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- Bache, Iben, et al.
(författare)
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An excess of chromosome 1 breakpoints in male infertility.
- 2004
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Ingår i: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1476-5438 .- 1018-4813. ; 12:12, s. 993-1000
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Tidskriftsartikel (refereegranskat)abstract
- In a search for potential infertility loci, which might be revealed by clustering of chromosomal breakpoints, we compiled 464 infertile males with a balanced rearrangement from Mendelian Cytogenetics Network database (MCNdb) and compared their karyotypes with those of a Danish nation-wide cohort. We excluded Robertsonian translocations, rearrangements involving sex chromosomes and common variants. We identified 10 autosomal bands, five of which were on chromosome 1, with a large excess of breakpoints in the infertility group. Some of these could potentially harbour a male-specific infertility locus. However, a general excess of breakpoints almost everywhere on chromosome 1 was observed among the infertile males: 26.5 versus 14.5% in the cohort. This excess was observed both for translocation and inversion carriers, especially pericentric inversions, both for published and unpublished cases, and was significantly associated with azoospermia. The largest number of breakpoints was reported in 1q21; FISH mapping of four of these breakpoints revealed that they did not involve the same region at the molecular level. We suggest that chromosome 1 harbours a critical domain whose integrity is essential for male fertility.
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| 5. |
- Charpin, Laurent, et al.
(författare)
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Ageing and air leakage assessment of a nuclear reactor containment mock-up : VERCORS 2nd benchmark
- 2021
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Ingår i: Nuclear Engineering and Design. - : Elsevier BV. - 0029-5493. ; 377
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Tidskriftsartikel (refereegranskat)abstract
- Electricité de France (EDF) operates a large fleet of nuclear reactors and is responsible for demonstrating the safety of facilities, including concrete containment buildings (CCB), which are non-replaceable components. The leak-tightness of CCBs is assessed every 10 years during integrated leak-rate tests (IRLT). For double-wall containments, which have no metallic liners, the leak-tightness is strongly influenced by the degree of cracking of concrete and opening of the cracks, which mostly depends on (a) the prestress decrease due to the delayed strains of concrete and to a lesser extent due to relaxation of tendons steel, and (b) the saturation degree of the Powered by Editorial Manager® and ProduXion Manager® from Aries Systems Corporation concrete wall. Therefore, to optimize the maintenance programs on CCBs, it is important to predict the evolution of drying, creep and shrinkage strains of concrete to be able to correctly assess the pre-stress losses, and finally the air leak-tightness at a structural level during pressure tests or under accidental loadings. To improve our understanding and identify the best modelling practices on this issue, a large experimental program called VERCORS was launched in 2014. VERCORS is a 1/3 mock-up of a 1300 MWe nuclear reactor CCB. It has been widely instrumented, and its concrete thoroughly characterized. A specific attention has been paid to ensure it is consistent with real CBBs features in EDF's nuclear fleet. To complement its internal R&D efforts, EDF decided to associate external partners to this program. One of the means for this is the organization of benchmarks, where all teams are given data and information about the mock-up and are asked to quantitatively predict its behaviour. The present paper reports the organization and findings of the 2nd benchmark which was organized in 2018 and gathered several international teams around the same objective: improve the confidence in the modelling of structural behaviour as well as the leak-tightness of concrete in containment walls under pressure test loading. The benchmark has shown once again that predicting the mechanical and leakage behaviour of containment buildings is a difficult task. The benchmark also yielded interesting information about the possibility to use spatially reduced models to predict the mechanical behaviour and leakage and underlined the fact that more research must be done to better predict the localization of cracks and leakage. Some lessons have been learnt for the next benchmark: EDF will ask to clarify further the calibration methods, will give more data (including drying, creep and shrinkage at different temperatures and moisture measurements in the mock-up), and will help the participants using local leakage data by projecting the raw measurements on a regular grid, so that the local leakage models can be improved.
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- Dherbecourt, Jean Baptiste, et al.
(författare)
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Injection-Free and Cavity Free Parametric Sources for Future Spaceborne DIAL Based on Periodically Poled Nonlinear Materials
- 2024
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Ingår i: Springer Aerospace Technology. - : Springer Nature. ; , s. 363-371
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- We present new parametric source architectures for future spaceborne Differential Absorption Lidar (DIAL). This work focalizes on the developments performed during LEMON H2020 project using periodically poled nonlinear crystals. Such phase matching configuration offers the possibility to go towards more simple and robust set-ups for future space operation. We investigated injection-free optical parametric oscillator OPO set-ups, such as the Nested Cavity OPO–which allows a broad tuning range and thus can address several gas species with a single OPO—and also propose an injection and cavity free OPO solution using the counter-propagating phase matching configuration (Backward wave OPO). Moreover, we studied the implementation of high efficiency optical parametric amplifiers, to investigate the possibility to scale the output energies to several tens of mJ in the 2 µm region, and performed radiation testing on the specifically developed, large aperture, periodically poled KTP crystals.
