellular basis of complex brain maladies, and reveals an unexpected role of oligodendrocytes in Parkinson’s disease. © 2020, The Author(s), under exclusive licence to Springer Nature America, Inc.
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- Watson, H. J., et al.
(author)
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Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa
- 2019
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 51:8
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Journal article (peer-reviewed)abstract
- Characterized primarily by a low body-mass index, anorexia nervosa is a complex and serious illness(1), affecting 0.9-4% of women and 0.3% of men(2-4), with twin-based heritability estimates of 50-60%(5). Mortality rates are higher than those in other psychiatric disorders(6), and outcomes are unacceptably poor(7). Here we combine data from the Anorexia Nervosa Genetics Initiative (ANGI)(8,9) and the Eating Disorders Working Group of the Psychiatric Genomics Consortium (PGC-ED) and conduct a genome-wide association study of 16,992 cases of anorexia nervosa and 55,525 controls, identifying eight significant loci. The genetic architecture of anorexia nervosa mirrors its clinical presentation, showing significant genetic correlations with psychiatric disorders, physical activity, and metabolic (including glycemic), lipid and anthropometric traits, independent of the effects of common variants associated with body-mass index. These results further encourage a reconceptualization of anorexia nervosa as a metabo-psychiatric disorder. Elucidating the metabolic component is a critical direction for future research, and paying attention to both psychiatric and metabolic components may be key to improving outcomes.
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- Morales, J. C., et al.
(author)
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A giant exoplanet orbiting a very-low-mass star challenges planet formation models
- 2019
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In: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 365:6460, s. 1441-1445
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Journal article (peer-reviewed)abstract
- Surveys have shown that super-Earth and Neptune-mass exoplanets are more frequent than gas giants around low-mass stars, as predicted by the core accretion theory of planet formation. We report the discovery of a giant planet around the very-low-mass star GJ 3512, as determined by optical and near-infrared radial-velocity observations. The planet has a minimum mass of 0.46 Jupiter masses, very high for such a small host star, and an eccentric 204-day orbit. Dynamical models show that the high eccentricity is most likely due to planet-planet interactions. We use simulations to demonstrate that the GJ 3512 planetary system challenges generally accepted formation theories, and that it puts constraints on the planet accretion and migration rates. Disk instabilities may be more efficient in forming planets than previously thought.
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- Liu, Daizhong, et al.
(author)
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PHANGS–JWST First Results : Stellar-feedback-driven Excitation and Dissociation of Molecular Gas in the Starburst Ring of NGC 1365?
- 2023
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In: Astrophysical Journal Letters. - : American Astronomical Society. - 2041-8205 .- 2041-8213. ; 944:2
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Journal article (peer-reviewed)abstract
- We compare embedded young massive star clusters (YMCs) to (sub-)millimeter line observations tracing the excitation and dissociation of molecular gas in the starburst ring of NGC 1365. This galaxy hosts one of the strongest nuclear starbursts and richest populations of YMCs within 20 Mpc. Here we combine near-/mid-IR PHANGS–JWST imaging with new Atacama Large Millimeter/submillimeter Array multi-J CO (1–0, 2–1 and 4–3) and [C ı] (1–0) mapping, which we use to trace CO excitation via R42 = ICO(4−3)/ICO(2−1) and R21 = ICO(2−1)/ICO(1−0) and dissociation via RCICO = I[CI](1−0)/ICO(2−1) at 330 pc resolution. We find that the gas flowing into the starburst ring from northeast to southwest appears strongly affected by stellar feedback, showing decreased excitation (lower R42) and increased signatures of dissociation (higher RCICO) in the downstream regions. There, radiative-transfer modeling suggests that the molecular gas density decreases and temperature and [CI/CO] abundance ratio increase. We compare R42 and RCICO with local conditions across the regions and find that both correlate with near-IR 2 μm emission tracing the YMCs and with both polycyclic aromatic hydrocarbon (11.3 μm) and dust continuum (21 μm) emission. In general, RCICO exhibits ∼0.1 dex tighter correlations than R42, suggesting C ı to be a more sensitive tracer of changing physical conditions in the NGC 1365 starburst than CO (4–3). Our results are consistent with a scenario where gas flows into the two arm regions along the bar, becomes condensed/shocked, forms YMCs, and then these YMCs heat and dissociate the gas.
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- Aouadi, S, et al.
