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Sökning: WFRF:(Ruck A)

  • Resultat 11-20 av 141
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  • Noh, Hyun Ji, et al. (författare)
  • Integrating evolutionary and regulatory information with multispecies approach implicates genes and pathways in obsessive-compulsive disorder
  • 2017
  • Ingår i: Nature Communications. - : NATURE PUBLISHING GROUP. - 2041-1723. ; 8
  • Tidskriftsartikel (refereegranskat)abstract
    • Obsessive-compulsive disorder is a severe psychiatric disorder linked to abnormalities in glutamate signaling and the cortico-striatal circuit. We sequenced coding and regulatory elements for 608 genes potentially involved in obsessive-compulsive disorder in human, dog, and mouse. Using a new method that prioritizes likely functional variants, we compared 592 cases to 560 controls and found four strongly associated genes, validated in a larger cohort. NRXN1 and HTR2A are enriched for coding variants altering postsynaptic protein-binding domains. CTTNBP2 (synapse maintenance) and REEP3 (vesicle trafficking) are enriched for regulatory variants, of which at least six (35%) alter transcription factor-DNA binding in neuroblastoma cells. NRXN1 achieves genome-wide significance (p = 6.37 x 10(-11)) when we include 33,370 population-matched controls. Our findings suggest synaptic adhesion as a key component in compulsive behaviors, and show that targeted sequencing plus functional annotation can identify potentially causative variants, even when genomic data are limited.
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  • Granville, S, et al. (författare)
  • Optical conductivity and x-ray absorption and emission study of the band structure of MnN films
  • 2005
  • Ingår i: Physical Review B. Condensed Matter and Materials Physics. - 1098-0121 .- 1550-235X. ; 72:20, s. 205127-
  • Tidskriftsartikel (refereegranskat)abstract
    • The band structure of MnN films prepared by ion assisted deposition has been investigated by optical conductivity and x-ray absorption and emission spectroscopies. X-ray diffraction and extended x-ray absorption fine structure show the films to be nanocrystalline but phase pure and exhibiting the known antiferromagnetic distorted rocksalt phase. X-ray emission spectroscopy of the N K-edge and x-ray absorption near edge spectroscopy of both the N K- and Mn L-edges are used to probe the occupied and empty densities of states, which compare well with the N(2p) and Mn(3d) partial densities of states calculated using the linearized muffin-tin orbital band structure method. A similar comparison is made between the measured optical conductivity and the calculated contribution from interband transitions. It is possible to associate the main features in the measured spectrum with corresponding ones in the calculated optical function. The major differences between calculated and measured spectra can be understood on the basis of a limited electron mean-free-path in these nanocrystalline films, which broadens the features in the joint density of states and relaxes the momentum conservation requirement. The calculated optical functions are analyzed in detail in terms of their dominant band-to-band contributions and in addition the polarization dependence is predicted. Temperature dependent conductivity measurements are also reported and show a clear metallic behavior and a weak Kondo-like low temperature anomaly.
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  • Isaeva, Anna A., et al. (författare)
  • New metal-rich mixed chalcogenides with intergrowth structures : Ni8.21Ge2S2 and Ni8.45Ge2Se2
  • 2009
  • Ingår i: Solid State Sciences. - : Elsevier BV. - 1293-2558 .- 1873-3085. ; 11:6, s. 1071-1076
  • Tidskriftsartikel (refereegranskat)abstract
    • New metal-rich mixed nickel germanium chalcogenides, Ni8.21(1)Ge2S2 and Ni8.45(1)Ge2Se2, were synthesized by a high-temperature ceramic technique. Ni8.21Ge2S2 decomposes incongruently at 798(5) degrees C, while Ni8.45Ge2Se2 is stable only between approximately 600(5) degrees C and 813(5) degrees C. Single crystals were grown from a molten flux and by a recrystallization of presynthesized charge. The X-ray diffraction study revealed that Ni8.21Ge2S2 and Ni8.45Ge2S2 are isostructural and crystallize in the tetragonal system (space group 14/mmm, Z = 2) with a = 3.578(1) angstrom, c = 24.687(5) angstrom, and a = 3.601 (1) angstrom, c = 25.427(6) angstrom, respectively. Their crystal structures comprise heterometallic (2)(infinity) [Ni6Ge2] slabs and are closely related to the Ni8.54Ga2Se2 and Ni8.93Sn2S2 structure types. The geometrical changes of structural units upon p-element substitution in all known Ni(10-delta)E(2)Q(2) (E = element of group 13 or 14; Q = chalcogen) compounds are discussed. The relation to the intergrowth structure of Ni5.46GeSe2 is analyzed.
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