| 1. |
- Rosendahl, J, et al.
(författare)
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Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis
- 2018
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Ingår i: Gut. - : BMJ. - 1468-3288 .- 0017-5749. ; 67:10, s. 1855-1863
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Tidskriftsartikel (refereegranskat)abstract
- Alcohol-related pancreatitis is associated with a disproportionately large number of hospitalisations among GI disorders. Despite its clinical importance, genetic susceptibility to alcoholic chronic pancreatitis (CP) is poorly characterised. To identify risk genes for alcoholic CP and to evaluate their relevance in non-alcoholic CP, we performed a genome-wide association study and functional characterisation of a new pancreatitis locus.Design1959 European alcoholic CP patients and population-based controls from the KORA, LIFE and INCIPE studies (n=4708) as well as chronic alcoholics from the GESGA consortium (n=1332) were screened with Illumina technology. For replication, three European cohorts comprising 1650 patients with non-alcoholic CP and 6695 controls originating from the same countries were used.ResultsWe replicated previously reported risk loci CLDN2-MORC4, CTRC, PRSS1-PRSS2 and SPINK1 in alcoholic CP patients. We identified CTRB1-CTRB2 (chymotrypsin B1 and B2) as a new risk locus with lead single-nucleotide polymorphism (SNP) rs8055167 (OR 1.35, 95% CI 1.23 to 1.6). We found that a 16.6 kb inversion in the CTRB1-CTRB2 locus was in linkage disequilibrium with the CP-associated SNPs and was best tagged by rs8048956. The association was replicated in three independent European non-alcoholic CP cohorts of 1650 patients and 6695 controls (OR 1.62, 95% CI 1.42 to 1.86). The inversion changes the expression ratio of the CTRB1 and CTRB2 isoforms and thereby affects protective trypsinogen degradation and ultimately pancreatitis risk.ConclusionAn inversion in the CTRB1-CTRB2 locus modifies risk for alcoholic and non-alcoholic CP indicating that common pathomechanisms are involved in these inflammatory disorders.
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| 2. |
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| 3. |
- Dempsey, M P, et al.
(författare)
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Genomic deletion marking an emerging subclone of Francisella tularensis subsp. holarctica in France and the Iberian Peninsula.
- 2007
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Ingår i: Applied and Environmental Microbiology. - 0099-2240 .- 1098-5336. ; 73:22, s. 7465-70
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Tidskriftsartikel (refereegranskat)abstract
- Francisella tularensis subsp. holarctica is widely disseminated in North America and the boreal and temperate regions of the Eurasian continent. Comparative genomic analyses identified a 1.59-kb genomic deletion specific to F. tularensis subsp. holarctica isolates from Spain and France. Phylogenetic analysis of strains carrying this deletion by multiple-locus variable-number tandem repeat analysis showed that the strains comprise a highly related set of genotypes, implying that these strains were recently introduced or recently emerged by clonal expansion in France and the Iberian Peninsula.
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| 4. |
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| 5. |
- Hopfner, M., et al.
(författare)
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Validation of MIPAS ClONO2 measurements
- 2007
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Ingår i: Atmospheric Chemistry and Physics. - : Copernicus GmbH. - 1680-7316 .- 1680-7324. ; 7, s. 257-281
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Tidskriftsartikel (refereegranskat)abstract
- Altitude profiles of ClONO2 retrieved with the IMK (Institut fur Meteorologie und Klimaforschung) science-oriented data processor from MIPAS/Envisat (Michelson Interferometer for Passive Atmospheric Sounding on Envisat) mid-infrared limb emission measurements between July 2002 and March 2004 have been validated by comparison with balloon-borne (Mark IV, FIRS2, MIPAS-B), airborne (MIPAS-STR), ground-based (Spitsbergen, Thule, Kiruna, Harestua, Jungfraujoch, Izana, Wollongong, Lauder), and spaceborne (ACE-FTS) observations. With few exceptions we found very good agreement between these instruments and MIPAS with no evidence for any bias in most cases and altitude regions. For balloon-borne measurements typical absolute mean differences are below 0.05 ppbv over the whole altitude range from 10 to 39 km. In case of ACE-FTS observations mean differences are below 0.03 ppbv for observations below 26 km. Above this altitude the comparison with ACE-FTS is affected by the photochemically induced diurnal variation of ClONO2. Correction for this by use of a chemical transport model led to an overcompensation of the photochemical effect by up to 0.1 ppbv at altitudes of 30-35 km in case of MIPAS-ACE-FTS comparisons while for the balloon-borne observations no such inconsistency has been detected. The comparison of MIPAS derived total column amounts with ground-based observations revealed no significant bias in the MIPAS data. Mean differences between MIPAS and FTIR column abundances are 0.11 +/- 0.12 x 10(14) cm(-2) (1.0 +/- 1.1%) and -0.09 +/- 0.19 x 10(14) cm(-2) (-0.8 +/- 1.7%), depending on the coincidence criterion applied. chi(2) tests have been performed to assess the combined precision estimates of MIPAS and the related instruments. When no exact coincidences were available as in case of MIPAS-FTIR or MIPAS-ACE-FTS comparisons it has been necessary to take into consideration a coincidence error term to account for chi(2) deviations. From the resulting chi(2) profiles there is no evidence for a systematic over/underestimation of the MIPAS random error analysis.
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| 6. |
- Anne, R., et al.
