| 1. |
- Elsik, Christine G., et al.
(författare)
-
The Genome Sequence of Taurine Cattle : A Window to Ruminant Biology and Evolution
- 2009
-
Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 324:5926, s. 522-528
-
Tidskriftsartikel (refereegranskat)abstract
- To understand the biology and evolution of ruminants, the cattle genome was sequenced to about sevenfold coverage. The cattle genome contains a minimum of 22,000 genes, with a core set of 14,345 orthologs shared among seven mammalian species of which 1217 are absent or undetected in noneutherian (marsupial or monotreme) genomes. Cattle-specific evolutionary breakpoint regions in chromosomes have a higher density of segmental duplications, enrichment of repetitive elements, and species-specific variations in genes associated with lactation and immune responsiveness. Genes involved in metabolism are generally highly conserved, although five metabolic genes are deleted or extensively diverged from their human orthologs. The cattle genome sequence thus provides a resource for understanding mammalian evolution and accelerating livestock genetic improvement for milk and meat production.
|
|
| 2. |
- Gaulton, Kyle J, et al.
(författare)
-
Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci.
- 2015
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 47:12, s. 1415-1415
-
Tidskriftsartikel (refereegranskat)abstract
- We performed fine mapping of 39 established type 2 diabetes (T2D) loci in 27,206 cases and 57,574 controls of European ancestry. We identified 49 distinct association signals at these loci, including five mapping in or near KCNQ1. 'Credible sets' of the variants most likely to drive each distinct signal mapped predominantly to noncoding sequence, implying that association with T2D is mediated through gene regulation. Credible set variants were enriched for overlap with FOXA2 chromatin immunoprecipitation binding sites in human islet and liver cells, including at MTNR1B, where fine mapping implicated rs10830963 as driving T2D association. We confirmed that the T2D risk allele for this SNP increases FOXA2-bound enhancer activity in islet- and liver-derived cells. We observed allele-specific differences in NEUROD1 binding in islet-derived cells, consistent with evidence that the T2D risk allele increases islet MTNR1B expression. Our study demonstrates how integration of genetic and genomic information can define molecular mechanisms through which variants underlying association signals exert their effects on disease.
|
|
| 3. |
- Scott, Robert A., et al.
(författare)
-
An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans
- 2017
-
Ingår i: Diabetes. - : American Diabetes Association. - 0012-1797 .- 1939-327X. ; 66:11, s. 2888-2902
-
Tidskriftsartikel (refereegranskat)abstract
- To characterize type 2 diabetes (T2D)-associated variation across the allele frequency spectrum, we conducted a meta-analysis of genome-wide association data from 26,676 T2D case and 132,532 control subjects of European ancestry after imputation using the 1000 Genomes multiethnic reference panel. Promising association signals were followed up in additional data sets (of 14,545 or 7,397 T2D case and 38,994 or 71,604 control subjects). We identified 13 novel T2D-associated loci (P < 5 x 10(-8)), including variants near the GLP2R, GIP, and HLA-DQA1 genes. Our analysis brought the total number of independent T2D associations to 128 distinct signals at 113 loci. Despite substantially increased sample size and more complete coverage of low-frequency variation, all novel associations were driven by common single nucleotide variants. Credible sets of potentially causal variants were generally larger than those based on imputation with earlier reference panels, consistent with resolution of causal signals to common risk haplotypes. Stratification of T2D-associated loci based on T2D-related quantitative trait associations revealed tissue-specific enrichment of regulatory annotations in pancreatic islet enhancers for loci influencing insulin secretion and in adipocytes, monocytes, and hepatocytes for insulin action-associated loci. These findings highlight the predominant role played by common variants of modest effect and the diversity of biological mechanisms influencing T2D pathophysiology.
|
|
| 4. |
- Damas, Joana, et al.
(författare)
-
Evolution of the ancestral mammalian karyotype and syntenic regions
- 2022
-
Ingår i: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences (PNAS). - 0027-8424 .- 1091-6490. ; 119:40
-
Tidskriftsartikel (refereegranskat)abstract
- Decrypting the rearrangements that drive mammalian chromosome evolution is critical to understanding the molecular bases of speciation, adaptation, and disease susceptibility. Using 8 scaffolded and 26 chromosome-scale genome assemblies representing 23/26 mammal orders, we computationally reconstructed ancestral karyotypes and syntenic relationships at 16 nodes along the mammalian phylogeny. Three different reference genomes (human, sloth, and cattle) representing phylogenetically distinct mammalian superorders were used to assess reference bias in the reconstructed ancestral karyotypes and to expand the number of clades with reconstructed genomes. The mammalian ancestor likely had 19 pairs of autosomes, with nine of the smallest chromosomes shared with the common ancestor of all amniotes (three still conserved in extant mammals), demonstrating a striking conservation of synteny for similar to 320My of vertebrate evolution. The numbers and types of chromosome rearrangements were classified for transitions between the ancestral mammalian karyotype, descendent ancestors, and extant species. For example, 94 inversions, 16 fissions, and 14 fusions that occurred over 53 My differentiated the therian from the descendent eutherian ancestor. The highest breakpoint rate was observed between the mammalian and therian ancestors (3.9 breakpoints/My). Reconstructed mammalian ancestor chromosomes were found to have distinct evolutionary histories reflected in their rates and types of rearrangements. The distributions of genes, repetitive elements, topologically associating domains, and actively transcribed regions in multispecies homologous synteny blocks and evolutionary breakpoint regions indicate that purifying selection acted over millions of years of vertebrate evolution to maintain syntenic relationships of developmentally important genes and regulatory landscapes of gene-dense chromosomes.
|
|
| 5. |
- Dobbins, Sara E., et al.
