| 1. |
- Antoniou, A. C., et al.
(författare)
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Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers : Implications for risk prediction
- 2010
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Ingår i: Cancer Research. - : American Association for Cancer Research. - 0008-5472 .- 1538-7445. ; 70:23, s. 9742-9754
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Tidskriftsartikel (refereegranskat)abstract
- The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide polymorphisms (SNPs), rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11, and rs10941679 at 5p12, and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased breast cancer risk for BRCA2 carriers (per-allele HR = 1.10, 95% CI: 1.03-1.18, P = 0.006 and HR = 1.09, 95% CI: 1.01-1.19, P = 0.03, respectively). Neither SNP was associated with breast cancer risk for BRCA1 carriers, and rs6504950 was not associated with breast cancer for either BRCA1 or BRCA2 carriers. Of the 9 polymorphisms investigated, 7 were associated with breast cancer for BRCA2 carriers (FGFR2, TOX3, MAP3K1, LSP1, 2q35, SLC4A7, 5p12, P = 7 × 10-11 - 0.03), but only TOX3 and 2q35 were associated with the risk for BRCA1 carriers (P = 0.0049, 0.03, respectively). All risk-associated polymorphisms appear to interact multiplicatively on breast cancer risk for mutation carriers. Based on the joint genotype distribution of the 7 risk-associated SNPs in BRCA2 mutation carriers, the 5% of BRCA2 carriers at highest risk (i.e., between 95th and 100th percentiles) were predicted to have a probability between 80% and 96% of developing breast cancer by age 80, compared with 42% to 50% for the 5% of carriers at lowest risk. Our findings indicated that these risk differences might be sufficient to influence the clinical management of mutation carriers.
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| 2. |
- Osorio, A., et al.
(författare)
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Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2 (CIMBA)
- 2009
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Ingår i: British Journal of Cancer. - : Nature Publishing Group. - 0007-0920 .- 1532-1827. ; 101:12, s. 2048-2054
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Tidskriftsartikel (refereegranskat)abstract
- Background: In this study we aimed to evaluate the role of a SNP in intron 1 of the ERCC4 gene (rs744154), previously reported to be associated with a reduced risk of breast cancer in the general population, as a breast cancer risk modifier in BRCA1 and BRCA2 mutation carriers. Methods: We have genotyped rs744154 in 9408 BRCA1 and 5632 BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and assessed its association with breast cancer risk using a retrospective weighted cohort approach. Results: We found no evidence of association with breast cancer risk for BRCA1 (per-allele HR: 0.98, 95% CI: 0.93-1.04, P0.5) or BRCA2 (per-allele HR: 0.97, 95% CI: 0.89-1.06, P0.5) mutation carriers. Conclusion: This SNP is not a significant modifier of breast cancer risk for mutation carriers, though weak associations cannot be ruled out.
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| 3. |
- Saevarsdottir, S., et al.
(författare)
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Multiomics analysis of rheumatoid arthritis yields sequence variants that have large effects on risk of the seropositive subset
- 2022
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Ingår i: Annals of the Rheumatic Diseases. - : BMJ. - 0003-4967 .- 1468-2060. ; 81:8
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Tidskriftsartikel (refereegranskat)abstract
- Objectives To find causal genes for rheumatoid arthritis (RA) and its seropositive (RF and/or ACPA positive) and seronegative subsets. Methods We performed a genome-wide association study (GWAS) of 31 313 RA cases (68% seropositive) and similar to 1 million controls from Northwestern Europe. We searched for causal genes outside the HLA-locus through effect on coding, mRNA expression in several tissues and/or levels of plasma proteins (SomaScan) and did network analysis (Qiagen). Results We found 25 sequence variants for RA overall, 33 for seropositive and 2 for seronegative RA, altogether 37 sequence variants at 34 non-HLA loci, of which 15 are novel. Genomic, transcriptomic and proteomic analysis of these yielded 25 causal genes in seropositive RA and additional two overall. Most encode proteins in the network of interferon-alpha/beta and IL-12/23 that signal through the JAK/STAT-pathway. Highlighting those with largest effect on seropositive RA, a rare missense variant in STAT4 (rs140675301-A) that is independent of reported non-coding STAT4-variants, increases the risk of seropositive RA 2.27-fold (p=2.1x10(-9)), more than the rs2476601-A missense variant in PTPN22 (OR=1.59, p=1.3x10(-160)). STAT4 rs140675301-A replaces hydrophilic glutamic acid with hydrophobic valine (Glu128Val) in a conserved, surface-exposed loop. A stop-mutation (rs76428106-C) in FLT3 increases seropositive RA risk (OR=1.35, p=6.6x10(-11)). Independent missense variants in TYK2 (rs34536443-C, rs12720356-C, rs35018800-A, latter two novel) associate with decreased risk of seropositive RA (ORs=0.63-0.87, p=10(-9)-10(-27)) and decreased plasma levels of interferon-alpha/beta receptor 1 that signals through TYK2/JAK1/STAT4. Conclusion Sequence variants pointing to causal genes in the JAK/STAT pathway have largest effect on seropositive RA, while associations with seronegative RA remain scarce.
