| 1. |
- Walters, R G, et al.
(author)
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A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.
- 2010
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In: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 463:7281, s. 671-5
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Journal article (peer-reviewed)abstract
- Obesity has become a major worldwide challenge to public health, owing to an interaction between the Western 'obesogenic' environment and a strong genetic contribution. Recent extensive genome-wide association studies (GWASs) have identified numerous single nucleotide polymorphisms associated with obesity, but these loci together account for only a small fraction of the known heritable component. Thus, the 'common disease, common variant' hypothesis is increasingly coming under challenge. Here we report a highly penetrant form of obesity, initially observed in 31 subjects who were heterozygous for deletions of at least 593 kilobases at 16p11.2 and whose ascertainment included cognitive deficits. Nineteen similar deletions were identified from GWAS data in 16,053 individuals from eight European cohorts. These deletions were absent from healthy non-obese controls and accounted for 0.7% of our morbid obesity cases (body mass index (BMI) >or= 40 kg m(-2) or BMI standard deviation score >or= 4; P = 6.4 x 10(-8), odds ratio 43.0), demonstrating the potential importance in common disease of rare variants with strong effects. This highlights a promising strategy for identifying missing heritability in obesity and other complex traits: cohorts with extreme phenotypes are likely to be enriched for rare variants, thereby improving power for their discovery. Subsequent analysis of the loci so identified may well reveal additional rare variants that further contribute to the missing heritability, as recently reported for SIM1 (ref. 3). The most productive approach may therefore be to combine the 'power of the extreme' in small, well-phenotyped cohorts, with targeted follow-up in case-control and population cohorts.
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| 2. |
- Sygletos, S., et al.
(author)
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Phase locking and carrier extraction schemes for phase sensitive amplification
- 2010
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In: 2010 12th International Conference on Transparent Optical Networks, ICTON 2010. - 9781424477975
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Conference paper (other academic/artistic)abstract
- We demonstrate two schemes which enable simultaneous phase locking, carrier extraction and frequency shifting for use in stand-alone phase sensitive amplifiers. The schemes provide phase locked pumps at appropriate frequency spacing for a number of non-degenerate PSA configurations. © 2010 IEEE.
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| 3. |
- Van Deerlin, Vivian M, et al.
(author)
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Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
- 2010
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:3, s. 234-239
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Journal article (peer-reviewed)abstract
- Frontotemporal lobar degeneration (FTLD) is the second most common cause of presenile dementia. The predominant neuropathology is FTLD with TAR DNA-binding protein (TDP-43) inclusions (FTLD-TDP). FTLD-TDP is frequently familial, resulting from mutations in GRN (which encodes progranulin). We assembled an international collaboration to identify susceptibility loci for FTLD-TDP through a genome-wide association study of 515 individuals with FTLD-TDP. We found that FTLD-TDP associates with multiple SNPs mapping to a single linkage disequilibrium block on 7p21 that contains TMEM106B. Three SNPs retained genome-wide significance following Bonferroni correction (top SNP rs1990622, P = 1.08 x 10(-11); odds ratio, minor allele (C) 0.61, 95% CI 0.53-0.71). The association replicated in 89 FTLD-TDP cases (rs1990622; P = 2 x 10(-4)). TMEM106B variants may confer risk of FTLD-TDP by increasing TMEM106B expression. TMEM106B variants also contribute to genetic risk for FTLD-TDP in individuals with mutations in GRN. Our data implicate variants in TMEM106B as a strong risk factor for FTLD-TDP, suggesting an underlying pathogenic mechanism.
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| 4. |
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| 5. |
- Ellis, A. D., et al.
(author)
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Future Directions to Realize Ultra-High Bit-Rate Transmission Systems
- 2010
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In: Proceedings of OptoElectronics and Communications Conference, OECC 2010, Sapporo, Japan, 5-9 July 2010, invited paper..
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Conference paper (other academic/artistic)abstract
- In this paper we examine two potential future directions for the realization of ultra-high bit rate transmission systems.
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| 6. |
- Parmigiani, Francesca, et al.
(author)
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All-Optical Phase Regeneration of 40Gbit/s DPSK Signals in a Black‐Box Phase Sensitive Amplifier
- 2010
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In: 2010 Conference on Optical Fiber Communication, Collocated National Fiber Optic Engineers Conference, OFC/NFOEC 2010; San Diego, CA; United States; 21 March 2010 through 25 March 2010. - 9781557528841 ; , s. PDPC3-
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Conference paper (peer-reviewed)abstract
- We present a black‐box four wave mixingbased bit‐rate‐flexible phase sensitive amplifier and use it in the first demonstration of 40 Gbit/s DPSK phaseregeneration.
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| 7. |
- Slavík, Radan, et al.