(författare)
-
Common variation at 10p12.31 near MLLT10 influences meningioma risk
- 2011
-
Ingår i: Nature Genetics. - London : Nature America, Inc.. - 1061-4036 .- 1546-1718. ; 43:9, s. 825-827
-
Tidskriftsartikel (refereegranskat)abstract
- To identify susceptibility loci for meningioma, we conducted a genome-wide association study of 859 affected individuals (cases) and 704 controls with validation in two independent sample sets totaling 774 cases and 1,764 controls. We identified a new susceptibility locus for meningioma at 10p12.31 (MLLT10, rs11012732, odds ratio = 1.46, P(combined) = 1.88 x 10(-14)). This finding advances our understanding of the genetic basis of meningioma development.
|
|
| 6. |
- Ikram, M. Arfan, et al.
(författare)
-
Common variants at 6q22 and 17q21 are associated with intracranial volume
- 2012
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:5, s. 539-544
-
Tidskriftsartikel (refereegranskat)abstract
- During aging, intracranial volume remains unchanged and represents maximally attained brain size, while various interacting biological phenomena lead to brain volume loss. Consequently, intracranial volume and brain volume in late life reflect different genetic influences. Our genome-wide association study (GWAS) in 8,175 community-dwelling elderly persons did not reveal any associations at genome-wide significance (P < 5 x 10(-8)) for brain volume. In contrast, intracranial volume was significantly associated with two loci: rs4273712 (P = 3.4 x 10(-11)), a known height-associated locus on chromosome 6q22, and rs9915547 (P = 1.5 x 10(-12)), localized to the inversion on chromosome 17q21. We replicated the associations of these loci with intracranial volume in a separate sample of 1,752 elderly persons (P = 1.1 x 10(-3) for 6q22 and 1.2 x 10(-3) for 17q21). Furthermore, we also found suggestive associations of the 17q21 locus with head circumference in 10,768 children (mean age of 14.5 months). Our data identify two loci associated with head size, with the inversion at 17q21 also likely to be involved in attaining maximal brain size.
|
|
| 7. |
- Ried, Janina S., et al.
(författare)
-
A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape
- 2016
-
Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
-
Tidskriftsartikel (refereegranskat)abstract
- Large consortia have revealed hundreds of genetic loci associated with anthropometric traits, one trait at a time. We examined whether genetic variants affect body shape as a composite phenotype that is represented by a combination of anthropometric traits. We developed an approach that calculates averaged PCs (AvPCs) representing body shape derived from six anthropometric traits (body mass index, height, weight, waist and hip circumference, waist-to-hip ratio). The first four AvPCs explain >99% of the variability, are heritable, and associate with cardiometabolic outcomes. We performed genome-wide association analyses for each body shape composite phenotype across 65 studies and meta-analysed summary statistics. We identify six novel loci: LEMD2 and CD47 for AvPC1, RPS6KA5/C14orf159 and GANAB for AvPC3, and ARL15 and ANP32 for AvPC4. Our findings highlight the value of using multiple traits to define complex phenotypes for discovery, which are not captured by single-trait analyses, and may shed light onto new pathways.
|
|
| 8. |
- Taal, H. Rob, et al.
(författare)
-
Common variants at 12q15 and 12q24 are associated with infant head circumference
- 2012
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:5, s. 532-538
-
Tidskriftsartikel (refereegranskat)abstract
- To identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies (GWAS) (N = 10,768 individuals of European ancestry enrolled in pregnancy and/or birth cohorts) and followed up three lead signals in six replication studies (combined N = 19,089). rs7980687 on chromosome 12q24 (P = 8.1 x 10(-9)) and rs1042725 on chromosome 12q15 (P = 2.8 x 10(-10)) were robustly associated with head circumference in infancy. Although these loci have previously been associated with adult height(1), their effects on infant head circumference were largely independent of height (P = 3.8 x 10(-7) for rs7980687 and P = 1.3 x 10(-7) for rs1042725 after adjustment for infant height). A third signal, rs11655470 on chromosome 17q21, showed suggestive evidence of association with head circumference (P = 3.9 x 10(-6)). SNPs correlated to the 17q21 signal have shown genome-wide association with adult intracranial volume(2), Parkinson's disease and other neurodegenerative diseases(3-5), indicating that a common genetic variant in this region might link early brain growth with neurological disease in later life.
|
|
| 9. |
- Wang, Xiaofeng, et al.
(författare)
-
Evidence for type ia supernova diversity from ultraviolet observations with the hubble space telescope
- 2012
-
Ingår i: Astrophysical Journal. - 0004-637X .- 1538-4357. ; 749:2, s. 126-
-
Tidskriftsartikel (refereegranskat)abstract
- We present ultraviolet (UV) spectroscopy and photometry of four Type Ia supernovae (SNe 2004dt, 2004ef, 2005M, and 2005cf) obtained with the UV prism of the Advanced Camera for Surveys on the Hubble Space Telescope. This data set provides unique spectral time series down to 2000 angstrom. Significant diversity is seen in the near-maximum-light spectra (similar to 2000-3500 angstrom) for this small sample. The corresponding photometric data, together with archival data from Swift Ultraviolet/Optical Telescope observations, provide further evidence of increased dispersion in the UV emission with respect to the optical. The peak luminositiesmeasured in the uvw1/F250W filter are found to correlate with the B-band light-curve shape parameter Delta m(15)(B), but with much larger scatter relative to the correlation in the broadband B band (e.g., similar to 0.4 mag versus similar to 0.2 mag for those with 0.8 mag < Delta m(15)(B) < 1.7 mag). SN 2004dt is found as an outlier of this correlation (at > 3 sigma), being brighter than normal SNe Ia such as SN 2005cf by similar to 0.9 mag and similar to 2.0 mag in the uvw1/F250W and uvm2/F220W filters, respectively. We show that different progenitor metallicity or line-expansion velocities alone cannot explain such a large discrepancy. Viewing-angle effects, such as due to an asymmetric explosion, may have a significant influence on the flux emitted in the UV region. Detailed modeling is needed to disentangle and quantify the above effects.
