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Sökning: WFRF:(Carlberg Daniel)

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1.
  • Blanton, Michael R., et al. (författare)
  • Sloan Digital Sky Survey IV : Mapping the Milky Way, Nearby Galaxies, and the Distant Universe
  • 2017
  • Ingår i: Astronomical Journal. - : IOP Publishing Ltd. - 0004-6256 .- 1538-3881. ; 154:1
  • Tidskriftsartikel (refereegranskat)abstract
    • We describe the Sloan Digital Sky Survey IV (SDSS-IV), a project encompassing three major spectroscopic programs. The Apache Point Observatory Galactic Evolution Experiment 2 (APOGEE-2) is observing hundreds of thousands of Milky Way stars at high resolution and. high signal-to-noise ratios in the near-infrared. The Mapping Nearby Galaxies at Apache Point Observatory (MaNGA) survey is obtaining spatially resolved spectroscopy for thousands of nearby galaxies (median z similar to 0.03). The extended Baryon Oscillation Spectroscopic Survey (eBOSS) is mapping the galaxy, quasar, and neutral gas distributions between z similar to 0.6 and 3.5 to constrain cosmology using baryon acoustic oscillations, redshift space distortions, and the shape of the power spectrum. Within eBOSS, we are conducting two major subprograms: the SPectroscopic IDentification of eROSITA Sources (SPIDERS), investigating X-ray AGNs. and galaxies in X-ray clusters, and the Time Domain Spectroscopic Survey (TDSS), obtaining spectra of variable sources. All programs use the 2.5 m Sloan Foundation Telescope at the. Apache Point Observatory; observations there began in Summer 2014. APOGEE-2 also operates a second near-infrared spectrograph at the 2.5 m du Pont Telescope at Las Campanas Observatory, with observations beginning in early 2017. Observations at both facilities are scheduled to continue through 2020. In keeping with previous SDSS policy, SDSS-IV provides regularly scheduled public data releases; the first one, Data Release 13, was made available in 2016 July.
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2.
  • The Seventeenth Data Release of the Sloan Digital Sky Surveys : Complete Release of MaNGA, MaStar, and APOGEE-2 Data
  • 2022
  • Ingår i: Astrophysical Journal Supplement Series. - : Institute of Physics (IOP). - 0067-0049 .- 1538-4365. ; 259:2
  • Tidskriftsartikel (refereegranskat)abstract
    • This paper documents the seventeenth data release (DR17) from the Sloan Digital Sky Surveys; the fifth and final release from the fourth phase (SDSS-IV). DR17 contains the complete release of the Mapping Nearby Galaxies at Apache Point Observatory (MaNGA) survey, which reached its goal of surveying over 10,000 nearby galaxies. The complete release of the MaNGA Stellar Library accompanies this data, providing observations of almost 30,000 stars through the MaNGA instrument during bright time. DR17 also contains the complete release of the Apache Point Observatory Galactic Evolution Experiment 2 survey that publicly releases infrared spectra of over 650,000 stars. The main sample from the Extended Baryon Oscillation Spectroscopic Survey (eBOSS), as well as the subsurvey Time Domain Spectroscopic Survey data were fully released in DR16. New single-fiber optical spectroscopy released in DR17 is from the SPectroscipic IDentification of ERosita Survey subsurvey and the eBOSS-RM program. Along with the primary data sets, DR17 includes 25 new or updated value-added catalogs. This paper concludes the release of SDSS-IV survey data. SDSS continues into its fifth phase with observations already underway for the Milky Way Mapper, Local Volume Mapper, and Black Hole Mapper surveys.
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3.
  • Henmyr, Viktor, et al. (författare)
  • Characterization of genetic variation in TLR8 in relation to allergic rhinitis
  • 2015
  • Ingår i: Allergy. European Journal of Allergy and Clinical Immunology. - : Wiley-Blackwell. - 0105-4538 .- 1398-9995.
