| 1. |
- Aad, G., et al.
(författare)
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- 2012
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Tidskriftsartikel (refereegranskat)
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| 2. |
- Aad, G., et al.
(författare)
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- 2011
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Tidskriftsartikel (refereegranskat)
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| 3. |
- 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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| 4. |
- Pansuriya, Twinkal C., et al.
(författare)
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Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome
- 2011
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 43:12, s. 1256-1261
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Tidskriftsartikel (refereegranskat)abstract
- Ollier disease and Maffucci syndrome are non-hereditary skeletal disorders characterized by multiple enchondromas (Ollier disease) combined with spindle cell hemangiomas (Maffucci syndrome). We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors. Fourteen of 16 subjects had identical mutations in separate lesions. Immunohistochemistry to detect mutant IDH1 R132H protein suggested intraneoplastic and somatic mosaicism. IDH1 mutations in cartilage tumors were associated with hypermethylation and downregulated expression of several genes. Mutations were also found in 40% of solitary central cartilaginous tumors and in four chondrosarcoma cell lines, which will enable functional studies to assess the role of IDH1 and IDH2 mutations in tumor formation.
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| 5. |
- Kirby, A J, et al.
(författare)
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Gemini surfactants: New synthetic vectors for gene transfection
- 2003
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Ingår i: Angewandte Chemie International Edition in English. - : Wiley. - 0570-0833 .- 1433-7851 .- 1521-3773. ; 42:13, s. 1448-1457
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Forskningsöversikt (refereegranskat)abstract
- The superior surfactant properties of cationic gemini surfactants are applied to the complex problem of introducing genes into cells. Of almost 250 new compounds tested, of some 20 different structural types, a majority showed very good transfection activity in vitro. The surfactant is shown to bind and compact DNA efficiently, and structural studies and calculations provide a working picture of the lipoplex formed. The lipoplex can penetrate the outer membranes of many cell types, to appear in the cytoplasm encapsulated within endosomes. Escape from the endosome - a key step for transfection - may be controlled by changes in the aggregation behavior of the lipoplex as the pH falls. The evidence suggests that DNA may be released from the lipoplex before entry into the nucleus, where the new gene can be expressed with high efficiency.
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| 6. |
- Van der Elst, Kristien, et al.
(författare)
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European Qualitative research project on Patient-preferred outcomes in Early Rheumatoid Arthritis (EQPERA) : rationale, design and methods of a multinational, multicentre, multilingual, longitudinal qualitative study
- 2019
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Ingår i: BMJ Open. - London, UK : BMJ Publishing Group Ltd. - 2044-6055. ; 9:3
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Tidskriftsartikel (refereegranskat)abstract
- INTRODUCTION: Including the patient perspective is important to achieve optimal outcomes in the treatment of rheumatoid arthritis (RA). Ample qualitative studies exist on patient outcomes in RA. A Belgian study recently unravelled what matters most to patients throughout the overwhelming and rapidly evolving early stage of RA. The present study, European Qualitative research project on Patient-preferred outcomes in Early Rheumatoid Arthritis (EQPERA) was created to contribute to a more universal understanding of patient-preferred health and treatment outcomes by integrating the perspectives of patients with early RA from three European countries.METHODS AND ANALYSIS: In EQPERA, a qualitative, explorative, longitudinal study will be implemented in The Netherlands and Sweden, parallel to the methods applied in the previously conducted Belgian study. In each country, a purposive sample of patients with early RA will be individually interviewed 3-6 months after start of the initial RA treatment and subsequently, the same participants will be invited to take part in a focus group 12-18 months after RA treatment initiation. Data collection and analysis will be independently conducted by the local research teams in their native language. A meta-analysis of the local findings will be performed to explore and describe similarities, differences and patterns across countries.ETHICS AND DISSEMINATION: Ethics approval was granted by the responsible local ethics committees. EQPERA follows the recommendations of the Declaration of Helsinki. Two main papers are foreseen (apart from the data reporting on the local findings) for peer-reviewed publication.© Author(s) (or their employer(s)) 2019.
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| 7. |
- Karlsson, L, et al.
(författare)
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Compaction of DNA by gemini surfactants: Effects of surfactant architecture
- 2002
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Ingår i: Journal of Colloid and Interface Science. - : Elsevier BV. - 1095-7103 .- 0021-9797. ; 252:2, s. 290-296
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Tidskriftsartikel (refereegranskat)abstract
- The interaction between bacteriophage T4 DNA and cationic gemini surfactants was studied by the use of fluorescence microscopy. Upon addition of surfactant, DNA undergoes a transition from random coil to globule, with an intermediate coexistence region. The state behavior of a DNA-gemini surfactant system was found to depend on spacer length, valency, head group size, and tail length. A series of alkanediyl-alpha,omega-bis-(dimethylalkylammonium bromide) surfactants with fixed tail length and variable spacer length s showed a minimum of compaction efficiency at s = 6 due to the competition between entropy loss and enthalpy gain. This occurs at roughly the same spacer length at which the critical micellization concentration shows a maximal value (at s = 5). In comparison with a single-tailed divalent surfactant (12-3-1) it was shown that the two-tailed equivalent (12-3-12) was more efficient in compacting DNA. A series of gemini surfactants based on cationic peptides with a alpha,omega-diamino alkyl spacer showed similar behavior upon changing the spacer length. Additionally, two surfactants based on diastereomers of tartaric acid with hexadecanoic acid tails and alpha,omega-diaminopropanyl and spermidine head groups, respectively, showed effects of head group size that depended strongly on entropy effects. The dependence on valency of the head group is found to be similar to what is known for mono- and multivalent ions, the latter being more efficient per unit of charge. (C) 2002 Elsevier Science (USA).
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