|
|
| 10. |
- Ainsworth, Elizabeth A., et al.
(författare)
-
Next generation of elevated [CO2] experiments with crops: a critical investment for feeding the future world
- 2008
-
Ingår i: Plant, Cell and Environment. - : Wiley. - 0140-7791 .- 1365-3040. ; 31:9, s. 1317-1324
-
Tidskriftsartikel (refereegranskat)abstract
- A rising global population and demand for protein-rich diets are increasing pressure to maximize agricultural productivity. Rising atmospheric [CO2] is altering global temperature and precipitation patterns, which challenges agricultural productivity. While rising [CO2] provides a unique opportunity to increase the productivity of C-3 crops, average yield stimulation observed to date is well below potential gains. Thus, there is room for improving productivity. However, only a fraction of available germplasm of crops has been tested for CO2 responsiveness. Yield is a complex phenotypic trait determined by the interactions of a genotype with the environment. Selection of promising genotypes and characterization of response mechanisms will only be effective if crop improvement and systems biology approaches are closely linked to production environments, that is, on the farm within major growing regions. Free air CO2 enrichment (FACE) experiments can provide the platform upon which to conduct genetic screening and elucidate the inheritance and mechanisms that underlie genotypic differences in productivity under elevated [CO2]. We propose a new generation of large-scale, low-cost per unit area FACE experiments to identify the most CO2-responsive genotypes and provide starting lines for future breeding programmes. This is necessary if we are to realize the potential for yield gains in the future.
|
|
| 11. |
- Aval, Omid, et al.
(författare)
-
Micro-strip circuit for loss reduction
- 2003
-
Patent (övrigt vetenskapligt/konstnärligt)abstract
- A printed circuit (1) on a lossy substrate (2) has been provided whereby intermediate structures (11, 12, 17, 18) under the top layer strips (5) have been formed having a width being (d2) smaller than the width (w) of the strip. The intermediate structures (11, 12, 17, 18) are particular well suited for inductors (9) on silicon substrates and result in a considerable increase in the Q-factor of the inductor at microwave frequencies
|
|
| 12. |
- Bergstedt, Leif, et al.
(författare)
-
Antenna arrangement and a communication arrangement comprising the same
- 2002
-
Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- The present invention relates an antenna arrangement (23, 330, 430, 530, 630) comprising a fit layer (331, 431, 531, 631) consisting of a dielectric material and a second reflective layer (335, 435, 535, 640, The dielectric material has variable dielectric characteristics. An electromagnetic radiation (50) passing through said first layer (331, 431, 531, 631) and at least partly reflected by said second layer (335, 435, 535, 640) is modulated by varying said variable dielectric characteristics of said first layer.
|
|
| 13. |
- Bolívar Caballero, José Juan, et al.
(författare)
-
Advanced application of a geometry-enhanced 3D-printed catalytic reformer for syngas production
- 2023
-
Ingår i: Energy Conversion and Management. - : Elsevier BV. - 0196-8904 .- 1879-2227. ; 287
-
Tidskriftsartikel (refereegranskat)abstract
- Catalyst research on reforming processes for syngas production has mainly focused on the active metals and support materials, while the effect of the catalyst's geometry on the reforming reactions has been poorly studied. The application of 3D-printed materials with enhanced geometries has recently started to be studied in heterogeneous catalysis and is of interest to be implemented for reforming biomass and plastic waste to produce H2-rich syngas. In this study, a geometry-enhanced 3D-printed Ni/Al2O3/FeCrAl-based monolithic catalyst with a periodic open cellular structure (POCS) was designed and fabricated. The catalyst was used for batch steam reforming biomass pyrolysis volatiles for syngas production at different parameters (temperature and steam-to-carbon ratio). The results showed complete reforming of pyrolysis volatiles in all experimental cases, a high H2 yield of ≈ 7.6 wt% of biomass was obtained at the optimized steam-to-carbon ratio of 8 and a reforming temperature of 800 °C, which is a higher yield compared to other batch reforming tests reported in the literature. Moreover, CFD simulation results in COMSOL Multiphysics demonstrated that the POCS configuration improves the reforming of pyrolysis volatiles for tar/bio-oil reforming and H2 production thanks to enhanced mass and heat transfer properties compared to the regular monolithic single-channel configuration.
|
|
| 14. |
- Calfapietra, Carlo, et al.
