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- Tabassum, R, et al.
(författare)
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Genetic architecture of human plasma lipidome and its link to cardiovascular disease
- 2019
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4329-
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Tidskriftsartikel (refereegranskat)abstract
- Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses of 141 lipid species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes (n = 511,700 individuals). We identify 35 lipid-species-associated loci (P <5 ×10−8), 10 of which associate with CVD risk including five new loci-COL5A1, GLTPD2, SPTLC3, MBOAT7 and GALNT16 (false discovery rate<0.05). We identify loci for lipid species that are shown to predict CVD e.g., SPTLC3 for CER(d18:1/24:1). We show that lipoprotein lipase (LPL) may more efficiently hydrolyze medium length triacylglycerides (TAGs) than others. Polyunsaturated lipids have highest heritability and genetic correlations, suggesting considerable genetic regulation at fatty acids levels. We find low genetic correlations between traditional lipids and lipid species. Our results show that lipidomic profiles capture information beyond traditional lipids and identify genetic variants modifying lipid levels and risk of CVD.
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- Jouault, B., et al.
(författare)
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Josephson Coupling in Junctions Made of Monolayer Graphene Grown on SiC
- 2016
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Ingår i: Journal of Superconductivity and Novel Magnetism. - : Springer Science and Business Media LLC. - 1557-1947 .- 1557-1939. ; 29:5, s. 1145-1150
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Tidskriftsartikel (refereegranskat)abstract
- Chemical vapor deposition has proved to be successful in producing graphene samples on silicon carbide (SiC) homogeneous at the centimeter scale in terms of Hall conductance quantization. Here, we report on the realization of co-planar diffusive Al/ monolayer graphene/ Al junctions on the same graphene sheet, with separations between the electrodes down to 200 nm. Robust Josephson coupling has been measured for separations not larger than 300 nm. Transport properties are reproducible on different junctions and indicate that graphene on SiC substrates is a concrete candidate to provide scalability of hybrid Josephson graphene/superconductor devices.
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- Ambros, I. M., et al.
(författare)
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Age Dependency of the Prognostic Impact of Tumor Genomics in Localized Resectable MYCN-Nonamplified Neuroblastomas. Report From the SIOPEN Biology Group on the LNESG Trials and a COG Validation Group
- 2020
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Ingår i: Journal of Clinical Oncology. - : American Society of Clinical Oncology (ASCO). - 0732-183X .- 1527-7755. ; 38:31
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSEFor localized, resectable neuroblastoma without MYCN amplification, surgery only is recommended even if incomplete. However, it is not known whether the genomic background of these tumors may influence outcome.PATIENTS AND METHODSDiagnostic samples were obtained from 317 tumors, International Neuroblastoma Staging System stages 1/2A/2B, from 3 cohorts: Localized Neuroblastoma European Study Group I/II and Children's Oncology Group. Genomic data were analyzed using multi- and pangenomic techniques and fluorescence in-situ hybridization in 2 age groups (cutoff age, 18 months) and were quality controlled by the International Society of Pediatric Oncology European Neuroblastoma (SIOPEN) Biology Group.RESULTSPatients with stage 1 tumors had an excellent outcome (5-year event-free survival [EFS] standard deviation [SD], 95% +/- 2%; 5-year overall survival [OS], 99% +/- 1%). In contrast, patients with stage 2 tumors had a reduced EFS in both age groups (5-year EFS +/- SD, 84% +/- 3% in patients < 18 months of age and 75% 7% in patients >= 18 months of age). However, OS was significantly decreased only in the latter group (5-year OS +/- SD in < 18months and 18months, 96% +/- 2% and 81% +/- 7%, respectively; P = .001). In < 18months, relapses occurred independent of segmental chromosome aberrations (SCAs); only 1p loss decreased EFS (5-year EFS SD in patients 1p loss and no 1p loss, 62% +/- 13% and 87% +/- 3%, respectively; P = .019) but not OS (5-year OS +/- SD, 92% +/- 8% and 97% +/- 2%, respectively). In patients >= 18 months, only SCAs led to relapse and death, with 11q loss as the strongest marker (11q loss and no 11q loss: 5-year EFS +/- SD, 48% +/- 16% and 85% +/- 7%, P = .033; 5-year OS +/- SD, 46% +/- 22% and 92% +/- 6%, P = .038).CONCLUSIONGenomic aberrations of resectable non-MYCN-amplified stage 2 neuroblastomas have a distinct age-dependent prognostic impact. Chromosome 1p loss is a risk factor for relapse but not for diminished OS in patients < 18 months, SCAs (especially 11q loss) are risk factors for reduced EFS and OS in those > 18months. In older patients with SCA, a randomized trial of postoperative chemotherapy compared with observation alone may be indicated.