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- Franke, Andre, et al.
(författare)
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Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci
- 2010
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:12, s. 1118-1125
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Tidskriftsartikel (refereegranskat)abstract
- We undertook a meta-analysis of six Crohn's disease genome-wide association studies (GWAS) comprising 6,333 affected individuals (cases) and 15,056 controls and followed up the top association signals in 15,694 cases, 14,026 controls and 414 parent-offspring trios. We identified 30 new susceptibility loci meeting genome-wide significance (P < 5 × 10⁻⁸). A series of in silico analyses highlighted particular genes within these loci and, together with manual curation, implicated functionally interesting candidate genes including SMAD3, ERAP2, IL10, IL2RA, TYK2, FUT2, DNMT3A, DENND1B, BACH2 and TAGAP. Combined with previously confirmed loci, these results identify 71 distinct loci with genome-wide significant evidence for association with Crohn's disease.
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- Lequarre, Anne-Sophie, et al.
(författare)
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LUPA : A European initiative taking advantage of the canine genome architecture for unravelling complex disorders in both human and dogs
- 2011
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Ingår i: The Veterinary Journal. - : Elsevier BV. - 1090-0233 .- 1532-2971. ; 189:2, s. 155-159
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Forskningsöversikt (refereegranskat)abstract
- The domestic dog offers a unique opportunity to explore the genetic basis of disease, morphology and behaviour. Humans share many diseases with our canine companions, making dogs an ideal model organism for comparative disease genetics. Using newly developed resources, genome-wide association studies in dog breeds are proving to be exceptionally powerful. Towards this aim, veterinarians and geneticists from 12 European countries are collaborating to collect and analyse the DNA from large cohorts of dogs suffering from a range of carefully defined diseases of relevance to human health. This project, named LUPA, has already delivered considerable results. The consortium has collaborated to develop a new high density single nucleotide polymorphism (SNP) array. Mutations for four monogenic diseases have been identified and the information has been utilised to find mutations in human patients. Several complex diseases have been mapped and fine mapping is underway. These findings should ultimately lead to a better understanding of the molecular mechanisms underlying complex diseases in both humans and their best friend.
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- Momozawa, Yukihide, et al.
(författare)
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Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease
- 2011
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Ingår i: Nature Genetics. - New York : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 43:1, s. 43-47
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWAS) have identified dozens of risk loci for many complex disorders, including Crohn's disease. However, common disease-associated SNPs explain at most ∼20% of the genetic variance for Crohn's disease. Several factors may account for this unexplained heritability, including rare risk variants not adequately tagged thus far in GWAS. That rare susceptibility variants indeed contribute to variation in multifactorial phenotypes has been demonstrated for colorectal cancer, plasma high-density lipoprotein cholesterol levels, blood pressure, type 1 diabetes, hypertriglyceridemia and, in the case of Crohn's disease, for NOD2 (refs. 14,15). Here we describe the use of high-throughput resequencing of DNA pools to search for rare coding variants influencing susceptibility to Crohn's disease in 63 GWAS-identified positional candidate genes. We identify low frequency coding variants conferring protection against inflammatory bowel disease in IL23R, but we conclude that rare coding variants in positional candidates do not make a large contribution to inherited predisposition to Crohn's disease.
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- Mølster, Kjell Martin, 1992-, et al.
(författare)
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Highly efficient, high average power, narrowband, pump-tunable BWOPO
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- We demonstrate a continuously tunable mid-infrared source that produces narrowband radiation at 1981 nm and 2145 nm based on a tunable Yb-based hybrid MOPA pump and backward-wave optical parametric oscillator (BWOPO). The BWOPO employs PPRKTP crystal with 580 nm domain periodicity. The BWOPO has a record-low oscillation threshold of 19.2 MW/cm2 and generates mJ-level output with efficiency exceeding 70%, reaching average power of 5.65W at the repetition rate of 5 KHz. The system is mechanically robust and optical cavity-free, making it suitable for spectroscopic systems on mobile platforms. The MIR signal frequency is tuned by pump tuning with a linear pump-to-signal frequency translation rate of 1-to-1.001 Hz/Hz. The tuning range of 10 GHz is demonstrated only limited by choice of the seed laser in the Yb-based MOPA system.
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