(författare)
-
Challenges in elevated CO2 experiments on forests
- 2010
-
Ingår i: Trends in Plant Science. - : Elsevier BV. - 1360-1385. ; 15:1, s. 5-10
-
Forskningsöversikt (refereegranskat)abstract
- Current forest Free Air CO2 Enrichment (FACE) experiments are reaching completion. Therefore, it is time to define the scientific goals and priorities of future experimental facilities. In this opinion article, we discuss the following three overarching issues (i) What are the most urgent scientific questions and how can they be addressed? (ii) What forest ecosystems should be investigated? (iii) Which other climate change factors should be coupled with elevated CO2 concentrations in future experiments to better predict the effects of climate change? Plantations and natural forests can have conflicting purposes for high productivity and environmental protection. However, in both cases the assessment of carbon balance and how this will be affected by elevated CO2 concentrations and the interacting climate change factors is the most pressing priority for future experiments.
|
|
| 15. |
- Chubb, Daniel, et al.
(författare)
-
Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk
- 2013
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 45:10, s. 366-1221
-
Tidskriftsartikel (refereegranskat)abstract
- To identify variants for multiple myeloma risk, we conducted a genome-wide association study with validation in additional series totaling 4,692 individuals with multiple myeloma (cases) and 10,990 controls. We identified four risk loci at 3q26.2 (rs10936599, P = 8.70 x 10(-14)), 6p21.33 (rs2285803, PSORS1C2, P = 9.67 x 10(-11)), 17p11.2 (rs4273077, TNFRSF13B, P = 7.67 x 10(-9)) and 22q13.1 (rs877529, CBX7, P = 7.63 x 10(-16)). These data provide further evidence for genetic susceptibility to this B-cell hematological malignancy, as well as insight into the biological basis of predisposition.
|
|
| 16. |
- Dussex, Nicolas, et al.
(författare)
-
Population genomics of the critically endangered kākāpō
- 2021
-
Ingår i: Cell Genomics. - : Elsevier BV. - 2666-979X. ; 1:1
-
Tidskriftsartikel (refereegranskat)abstract
- Summary The kākāpō is a flightless parrot endemic to New Zealand. Once common in the archipelago, only 201 individuals remain today, most of them descending from an isolated island population. We report the first genome-wide analyses of the species, including a high-quality genome assembly for kākāpō, one of the first chromosome-level reference genomes sequenced by the Vertebrate Genomes Project (VGP). We also sequenced and analyzed 35 modern genomes from the sole surviving island population and 14 genomes from the extinct mainland population. While theory suggests that such a small population is likely to have accumulated deleterious mutations through genetic drift, our analyses on the impact of the long-term small population size in kākāpō indicate that present-day island kākāpō have a reduced number of harmful mutations compared to mainland individuals. We hypothesize that this reduced mutational load is due to the island population having been subjected to a combination of genetic drift and purging of deleterious mutations, through increased inbreeding and purifying selection, since its isolation from the mainland ∼10,000 years ago. Our results provide evidence that small populations can survive even when isolated for hundreds of generations. This work provides key insights into kākāpō breeding and recovery and more generally into the application of genetic tools in conservation efforts for endangered species.
|
|
| 17. |
- Felix, Janine F, et al.
(författare)
-
Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index.
- 2016
-
Ingår i: Human molecular genetics. - : Oxford University Press (OUP). - 1460-2083 .- 0964-6906. ; 25:2, s. 389-403
-
Tidskriftsartikel (refereegranskat)abstract
- A large number of genetic loci are associated with adult body mass index. However, the genetics of childhood body mass index are largely unknown. We performed a meta-analysis of genome-wide association studies of childhood body mass index, using sex- and age-adjusted standard deviation scores. We included 35 668 children from 20 studies in the discovery phase and 11 873 children from 13 studies in the replication phase. In total, 15 loci reached genome-wide significance (P-value < 5 × 10(-8)) in the joint discovery and replication analysis, of which 12 are previously identified loci in or close to ADCY3, GNPDA2, TMEM18, SEC16B, FAIM2, FTO, TFAP2B, TNNI3K, MC4R, GPR61, LMX1B and OLFM4 associated with adult body mass index or childhood obesity. We identified three novel loci: rs13253111 near ELP3, rs8092503 near RAB27B and rs13387838 near ADAM23. Per additional risk allele, body mass index increased 0.04 Standard Deviation Score (SDS) [Standard Error (SE) 0.007], 0.05 SDS (SE 0.008) and 0.14 SDS (SE 0.025), for rs13253111, rs8092503 and rs13387838, respectively. A genetic risk score combining all 15 SNPs showed that each additional average risk allele was associated with a 0.073 SDS (SE 0.011, P-value = 3.12 × 10(-10)) increase in childhood body mass index in a population of 1955 children. This risk score explained 2% of the variance in childhood body mass index. This study highlights the shared genetic background between childhood and adult body mass index and adds three novel loci. These loci likely represent age-related differences in strength of the associations with body mass index.
|
|
| 18. |
- Gevorgian, Spartak, 1948, et al.
(författare)
-
Capacitance arrangement and method relating thereto
- 2011
-
Patent (övrigt vetenskapligt/konstnärligt)abstract
- A capacitance arrangement comprising at least one parallel-plate capacitor comprising a first electrode means, a dielectric layer and a second electrode means partly overlapping each other. A misalignment limit is given. Said first electrode means comprises a first and a second electrode arranged symmetrically with respect to a longitudinal axis, said first and second electrodes have a respective first edge, which face each other, are linear and parallel such that a gap is defined there between. Said second electrode means comprises a third electrode with a first section and a second section disposed on opposite sides of said gap interconnected by means of an intermediate section, which is delimited by a function depending on a first parameter and a second parameter. One of said two parameters is adapted to be selected hence allowing calculation of the other parameter to determine the shape and size of the second electrode means
|
|
| 19. |
- Gevorgian, Spartak, 1948, et al.