(author)
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ICMCTF 2014 : Preface
- 2014
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In: Thin Solid Films. - : Elsevier. - 0040-6090 .- 1879-2731. ; 572, s. 1-1
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Journal article (peer-reviewed)abstract
- The 41st International Conference on Metallurgical Coatings andThin Films (ICMCTF), sponsored by the Advanced Surface EngineeringDivision (ASED) of the American Vacuum Society (AVS), was heldfrom April 28 to May 2, 2014 in San Diego, California, USA.The week's technical program consisted of 37 technical sessions,which were organized into 13 symposia. The conference opened witha Plenary Lecture by Prof. Sybrand van der Zwaag, Materials Scienceand Engineering at the faculty of Aerospace Engineering at the TUDelft, The Netherlands, on “Self-healing Materials: an Alternative Approachto Create More Durable/Reliable Materials and Products”. TheExhibition Keynote Lecture was presented by Prof. Timothy P. Weihs,Department of Materials Science and Engineering at the Johns HopkinsUniversity, Baltimore, MD, USA, on “Driving Commercial Applicationsand Exploring Scientific Questions with Reactive Multilayer Foils”.During the conference week, a well subscribed poster session wasattended by a large and appreciative attendee audience. An expansivelarge two-day interactive industrial exhibition, with more than 50booths,was held inwhich companies displayed theirmost recent developmentsin vacuumscience and plasma-based deposition technologies.In addition to the technical symposia sessions, there were threefocused topical sessions, and six specialized short courses offered.Professor Jindrich Musil from the faculty of Applied Sciences atthe University of Bohemia, Plzeň, Czech Republic, was the recipientof the 2014 ASED R.F. Bunshah Annual Award; he presented the HonoraryLecture, “Advanced Hard Nanocomposite Coatings with UniqueProperties”. The award recognizes and honors Prof. Musil's seminalcontributions to the development of advanced nanocomposite coatingswith enhanced hardness, oxidation resistance, toughness, and crackresistance.The ASED Annual ICMCTF Graduate Student Awards werepresented to Shiyu Liu (Gold Medal), University of Cambridge, UK;Samantha K. Lawrence (Silver Medal), Purdue University, WestLafayette, IN, USA; and Trevor Hardcastle (Bronze Medal), Universityof Leeds, UK.The electronic submission and handling of manuscripts via theElsevier Editorial System (EES), including the selection of reviewersand evaluation ofmanuscripts,were identical to the procedures appliedto manuscripts submitted as regular contributions for publication ininternational scientific journals. Following the tradition practiced since1987, the accepted manuscripts are published in the archival journalsSurface and Coatings Technology and Thin Solid Films. ICMCTF 2014proceedings are open-access to the participants for one year via theElsevier journals' web sites.The organization of this conference and the preparation of proceedingsvolumes would have been impossible without the tremendouseffort and dedication of many individuals, including the General Chair,Yip-Wah Chung, Northwestern University, USA, and the ProgramChair, Claus Rebholz, the University of Cyprus, the team of symposiaand session chairs that made possible the realization of an exciting technicalprogram. We especially thank all the authors and presenters fortheir contributions; we also thank the hundreds of reviewers for theirtimely submission of high quality reports. To our sponsors,we acknowledge,appreciate, and thank these companies for their most generousand continuing support.The 42nd International Conference on Metallurgical Coatings andThin Films (ICMCTF 2015) will be held in San Diego, California, April20–24, 2015, with Claus Rebholz, University of Cyprus, as the GeneralChair and Suneel Kodambaka, the University of California at Los Angeles, as the Program Chair.
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7. |
- Lewin, Erik, et al.
(author)
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On the origin of a third spectral component of C1s XPS-spectra for nc-TiC/a-C nanocomposite thin films
- 2008
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In: Surface & Coatings Technology. - : Elsevier BV. - 0257-8972 .- 1879-3347. ; 202:15, s. 3563-3570
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Journal article (peer-reviewed)abstract
- X-ray photoelectron spectroscopy (XPS) spectra of sputter-etched nc-TiC/a-C nanocomposite thin films published in literature show an extra feature of unknown origin in the C1s region. This feature is situated between the contributions of carbide and the carbon matrix. We have used high kinetic energy XPS (HIKE-XPS) on magnetron-sputtered nc-TiC/a-C thin films to show that this feature represents a third chemical environment in the nanocomposites, besides the carbide and the amorphous carbon. Our results show that component is present in as-deposited samples, and that the intensity is strongly enhanced by Ar+-ion etching. This third chemical environment may be due to interface or disorder effects. The implications of these observations on the XPS analysis of nanocomposites are discussed in the light of overlap problems for ternary carbon based systems.
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