| 1. |
- Abgrall, N., et al.
(författare)
-
The large enriched germanium experiment for neutrinoless double beta decay (LEGEND)
- 2017
-
Ingår i: AIP Conference Proceedings. - : Author(s). - 1551-7616 .- 0094-243X. ; 1894
-
Konferensbidrag (refereegranskat)abstract
- The observation of neutrinoless double-beta decay (0νββ) would show that lepton number is violated, reveal that neu-trinos are Majorana particles, and provide information on neutrino mass. A discovery-capable experiment covering the inverted ordering region, with effective Majorana neutrino masses of 15 - 50 meV, will require a tonne-scale experiment with excellent energy resolution and extremely low backgrounds, at the level of ∼0.1 count /(FWHM·t·yr) in the region of the signal. The current generation 76Ge experiments GERDA and the Majorana Demonstrator, utilizing high purity Germanium detectors with an intrinsic energy resolution of 0.12%, have achieved the lowest backgrounds by over an order of magnitude in the 0νββ signal region of all 0νββ experiments. Building on this success, the LEGEND collaboration has been formed to pursue a tonne-scale 76Ge experiment. The collaboration aims to develop a phased 0νββ experimental program with discovery potential at a half-life approaching or at 1028 years, using existing resources as appropriate to expedite physics results.
|
|
| 2. |
- Gehlen, J., et al.
(författare)
-
First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B
- 2022
-
Ingår i: Human Genetics and Genomics Advances. - : Elsevier BV. - 2666-2477. ; 3:2
-
Tidskriftsartikel (refereegranskat)abstract
- Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is the most common congenital malformation of the upper digestive tract. This study represents the first genome-wide association study (GWAS) to identify risk loci for EA/TEF. We used a European case-control sample comprising 764 EA/TEF patients and 5,778 controls and observed genome-wide significant associations at three loci. On chromosome 10q21 within the gene CTNNA3 (p = 2.11 × 10−8; odds ratio [OR] = 3.94; 95% confidence interval [CI], 3.10–5.00), on chromosome 16q24 next to the FOX gene cluster (p = 2.25 × 10−10; OR = 1.47; 95% CI, 1.38–1.55) and on chromosome 17q12 next to the gene HNF1B (p = 3.35 × 10−16; OR = 1.75; 95% CI, 1.64–1.87). We next carried out an esophageal/tracheal transcriptome profiling in rat embryos at four selected embryonic time points. Based on these data and on already published data, the implicated genes at all three GWAS loci are promising candidates for EA/TEF development. We also analyzed the genetic EA/TEF architecture beyond the single marker level, which revealed an estimated single-nucleotide polymorphism (SNP)-based heritability of around 37% ± 14% standard deviation. In addition, we examined the polygenicity of EA/TEF and found that EA/TEF is less polygenic than other complex genetic diseases. In conclusion, the results of our study contribute to a better understanding on the underlying genetic architecture of ET/TEF with the identification of three risk loci and candidate genes. © 2022 The Authors
|
|
| 3. |
|
|
| 4. |
|
|
| 5. |
- Rosendahl, J, et al.
(författare)
-
Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis
- 2018
-
Ingår i: Gut. - : BMJ. - 1468-3288 .- 0017-5749. ; 67:10, s. 1855-1863
-
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.
|
|
| 6. |
|
|
| 7. |
- Zhang, Mingfeng, et al.
