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1.
  • Morris, John A, et al. (author)
  • An atlas of genetic influences on osteoporosis in humans and mice.
  • 2019
  • In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 51, s. 258-266
  • Journal article (peer-reviewed)abstract
    • Osteoporosis is a common aging-related disease diagnosed primarily using bone mineral density (BMD). We assessed genetic determinants of BMD as estimated by heel quantitative ultrasound in 426,824 individuals, identifying 518 genome-wide significant loci (301 novel), explaining 20% of its variance. We identified 13 bone fracture loci, all associated with estimated BMD (eBMD), in ~1.2 million individuals. We then identified target genes enriched for genes known to influence bone density and strength (maximum odds ratio (OR)=58, P=1 × 10-75) from cell-specific features, including chromatin conformation and accessible chromatin sites. We next performed rapid-throughput skeletal phenotyping of 126 knockout mice with disruptions in predicted target genes and found an increased abnormal skeletal phenotype frequency compared to 526 unselected lines (P<0.0001). In-depth analysis of one gene, DAAM2, showed a disproportionate decrease in bone strength relative to mineralization. This genetic atlas provides evidence linking associated SNPs to causal genes, offers new insight into osteoporosis pathophysiology, and highlights opportunities for drug development.
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2.
  • Andersson, B-G, et al. (author)
  • Grain Alignment in the Circumstellar Shell of IRC+10 degrees 216
  • 2022
  • In: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 931:2, s. 80-
  • Journal article (peer-reviewed)abstract
    • Dust-induced polarization in the interstellar medium (ISM) is due to asymmetric grains aligned with an external reference direction, usually the magnetic field. For both the leading alignment theories, the alignment of the grain's angular momentum with one of its principal axes and the coupling with the magnetic field requires the grain to be paramagnetic. Of the two main components of interstellar dust, silicates are paramagnetic, while carbon dust is diamagnetic. Hence, carbon grains are not expected to align in the ISM. To probe the physics of carbon grain alignment, we have acquired Stratospheric Observatory for Infrared Astronomy/Higch-resolution Airborne Wideband Camera-plus far-infrared photometry and polarimetry of the carbon-rich circumstellar envelope (CSE) of the asymptotic giant branch star IRC+10 degrees 216. The dust in such CSEs are fully carbonaceous and thus provide unique laboratories for probing carbon grain alignment. We find a centrosymmetric, radial, polarization pattern, where the polarization fraction is well correlated with the dust temperature. Together with estimates of a low fractional polarization from optical polarization of background stars, we interpret these results to be due to a second-order, direct radiative external alignment of grains without internal alignment. Our results indicate that (pure) carbon dust does not contribute significantly to the observed ISM polarization, consistent with the nondetection of polarization in the 3.4 mu m feature due to aliphatic CH bonds on the grain surface.
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4.
  • Le Gouellec, Valentin J. M., et al. (author)
  • The Origin of Dust Polarization in the Orion Bar
  • 2023
  • In: Astrophysical Journal. - 1538-4357 .- 0004-637X. ; 951:2
  • Journal article (peer-reviewed)abstract
    • The linear polarization of thermal dust emission provides a powerful tool to probe interstellar and circumstellar magnetic fields, because aspherical grains tend to align themselves with magnetic field lines. While the Radiative Alignment Torque (RAT) mechanism provides a theoretical framework for this phenomenon, some aspects of this alignment mechanism still need to be quantitatively tested. One such aspect is the possibility that the reference alignment direction changes from the magnetic field ("B-RAT") to the radiation field k-vector ("k-RAT") in areas of strong radiation fields. We investigate this transition toward the Orion Bar PDR, using multiwavelength SOFIA HAWC+ dust polarization observations. The polarization angle maps show that the radiation field direction is on average not the preferred grain alignment axis. We constrain the grain sizes for which the transition from B-RAT to k-RAT occurs in the Orion Bar (grains & GE; 0.1 & mu;m toward the most irradiated locations), and explore the radiatively driven rotational disruption that may take place in the high-radiation environment of the Bar for large grains. While the grains susceptible to rotational disruption should be in suprathermal rotation and aligned with the magnetic field, k-RAT aligned grains would rotate at thermal velocities. We find that the grain size at which the alignment shifts from B-RAT to k-RAT corresponds to grains too large to survive the rotational disruption. Therefore, we expect a large fraction of grains to be aligned at suprathermal rotation with the magnetic field, and to potentially be subject to rotational disruption, depending on their tensile strength.
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