(författare)
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Dissociation Reactions of the Be-11 One-Neutron Halo - the Interplay between Structure and Reaction-Mechanism
- 1993
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Ingår i: Physics Letters, Section B: Nuclear, Elementary Particle and High-Energy Physics. - 0370-2693. ; 304:1-2, s. 55-59
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Tidskriftsartikel (refereegranskat)abstract
- The angular distributions of the forward neutrons in the exclusive (Be-10 + n) channel have been measured. They can be accounted for quantitatively and without free parameters in terms of Coulomb and diffraction dissociation. The results show that the transverse momentum distributions result from an interplay between the tail of the wave function (the halo) and the reaction mechanism.
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| 7. |
- Anne, R., et al.
(författare)
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Exclusive and Restricted-Inclusive Reactions Involving the Be-11 One-Neutron Halo
- 1994
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Ingår i: Nuclear Physics A. - : Elsevier BV. - 0375-9474. ; 575:1, s. 125-154
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Tidskriftsartikel (refereegranskat)abstract
- Reactions of a 41 MeV/u beam of the radioactive halo nucleus Be-11 have been studied with a counter telescope coupled to an array of neutron detectors covering angles up to 97-degrees. The technique allows to determine single-neutron inclusive and exclusive angular distributions. The targets (Be, Ti and Au) were chosen to illustrate the relative roles played by nuclear and Coulomb mechanisms. The channels leading to Be-10, the dissociation channels, correspond to impact parameters larger than the sum of the radii of the target and the Be-10 core. It is shown that for the dissociation process it is possible to account almost quantitatively for the integral, single- and double-differential cross sections from models without free parameters including the Coulomb, Serber and Glauber (diffraction-dissociation) mechanisms. The neutron distributions from the nondissociative reaction channels show little individuality and it is convenient to group them together as the channel ''neutron plus anything different from Be-10''. We refer to these as ''restricted-inclusive'' reactions. These seem to be a promising tool for obtaining accurate information on the halo wave function in momentum coordinates.
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| 8. |
- Ivanov, S.V., et al.
(författare)
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MBE growth and properties of bulk BeCdSe alloys and digital (BeSe : CdSe)/ZnSe quantum wells
- 2000
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Ingår i: Journal of Crystal Growth. - 0022-0248 .- 1873-5002. ; 214, s. 109-114
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Tidskriftsartikel (refereegranskat)abstract
- We report for the first time on MBE growth, structural and optical properties of single layers, quantum well structures and short-period superlattices based on BexCd1-xSe ternary alloys on GaAs. Both the conventional MBE growth mode and the sub-monolayer digital alloying technique (SDA) have been employed for the fabrication of the structures. Compositional boundaries of an instability region 0.03 < x < 0.38, calculated in a regular solution approximation for the completely coherent system, agree well with available experimental data. A suppression of the phase separation in BeCdSe by elastic stress in the layer, accompanied by a strong reduction of the Cd incorporation coefficient has been found. Ultrathin 2.8 ML BeCdSe SDA QWs with x approx. 0.15 demonstrate about an order of magnitude increase in the PL intensity with respect to the pure CdSe one, probably resulting from an enhanced carrier localization efficiency. Eg as a function of the Be content reveals a strong bowing in optical data, which allows one to consider BeCdSe alloys with compositions nearly lattice-matched to GaAs as potential materials for the active region of blue-green lasers.
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| 9. |
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| 10. |
- Birdsell, D. N., et al.
(författare)
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Coinfections identified from metagenomic analysis of cervical lymph nodes from tularemia patients
- 2018
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Ingår i: BMC Infectious Diseases. - : BMC. - 1471-2334. ; 18
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Tidskriftsartikel (refereegranskat)abstract
- Background: Underlying coinfections may complicate infectious disease states but commonly go unnoticed because an a priori clinical suspicion is usually required so they can be detected via targeted diagnostic tools. Shotgun metagenomics is a broad diagnostic tool that can be useful for identifying multiple microbes simultaneously especially if coupled with lymph node aspirates, a clinical matrix known to house disparate pathogens. The objective of this study was to analyze the utility of this unconventional diagnostic approach (shotgun metagenomics) using clinical samples from human tularemia cases as a test model. Tularemia, caused by the bacterium Francisella tularensis, is an emerging infectious disease in Turkey. This disease commonly manifests as swelling of the lymph nodes nearest to the entry of infection. Because swollen cervical nodes are observed from many different types of human infections we used these clinical sample types to analyze the utility of shotgun metagenomics.Methods: We conducted an unbiased molecular survey using shotgun metagenomics sequencing of DNA extracts from fine-needle aspirates of neck lymph nodes from eight tularemia patients who displayed protracted symptoms. The resulting metagenomics data were searched for microbial sequences (bacterial and viral).Results: F. tularensis sequences were detected in all samples. In addition, we detected DNA of other known pathogens in three patients. Both Hepatitis B virus (HBV) and Human Parvovirus B-19 were detected in one individual and Human Parvovirus B-19 alone was detected in two other individuals. Subsequent PCR coupled with Sanger sequencing verified the metagenomics results. The HBV status was independently confirmed via serological diagnostics, despite evading notice during the initial assessment.Conclusion: Our data highlight that shotgun metagenomics of fine-needle lymph node aspirates is a promising clinical diagnostic strategy to identify coinfections. Given the feasibility of the diagnostic approach demonstrated here, further steps to promote integration of this type of diagnostic capability into mainstream clinical practice are warranted.
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