(författare)
-
Capacitor
- 2007
-
Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- A method of creating a capacitor in an integrated circuit. According to a basic version of the invention the capacitor uses intensive fringing fields to create a capacitance. This is achieved by creating a capacitor with vertical overlapping conducting electrodes between two planes of the integrated circuit, instead of plates parallel to the planes. A capacitor according to the invention can additionally comprise horizontal, i.e. parallel plates. A capacitor according the method is also disclosed
|
|
| 20. |
- Gevorgian, Spartak, 1948, et al.
(författare)
-
Tunable microwave arrangements
- 2014
-
Patent (övrigt vetenskapligt/konstnärligt)abstract
- The present invention relates to a tunable microwave arrangement (100) comprising a waveguide arrangement and tuning elements comprising a number of varactors for tuning an electromagnetic signal input to the waveguide arrangement. It comprises a substrate (1), a layered structure (20) comprising at least two conducting layers (2,3) and at least one dielectric layer (4) which are arranged in an alternating manner. The layered structure is arranged on the substrate (1) such that a first of said conducting layers (2) is closest to the substrate (1). It also comprises at least one surface mounted waveguide (5), a second of the conducting layers (3), most distant from the substrate, being adapted to form a wall of the surface mounted waveguide (5), which wall incorporates said tuning elements which are arranged to enable control of surface currents generated in said wall, hence loading the waveguide (5) with a tunable, controllable impedance.
|
|
| 21. |
- Gevorgian, Spartak, 1948, et al.
(författare)
-
Tunable Microwave Arrangements
- 2007
-
Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- The present invention relates to a tunable microwave arrangement (10) comprising a microwave/integrated circuit device (11) and a substrate (6). It comprises a layered structure disposed between said microwave/integrated circuit device and said substrate (5), said layered structure acting as a ground plane and it comprises at least one regularly or irregularly patterned first metal layer (1), at least one second metal layer (3), at least one tunable ferroelectric film layer (2), whereby said layers are so arranged that the ferroelectric film layers) (2) is/are provided between the/a first metal layer (1) and the/a second metal layer (3).
|
|
| 22. |
- Gevorgian, Spartak, 1948, et al.
(författare)
-
Tuneable resonator
- 2009
-
Patent (övrigt vetenskapligt/konstnärligt)abstract
- The invention discloses a tuneable resonator (100, 200, 300, 500, 600, 700, 900) with a substrate layer (140, 260, 360, 560, 660, 960), which substrate layer supports a structure with a first electrode (130, 240, 350, 550, 650). In connection to the first electrode there is arranged a layer (120, 230, 330, 530, 630, 930) of a material which can be brought to resonate. The resonator further comprises a second electrode (110, 210, 310, 510, 610, 710, 910) arranged in connection to said material which can be brought to resonate, and the material which can be brought to resonate is a ferroelectric material. The ferroelectric material is brought into resonance by applying an electrical field (DC, AC) between t
|
|
| 23. |
- Gevorgian, Spartak, 1948, et al.
(författare)
-
Varactor device with reduced temperature dependence
- 2010
-
Patent (övrigt vetenskapligt/konstnärligt)abstract
- he invention discloses a varactor device (100) for improved temperature stability, comprising a first varactor (160) connected to a decoupling network (150). The device further comprises a voltage stabilizer (110), said stabilizer comprising a capacitor (140) and a temperature dependent capacitor (130), and in that the stabilizer comprises means for connection to a DC-feed (120). Suitably, the decoupling network (150) is connected in parallel to the first varactor (160), and the capacitor (140) of the voltage stabilizer (110) is connected in parallel to the decoupling network (150), the temperature dependent capacitor (130) of the voltage stabilizer (110) being connected in series to the diode of the voltage stabilizer (110).
|
|
| 24. |
- Gevorgian, Spartak, 1948, et al.
(författare)
-
Varactor Device with Reduced Temperature Dependence.
- 2009
-
Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- he invention discloses a varactor device (100) for improved temperature stability, comprising a first varactor (160) connected to a decoupling network (150). The device further comprises a voltage stabilizer (110), said stabilizer comprising a capacitor (140) and a temperature dependent capacitor (130), and in that the stabilizer comprises means for connection to a DC-feed (120). Suitably, the decoupling network (150) is connected in parallel to the first varactor (160), and the capacitor (140) of the voltage stabilizer (110) is connected in parallel to the decoupling network (150), the temperature dependent capacitor (130) of the voltage stabilizer (110) being connected in series to the diode of the voltage stabilizer (110)
|
|
| 25. |
- Jacobsson, Harald, 1961, et al.
(författare)
-
Delay locked loop with precision contolled delay
- 2007
-
Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- The invention discloses a delay-locked loop circuit with input means for a signal that is to be delayed, the input means comprising means for splitting the input signal into a first and a second branch. The signal in the first branch is connected to a component for delaying the signal, and the signal in the second branch is used as a non-delayed reference for the delay caused by the delay component in the first branch. The delay component is a passive tunable delay line, and the circuit comprises tuning means for the tunable delay line, the tuning means being affected by said reference signal, and the first branch comprises output means for outputting a delayed signal with a chosen phase delay. Suitably, the delay component is continuously tunable, for example a tunable ferroelectric delay line.
|
|
| 26. |
- Jacobsson, Harald, 1961, et al.