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- Jallow, Muminatou, et al.
(författare)
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Genome-wide and fine-resolution association analysis of malaria in West Africa.
- 2009
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; , s. 657-665
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Tidskriftsartikel (refereegranskat)abstract
- We report a genome-wide association (GWA) study of severe malaria in The Gambia. The initial GWA scan included 2,500 children genotyped on the Affymetrix 500K GeneChip, and a replication study included 3,400 children. We used this to examine the performance of GWA methods in Africa. We found considerable population stratification, and also that signals of association at known malaria resistance loci were greatly attenuated owing to weak linkage disequilibrium (LD). To investigate possible solutions to the problem of low LD, we focused on the HbS locus, sequencing this region of the genome in 62 Gambian individuals and then using these data to conduct multipoint imputation in the GWA samples. This increased the signal of association, from P = 4 x 10(-7) to P = 4 x 10(-14), with the peak of the signal located precisely at the HbS causal variant. Our findings provide proof of principle that fine-resolution multipoint imputation, based on population-specific sequencing data, can substantially boost authentic GWA signals and enable fine mapping of causal variants in African populations.
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- Massarotti, D., et al.
(författare)
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Incipient Berezinskii-Kosterlitz-Thouless transition in two-dimensional coplanar Josephson junctions
- 2016
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Ingår i: Physical Review B. - 2469-9969 .- 2469-9950. ; 94:5
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Tidskriftsartikel (refereegranskat)abstract
- Superconducting hybrid junctions are revealing a variety of effects. Some of them are due to the special layout of these devices, which often use a coplanar configuration with relatively large barrier channels and the possibility of hosting Pearl vortices. A Josephson junction with a quasi-ideal two-dimensional barrier has been realized by growing graphene on SiC with Al electrodes. Chemical vapor deposition offers centimeter size monolayer areas where it is possible to realize a comparative analysis of different devices with nominally the same barrier. In samples with a graphene gap below 400 nm, we have found evidence of Josephson coherence in the presence of an incipient Berezinskii-Kosterlitz-Thouless transition. When the magnetic field is cycled, a remarkable hysteretic collapse and revival of the Josephson supercurrent occurs. Similar hysteresis are found in granular systems and are usually justified within the Bean critical state model (CSM). We show that the CSM, with appropriate account for the low-dimensional geometry, can partly explain the odd features measured in these junctions.
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- Giannazzo, F., et al.
(författare)
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Graphene integration with nitride semiconductors for high power and high frequency electronics
- 2017
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Ingår i: Physica Status Solidi (a) applications and materials science. - : WILEY-V C H VERLAG GMBH. - 1862-6300 .- 1862-6319. ; 214:4
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Tidskriftsartikel (refereegranskat)abstract
- Group III nitride semiconductors (III-N), including GaN, AlN, InN, and their alloys, are currently the materials of choice for many applications in optoelectronics (light-emitting diodes, laser diodes), and high-power and high-frequency transistors. Due to its attractive electrical, optical, mechanical, and thermal properties, graphene (Gr) integration with III-N technology has been considered in the last few years, in order to address some of the major issues which still limit the performances of GaN-based devices. To date, most of the studies have been focused on the use of Gr as transparent conductive electrode (TCE) to improve current spreading from top electrodes and light extraction in GaN-LEDs. This paper will review recent works evaluating the benefits of Gr integration with III-N for high power and high frequency electronics. From the materials side, recent progresses in the growth of high quality GaN layers on Gr templates and in the deposition of Gr on III-N substrates and templates will be presented. From the applications side, strategies to use Gr for thermal management in high-power AlGaN/GaN transistors will be discussed. Finally, recent proposals of implementing new ultra-high-frequency (THz) transistors, such as the Gr base hot electron transistor (GBHET), by Gr integration with III-N will be highlighted. (C) 2016 WILEY-VCH Verlag GmbH amp; Co. KGaA, Weinheim
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