| 1. |
- Noh, Hyun Ji, et al.
(författare)
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Integrating evolutionary and regulatory information with multispecies approach implicates genes and pathways in obsessive-compulsive disorder
- 2017
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Ingår i: Nature Communications. - : NATURE PUBLISHING GROUP. - 2041-1723. ; 8
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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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| 2. |
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| 3. |
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| 4. |
- Isaeva, Anna A., et al.
(författare)
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New metal-rich mixed chalcogenides with intergrowth structures : Ni8.21Ge2S2 and Ni8.45Ge2Se2
- 2009
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Ingår i: Solid State Sciences. - : Elsevier BV. - 1293-2558 .- 1873-3085. ; 11:6, s. 1071-1076
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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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| 5. |
- Kim, Won Keun, et al.
(författare)
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Outcomes and performance of the ACURATE neo2 transcatheter heart valve in clinical practice : one-yearresults of the ACURATE neo2 PMCF Study
- 2024
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Ingår i: EuroIntervention : journal of EuroPCR in collaboration with the Working Group on Interventional Cardiology of the European Society of Cardiology. - 1969-6213. ; 20:1, s. 85-94
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Transcatheter aortic valve implantation is an effective treatment for patients with aortic stenosis; however, complications related to paravalvular leakage (PVL) persist, including increased risk of mortality, cardiovascular mortality, and rehospitalisation. AIMS: We sought to evaluate the clinical outcomes and valve performance at 1 year in patients with severe aortic stenosis treated with the ACURATE neo2 valve in a post-market clinical setting. METHODS: Valve Academic Research Consortium-2 safety events were assessed up to 1 year. Independent core laboratories evaluated echocardiographic measures of valve performance and hypoattenuated leaflet thickening (HALT; as measured by four-dimensional computed tomography). RESULTS: The study enrolled 250 patients (64% female; mean age: 81 years; baseline Society of Thoracic Surgeons risk score: 2.9±2.0%); 246 patients were implanted with ACURATE neo2. All-cause mortality was 0.8% at 30 days and 5.1% at 1 year. The 1-year rates for stroke and disabling stroke were 3.0% and 1.3%, respectively. Overall, HALT of >50% leaflet involvement of at least one leaflet was present in 9% of patients at 30 days and in 12% of patients at 1 year. No association was observed between the presence of HALT and 1-year clinical or haemodynamic outcomes. Early haemodynamic improvements were maintained up to 1 year (mean aortic valve gradient: 47.6±14.5 mmHg at baseline, 7.6±3.2 mmHg at 1 year; mean aortic valve area: 0.7±0.2 cm2 at baseline, 1.7±0.4 cm2 at 1 year). At 1 year, 99% of patients had mild or no/trace PVL (<1% had moderate PVL; no patient had severe PVL). CONCLUSIONS: The study outcomes confirm favourable performance and safety up to 1 year in patients treated with ACURATE neo2 in routine clinical practice. (ClinicalTrials.gov: NCT04655248).
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| 6. |
- Lindsjö, Martin, 1975-
(författare)
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On the nature of main-group polycations : an odyssey
- 2005
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Compounds containing main-group clusters, with focus on bismuth polycations, have been synthesized and characterized using X-ray diffraction and spectroscopic methods. Six new compounds have been isolated from synthesis in GaX3-arene media; Bi8[GaCl4]2, Bi8 [GaBr4]2, Sb8[GaCl4]2, Sb8[GaBr4]2, Te4[Ga2Cl7]2 and Te4[Ga2Br7]2. Sb2+ 8 is the first homopolyatomic antimony cation to be isolated. The cation forms a square antiprism, in correlation with Wade’s rules, and displays a significant difference in length between the inter-square and intra-square Sb–Sb distances. The geometries of the Sb2+ 8 cations in Sb8[GaCl4]2 and Sb8[GaBr4]2 are in excellent agreement; the average intra-square and intersquare Sb–Sb distances are 2.87 Å and 2.97 Å, respectively. A very strong Raman band attributed to Sb2+8 is found at 180 cm-1. The Bi2+8 (square antiprismatic) and Te2+4 (squareplanar) polycations are known from earlier compounds. The Bi–Bi distances in Bi8[GaCl4]2 (3.07–3.12 Å) are in general agreement with previous structures, while the Bi–Bi distances of Bi8[GaBr4]2 (2.92–3.18 Å) display a wider distrubution than previously observed. The Te–Te distances of the cations of Te4[Ga2Cl7]2 and Te4[Ga2Br7]2 are 2.66 and 2.67 Å, respectively. Quantum chemical calculations on bismuth polycations show that all species predicted byWade’s rules are local minima on a potential energy surface. The cation–anion interactions have been considered for salts containing bismuth polycations and it has been confirmed that such interactions have a major influence on the polycation stability. The new compound Bi16I4 has been isolated from molten Bil3. The structure consists of polymerized Bi16I4 molecules forming infinite ribbons and is very similar to the structure of the known metal-rich bismuth iodides, Bi14I4 and Bi18I4. DFT calculations predict all three compounds to be metallic conductors, while Bi4I4 is a semiconductor.