(författare)
-
Delay locked loop with precision controlled delay
- 2008
-
Patent (övrigt vetenskapligt/konstnärligt)abstract
- The invention discloses a delay-locked loop circuit with input means for a signal that is to be delayed, the input means comprising means for splitting the input signal into a first and a second branch. The signal in the first branch is connected to a component for delaying the signal, and the signal in the second branch is used as a non-delayed reference for the delay caused by the delay component in the first branch. The delay component is a passive tunable delay line, and the circuit comprises tuning means for the tunable delay line, the tuning means being affected by said reference signal, and the first branch comprises output means for outputting a delayed signal with a chosen phase delay. Suitably, the delay component is continuously tunable, for example a tunable ferroelectric delay line
|
|
| 27. |
- Jacobsson, Harald, 1961, et al.
(författare)
-
Oscillator circuit with tuneable signal delay means
- 2008
-
Patent (övrigt vetenskapligt/konstnärligt)abstract
- The invention discloses an oscillator circuit (100, 200, 300, 400), comprising an oscillating element (110, 210, 310, 410) and output means (115, 215, 315, 415) for outputting an oscillation frequency from the oscillating circuit. The circuit further comprises a signal delay means (120, 220, 320, 420) which is arranged in series with the oscillating element and feeds the output signal back to the oscillating element. The delay means is (120, 220, 320, 420) tuneable with respect to the delay it provides. The oscillating element can be an amplifier or a VCO, and the delay means can be a Delay Locked Loop or a tuneable delay line, depending on the embodiment of the invention.
|
|
| 28. |
- Jacobsson, Harald, 1961, et al.
(författare)
-
Oscillator circuit with tuneable signal delay means
- 2007
-
Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- The invention discloses an oscillator circuit (100, 200, 300, 400), comprising an oscillating element (110, 210, 310, 410) and output means (115, 215, 315, 415) for outputting an oscillation frequency from the oscillating circuit. The circuit further comprises a signal delay means (120, 220, 320, 420) which is arranged in series with the oscillating element and feeds the output signal back to the oscillating element. The delay means is (120, 220, 320, 420) tuneable with respect to the delay it provides. The oscillating element can be an amplifier or a VCO, and the delay means can be a Delay Locked Loop or a tuneable delay line, depending on the embodiment of the invention
|
|
| 29. |
- Kuylenstierna, Dan, 1976, et al.
(författare)
-
Tuneable ferroelectric delay line having mirror image conductors
- 2010
-
Patent (övrigt vetenskapligt/konstnärligt)abstract
- A tunable electromagnetic delay line, comprising a first conductor with a first main direction of extension. The first conductor is arranged on top of a non-conducting substrate. The delay line additionally comprises a layer of a ferroelectric material with first and second main surfaces. The layer separates the first conductor and the substrate. The delay line also comprises a second conductor with a second main direction of extension, with the first and second main directions of extensions essentially coinciding with each other, and with the first and second conductors being each other's mirror image with respect to an imagined line in the center of the delay line along the first and second main directions of extension. The tuning is accomplished by applying a voltage between said first and second conductors
|
|
| 30. |
- Lewin, Harris A., et al.
(författare)
-
The Earth BioGenome Project 2020 : Starting the clock
- 2022
-
Ingår i: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences (PNAS). - 0027-8424 .- 1091-6490. ; 119:4
-
Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
|
|
| 31. |
- Migliorini, Gabriele, et al.
(författare)
-
Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype
- 2013
-
Ingår i: Blood. - : American Society of Hematology. - 1528-0020 .- 0006-4971. ; 122:19, s. 3298-3307
-
Tidskriftsartikel (refereegranskat)abstract
- Acute lymphoblastic leukemia (ALL) is the major pediatric cancer diagnosed in economically developed countries with B-cell precursor (BCP)-ALL, accounting for approximately 70% of ALL. Recent genome-wide association studies (GWAS) have provided the first unambiguous evidence for common inherited susceptibility to BCP-ALL, identifying susceptibility loci at 7p12.2, 9p21.3, 10q21.2, and 14q11.2. To identify additional BCP-ALL susceptibility loci, we conducted a GWAS and performed a meta-analysis with a published GWAS totaling 1658 cases and 4723 controls, with validation in 1449 cases and 1488 controls. Combined analysis identified novel loci mapping to 10p12.2 (rs10828317, odds ratio [OR] = 1.23; P = 2.30 x 10(-9)) and 10p14marked by rs3824662(OR = 1.31; P = 8.62 x 10(-12)). The single nucleotide polymorphism rs10828317 is responsible for the N215S polymorphism in exon 7 of PIP4K2A, and rs3824662 localizes to intron 3 of the transcription factor and putative tumor suppressor gene GATA3. The rs10828317 association was shown to be specifically associated with hyperdiploid ALL, whereas the rs3824662-associated risk was confined to nonhyperdiploid non-TEL-AML1 + ALL. The risk allele of rs3824662 was correlated with older age at diagnosis (P < .001) and significantly worse event-free survivorship (P < .0001). These findings provide further insights into the genetic and biological basis of inherited genetic susceptibility to BCP-ALL and the influence of constitutional genotype on disease development.
|
|
| 32. |
- Nyqvist, Johanna, et al.
