| 1. |
- Clark, DW, et al.
(författare)
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Associations of autozygosity with a broad range of human phenotypes
- 2019
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4957-
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Tidskriftsartikel (refereegranskat)abstract
- In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44–66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.
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| 13. |
- Siemens, N, et al.
(författare)
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Increased cytotoxicity and streptolysin O activity in group G streptococcal strains causing invasive tissue infections
- 2015
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Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 5, s. 16945-
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Tidskriftsartikel (refereegranskat)abstract
- Streptococcus dysgalactiae subsp. equisimilis (SDSE) has emerged as an important cause of severe skin and soft tissue infections, but little is known of the pathogenic mechanisms underlying tissue pathology. Patient samples and a collection of invasive and non-invasive group G SDSE strains (n = 69) were analyzed with respect to virulence factor expression and cytotoxic or inflammatory effects on human cells and 3D skin tissue models. SDSE strains efficiently infected the 3D-skin model and severe tissue pathology, inflammatory responses and altered production of host structural framework proteins associated with epithelial barrier integrity were evident already at 8 hours post-infection. Invasive strains were significantly more cytotoxic towards keratinocytes and expressed higher Streptokinase and Streptolysin O (SLO) activities, as compared to non-invasive strains. The opposite was true for Streptolysin S (SLS). Fractionation and proteomic analysis of the cytotoxic fractions implicated SLO as a factor likely contributing to the keratinocyte cytotoxicity and tissue pathology. Analyses of patient tissue biopsies revealed massive bacterial load, high expression of slo, as well as immune cell infiltration and pro-inflammatory markers. Our findings suggest the contribution of SLO to epithelial cytotoxicity and tissue pathology in SDSE tissue infections.
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| 14. |
- Siemsen, BL, et al.
(författare)
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Role of ramp2 in angiogenesis
- 2013
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Ingår i: ANGIOGENESIS. - 0969-6970. ; 16:1, s. 261-262
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)
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| 15. |
- Sprengers, JP, et al.
(författare)
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Lifetime and predissociation yield of N-14(2) b (1)Pi(u)(v=1)
- 2004
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Ingår i: Journal of Chemical Physics. - : AIP Publishing. - 0021-9606 .- 1089-7690. ; 120:19, s. 8973-8978
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Tidskriftsartikel (refereegranskat)abstract
- The lifetime of the b (1)Pi(u)(v=1) state in N-14(2) has been determined experimentally using a laser-based pump-probe scheme and an exceptionally long lifetime of 2.61 ns was found. Semiempirical close-coupling calculations of the radiative lifetime, which include Rydberg-valence interactions in the singlet manifold, are consistent with this large value, giving a value of 3.61 ns and suggesting a predissociation yield of similar to28% for this level of the b state. (C) 2004 American Institute of Physics.
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| 16. |
- Sprengers, JP, et al.
(författare)
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Pump-probe lifetime measurements on singlet ungerade states in molecular nitrogen
- 2004
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Ingår i: Chemical Physics Letters. - : Elsevier BV. - 0009-2614. ; 389:4-6, s. 348-351
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Tidskriftsartikel (refereegranskat)abstract
- Excited-state lifetimes for a number of vibronic states of (1)Pi(u) symmetry in molecular nitrogen have been determined experimentally in a laser-based pump-probe scheme using a coherent and tunable extreme ultraviolet source based on harmonic generation. States investigated in N-14(2) were b(1)Pi(u)(v = 6-9), of valence character, and c(3)(1)Pi(u)(v = 1) and o(3)(1)Pi(u)(v = 1), of Rydberg character. In the case of b(1)Pi(u)(v = 7) and c(3)(1)Pi(u)(v = 1), rotationally dependent predissociation was observed. States studied in N-15(2) were b(1)Pi(u)(v = 5) and c(3)(1)Pi(u)(v = 1); in addition, lifetimes of the c(4)'Sigma(u)(+)(v = 0,1) and b'(1)Sigma(u)(+)(v = 1) states were determined. The lifetimes show a dependence on the vibrational quantum number and isotope. (C) 2004 Elsevier B.V. All rights reserved.
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