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| 7. |
- Tengå, Andreas, 1976-
(författare)
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Thermoelectric Properties of Antimony Based Networks
- 2010
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- With the retreating sources of carbon based fuels, thermoelectric materials can play an important role in the future of environmentally friendly power generators. Sb based framework have in some cases shown some promising properties as thermoelectric materials. The physical properties may be modified with doping or incorporation of new elements. Zn4Sb3 and Cd4Sb3 are structurally related with a Sb-based network and Zn/Cd occupying the rest of the positions. Both structures undergo order-disorder α–β transition of the Zn/Cd positions, at 254 K and ~355 K respectively. The previously ordered interstitial atoms become distributed in the structure and the two high temperature phases are isostructural (R-3c). Cd4Sb3 was synthesized from melt-quench, flux synthesis with Sn, Bi and In. The syntheses made with In resulted in interstitial-free β-Cd4Sb3 with the composition Cd11.7In1.5Sb10. This compound exhibits no phase transitions until decomposition. ZnSnSb2 and InSb both exhibit the cubic sphalerite structure. ZnSnSb2 is metallic and InSb narrow band-gap semiconductor. Attempts were made to fine-tune the electrical properties by probing the mutual solid solubility range. The formula [ZnSnSb2]x[2(InSb)]1-xSn4 and 04Sb3 by In a novel metastable compound with the composition Zn9Sb6In2 was found. Another novel phase was discovered with the composition Zn5Sb4In2-δ (δ=0.15). The two phases have the same Sb-framework with a CuAl2 structure. Zn and In arrangements fill the square antiprisms formed by the stacking of 32434 nets in anti configuration. The filling of the antiprisms in the two phases are different, in Zn9Sb6In2 the antiprisms have two filling arrangements, an In or Zn3 triangles. In Zn5Sb4In2-δ the antiprisms are filled with an In and a Zn that occupies a split position to form a hetero-atomic dimers.
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| 8. |
- Wahl, Bernhard, et al.
(författare)
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A One-Dimensional Metal Embedded in Salt Matrices : Synthesis, Modulated Crystal Structures, Electrical Conductivity, and Chemical Bonding of (1)(infinity) PdBi6 (Bi,Sn)(1-delta)Br5-delta
- 2009
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Ingår i: Zeitschrift für Anorganische und Allgemeines Chemie. - : Wiley. - 0044-2313 .- 1521-3749. ; 635:12, s. 1979-1985
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Tidskriftsartikel (refereegranskat)abstract
- The metal-rich compounds (1)(infinity)[PdBi6][(Bi,Sn)(1-delta)Br5-delta,] with delta(1) = 2/13, delta(1)' = 5/26, or delta(2) = delta(2)' = 2/12 were synthesized from Bi2Pd, BiBr3, and Sn at 300 degrees C. The crystal structures contain intermetallic rods (1)(infinity)[Pd@Bi2/1Bi8/2](2.5+) embedded in salt-like matrices, which consist of groups of bromido-bismuthate(III)-stannate(II) octahedra [(Bi,Sn)(n)Br4n+2](m-) (n = 2, 3) and isolated Br- ions. Metrical incompatibilities of the two subsystems in the crystalline metal-salt hybrid result in non-stoichiometry of the salt pan associated with complex superstructures. The average structure is described in the orthorhombic space group Pmmm with a approximate to 408 pm, b approximate to 2263 pm, c approximate to 849 pm. It feigns statistical distribution of vacancies and orientational disorder of the concatenated octahedra. By choosing the modulation vectors q(i) = 2/ta* + 1/2b* + 1/2c* with t(1) = 13 or t(2) = 12, the additional weak reflections of the diffraction patterns are indexed. Ordered structure models are achieved in the [3+1]-dimensional superspace group Pmmm(alpha 1/21/2)000. Metallic conductivity along [100], i.e. the direction of the (1)(infinity)[Pd@Bi2/1Bi8/2](2.5+) rods, was determined for a single-crystal. One-dimensional band structure calculations reveal Bi p-bands crossing the Fermi level for formula charges higher than 2+. The electron localization indicator (ELI) indicates two-center Bi-Bi bonds as well as multi-center bonds inside the metallic part, whereas the bismuth l one-pairs point towards the non-conducting part of the structure.
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| 9. |
- Wahl, Bernhard, et al.
(författare)
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Nobel-Metal Centered Polycations Au@Bi-10 (5+) or Pd@Bi-10 (4+) Embedded in Halogenido-Bismuthate(III)-Stannate(II) Frameworks
- 2009
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Ingår i: Zeitschrift für Anorganische und Allgemeines Chemie. - : Wiley. - 0044-2313 .- 1521-3749. ; 635:4-5, s. 743-752
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Tidskriftsartikel (refereegranskat)abstract
- The metal-rich halogenides AuBi14 delta Sn2+delta X21-delta (delta approximate to 0.4) and PdBi15 delta Sn2+delta X21-delta (delta approximate to 0.6) with X = Cl. Br were crystallized from melts of the metals and BiX3. In the rhombohedral structures (space group R (3) over bar: a approximate to 1050 pm: alpha approximate to 94 degrees), noble-metal centered pentagonal antiprisms [Au@Bi-19](5+) resp. [Pd@Bi-19](4+) are embedded in halogenidometallate frameworks (3)(x)[Bi-4 delta Sn2+delta X21-delta](5) resp. (3)[Bi-4 delta Sn2+delta X21-delta](4). Mixed Bi-III/Sn-II site occupation allows the framework to adopt different charges. Further exchange of (BiX3)-X-III against (SnX2)-X-II results in vacancies (delta) on the position of an isolated halide ion. In quantum chemical calculations the naked metal-clusters are found to be stable in D-5d symmetry with interatomic distances close to the observed ones. The significance of interactions between the Wade-type host cluster Bi-10(4+) and the closed-subshell guest atoms Au+ or Pd-0 is reflected in the molecular orbital diagram, the population analyses and the ELI-D.
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| 10. |
- Wahl, Bernhard, et al.
(författare)
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The molecular cluster Bi10Au2 (SbBi3Br9)(2)
- 2008
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Ingår i: Angewandte Chemie International Edition. - : Wiley. - 1433-7851 .- 1521-3773. ; 47:21, s. 3932-3935
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Tidskriftsartikel (refereegranskat)
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