(författare)
-
Differences in health related quality of life in the randomised ARTSCAN study; accelerated vs. conventional radiotherapy for head and neck cancer. A five year follow up
- 2016
-
Ingår i: Radiotherapy and Oncology. - : Elsevier BV. - 0167-8140 .- 1879-0887. ; 118:2, s. 335-341
-
Tidskriftsartikel (refereegranskat)abstract
- Background and purpose: Health related quality of life (HRQoL) was assessed in the randomised, prospective ARTSCAN study comparing conventional radiotherapy (CF) with accelerated radiotherapy (AF) for head and neck cancer. Material and methods: 750 patients with squamous cell carcinoma (of any grade and stage) in the oral cavity, oro-, or hypopharynx or larynx (except T1-2, NO glottic carcinoma) without distant metastases were randomised to either conventional fractionation (2 Gy/day, 5 days/week in 49 days, total dose 68 Gy) or accelerated fractionation (1.1 + 2.0 Gy/day, 5 days/week in 35 days, total dose 68 Gy). HRQoL was assessed with EORTC QLQ-C30, QLQ-H&N35 and HADS at baseline, at end of radiotherapy (eRT) and at 3 and 6 months and 1, 2 and 5 years after start of treatment. Results: The AF group reported HRQoL was significantly lower at eRT and at 3 months for most symptoms, scales and functions. Few significant differences were noted between the groups at 6 months and 5 years. Scores related to functional oral intake never reached baseline. Conclusion: In comparison to CF, AF has a stronger adverse effect on HRQoL in the acute phase.
|
|
| 33. |
- Smith, Jennifer A, et al.
(författare)
-
Genome-wide association study identifies 74 loci associated with educational attainment
- 2016
-
Ingår i: Nature (London). - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 533:7604, s. 539-542
-
Tidskriftsartikel (refereegranskat)abstract
- Educational attainment is strongly influenced by social and other environmental factors, but genetic factors are estimated to account for at least 20% of the variation across individuals. Here we report the results of a genome-wide association study (GWAS) for educational attainment that extends our earlier discovery sample of 101,069 individuals to 293,723 individuals, and a replication study in an independent sample of 111,349 individuals from the UK Biobank. We identify 74 genome-wide significant loci associated with the number of years of schooling completed. Single-nucleotide polymorphisms associated with educational attainment are disproportionately found in genomic regions regulating gene expression in the fetal brain. Candidate genes are preferentially expressed in neural tissue, especially during the prenatal period, and enriched for biological pathways involved in neural development. Our findings demonstrate that, even for a behavioural phenotype that is mostly environmentally determined, a well-powered GWAS identifies replicable associated genetic variants that suggest biologically relevant pathways. Because educational attainment is measured in large numbers of individuals, it will continue to be useful as a proxy phenotype in efforts to characterize the genetic influences of related phenotypes, including cognition and neuropsychiatric diseases.
|
|
| 34. |
- Vijayakrishnan, Jayaram, et al.
(författare)
-
The 9p21.3 risk of childhood acute lymphoblastic leukaemia is explained by a rare high-impact variant in CDKN2A.
- 2015
-
Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 5
-
Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWAS) have provided strong evidence for inherited predisposition to childhood acute lymphoblastic leukaemia (ALL) identifying a number of risk loci. We have previously shown common SNPs at 9p21.3 influence ALL risk. These SNP associations are generally not themselves candidates for causality, but simply act as markers for functional variants. By means of imputation of GWAS data and subsequent validation SNP genotyping totalling 2,177 ALL cases and 8,240 controls, we have shown that the 9p21.3 association can be ascribed to the rare high-impact CDKN2A p.Ala148Thr variant (rs3731249; Odds ratio = 2.42, P = 3.45 × 10(-19)). The association between rs3731249 genotype and risk was not specific to particular subtype of B-cell ALL. The rs3731249 variant is associated with predominant nuclear localisation of the CDKN2A transcript suggesting the functional effect of p.Ala148Thr on ALL risk may be through compromised ability to inhibit cyclin D within the cytoplasm.
|
|
| 35. |
- Weinhold, Niels, et al.
(författare)
-
Inherited genetic susceptibility to monoclonal gammopathy of unknown significance
- 2014
-
Ingår i: Blood. - : American Society of Hematology. - 1528-0020 .- 0006-4971. ; 123:16, s. 2513-2517
-
Tidskriftsartikel (refereegranskat)abstract
- Monoclonal gammopathy of undetermined significance (MGUS) is present in similar to 2% of individuals age >50 years. The increased risk of multiple myeloma (MM) in relatives of individuals with MGUS is consistent with MGUS being a marker of inherited genetic susceptibility to MM. Common single-nucleotide polymorphisms (SNPs) at 2p23.3 (rs6746082), 3p22.1 (rs1052501), 3q26.2 (rs10936599), 6p21.33 (rs2285803), 7p15.3 (rs4487645), 17p11.2 (rs4273077), and 22q13.1 (rs877529) have recently been shown to influence MM risk. To examine the impact of these 7 SNPs on MGUS, we analyzed two case-control series totaling 492 cases and 7306 controls. Each SNP independently influenced MGUS risk with statistically significant associations (P < .02) for rs1052501, rs2285803, rs4487645, and rs4273077. SNP associations were independent, with risk increasing with a larger number of risk alleles carried (per allele odds ratio, 1.18; P < 10(-7)). Collectively these data are consistent with a polygenic model of disease susceptibility to MGUS.
|
|
| 36. |
- Weinhold, Niels, et al.
(författare)
-
The CCND1 c.870G > A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma
- 2013
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 45:5, s. 522-525
-
Tidskriftsartikel (refereegranskat)abstract
- A number of specific chromosomal abnormalities define the subgroups of multiple myeloma. In a meta-analysis of two genome-wide association studies of multiple myeloma including a total of 1,661 affected individuals, we investigated risk for developing a specific tumor karyotype. The t(11;14)(q13;q32) translocation in which CCND1 is placed under the control of the immunoglobulin heavy chain enhancer was strongly associated with the CCND1 c.870G>A polymorphism (P = 7.96 x 10(-11)). These results provide a model in which a constitutive genetic factor is associated with risk of a specific chromosomal translocation.
|
|
| 37. |
- Wimmers, Lewin, et al.