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: A previous investigation of all 10 TLR-genes for associations with allergic rhinitis (AR) detected a number of significant SNPs in the TLR8 locus. The associations indicated that an accumulation of rare variants could explain the signal. The present study therefore searches for rare variants in the TLR8 region and also investigates the reproducibility of previous SNP associations.METHODS: The TLR8 gene was re-sequenced in 288 AR patients from Malmö and the data was compared with publically available data. Seven previously AR-associated SNPs from TLR8 were analyzed for AR-associations in 422 AR patients and 859 controls from the BAMSE cohort. The associations detected in present and previous studies were compared.RESULTS: Sequencing detected 13 polymorphisms (3 promotor, 10 coding) among 288 AR patients. Four of the coding polymorphisms were rare (MAF <1%) and three of those were novel. Two coding polymorphisms were benign missense mutations and the rest were synonymous. Comparison with 1000Genomes and Exome Aggregation Consortium data revealed no accumulation of rare variants in the AR cases. The AR-association tests made using the BAMSE cohort yielded 5 P-values < 0.05. Tests of IgE-levels yielded 4 significant SNP associations to birch pollen. Comparing results between different populations revealed opposing risk alleles, different gender effects and response to different allergens in the different populations.CONCLUSIONS: Rare variants in TLR8 are not associated with AR. Comparison of present and previous association studies reveal contradictory results for common variants. Thus, no associations exist between genetic variation in TLR8 and AR. This article is protected by copyright. All rights reserved.
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4.
  • Carlberg, Daniel (författare)
  • Genetic association studies in allergic rhinitis
  • 2014
  • Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
    • Allergic rhinitis (AR) is a global health problem that causes major disability worldwide. Nasal obstruction, secretion and itching are characterizing features of the disease. The development and severity of AR are determined by a complex interaction between environmental and genetic factors and the heritability for AR has been estimated to be high. Genetic association studies are commonly used to investigate complex disease. Most association studies have focused on common variation in the form of single nucleotide polymorphisms (SNPs), where allele and genotype frequencies are compared between cases and controls. More than 100 SNPs have previously been associated with AR. In the first study of this thesis, the general reproducibility of previous AR associations were evaluated. The overall result showed that very few of the investigated SNPs were associated with AR in the study populations. The study also indicated that odds ratios were inflated in most of the original studies, and concordance of risk alleles between the studies was low. Since the genetic background of asthma has been far more investigated compared to the genetics of AR and since asthma is closely related to AR, the second study investigated genetic variation in 21 highly replicated asthma-associated genes for associations also in AR. Only two genes were identified as potential links between AR and asthma, indicating the different genetic make-up of these diseases. Three meta studies of genome-wide association studies (mGWAS) recently identified a total of 47 index SNPs associated with different AR phenotypes. In the third study, these SNPs were investigated in a replication study using the same SNPs and the same phenotype definitions as in the mGWAS. Two out of four loci (TLR1-TLR6 and HLA- DQA1-HLA-DQB1) identified by all three original studies were also detected in the replication study. This suggests a central role of these loci in the epidemiology of allergic disease. In addition, associations between genetic variation in the SSTR1-MIPOL1 and TSLP-SLC25A46 loci and age at which the allergic symptoms started was also identified. This was the first report of age at onset effects in AR. The Toll-like receptors (TLRs) have earlier been investigated for their involvement in different allergic diseases. In the fourth study, common genetic variation in the TLR genes was investigated for association with AR in two ethnically different populations. The TLR7-TLR8 locus was identified as associated with AR in both populations in a sex-specific manner. In addition, weak associations were also observed for TLR1 and TLR6. In the fifth study of this thesis, rare variation in both the coding sequences and the putative promoter regions of the TLR genes were investigated using sequence data from 288 AR patients and a European subset (EUR) of the 1000 Genomes project. The promotor region of TLR10 showed a significant accumulation of SNPs with minor allele frequency ≤ 1% in the AR population compared to the EUR population. Another potential accumulation was a nonsense mutation, S324* in TLR1, estimated to 5 copies in the AR population but none in the EUR populations. This indicates that both common and rare SNPs in the TLR genes contribute to AR. In summary, this thesis demonstrates that both rare and common variation are associated with AR and highlights the importance of the TLR10-TLR1-TLR6 locus in the development of the disease. It also emphazises the need for large and well-characterized populations in association and replication studies.
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5.
