| 1. |
- Locke, Adam E, et al.
(författare)
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Genetic studies of body mass index yield new insights for obesity biology.
- 2015
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 518:7538, s. 197-401
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Tidskriftsartikel (refereegranskat)abstract
- Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (P < 5 × 10(-8)), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for ∼2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for >20% of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.
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| 2. |
- Anton, Arthur Markus, et al.
(författare)
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Hydrogen bonding and charge transport in a protic polymerized ionic liquid
- 2020
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Ingår i: Soft Matter. - : Royal Society of Chemistry (RSC). - 1744-683X .- 1744-6848. ; 16:26, s. 6091-6101
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Tidskriftsartikel (refereegranskat)abstract
- Hydrogen bonding and charge transport in the protic polymerized ionic liquid poly[tris(2-(2-methoxyethoxy)ethyl)ammoniumacryloxypropyl sulfonate] (PAAPS) are studied by combining Fourier transform infrared (FTIR) and broadband dielectric spectroscopy (BDS) in a wide temperature range from 170 to 300 K. While the former enables to determine precisely the formation of hydrogen bonds and other moiety-specific quantized vibrational states, the latter allows for recording the complex conductivity in a spectral range from 10(-2)to 10(+9) Hz. A pronounced thermal hysteresis is observed for the H-bond network formation in distinct contrast to the reversibility of the effective conductivity measured by BDS. On the basis of this finding and the fact that the conductivity changes with temperature by orders of magnitude, whereas the integrated absorbance of the N-H stretching vibration (being proportional to the number density of protons in the hydrogen bond network) changes only by a factor of 4, it is concluded that charge transport takes place predominantly due to hopping conduction assisted by glassy dynamics (dynamic glass transition assisted hopping) and is not significantly affected by the establishment of H-bonds.
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| 3. |
- Hibar, Derrek P., et al.
(författare)
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Novel genetic loci associated with hippocampal volume
- 2017
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 8
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Tidskriftsartikel (refereegranskat)abstract
- The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal volume, four of them novel. Of the novel loci, three lie within genes (ASTN2, DPP4 and MAST4) and one is found 200 kb upstream of SHH. A hippocampal subfield analysis shows that a locus within the MSRB3 gene shows evidence of a localized effect along the dentate gyrus, subiculum, CA1 and fissure. Further, we show that genetic variants associated with decreased hippocampal volume are also associated with increased risk for Alzheimer's disease (r(g) = -0.155). Our findings suggest novel biological pathways through which human genetic variation influences hippocampal volume and risk for neuropsychiatric illness.
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| 4. |
- Reiter, Manuel, et al.
(författare)
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Tuning the glass transition of siloxane-based poly(ionic liquid)s towards high ion conductivity
- 2021
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Ingår i: Journal of Polymer Science. - : Wiley. - 2642-4150 .- 2642-4169. ; 59:14, s. 1518-1527
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Tidskriftsartikel (refereegranskat)abstract
- Herein, we report a simple and versatile synthetic approach towards siloxane-based poly(ionic liquid)s (PILs) with unusually low glass transition temperatures (Tg) down to −73°C, and thus “liquid-like” behavior at room temperature. We designed a polydimethylsiloxane-derived copolymer carrying dialkylimidazolium moieties, and by careful selection of the side-chain length and the type of anions we were able to manipulate its Tg over a wide range and reach high ionic conductivities (σDC) up to 4.8 × 10−5 S/cm at 300 K. The ionized species make up only a minor fraction (<25 mol%) of the overall repeating units and are supposedly randomly distributed: Yet our results indicate dramatic effects on the thermal properties due to repulsive interactions between ionic and non-ionic segments.
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