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- Dominguez-Valentin, M, et al.
(författare)
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No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study
- 2021
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Ingår i: Journal of clinical medicine. - : MDPI AG. - 2077-0383. ; 10:13
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Tidskriftsartikel (refereegranskat)abstract
- Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences in cancer incidence (penetrance) according to the gene involved have led to the stratification of cancer surveillance. By contrast, any differences in penetrance determined by the type of pathogenic variant remain unknown. Objective. To determine cumulative incidences of cancer in carriers of truncating and missense or aberrant splicing pathogenic variants of the MLH1 and MSH2 genes. Methods. Carriers of pathogenic variants of MLH1 (path_MLH1) and MSH2 (path_MSH2) genes filed in the Prospective Lynch Syndrome Database (PLSD) were categorized as truncating or missense/aberrant splicing according to the InSiGHT criteria for pathogenicity. Results. Among 5199 carriers, 1045 had missense or aberrant splicing variants, and 3930 had truncating variants. Prospective observation years for the two groups were 8205 and 34,141 years, respectively, after which there were no significant differences in incidences for cancer overall or for colorectal cancer or endometrial cancers separately. Conclusion. Truncating and missense or aberrant splicing pathogenic variants were associated with similar average cumulative incidences of cancer in carriers of path MLH1 and path_MSH2.
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- Yoo, S. J. B., et al.
(författare)
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Spectral phase encoded time spread optical code division multiple access technology for next generation communication networks Invited
- 2007
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Ingår i: Journal of Optical Networking. - 1536-5379. ; 6:10, s. 1210-1227
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Tidskriftsartikel (refereegranskat)abstract
- We overview and summarize the progress of the spectral phase encoded time spreading (SPECTS) optical code division multiple access (O-CDMA) technology. Recent progress included a demonstration of a 320 Gbit/s (32-user x 10 Gbit/s) all-optical passive optical network testbed based on the SPECTS O-CDMA technology and a theoretical prediction of the spectral efficiency at 100% and above. In particular, InP-based integrated photonics allows implementation of SPECTS O-CDMA transmitters and receivers monolithically integrated on a chip. The integrated InP chip technology not only allows robust and compact configurations for practical and low-cost O-CDMA network deployments but also offers code reconfigurations at rapid rates for secure communication applications.
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- Hanna, E., et al.
(författare)
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Short- and long-term variability of the Antarctic and Greenland ice sheets
- 2024
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Ingår i: Nature Reviews Earth & Environment. - : Springer Nature. - 2662-138X. ; 5, s. 193-210
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Forskningsöversikt (refereegranskat)abstract
- The variability of the Antarctic and Greenland ice sheets occurs on various timescales and is important for projections of sea level rise; however, there are substantial uncertainties concerning future ice-sheet mass changes. In this Review, we explore the degree to which short-term fluctuations and extreme glaciological events reflect the ice sheets’ long-term evolution and response to ongoing climate change. Short-term (decadal or shorter) variations in atmospheric or oceanic conditions can trigger amplifying feedbacks that increase the sensitivity of ice sheets to climate change. For example, variability in ocean-induced and atmosphere-induced melting can trigger ice thinning, retreat and/or collapse of ice shelves, grounding-line retreat, and ice flow acceleration. The Antarctic Ice Sheet is especially prone to increased melting and ice sheet collapse from warm ocean currents, which could be accentuated with increased climate variability. In Greenland both high and low melt anomalies have been observed since 2012, highlighting the influence of increased interannual climate variability on extreme glaciological events and ice sheet evolution. Failing to adequately account for such variability can result in biased projections of multi-decadal ice mass loss. Therefore, future research should aim to improve climate and ocean observations and models, and develop sophisticated ice sheet models that are directly constrained by observational records and can capture ice dynamical changes across various timescales.
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