(författare)
-
Three new pancreatic cancer susceptibility signals identified on chromosomes 1q32.1, 5p15.33 and 8q24.21
- 2016
-
Ingår i: Oncotarget. - : Impact Journals, LLC. - 1949-2553. ; 7:41, s. 66328-66343
-
Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies (GWAS) have identified common pancreatic cancer susceptibility variants at 13 chromosomal loci in individuals of European descent. To identify new susceptibility variants, we performed imputation based on 1000 Genomes (1000G) Project data and association analysis using 5,107 case and 8,845 control subjects from 27 cohort and case-control studies that participated in the PanScan I-III GWAS. This analysis, in combination with a two-staged replication in an additional 6,076 case and 7,555 control subjects from the PANcreatic Disease ReseArch (PANDoRA) and Pancreatic Cancer Case-Control (PanC4) Consortia uncovered 3 new pancreatic cancer risk signals marked by single nucleotide polymorphisms (SNPs) rs2816938 at chromosome 1q32.1 (per allele odds ratio (OR) = 1.20, P = 4.88x10(-15)), rs10094872 at 8q24.21 (OR = 1.15, P = 3.22x10(-9)) and rs35226131 at 5p15.33 (OR = 0.71, P = 1.70x10(-8)). These SNPs represent independent risk variants at previously identified pancreatic cancer risk loci on chr1q32.1 (NR5A2), chr8q24.21 (MYC) and chr5p15.33 (CLPTM1L-TERT) as per analyses conditioned on previously reported susceptibility variants. We assessed expression of candidate genes at the three risk loci in histologically normal (n = 10) and tumor (n = 8) derived pancreatic tissue samples and observed a marked reduction of NR5A2 expression (chr1q32.1) in the tumors (fold change -7.6, P = 5.7x10(-8)). This finding was validated in a second set of paired (n = 20) histologically normal and tumor derived pancreatic tissue samples (average fold change for three NR5A2 isoforms -31.3 to -95.7, P = 7.5x10(-4)-2.0x10(-3)). Our study has identified new susceptibility variants independently conferring pancreatic cancer risk that merit functional follow-up to identify target genes and explain the underlying biology.
|
|
| 8. |
|
|
| 9. |
- Andren-Sandberg, A, et al.
(författare)
-
Randomized trials in exocrine pancreatic cancer
- 2011
-
Ingår i: PRZEGLAD GASTROENTEROLOGICZNY. - : Termedia Sp. z.o.o.. - 1895-5770. ; 6:2, s. 85-96
-
Forskningsöversikt (övrigt vetenskapligt/konstnärligt)
|
|
| 10. |
- Antonsson, H, et al.
(författare)
-
VIBRATIONAL MOTION AND GEOMETRICAL STRUCTURE IN ADSORBED CO STUDIED BY CORE LEVEL PHOTOELECTRON-SPECTROSCOPY
- 1990
-
Ingår i: Journal of Electron Spectroscopy and Related Phenomena. - 0368-2048. ; 54, s. 601-613
-
Tidskriftsartikel (refereegranskat)abstract
- High resolution core level spectra from CO adsorbed on clean and hydrogen precovered Ni(100) and CO adsorbed on Cu(100) are presented. The core level binding energy is shown to be sensitive to the adsorption site. Cluster calculations reproduce the general trend of the binding energy shifts between the on top and hollow sites of CO/Ni(100). In the coadsorption system CO/H/Ni(100) three different adsorption sites have been observed with a maximum binding energy shift of 2.6 eV for the Ols level. The temperature dependence of the Cls and Ols line profiles in CO/Ni(100) has been carefully investigated. The temperature dependent broadening is due to thermal excitations of frustrated translations parallel to the surface. The spectra from CO on Cu(100) show no temperature dependence below 200K.
|
|
| 11. |
- Camerani, Caterina, et al.
(författare)
-
X-ray fluorescence tomography of individual municipal solid waste and biomass fly ash particles
- 2004
-
Ingår i: ANALYTICAL CHEMISTRY. ; 76:6, s. 1586-1595
-
Tidskriftsartikel (refereegranskat)abstract
- Information about Cd distribution inside single municipal solid waste and biomass fly ash particles is fundamental since it affects its leachability. The internal 2D distributions of the main and trace elements in such highly inhomogeneous matrixes were successfully determined by means of the combined synchrotron radiation induced micro X-ray fluorescence (mu-SRXRF) and tomography (mu-SRXRFT) techniques. Scanning mu-SRXRF measurements show Cd elemental distribution within single fly ash particles to be inhomogeneous, but no information can be obtained about its internal distribution. During mu-SRXRFT analysis, single fly ash particles are successively measured by a rotational-translational scan in a VH = 2 x 5 mum(2) microbeam. The 2D internal elemental distribution images, obtained by the modified simultaneous algebraic reconstruction technique algorithm, provide the size and the location of Cd-containing areas together with the location of other measurable elements. Results showed Cd concentration to be higher in the core of the fly ash particles analyzed rather than on the surface of the particles. Moreover, in both ashes, Ca-containing matrixes are found to be the main Cd-bearing phases. A possible mechanism for Cd adsorption on the fly ash particles is proposed based on the obtained results.
