| 1. |
- van der Harst, Pim, et al.
(författare)
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Seventy-five genetic loci influencing the human red blood cell
- 2012
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 492:7429, s. 369-375
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Tidskriftsartikel (refereegranskat)abstract
- Anaemia is a chief determinant of global ill health, contributing to cognitive impairment, growth retardation and impaired physical capacity. To understand further the genetic factors influencing red blood cells, we carried out a genome-wide association study of haemoglobin concentration and related parameters in up to 135,367 individuals. Here we identify 75 independent genetic loci associated with one or more red blood cell phenotypes at P < 10(-8), which together explain 4-9% of the phenotypic variance per trait. Using expression quantitative trait loci and bioinformatic strategies, we identify 121 candidate genes enriched in functions relevant to red blood cell biology. The candidate genes are expressed preferentially in red blood cell precursors, and 43 have haematopoietic phenotypes in Mus musculus or Drosophila melanogaster. Through open-chromatin and coding-variant analyses we identify potential causal genetic variants at 41 loci. Our findings provide extensive new insights into genetic mechanisms and biological pathways controlling red blood cell formation and function.
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| 2. |
- Aktas, Ozan, et al.
(författare)
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Interfacing telecom fibers and silicon core fibers with nano-spikes for in-fiber silicon devices
- 2018
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Ingår i: 2018 Optical Fiber Communications Conference and Exposition, OFC 2018 - Proceedings. - : Institute of Electrical and Electronics Engineers Inc. (IEEE). ; , s. 1-3
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Konferensbidrag (refereegranskat)abstract
- We report fabrication of tapered silicon core fibers with nano-spikes enabling efficient optical coupling into the core, as well as their seamless integration with single mode fibers. A proof-of-concept integrated in-fiber silicon device is demonstrated.
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| 3. |
- Ren, H., et al.
(författare)
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Low-loss silicon core fibre platform for mid-infrared nonlinear photonics
- 2019
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Ingår i: Light. - : Springer Nature. - 2095-5545 .- 2047-7538. ; 8:1
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Tidskriftsartikel (refereegranskat)abstract
- Broadband mid-infrared light sources are highly desired for wide-ranging applications that span free-space communications to spectroscopy. In recent years, silicon has attracted great interest as a platform for nonlinear optical wavelength conversion in this region, owing to its low losses (linear and nonlinear) and high stability. However, most research in this area has made use of small core waveguides fabricated from silicon-on-insulator platforms, which suffer from high absorption losses of the use of silica cladding, limiting their ability to generate light beyond 3 µm. Here, we design and demonstrate a compact silicon core, silica-clad waveguide platform that has low losses across the entire silicon transparency window. The waveguides are fabricated from a silicon core fibre that is tapered to engineer mode properties to ensure efficient nonlinear propagation in the core with minimal interaction of the mid-infrared light with the cladding. These waveguides exhibit many of the benefits of fibre platforms, such as a high coupling efficiency and power handling capability, allowing for the generation of mid-infrared supercontinuum spectra with high brightness and coherence spanning almost two octaves (1.6–5.3 µm).
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| 4. |
- Song, S., et al.
(författare)
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Crystalline GaSb-core optical fibers with room-temperature photoluminescence
- 2018
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Ingår i: Optical Materials Express. - : OPTICAL SOC AMER. - 2159-3930 .- 2159-3930. ; 8:6, s. 1435-1440
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Tidskriftsartikel (refereegranskat)abstract
- Glass-clad, GaSb-core fibers were drawn and subsequently laser annealed. The as-drawn fibers were found to be polycrystalline, possess Sb inclusions, and have oxide contamination concentrations of less than 3 at%. Melting and resolidifying regions in the cores using 10.6 mu m CO2 laser radiation yielded single crystalline zones with enhanced photoluminescence (PL), including the first observation of strong room temperature PL from a crystalline core fiber. Annealed fibers show low values of tensile strain and a bandgap close to that of bulk GaSb.
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| 5. |
- Balgobind, Brian V, et al.
(författare)
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Novel prognostic subgroups in childhood 11q23/MLL-rearranged acute myeloid leukemia : results of an international retrospective study.
