| 1. |
- Aaron, F. D., et al.
(författare)
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Combined measurement and QCD analysis of the inclusive e(+/-)p scattering cross sections at HERA
- 2010
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Ingår i: Journal of High Energy Physics. - 1029-8479. ; :1
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Tidskriftsartikel (refereegranskat)abstract
- A combination is presented of the inclusive deep inelastic cross sections measured by the H1 and ZEUS Collaborations in neutral and charged current unpolarised e(+/-)p scattering at HERA during the period 1994-2000. The data span six orders of magnitude in negative four-momentum-transfer squared, Q(2), and in Bjorken x. The combination method used takes the correlations of systematic uncertainties into account, resulting in an improved accuracy. The combined data are the sole input in a NLO QCD analysis which determines a new set of parton distributions, HERAPDF1.0, with small experimental uncertainties. This set includes an estimate of the model and parametrisation uncertainties of the fit result.
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| 2. |
- Aaron, F. D., et al.
(författare)
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Events with an isolated lepton and missing transverse momentum and measurement of W production at HERA
- 2010
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Ingår i: Journal of High Energy Physics. - 1029-8479. ; 2010:3, s. 1-19
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Tidskriftsartikel (refereegranskat)abstract
- A search for events containing an isolated electron or muon and missing trans verse momentum produced in e(+/-)p collisions is performed with the H1 and ZEUS detectors at HERA. The data were taken in the period 1994-2007 and correspond to an integrated luminosity of 0.98 fb(-1). The observed event yields are in good overall agreement with the Standard Model prediction, which is dominated by single W production. In the e(+)p data, at large hadronic transverse momentum P-T(X) > 25GeV, a total of 23 events are observed compared to a prediction of 14.0 +/- 1.9. The total single W boson production cross section is measured as 1.06 +/- 0.16 (stat.) +/- 0.07 (sys.) pb, in agreement with an Standard Model (SM) expectation of 1.26 +/- 0.19 pb.
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| 3. |
- Anney, Richard, et al.
(författare)
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A genome-wide scan for common alleles affecting risk for autism.
- 2010
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 19:20, s. 4072-4082
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Tidskriftsartikel (refereegranskat)abstract
- Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10(-8). When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10(-8) threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.
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| 4. |
- Pinto, Dalila, et al.
(författare)
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Functional impact of global rare copy number variation in autism spectrum disorders.
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 466:7304, s. 368-372
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Tidskriftsartikel (refereegranskat)abstract
- The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviours. Individuals with an ASD vary greatly in cognitive development, which can range from above average to intellectual disability. Although ASDs are known to be highly heritable ( approximately 90%), the underlying genetic determinants are still largely unknown. Here we analysed the genome-wide characteristics of rare (<1% frequency) copy number variation in ASD using dense genotyping arrays. When comparing 996 ASD individuals of European ancestry to 1,287 matched controls, cases were found to carry a higher global burden of rare, genic copy number variants (CNVs) (1.19 fold, P = 0.012), especially so for loci previously implicated in either ASD and/or intellectual disability (1.69 fold, P = 3.4 x 10(-4)). Among the CNVs there were numerous de novo and inherited events, sometimes in combination in a given family, implicating many novel ASD genes such as SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53-PTCHD1 locus. We also discovered an enrichment of CNVs disrupting functional gene sets involved in cellular proliferation, projection and motility, and GTPase/Ras signalling. Our results reveal many new genetic and functional targets in ASD that may lead to final connected pathways.
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| 5. |
- Rafiq, M. A., et al.
