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| 2. |
- Thorleifsson, Gudmar, et al.
(författare)
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Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:10, s. 906-909
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Tidskriftsartikel (refereegranskat)abstract
- We conducted a genome-wide association study for primary open-angle glaucoma (POAG) in 1,263 affected individuals (cases) and 34,877 controls from Iceland. We identified a common sequence variant at 7q31 (rs4236601[ A], odds ratio (OR) = 1.36, P = 5.0 x 10(-10)). We then replicated the association in sample sets of 2,175 POAG cases and 2,064 controls from Sweden, the UK and Australia (combined OR = 1.18, P = 0.0015) and in 299 POAG cases and 580 unaffected controls from Hong Kong and Shantou, China (combined OR = 5.42, P = 0.0021). The risk variant identified here is located close to CAV1 and CAV2, both of which are expressed in the trabecular meshwork and retinal ganglion cells that are involved in the pathogenesis of POAG.
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| 3. |
- Peloso, Gina M, et al.
(författare)
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Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.
- 2014
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297. ; 94:2, s. 223-232
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Tidskriftsartikel (refereegranskat)abstract
- Low-frequency coding DNA sequence variants in the proprotein convertase subtilisin/kexin type 9 gene (PCSK9) lower plasma low-density lipoprotein cholesterol (LDL-C), protect against risk of coronary heart disease (CHD), and have prompted the development of a new class of therapeutics. It is uncertain whether the PCSK9 example represents a paradigm or an isolated exception. We used the "Exome Array" to genotype >200,000 low-frequency and rare coding sequence variants across the genome in 56,538 individuals (42,208 European ancestry [EA] and 14,330 African ancestry [AA]) and tested these variants for association with LDL-C, high-density lipoprotein cholesterol (HDL-C), and triglycerides. Although we did not identify new genes associated with LDL-C, we did identify four low-frequency (frequencies between 0.1% and 2%) variants (ANGPTL8 rs145464906 [c.361C>T; p.Gln121(∗)], PAFAH1B2 rs186808413 [c.482C>T; p.Ser161Leu], COL18A1 rs114139997 [c.331G>A; p.Gly111Arg], and PCSK7 rs142953140 [c.1511G>A; p.Arg504His]) with large effects on HDL-C and/or triglycerides. None of these four variants was associated with risk for CHD, suggesting that examples of low-frequency coding variants with robust effects on both lipids and CHD will be limited.
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| 4. |
- Mackey, A. L., et al.
(författare)
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Myogenic response of human skeletal muscle to 12 weeks of resistance training at light loading intensity
- 2011
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Ingår i: Scandinavian Journal of Medicine and Science in Sports. - : Wiley-Blackwell. - 0905-7188 .- 1600-0838. ; 21:6, s. 773-782
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Tidskriftsartikel (refereegranskat)abstract
- There is strong evidence for enhanced numbers of satellite cells with heavy resistance training. The satellite cell response to very light muscle loading is, however, unknown. We, therefore, designed a 12-week training protocol where volunteers trained one leg with a high load (H) and the other leg with a light load (L). Twelve young healthy men [mean age 25 ± 3 standard deviation (SD) years] volunteered for the study. Muscle biopsies were collected from the m. vastus lateralis of both legs before and after the training period and satellite cells were visualized by CD56 immunohistochemistry. A significant main effect of time was observed (P<0.001) for the number of CD56+ cells per fiber (L: from 0.11 ± 0.02 to 0.13 ± 0.03; H: from 0.12 ± 0.03 to 0.15 ± 0.05, mean ± SD). The finding that 12 weeks of training skeletal muscle even with very light loads can induce an increase in the number of satellite cells reveals a new aspect of myogenic precursor cell activation and suggests that satellite cells may play a role in skeletal muscle adaptation over a broad physiological range.
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| 5. |
- Mohamed, S., et al.
(författare)
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3D Models of Stellar Interactions
- 2014
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Ingår i: Asymmetrical Planetary Nebulae VI conference, Proceedings of the conference held 4-8 November, 2013. ; , s. 60-
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Symbiotic binaries consist of a cool, evolved mass-losing giant and an accreting compact companion. As symbiotic nebulae show similar morphologies to those in planetary nebulae (so much so that it is often difficult to distinguish between the two), they are ideal laboratories for understanding the role a binary companion plays in shaping the circumstellar envelopes in these evolved systems. We will present 3D Smoothed Particle Hydrodynamics (SPH) models of interacting binaries, e.g. R Aquarii and Mira, and discuss the formation of spiral outflows, arcs, shells and equatorial density enhancements.We will also discuss the implications of the former for planetary nebulae, e.g. the Egg Nebula and Cat's Eye, and the latter for the formation of bipolar geometries, e.g. M2-9. We also investigate accretion and angular momentum evolution in symbiotic binaries which may be important to understand the formation of jets and more episodic mass-loss features we see in circumstellar envelopes and the orbital characteristics of binary central stars of planetary nebulae.
