| 1. |
- Clark, Andrew G., et al.
(författare)
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Evolution of genes and genomes on the Drosophila phylogeny
- 2007
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 450:7167, s. 203-218
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Tidskriftsartikel (refereegranskat)abstract
- Comparative analysis of multiple genomes in a phylogenetic framework dramatically improves the precision and sensitivity of evolutionary inference, producing more robust results than single-genome analyses can provide. The genomes of 12 Drosophila species, ten of which are presented here for the first time (sechellia, simulans, yakuba, erecta, ananassae, persimilis, willistoni, mojavensis, virilis and grimshawi), illustrate how rates and patterns of sequence divergence across taxa can illuminate evolutionary processes on a genomic scale. These genome sequences augment the formidable genetic tools that have made Drosophila melanogaster a pre-eminent model for animal genetics, and will further catalyse fundamental research on mechanisms of development, cell biology, genetics, disease, neurobiology, behaviour, physiology and evolution. Despite remarkable similarities among these Drosophila species, we identified many putatively non-neutral changes in protein-coding genes, non-coding RNA genes, and cis-regulatory regions. These may prove to underlie differences in the ecology and behaviour of these diverse species.
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| 2. |
- Green, J. A., et al.
(författare)
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The 6-GHz multibeam maser survey-I. Techniques
- 2009
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Ingår i: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 392:2, s. 783-794
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Tidskriftsartikel (refereegranskat)
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| 3. |
- Smith, A., et al.
(författare)
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LunarEX-a proposal to cosmic vision
- 2009
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Ingår i: Experimental Astronomy. - : Springer Science and Business Media LLC. - 0922-6435 .- 1572-9508. ; 23:3, s. 711-740
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Tidskriftsartikel (refereegranskat)
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| 4. |
- Wollersheim, HJ, et al.
(författare)
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Rare ISotopes INvestigation at GSI (RISING) Using Gamma-ray Spectroscopy at Relativistic Energies
- 2005
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Ingår i: Nuclear Instruments & Methods in Physics Research. Section A: Accelerators, Spectrometers, Detectors, and Associated Equipment. - : Elsevier BV. - 0167-5087 .- 0168-9002. ; 537:3, s. 637-657
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Tidskriftsartikel (refereegranskat)abstract
- The Rare ISotopes INvestigation at GSI project combines the former EUROBALL Ge-Cluster detectors, the MINIBALL Ge detectors, BaF2--HECTOR detectors, and the fragment separator at GSI for high-resolution in-beam gamma-ray spectroscopy measurements with radioactive beams. These secondary beams produced at relativistic energies are used for Coulomb excitation or secondary fragmentation experiments in order to explore the nuclear structure of the projectiles or projectile like nuclei by measuring de-excitation photons. The newly designed detector array is described and the performance characteristics are given. Moreover, particularities of the experimental technique are discussed.
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| 5. |
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| 6. |
- Jones, C, et al.
(författare)
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Precipitants of post-traumatic stress disorder following intensive care: a hypothesis generating study of diversity in care.
- 2007
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Ingår i: Intensive care medicine. - : Springer Science and Business Media LLC. - 0342-4642 .- 1432-1238. ; 33:6, s. 978-85
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Tidskriftsartikel (refereegranskat)abstract
- This prospective observational study was designed to explore the relationships between post-traumatic stress disorder (PTSD), patients' memories of the intensive care unit (ICU) and sedation practices.Prospective multi-centre follow-up study out to 3 months after ICU discharge.Two district general hospitals and three teaching hospitals across Europe.Two hundred and thirty-eight recovering, post-ventilated ICU patients.None.Assessment of patients' memories of ICU was undertaken at 1-2 weeks post ICU discharge. Patients' psychological recovery was assessed by examining the level of PTSD-related symptoms and rate of PTSD by 3 months post ICU. The rate of defined PTSD was 9.2%, ranging from 3.2% to 14.8% in the different study ICUs. Independent of case mix and illness severity, the factors found to be related to the development of PTSD were recall of delusional memories, prolonged sedation, and physical restraint with no sedation.The development of PTSD following critical illness is associated with a number of different precipitating factors that are in part related to how patients are cared for within intensive care. This study raises the hypothesis that the impact of care within the ICU has an impact on subsequent psychological morbidity and therefore must be assessed in future studies looking at the way patients are sedated in the ICU and how physical restraint is used.
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| 7. |
- Mantripragada, K K, et al.
(författare)
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Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.
- 2006
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Ingår i: Journal of medical genetics. - : BMJ. - 1468-6244 .- 0022-2593. ; 43:1, s. 28-38
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Segmental duplications flanking the neurofibromatosis type 1 (NF1) gene locus on 17q11 mediate most gene deletions in NF1 patients. However, the large size of the gene and the complexity of the locus architecture pose difficulties in deletion analysis. We report the construction and application of the first NF1 locus specific microarray, covering 2.24 Mb of 17q11, using a non-redundant approach for array design. The average resolution of analysis for the array is approximately 12 kb per measurement point with an increased average resolution of 6.4 kb for the NF1 gene. METHODS: We performed a comprehensive array-CGH analysis of 161 NF1 derived samples and identified heterozygous deletions of various sizes in 39 cases. The typical deletion was identified in 26 cases, whereas 13 samples showed atypical deletion profiles. RESULTS: The size of the atypical deletions, contained within the segment covered by the array, ranged from 6 kb to 1.6 Mb and their breakpoints could be accurately determined. Moreover, 10 atypical deletions were observed to share a common breakpoint either on the proximal or distal end of the deletion. The deletions identified by array-CGH were independently confirmed using multiplex ligation-dependent probe amplification. Bioinformatic analysis of the entire locus identified 33 segmental duplications. CONCLUSIONS: We show that at least one of these segmental duplications, which borders the proximal breakpoint located within the NF1 intron 1 in five atypical deletions, might represent a novel hot spot for deletions. Our array constitutes a novel and reliable tool offering significantly improved diagnostics for this common disorder.
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| 8. |
- Paulsson, Kajsa, et al.
(författare)
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Methylation of tumour suppressor gene promoters in the presence and absence of transcriptional silencing in high hyperdiploid acute lymphoblastic leukaemia
- 2009
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Ingår i: British Journal of Haematology. - : Wiley. - 0007-1048 .- 1365-2141. ; 144:6, s. 838-847
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Tidskriftsartikel (refereegranskat)abstract
- Promoter methylation is a common phenomenon in tumours, including haematological malignancies. In the present study, we investigated 36 cases of high hyperdiploid (> 50 chromosomes) acute lymphoblastic leukaemia (ALL) with methylation-specific multiplex ligase-dependent probe amplification to determine the extent of aberrant methylation in this subgroup. The analysis, which comprised the promoters of 35 known tumour suppressor genes, showed that 16 genes displayed abnormal methylation in at least one case each. The highest number of methylated gene promoters seen in a single case was thirteen, with all but one case displaying methylation for at least one gene. The most common targets were ESR1 (29/36 cases; 81%), CADM1 (IGSF4, TSLC1; 25/36 cases; 69%), FHIT (24/36 cases; 67%) and RARB (22/36 cases; 61%). Interestingly, quantitative reverse transcription-polymerase chain reaction showed that although methylation of the CADM1 and RARB promoters resulted in the expected pattern of downregulation of the respective genes, no difference could be detected in FHIT expression between methylation-positive and -negative cases. Furthermore, TIMP3 was not expressed regardless of methylation status, showing that aberrant methylation does not always lead to gene expression changes. Taken together, our findings suggest that aberrant methylation of tumour suppressor gene promoters is a common phenomenon in high hyperdiploid ALL.
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