|
|
| 12. |
- Gatt, Rafael, 1960, et al.
(författare)
-
Pressure effect in the Hg-based superconductors: A structural study
- 1998
-
Ingår i: Physical Review B. - 2469-9969 .- 2469-9950. ; 57:21, s. 13922-13928
-
Tidskriftsartikel (refereegranskat)abstract
- Energy-dispersive synchrotron x-ray-diffraction studies were performed on powder samples of Hg1212 and Hg1223 in a diamond-anvil cell at pressure up to 300 kbar. High compressibility was found. A reversible structural transition was observed, which is suggested to correspond to a pressure-induced ordering along the c axis. The accommodation of the Ba ion at high pressure is studied, and the effect it might have on the electronic structure of these materials is discussed by employing results from cluster calculations.
|
|
| 13. |
- Karlsson, Maths, 1978, et al.
(författare)
-
Structure of Proton-Conducting Alkali Thio-Hydroxogermanates
- 2008
-
Ingår i: Chemistry of Materials. - : American Chemical Society (ACS). - 1520-5002 .- 0897-4756. ; 20:19, s. 6014-6021
-
Tidskriftsartikel (refereegranskat)abstract
- Using a combination of neutron diffraction, infrared spectroscopy, and first-principles calculations, we have investigated the structure of hydrated and dehydrated proton conducting alkali thio-hydroxogermanates of general formula M2GeS2(OH)2·yH2O (M = K, Rb, and Cs). The results show that the structure of hydrated and dry materials are basically the same, which confirms previous indications that the main effect of heating these materials is just a loss of water. We suggest that in the hydrated state the structure of these materials is built of dimers of thio-hydroxogermanate anions, with the water molecules acting as bridges between such dimers. In the dehydrated structure, the thio-hydroxogermanate anions instead form an extended network through the formation of interdimer hydrogen bonds through the −OH groups in the structure. The alkali ions are suggested to act as “space-fillers” in voids formed by the thio-hydroxogermanate anion dimers, in both the hydrated and the dehydrated state.
|
|
| 14. |
- Mattsson, A, et al.
(författare)
-
MODEL STUDIES OF THE CHEMISORPTION OF HYDROGEN AND OXYGEN ON CU(100)
- 1987
-
Ingår i: Physical Review B. - 2469-9969 .- 2469-9950. ; 36:14, s. 7389-7401
-
Tidskriftsartikel (refereegranskat)abstract
- Atomic chemisorption of hydrogen and oxygen on Cu(100) has been studied using up to 25 copper atoms as a model of the surface. The computational procedure used involves a reduction of the metal atoms to one-electron systems and extensive configuration-interaction calculations of the adsorbate and the cluster-adsorbate bonds. The calculations support the fourfold hollow site as the preferred chemisorption site for oxygen, with a barrier-to-surface migration of 25 kcal/mol. The calculated chemisorption energies for both hydrogen and oxygen, 51 and 90 kcal/mol, respectively, are in good agreement with experimental estimates (56 kcal/mol for hydrogen and 97 kcal/mol for oxygen). The effects of reducing the metal atoms to one-electron systems have been investigated through comparisons with all-electron calculations for Cu5H and Cu5O at the self-consistent-field level and by comparisons to previous calculations on Cu5Cl and Cu9Cl in which the 3d electrons were treated explicitly.
|
|
| 15. |
|
|
