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- Chase, A., et al.
(författare)
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Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus
- 2015
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Ingår i: Leukemia. - : Springer Science and Business Media LLC. - 0887-6924 .- 1476-5551. ; 29:10, s. 2069-2074
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Tidskriftsartikel (refereegranskat)abstract
- Acquired uniparental disomy (aUPD) is a common finding in myeloid malignancies and typically acts to convert a somatically acquired heterozygous mutation to homozygosity. We sought to identify the target of chromosome 14 aUPD (aUPD14), a recurrent abnormality in myeloid neoplasms and population cohorts of elderly individuals. We identified 29 cases with aUPD14q that defined a minimal affected region (MAR) of 11.2 Mb running from 14q32.12 to the telomere. Exome sequencing (n = 7) did not identify recurrently mutated genes, but methylation-specific PCR at the imprinted MEG3-DLK1 locus located within the MAR demonstrated loss of maternal chromosome 14 and gain of paternal chromosome 14 (P < 0.0001), with the degree of methylation imbalance correlating with the level of aUPD (r = 0.76; P = 0.0001). The absence of driver gene mutations in the exomes of three individuals with aUPD14q but no known haematological disorder suggests that aUPD14q may be sufficient to drive clonal haemopoiesis. Analysis of cases with both aUPD14q and JAK2 V617F (n = 11) indicated that aUPD14q may be an early event in some cases but a late event in others. We conclude that aUPD14q is a recurrent abnormality that targets an imprinted locus and may promote clonal haemopoiesis either as an initiating event or as a secondary change.
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- Antichi, Gianni, et al.
(författare)
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ENDEAVOUR : A Scalable SDN Architecture For Real-World IXPs
- 2017
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Ingår i: IEEE Journal on Selected Areas in Communications. - : Institute of Electrical and Electronics Engineers (IEEE). - 0733-8716 .- 1558-0008. ; 35:11, s. 2553-2562
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Tidskriftsartikel (refereegranskat)abstract
- Innovation in interdomain routing has remained stagnant for over a decade. Recently, Internet eXchange Points (IXPs) have emerged as economically-advantageous interconnection points for reducing path latencies and exchanging ever increasing traffic volumes among, possibly, hundreds of networks. Given their far-reaching implications on interdomain routing, IXPs are the ideal place to foster network innovation and extend the benefits of software defined networking (SDN) to the interdomain level. In this paper, we present, evaluate, and demonstrate ENDEAVOUR, an SDN platform for IXPs. ENDEAVOUR can be deployed on a multi-hop IXP fabric, supports a large number of use cases, and is highly scalable, while avoiding broadcast storms. Our evaluation with real data from one of the largest IXPs, demonstrates the benefits and scalability of our solution: ENDEAVOUR requires around 70% fewer rules than alternative SDN solutions thanks to our rule partitioning mechanism. In addition, by providing an open source solution, we invite everyone from the community to experiment (and improve) our implementation as well as adapt it to new use cases.
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- Bauer, M., et al.
(författare)
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In vivo characterization of the mechanics of human uterine cervices
- 2007
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Ingår i: Reproductive Biomechanics. - : Blackwell Publishing. - 1573316733 - 9781573316736 ; , s. 186-202
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Konferensbidrag (refereegranskat)abstract
- The uterine cervix has to provide mechanical resistance to ensure a normal development of the fetus. This is guaranteed by the composition of its extracellular matrix, which functions as a fiber-reinforced composite. At term a complex remodeling process allows the cervical canal to open for birth. This remodeling is achieved by changes in the quality and quantity of collagen fibers and ground substance and their interplay, which influences the biomechanical behavior of the cervix but also contributes to pathologic conditions such as cervical incompetence (CI). We start by reviewing the anatomy and histological composition of the human cervix, and discuss its physiologic function and pathologic condition in pregnancy including biomechanical aspects. Established diagnostic methods on the cervix (palpation, endovaginal ultrasound) used in clinics as well as methods for assessment of cervical consistency (light-induced fluorescence, electrical current, and impedance) are discussed. We show the first clinical application of an aspiration device, which allows in vivo testing of the biomechanical properties of the cervix with the aim to establish the physiological biomechanical changes throughout gestation and to detect pregnant women at risk for CI. In a pilot study on nonpregnant cervices before and after hysterectomy we found no considerable difference in the biomechanical response between in vivo and ex vivo. An outlook on further clinical applications during pregnancy is presented.
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- Eder, Michaela, et al.
(författare)
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Experimental micromechanical characterisation of wood cell walls
- 2013
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Ingår i: Wood Science and Technology. - : Springer Science and Business Media LLC. - 0043-7719 .- 1432-5225. ; :1, s. 163-182
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Tidskriftsartikel (refereegranskat)abstract
- The properties of wood and wood-based materials are strongly dependent on the properties of the fibres, that is, the cell wall properties. It is thus highly important to be able to mechanically characterise cell walls in order to understand structure-property relationships. This article gives a brief overview of the state of the art in experimental techniques to characterise the mechanical properties of wood at both the level of the single cell and that of the cell wall. Challenges, opportunities, drawbacks and limitations of single fibre tensile tests and nanoindentation are discussed with respect to the wood material properties.
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