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| 4. |
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| 5. |
- Choubina, Tatiana, 1950-, et al.
(författare)
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The slow light in GaN
- 2008
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Ingår i: ICPS2008,2008. ; , s. 647-
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Konferensbidrag (refereegranskat)
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| 6. |
- Ivanov, S.V., et al.
(författare)
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MBE growth and properties of bulk BeCdSe alloys and digital (BeSe : CdSe)/ZnSe quantum wells
- 2000
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Ingår i: Journal of Crystal Growth. - 0022-0248 .- 1873-5002. ; 214, s. 109-114
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Tidskriftsartikel (refereegranskat)abstract
- We report for the first time on MBE growth, structural and optical properties of single layers, quantum well structures and short-period superlattices based on BexCd1-xSe ternary alloys on GaAs. Both the conventional MBE growth mode and the sub-monolayer digital alloying technique (SDA) have been employed for the fabrication of the structures. Compositional boundaries of an instability region 0.03 < x < 0.38, calculated in a regular solution approximation for the completely coherent system, agree well with available experimental data. A suppression of the phase separation in BeCdSe by elastic stress in the layer, accompanied by a strong reduction of the Cd incorporation coefficient has been found. Ultrathin 2.8 ML BeCdSe SDA QWs with x approx. 0.15 demonstrate about an order of magnitude increase in the PL intensity with respect to the pure CdSe one, probably resulting from an enhanced carrier localization efficiency. Eg as a function of the Be content reveals a strong bowing in optical data, which allows one to consider BeCdSe alloys with compositions nearly lattice-matched to GaAs as potential materials for the active region of blue-green lasers.
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| 7. |
- Shubina, Tatiana, et al.
(författare)
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Recombination dynamics and lasing in ZnO/ZnMgO single quantum well structures
- 2007
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Ingår i: Applied Physics Letters. - : AIP Publishing. - 0003-6951 .- 1077-3118. ; 91:20
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Tidskriftsartikel (refereegranskat)abstract
- We report a time-resolved study of the recombination dynamics in molecular beam epitaxy grown ZnOZnMgO single quantum wells (SQWs) of 1.0-4.5 nm width. The SQWs exhibit different emission properties, depending on both the well width and defect density. Stimulated emission has been achieved at room temperature in a separate confinement double heterostructure having a 3 nm wide SQW as an active region. It has been found that a critical parameter for the lasing is the inhomogeneous broadening of both QW and barrier emission bands. © 2007 American Institute of Physics.
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| 8. |
- Shubina, Tatiana, et al.
(författare)
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Resonant light delay in GaN with ballistic and diffusive propagation
- 2008
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Ingår i: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 100:8
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Tidskriftsartikel (refereegranskat)abstract
- We report on a strong delay in light propagation through bulk GaN, detected by time-of-flight spectroscopy. The delay increases resonantly as the photon energy approaches the energy of a neutral-donor bound exciton (BX), resulting in a velocity of light as low as 2100 km/s. In the close vicinity of the BX resonance, the transmitted light contains both ballistic and diffusive components. This phenomenon is quantitatively explained in terms of optical dispersion in a medium where resonant light scattering by the BX resonance takes place in addition to the polariton propagation.
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| 9. |
- Toropov, A. A., et al.
(författare)
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Suppression of the quantum-confined Stark effect in AlxGa1-xN/AlyGa1-yN corrugated quantum wells
- 2013
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Ingår i: Journal of Applied Physics. - : American Institute of Physics (AIP). - 0021-8979 .- 1089-7550. ; 114:12
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Tidskriftsartikel (refereegranskat)abstract
- We report comparative studies of 6-nm-thick AlxGa1-xN/AlyGa1-yN pyroelectric quantum wells (QWs) grown by plasma-assisted molecular beam epitaxy on c-sapphire substrates with a thick AlN buffer deposited under different growth conditions. The Al-rich growth conditions result in a 2D growth mode and formation of a planar QW, whereas the N-rich conditions lead to a 3D growth mode and formation of a QW corrugated on the size scale of 200-300 nm. Time-resolved photoluminescence (PL) measurements reveal a strong quantum-confined Stark effect in the planar QW, manifested by a long PL lifetime and a red shift of the PL line. In the corrugated QW, the emission line emerges 200 meV higher in energy, the low-temperature PL lifetime is 40 times shorter, and the PL intensity is stronger (similar to 4 times at 4.5K and similar to 60 times at 300 K). The improved emission properties are explained by suppression of the quantum-confined Stark effect due to the reduction of the built-in electric field within the QW planes, which are not normal to the [0001] direction, enhanced carrier localization, and improved efficiency of light extraction.
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| 10. |
- Choubina, Tatiana, 1950-, et al.
(författare)
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Slow light in GaN
- 2008
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Ingår i: 16th Int. Symp. ¿Nanostructures: Physics and Technology,2008. ; , s. 257-
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Konferensbidrag (refereegranskat)
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