  • Davis, Paul A., et al. (författare)
  • The psychophysiological influence of exertion and affect on sport-specific cognitive and physical performance
  • 2022
  • Ingår i: Journal of Science and Medicine in Sport. - : Elsevier. - 1440-2440 .- 1878-1861. ; 25:9, s. 764-769
  • Tidskriftsartikel (refereegranskat)abstract
    • Objectives:  The purpose of the present study was to examine differences in cognitive and physical performance, affective states, perceived exertion, and physiological responses between trials with cognitive, physical, or combined cognitive and physical load.Design:  Randomised cross-over trial.Methods:  Highly trained competitive orienteers (n = 15 men; n = 10 women) completed three randomised trials comprised of: (1) sport-specific cognitive tests; (2) 35-minute cycling time trial; and (3) combined sport-specific cognitive tests and 35-minute cycling time trial. Measures taken during the trials recorded affective states, perceived exertion, heart rate, blood lactate, cycling watts, as well as working memory, updating, planning and decision making.Results:  No significant differences in cognitive performance accuracy were observed within or across trials although reaction times improved within trials and were fastest in the combined trial. Blood lactate, heart rate, perceived exertion, negative affective states, and watts were highest in the physical trial.Conclusions:  The combined load of undertaking sport-specific cognitive tests and a cycling time trial did not influence cognitive performance accuracy. Athletes produced greater watts when completing the physical task independently compared with the combined trial, however psychophysiological responses were worse. Further investigation is warranted to determine whether athletes' attentional focus underpins psychophysiological responses to dual-task sport performance.
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6.
  • Henmyr, Viktor, et al. (författare)
  • Characterization of genetic variation in TLR8 in relation to allergic rhinitis
  • 2015
  • Ingår i: Allergy. European Journal of Allergy and Clinical Immunology. - : Wiley. - 0105-4538 .- 1398-9995.
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: A previous investigation of all 10 TLR-genes for associations with allergic rhinitis (AR) detected a number of significant SNPs in the TLR8 locus. The associations indicated that an accumulation of rare variants could explain the signal. The present study therefore searches for rare variants in the TLR8 region and also investigates the reproducibility of previous SNP associations. METHODS: The TLR8 gene was re-sequenced in 288 AR patients from Malmö and the data was compared with publically available data. Seven previously AR-associated SNPs from TLR8 were analyzed for AR-associations in 422 AR patients and 859 controls from the BAMSE cohort. The associations detected in present and previous studies were compared. RESULTS: Sequencing detected 13 polymorphisms (3 promotor, 10 coding) among 288 AR patients. Four of the coding polymorphisms were rare (MAF <1%) and three of those were novel. Two coding polymorphisms were benign missense mutations and the rest were synonymous. Comparison with 1000Genomes and Exome Aggregation Consortium data revealed no accumulation of rare variants in the AR cases. The AR-association tests made using the BAMSE cohort yielded 5 P-values < 0.05. Tests of IgE-levels yielded 4 significant SNP associations to birch pollen. Comparing results between different populations revealed opposing risk alleles, different gender effects and response to different allergens in the different populations. CONCLUSIONS: Rare variants in TLR8 are not associated with AR. Comparison of present and previous association studies reveal contradictory results for common variants. Thus, no associations exist between genetic variation in TLR8 and AR. This article is protected by copyright. All rights reserved.
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7.
  • Henmyr, Viktor, et al. (författare)
  • Chronic rhinosinusitis patients show accumulation of genetic variants in PARS2
  • 2016
  • Ingår i: PLoS ONE. - : Public Library of Science. - 1932-6203. ; 11:6
  • Tidskriftsartikel (refereegranskat)abstract
    • Genetic studies of chronic rhinosinusitis (CRS) have identified a total of 53 CRS-associated SNPs that were subsequently evaluated for their reproducibility in a recent study. The rs2873551 SNP in linkage disequilibrium with PARS2 showed the strongest association signal. The present study aims to comprehensively screen for rare variants in PARS2 and evaluate for accumulation of such variants in CRS-patients. Sanger sequencing and long-range PCR were used to screen for rare variants in the putative promoter region and coding sequence of 310 CRS-patients and a total of 21 variants were detected. The mutation spectrum was then compared with data from European populations of the 1000Genomes project (EUR) and the Exome Aggregation Consortium (ExAC). The CRS population showed a significant surplus of low-frequency variants compared with ExAC data. Haplotype analysis of the region showed a significant excess of rare haplotypes in the CRS population compared to the EUR population. Two missense mutations were also genotyped in the 310 CRS patients and 372 CRS-negative controls, but no associations with the disease were found. This is the first re-sequencing study in CRS research and also the first study to show an association of rare variants with the disease.
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8.