(författare)
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Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan
- 2010
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Ingår i: Clinical Genetics. - : Wiley. - 0009-9163 .- 1399-0004. ; 78:5, s. 478-483
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Tidskriftsartikel (refereegranskat)abstract
- To date, of 13 loci with linkage to non-syndromic autosomal recessive mental retardation (NS-ARMR), only six genes have been established with associated mutations. Here we present our study on NS-ARMR among the Pakistani population, where people are traditionally bound to marry within the family or the wider clan. In an exceptional, far-reaching genetic survey we have collected more than 50 consanguineous families exhibiting clinical symptoms/phenotypes of NS-ARMR. In the first step, nine families (MR2-9 and MR11) with multiple affected individuals were selected for molecular genetic studies. Two families (MR3, MR4) showed linkage to already know NS-ARMR loci. Fifteen affected and 10 unaffected individuals from six (MR2, MR6, MR7, MR8, MR9 and MR11) families were genotyped by using Affymetrix 5.0 or 6.0 single-nucleotide polymorphism (SNP) microarrays. SNP microarray data was visually inspected by dChip and genome-wide homozygosity analysis was performed by HomozygosityMapper. Additional mapping was performed (to exclude false-positive regions of homozygosity called by HomozygosityMapper and dChip) on all available affected and unaffected members in seven NS-ARMR families, using microsatellite markers. In this manner we were able to map three novel loci in seven different families originating from different areas of Pakistan. Two families (MR2, MR5) showed linkage on chromosome 2p25.3-p25.2. Three families (MR7, MR8, and MR9) that have been collected from the same village and belong to the same clan were mapped on chromosome 9q34.3. MR11 maps to a locus on 9p23-p13.3. Analysis of MR6 showed two positive loci, on chromosome 1q23.2-q23.3 and 8q24.21-q24.23. Genotyping in additional family members has so far narrowed, but not excluded the 1q locus. In summary, through this study we have identified three new loci for NS-ARMR, namely MRT14, 15 and 16.
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| 6. |
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| 7. |
- Elliott, James A., et al.
(författare)
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Diabetes Self-Management and Education of People Living with Diabetes : A Survey in Primary Health Care in Muscat Oman
- 2013
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Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 8:2, s. e57400-
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Tidskriftsartikel (refereegranskat)abstract
- Background: Although the prevalence of type 2 diabetes in Oman is high and rising, information on how people were self-managing their disease has been lacking. The objective of this study was therefore to assess diabetes self-management and education (DSME) among people living with type 2 diabetes in Oman. Methods: A questionnaire survey was conducted in public primary health care centres in Muscat. Diabetes self-management and education was assessed by asking how patients recognized and responded to hypo- and hyperglycaemia, and if they had developed strategies to maintain stable blood glucose levels. Patients' demographic information, self-treatment behaviours, awareness of potential long-term complications, and attitudes concerning diabetes management were also recorded. Associations between these factors and diabetes self-management and education were analysed. Results: In total, 309 patients were surveyed. A quarter (26%, n = 83) were unaware how to recognize hypoglycaemia or respond to it (26%, n = 81). Around half (49%, n = 151), could not recognize hyperglycaemia and more than half could not respond to it (60%, n = 184). Twelve percent (n = 37) of the patients did not have any strategies to stabilize their blood glucose levels. Patients with formal education generally had more diabetes self-management and education than those without (p<0.001), as had patients with longer durations of diabetes (p<0.01). Self-monitoring of blood glucose was practiced by 38% (n = 117) of the patients, and insulin was used by 22% (n = 67), of which about one third independently adjusted dosages. Patients were most often aware of complications concerning loss of vision, renal failure and cardiac problems. Many patients desired further health education. Conclusions: Many patients displayed dangerous diabetes self-management and education knowledge gaps. The findings suggest a need for improving knowledge transfer to people living with diabetes in the Omani clinical setting.
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| 8. |
- Saunders, N. R., et al.