(author)
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All-optical phase and amplitude regenerator for next-generation telecommunications systems
- 2010
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In: Nature Photonics. - 1749-4885 .- 1749-4893. ; 4:10, s. 690-695
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Journal article (peer-reviewed)abstract
- Fibre-optic communications systems have traditionally carried data using binary (on-off) encoding of the light amplitude. However, next-generation systems will use both the amplitude and phase of the optical carrier to achieve higher spectral efficiencies and thus higher overall data capacities. Although this approach requires highly complex transmitters and receivers, the increased capacity and many further practical benefits that accrue from a full knowledge of the amplitude and phase of the optical field more than outweigh this additional hardware complexity and can greatly simplify optical network design. However, use of the complex optical field gives rise to a new dominant limitation to system performance—nonlinear phase noise. Developing a device to remove this noise is therefore of great technical importance. Here, we report the development of the first practical (‘black-box’) all-optical regenerator capableof removing both phase and amplitude noise from binary phase-encoded optical communications signals.
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| 8. |
- Olsson, Samuel L I, 1984, et al.
(author)
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Injection locking-based pump recovery for phase-sensitive amplified links
- 2013
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In: Optics Express. - : The Optical Society. - 1094-4087 .- 1094-4087. ; 21:12, s. 14512-14529
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Journal article (peer-reviewed)abstract
- An injection locking-based pump recovery system for phase-sensitive amplified links, capable of handling 40 dB effective span loss, is demonstrated. Measurements with 10 GBd DQPSK signals show penalty-free recovery of a pump wave, phase modulated with two sinusoidal RF-tones at 0.1 GHz and 0.3 GHz, with 64 dB amplification. The operating power limit for the pump recovery system is experimentally investigated and is governed by the noise transfer and phase modulation transfer characteristics of the injection-locked laser. The corresponding link penalties are explained and quantified. This system enables, for the first time, WDM compatible phase-sensitive amplified links over significant lengths.
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| 9. |
- Olsson, Samuel L I, 1984, et al.
(author)
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Optical Injection-Locking-Based Pump Recovery for Phase-Sensitively Amplified Links
- 2012
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In: Optics InfoBase Conference Papers. - Washington, D.C. : OSA. - 2162-2701. - 9781467302623 ; , s. Art. no. 6192145-
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Conference paper (peer-reviewed)abstract
- An injection-locking-based pump recovery system for phase-sensitively amplified links is proposed and studied experimentally. Measurements with 10 Gbaud DQPSK signals show penalty-free recovery of 0.8 GHz FWHM bandwidth pump with 63 dB overall amplification.
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| 10. |
- Schunkert, Heribert, et al.
(author)
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Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
- 2011
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 43:4, s. 153-333
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Journal article (peer-reviewed)abstract
- We performed a meta-analysis of 14 genome-wide association studies of coronary artery disease (CAD) comprising 22,233 individuals with CAD (cases) and 64,762 controls of European descent followed by genotyping of top association signals in 56,682 additional individuals. This analysis identified 13 loci newly associated with CAD at P < 5 x 10(-8) and confirmed the association of 10 of 12 previously reported CAD loci. The 13 new loci showed risk allele frequencies ranging from 0.13 to 0.91 and were associated with a 6% to 17% increase in the risk of CAD per allele. Notably, only three of the new loci showed significant association with traditional CAD risk factors and the majority lie in gene regions not previously implicated in the pathogenesis of CAD. Finally, five of the new CAD risk loci appear to have pleiotropic effects, showing strong association with various other human diseases or traits.
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| 11. |
- Ban, Nenad, et al.
(author)
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A new system for naming ribosomal proteins.
- 2014
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In: Current Opinion in Structural Biology. - : Elsevier BV. - 1879-033X .- 0959-440X. ; 24, s. 165-169
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Journal article (peer-reviewed)abstract
- A system for naming ribosomal proteins is described that the authors intend to use in the future. They urge others to adopt it. The objective is to eliminate the confusion caused by the assignment of identical names to ribosomal proteins from different species that are unrelated in structure and function. In the system proposed here, homologous ribosomal proteins are assigned the same name, regardless of species. It is designed so that new names are similar enough to old names to be easily recognized, but are written in a format that unambiguously identifies them as 'new system' names.
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| 12. |
- Lu, Guo-Wei, 1976, et al.
(author)
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40-Gbaud 16-QAM transmitter using tandem IQ modulators with binary driving electronic signals
- 2010
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In: Optics Express. - 1094-4087 .- 1094-4087. ; 18:22, s. 23062-23069
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Journal article (peer-reviewed)abstract
- We propose a novel 16-quadrature amplitude modulation (QAM) transmitter based on two cascaded IQ modulators driven by four separate binary electrical signals. The proposed 16-QAM transmitter features scalable configuration and stable performance with simple bias-control. Generation of 16-QAM signals at 40 Gbaud is experimentally demonstrated for the first time and visualized with a high speed constellation analyzer. The proposed modulator is also compared to two other schemes. We investigate the modulator bandwidth requirements and tolerance to accumulated chromatic dispersion through numerical simulations, and the minimum theoretical insertion attenuation is calculated analytically.
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