- 2009
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Ingår i: Blood. - : American Society of Hematology. - 0006-4971 .- 1528-0020. ; 114:12, s. 2489-2496
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Tidskriftsartikel (refereegranskat)abstract
- Translocations involving chromosome 11q23 frequently occur in pediatric acute myeloid leukemia (AML) and are associated with poor prognosis. In most cases, the MLL gene is involved, and more than 50 translocation partners have been described. Clinical outcome data of the 11q23-rearranged subgroups are scarce because most 11q23 series are too small for meaningful analysis of subgroups, although some studies suggest that patients with t(9;11)(p22;q23) have a more favorable prognosis. We retrospectively collected outcome data of 756 children with 11q23- or MLL-rearranged AML from 11 collaborative groups to identify differences in outcome based on translocation partners. All karyotypes were centrally reviewed before assigning patients to subgroups. The event-free survival of 11q23/MLL-rearranged pediatric AML at 5 years from diagnosis was 44% (+/- 5%), with large differences across subgroups (11% +/- 5% to 92% +/- 5%). Multivariate analysis identified the following subgroups as independent prognostic predictors: t(1;11)(q21;q23) (hazard ratio [HR] = 0.1, P = .004); t(6;11)(q27;q23) (HR = 2.2, P < .001); t(10;11)(p12;q23) (HR = 1.5, P = .005); and t(10;11)(p11.2;q23) (HR = 2.5, P = .005). We could not confirm the favorable prognosis of the t(9;11)(p22;q23) subgroup. We identified large differences in outcome within 11q23/MLL-rearranged pediatric AML and novel subgroups based on translocation partners that independently predict clinical outcome. Screening for these translocation partners is needed for accurate treatment stratification at diagnosis.
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| 6. |
- Coenen, Eva A, et al.
(författare)
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Prognostic significance of additional cytogenetic aberrations in 733 de novo pediatric 11q23/MLL-rearranged AML patients : results of an international study
- 2011
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Ingår i: Blood. - : American Society of Hematology. - 0006-4971 .- 1528-0020. ; 117:26, s. 7102-7111
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Tidskriftsartikel (refereegranskat)abstract
- We previously demonstrated that outcome of pediatric 11q23/MLL-rearranged AML depends on the translocation partner (TP). In this multicenter international study on 733 children with 11q23/MLL-rearranged AML, we further analyzed which additional cytogenetic aberrations (ACA) had prognostic significance. ACAs occurred in 344 (47%) of 733 and were associated with unfavorable outcome (5-year overall survival [OS] 47% vs 62%, P < .001). Trisomy 8, the most frequent specific ACA (n = 130/344, 38%), independently predicted favorable outcome within the ACAs group (OS 61% vs 39%, P = .003; Cox model for OS hazard ratio (HR) 0.54, P = .03), on the basis of reduced relapse rate (26% vs 49%, P < .001). Trisomy 19 (n = 37/344, 11%) independently predicted poor prognosis in ACAs cases, which was partly caused by refractory disease (remission rate 74% vs 89%, P = .04; OS 24% vs 50%, P < .001; HR 1.77, P = .01). Structural ACAs had independent adverse prognostic value for event-free survival (HR 1.36, P = .01). Complex karyotype, defined as ≥ 3 abnormalities, was present in 26% (n = 192/733) and showed worse outcome than those without complex karyotype (OS 45% vs 59%, P = .003) in univariate analysis only. In conclusion, like TP, specific ACAs have independent prognostic significance in pediatric 11q23/MLL-rearranged AML, and the mechanism underlying these prognostic differences should be studied.
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| 7. |
- Gibson, Ursula J., et al.
(författare)
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Future of semiconductor-core optical fibers
- 2018
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Ingår i: Optics InfoBase Conference Papers. - : OSA - The Optical Society. - 9781557528209
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Konferensbidrag (refereegranskat)abstract
- Semiconductor-core optical fibers hold promise for long wavelength transmission systems as well as for nonlinear and active optoelectronic devices. This talk includes a status report on fiber properties and a prospectus of some future directions.
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| 8. |
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| 9. |
- Ren, H., et al.
(författare)
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Nonlinear optical properties of polycrystalline silicon core fibers from telecom wavelengths into the mid-infrared spectral region
- 2019
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Ingår i: Optical Materials Express. - : OPTICAL SOC AMER. - 2159-3930 .- 2159-3930. ; 9:3, s. 1271-1279
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Tidskriftsartikel (refereegranskat)abstract
- Polycrystalline silicon core fibers (SCFs) fabricated via the molten core drawing (MCD) method are emerging as a flexible optoelectronic platform. Here, the optical transmission properties of MCD SCFs that have been tapered down to a few micrometer-sized core dimensions are characterized from the telecom band to the mid-infrared spectal regime. The SCFs exhibit low linear losses on the order of a few dB/cm over the entire wavelength range. Characterization of the two-photon absorption coefficient (beta(TPA)) and nonlinear refractive index (n(2)) of the SCFs reveals values consistent with previous measurements of single crystal silicon materials, indicating the high optical quality of the polysilicon core material. The high nonlinear figure of merit obtained for wavelengths above 2 mu m highlight the potential for these fibers to find application in infrared nonlinear photonics. Published by The Optical Society under the terms of the Creative Commons Attribution 4.0 License.
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| 10. |
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