(författare)
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Age-Dependent Transcriptome and Proteome Following Transection of Neonatal Spinal Cord of Monodelphis domestica (South American Grey Short-Tailed Opossum)
- 2014
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Ingår i: Plos One. - : Public Library of Science (PLoS). - 1932-6203. ; 9:6
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Tidskriftsartikel (refereegranskat)abstract
- This study describes a combined transcriptome and proteome analysis of Monodelphis domestica response to spinal cord injury at two different postnatal ages. Previously we showed that complete transection at postnatal day 7 (P7) is followed by profuse axon growth across the lesion with near-normal locomotion and swimming when adult. In contrast, at P28 there is no axon growth across the lesion, the animals exhibit weight-bearing locomotion, but cannot use hind limbs when swimming. Here we examined changes in gene and protein expression in the segment of spinal cord rostral to the lesion at 24 h after transection at P7 and at P28. Following injury at P7 only forty genes changed (all increased expression); most were immune/inflammatory genes. Following injury at P28 many more genes changed their expression and the magnitude of change for some genes was strikingly greater. Again many were associated with the immune/inflammation response. In functional groups known to be inhibitory to regeneration in adult cords the expression changes were generally muted, in some cases opposite to that required to account for neurite inhibition. For example myelin basic protein expression was reduced following injury at P28 both at the gene and protein levels. Only four genes from families with extracellular matrix functions thought to influence neurite outgrowth in adult injured cords showed substantial changes in expression following injury at P28: Olfactomedin 4 (Olfm4, 480 fold compared to controls), matrix metallopeptidase (Mmp1, 104 fold), papilin (Papln, 152 fold) and integrin alpha 4 (Itga4, 57 fold). These data provide a resource for investigation of a priori hypotheses in future studies of mechanisms of spinal cord regeneration in immature animals compared to lack of regeneration at more mature stages.
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| 9. |
- Ahmad, Noor Azlinda, et al.
(författare)
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Characteristics of narrow bipolar pulses observed in Malaysia
- 2010
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Ingår i: Journal of Atmospheric and Solar-Terrestrial Physics. - : Elsevier BV. - 1364-6826 .- 1879-1824. ; 72:5-6, s. 534-540
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Tidskriftsartikel (refereegranskat)abstract
- Narrow bipolar pulses (NBPs) are considered as isolated intracloud events with higher peak amplitude and strong high frequency emission compared to the first return strokes and other intracloud discharges. From 182 NBPs recorded in Malaysia in the tropic, 75 were narrow negative bipolar pulses (NNBPs) while 107 were narrow positive bipolar pulses (NPBPs). The mean duration of NNBPs was 24.6 +/- 17.1 mu s, while 30.2 +/- 12.3 mu s was observed for NPBPs. The mean full-width at half-maximum (FVVHM) was 2.2 +/- 0.7 and 2.4 +/- 1.4 mu s for NNBPs and NPBPs, respectively. The mean peak amplitude of NPBPs normalized to 100 km was 22.7 V/m, a factor of 1.3 higher than that of NNBPs which is 17.6 V/m. In contrast to the previous studies, it was observed that the electric field change was characterized by a bipolar pulse with a significant amount of fine structures separated by a few tens of nanoseconds intervals, embedded on it. (C) 2010 Elsevier Ltd. All rights reserved.
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| 10. |
- Ahmad, Noor Azlinda, et al.
(författare)
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The first electric field pulse of cloud and cloud-to-ground lightning discharges
- 2010
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Ingår i: Journal of Atmospheric and Solar-Terrestrial Physics. - : Elsevier BV. - 1364-6826 .- 1879-1824. ; 72:2-3, s. 143-150
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Tidskriftsartikel (refereegranskat)abstract
- In this study, the first electric field pulse of cloud and cloud-to-ground discharges were analyzed and compared with other pulses of cloud discharges. Thirty eight cloud discharges and 101 cloud-to-ground discharges have been studied in this analysis. Pulses in cloud discharges were classified as [`]small', [`]medium' and [`]large', depending upon the value of their relative amplitude with respect to that of the average amplitude of the five largest pulses in the flash. We found that parameters, such as pulse duration, rise time, zero crossing time and full-width at half-maximum (FWHMs) of the first pulse of cloud and cloud-to-ground discharges are similar to small pulses that appear in the later stage of cloud discharges. Hence, we suggest that the mechanism of the first pulse of cloud and cloud-to-ground discharges and the mechanism of pulses at the later stage of cloud discharges could be the same.
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