  • Ingason, Haukur, et al. (författare)
  • The Metro Project : Final report
  • 2012
  • Rapport (övrigt vetenskapligt/konstnärligt)abstract
    • This report compiles the results from the METRO project. The different parts of theproject – design fires, evacuation, integrated fire control, smoke control, extraordinarystrain onconstructions and fire- and rescue operations – are presented separately.The most complicated and expensive part of the project was the performance of thelarge scale fire and explosion tests in the Brunsberg tunnel, where the maximum heatrelease rates measured from the metro wagon was 77 MW.The main results from the project are new recommendations regarding design firesin mass transport systems, identification of key factors for fire and smoke spread in tunnelsand at stations as well as regarding the difficulties for disabled persons to evacuatefrom trains in tunnels, new recommended types of way guiding systems, safer design incase of explosions in trains and evaluation of the fire and rescue services’ possibilitiesand limitations in underground mass transport systems.
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9.
  • Ingason, Haukur, et al. (författare)
  • The Metro Project: Final Report
  • 2012
  • Rapport (övrigt vetenskapligt/konstnärligt)abstract
    • The report compiles the results from the METRO-project. The different parts of the project; design fires, evacuation, integrated fire control, smoke control, extraordinary strain on constructions and fire- and rescue operations are presented separately. The most complicated and expensive part of the project was the performance of the large scale fire and explosion tests in the Brunsberg tunnel. The maximum heat release rates measured from the metro carriage was 77 MW. The maximum ceiling gas temperatures was 1118 °C. These values are high, and should be put into a perspective of the situation and the type of carriages used. The project is not recommending the highest values as the design fire, but values reflected in conditions. The egress study confirm that one of the major issues related to fire evacuation in underground transportation systems is that people often are reluctant to initiate an evacuation. New data show that participants moved with an average of 0.9 meters per second in the smoke filled environment (average visibility of 1.5–3.5 meters). A way-finding installation at the emergency exit, which consisted of a loudspeaker, was found to perform particularly well in terms of attracting people to the door. Two smoke control systems were simulated for a single exit metro station. The systems consisted of a pressurizing supply air system and mechanical exhaust ventilation system with and without platform screen doors. The results show that both the pressurizing supply air system and the mechanical exhaust air system provide effective smoke control for one exit metro station. The significance of the platform screen doors was shown to be important in relation to smoke control. Experiments and simulations have provided increased confidence in ability to simulate explosion scenarios to determine the pressure inside and outside a carriage and to be able to study variations of conditions such as carriage geometry and window designs. The explosion test performed show that an explosion with a relatively minor charge can significantly change the conditions for both evacuees and the rescue service. The results show that the conditions for evacuation and rescue operations can change dramatically as a result of a relatively minor explosion. Evaluation of methods and fire and rescue tactics in metros is given. Mapping of IR imaging as a tactical resource at tunnel fires was presented.
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10.
  • Lind-Halldén, Christina, et al. (författare)
  • Genetic variation in the syntaxin-binding protein STXBP5 in type 1 von Willebrand disease patients
  • 2018
  • Ingår i: Thrombosis and haemostasis. - 2567-689X. ; 118:8, s. 1382-1389
  • Tidskriftsartikel (refereegranskat)abstract
    • von Willebrand factor (VWF) levels in healthy individuals and in patients with type 1 von Willebrand disease (VWD) are influenced by genetic variation in several genes, for example, VWF, ABO and STXBP5. Here, we comprehensively screen for STXBP5 variants and investigate their association with type 1 VWD in Swedish patients and controls. The coding region of the STXBP5 gene was re-sequenced in 107 type 1 VWD patients and the detected variants were genotyped in the type 1 VWD population and a Swedish control population (464 individuals). The functional effects of missense alleles were predicted in silico and the pattern of genetic variation in STXBP5 was analysed. Re-sequencing of 107 type 1 VWD patients identified three missense and three synonymous variants in the coding sequence of STXBP5. The low-frequency missense variants rs144099092 (0.005) and rs148830578 (0.029) were predicted to be damaging, but were not accumulated in patients. No other rare candidate mutations were detected. STXBP5 showed a high level of linkage disequilibrium and a low overall nucleotide diversity of π = 3.2 × 10-4 indicating intolerance to variants affecting protein function. Three previously type 1 VWD-associated single nucleotide polymorphisms were located on one haplotype that showed an increased frequency in patients versus controls. No differences in messenger ribonucleic acid abundance among haplotypes could be found using Genotype-Tissue Expression project data. In conclusion, a haplotype containing the STXBP5 Asn436Ser (rs1039084) mutation is associated with type 1 VWD and no rare STXBP5 mutations contribute to type 1 VWD in the Swedish population.
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