(författare)
-
Prefabricated construction in British Columbia, Canada : Status and challenges
- 2021
-
Ingår i: World Conference on Timber Engineering 2021, WCTE 2021. - : World Conference on Timber Engineering (WCTE).
-
Konferensbidrag (refereegranskat)abstract
- To advance the performance, sustainability and affordability of prefabricated residential construction, it is important that the industry needs, obstacles and perceptions are studied. This study focused on the prefabricated timber housing industry in British Columbia (BC), Canada. A questionnaire was conducted amongst timber prefabrication companies to explore their opportunities, barriers, and perceptions of their situation. Based on a qualitative analysis, the responses were categorised and compared. The results confirmed that the prefabrication industry uses widely varying processes and is operating in a niche market. The biggest challenge identified throughout the study was the lack of skilled and available labour. A low level of automation is most commonly used but there was a trend that higher levels of automation have higher levels of output. Among other aspects, the findings highlighted the opportunities and difficulties in the process from traditional construction to prefabrication. This research contributes to the discourse on the needs of the BC construction industry for developing high performance prefabricated housing. © WCTE 2021. All rights reserved.
|
|
| 38. |
- Zackrisson, Björn, et al.
(författare)
-
Mature results from a Swedish comparison study of conventional versus accelerated radiotherapy in head and neck squamous cell carcinoma - The ARTSCAN trial
- 2015
-
Ingår i: Radiotherapy and Oncology. - : Elsevier BV. - 0167-8140 .- 1879-0887. ; 117:1, s. 99-105
-
Tidskriftsartikel (refereegranskat)abstract
- Background and purpose: This report contains the mature five-year data from the Swedish ARTSCAN trial including information on the influence of p16 positivity (p16+) for oropharyngeal cancers. Material and methods: Patients with previously untreated squamous cell carcinoma without distant metastases of the oral cavity, oropharynx, larynx (except T1-2, NO glottic cancers) and hypopharynx were included. Patients were randomised between accelerated fractionation (AF) (1.1 Gy + 2 Gy per day, 5 days/week for 4.5 weeks, total dose 68 Gy) and conventional fractionation (CF) (2 Gy per day, 5 days/week for 7 weeks, total dose 68 Gy). Human papillomavirus (HPV)-associated p16-expression was assessed retrospectively in tumour tissues from patients with oropharyngeal carcinoma. Results: There was no significant difference in loco-regional control (LRC) between AF and CF (log-rank test p = 0.75). LRC at 5 years was 65.5% for AF and 64.9% for CF. Overall survival (OS) was similar in both arms (p = 0.99). The estimated cancer specific survival (CSS) at 5 years was 62.2% (AF) and 63.3% (CF) (p = 0.99). 206 specimens were analysed for p16 with 153 specimens (74%) identified as p16+. P16 status did not discriminate for response to AF vs. CF with regard to LRC, OS or CSS. Patients with p16+ tumours had a statistically significant better overall prognosis compared with p16 tumours. Conclusion: This update confirms the results of the 2-year report. We failed to identify a positive effect resulting from AF with regards to LRC, OS and CSS. The addition of information on the HPV-associated p16 overexpression did not explain this lack of effect.
|
|
| 39. |
- Zackrisson, Björn, et al.
(författare)
-
Two-year results from a Swedish study on conventional versus accelerated radiotherapy in head and neck squamous cell carcinoma - The ARTSCAN study
- 2011
-
Ingår i: Radiotherapy and Oncology. - : Elsevier. - 0167-8140 .- 1879-0887. ; 100:1, s. 41-48
-
Tidskriftsartikel (refereegranskat)abstract
- Background and purpose: Studies on accelerated fractionation (AF) in head and neck cancer have shown increased local control and survival compared with conventional fractionation (CF), while others have been non-conclusive. In 1998 a national Swedish group decided to perform a randomised controlled clinical study of AF. Materials and methods: Patients with verified squamous cell carcinoma of the oral cavity, oropharynx, larynx (except glottic T1-T2, N0) and hypopharynx were included. Patients with prior chemotherapy or surgery were excluded. Patients were randomised to either CF (2Gy/day, 5days/week for 7 weeks, total dose 68Gy) or to AF (1.1Gy+2.0Gy/day, 5days/week for 4.5weeks, total dose 68Gy). An extensive quality assurance protocol was followed throughout the study. The primary end point was loco-regional tumour control (LRC) at two years after treatment. RESULTS: The study was closed in 2006 when 750 patients had been randomised. Eighty-three percent of the patients had stages III-IV disease. Forty eight percent had oropharyngeal, 21% laryngeal, 17% hypopharyngeal and 14% oral cancers. There were no significant differences regarding overall survival (OS) or LRC between the two regimens. The OS at two years was 68% for AF and 67% for CF. The corresponding figures for LRC were 71% and 67%, respectively. There was a trend towards improved LRC for oral cancers treated (p=0.07) and for large tumours (T3-T4) (p=0.07) treated with AF. The AF group had significantly worse acute reactions, while there was no significant increase in late effects. Conclusion: Overall the AF regimen did not prove to be more efficacious than CF. However, the trend towards improved results in AF for oral cancers needs to be further investigated.
|
|