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| 6. |
- Stajich, Jason E., et al.
(författare)
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Insights into evolution of multicellular fungi from the assembled chromosomes of the mushroom Coprinopsis cinerea (Coprinus cinereus)
- 2010
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Ingår i: Proceedings of the National Academy of Sciences. - : Proceedings of the National Academy of Sciences. - 1091-6490 .- 0027-8424. ; 107:26, s. 11889-11894
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Tidskriftsartikel (refereegranskat)abstract
- The mushroom Coprinopsis cinerea is a classic experimental model for multicellular development in fungi because it grows on defined media, completes its life cycle in 2 weeks, produces some 10(8) synchronized meiocytes, and can be manipulated at all stages in development by mutation and transformation. The 37-megabase genome of C. cinerea was sequenced and assembled into 13 chromosomes. Meiotic recombination rates vary greatly along the chromosomes, and retrotransposons are absent in large regions of the genome with low levels of meiotic recombination. Single-copy genes with identifiable orthologs in other basidiomycetes are predominant in low-recombination regions of the chromosome. In contrast, paralogous multicopy genes are found in the highly recombining regions, including a large family of protein kinases (FunK1) unique to multicellular fungi. Analyses of P450 and hydrophobin gene families confirmed that local gene duplications drive the expansions of paralogous copies and the expansions occur in independent lineages of Agaricomycotina fungi. Gene-expression patterns from microarrays were used to dissect the transcriptional program of dikaryon formation (mating). Several members of the FunK1 kinase family are differentially regulated during sexual morphogenesis, and coordinate regulation of adjacent duplications is rare. The genomes of C. cinerea and Laccaria bicolor, a symbiotic basidiomycete, share extensive regions of synteny. The largest syntenic blocks occur in regions with low meiotic recombination rates, no transposable elements, and tight gene spacing, where orthologous single-copy genes are overrepresented. The chromosome assembly of C. cinerea is an essential resource in understanding the evolution of multicellularity in the fungi.
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| 7. |
- Johnsrude, Ingrid S., et al.
(författare)
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Swinging at a Cocktail Party : Voice Familiarity Aids Speech Perception in the Presence of a Competing Voice
- 2013
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Ingår i: Psychological Science. - : Sage Publications. - 0956-7976 .- 1467-9280. ; 24:10, s. 1995-2004
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Tidskriftsartikel (refereegranskat)abstract
- People often have to listen to someone speak in the presence of competing voices. Much is known about the acoustic cues used to overcome this challenge, but almost nothing is known about the utility of cues derived from experience with particular voicescues that may be particularly important for older people and others with impaired hearing. Here, we use a version of the coordinate-response-measure procedure to show that people can exploit knowledge of a highly familiar voice (their spouses) not only to track it better in the presence of an interfering strangers voice, but also, crucially, to ignore it so as to comprehend a strangers voice more effectively. Although performance declines with increasing age when the target voice is novel, there is no decline when the target voice belongs to the listeners spouse. This finding indicates that older listeners can exploit their familiarity with a speakers voice to mitigate the effects of sensory and cognitive decline.
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| 8. |
- Tanvir, N. R., et al.
(författare)
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The structure of star clusters in the outer halo of M31
- 2012
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Ingår i: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 1365-2966 .- 0035-8711. ; 422:1, s. 162-184
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Tidskriftsartikel (refereegranskat)abstract
- We present a structural analysis of halo star clusters in M31 based on deep Hubble Space Telescope (HST) Advanced Camera for Surveys (ACS) imaging. The clusters in our sample span a range in galactocentric projected distance from 13 to 100 kpc and thus reside in rather remote environments. Ten of the clusters are classical globulars, whilst four are from the Huxor et al. population of extended, old clusters. For most clusters, contamination by M31 halo stars is slight, and so the profiles can be mapped reliably to large radial distances from their centres. We find that the extended clusters are well fit by analytic King profiles with similar to 20 parsec core radii and similar to 100 parsec photometric tidal radii, or by Sersic profiles of index similar to 1 (i.e. approximately exponential). Most of the classical globulars also have large photometric tidal radii in the range 50-100 parsec; however, the King profile is a less good fit in some cases, particularly at small radii. We find 60 per cent of the classical globular clusters exhibit cuspy cores which are reasonably well described by Sersic profiles of index similar to 2-6. Our analysis also reinforces the finding that luminous classical globulars, with half-light radii <10 parsec, are present out to radii of at least 100 kpc in M31, which is in contrast to the situation in the Milky Way where such clusters (other than the unusual object NGC 2419) are absent beyond 40 kpc.
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