| 1. |
- Anderson, Beverley H., et al.
(författare)
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Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
- 2012
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:3, s. 338-342
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Tidskriftsartikel (refereegranskat)abstract
- Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous gamma H2AX-positive cells in cell lines derived from two affected individuals. CTC1 is also a subunit of the alpha-accessory factor (AAF) complex, stimulating the activity of DNA polymerase-alpha primase, the only enzyme known to initiate DNA replication in eukaryotic cells. Thus, CTC1 may have a function in DNA metabolism that is necessary for but not specific to telomeric integrity.
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| 2. |
- Govind, Satish C, et al.
(författare)
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Role of N-terminal pro-brain natriuretic peptide in ST-segment elevation myocardial infarction : experience from a tertiary centre in India.
- 2011
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Ingår i: Critical Pathways in Cardiology. - 1535-282X .- 1535-2811. ; 10:4, s. 180-184
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Role of biomarkers in ST-segment elevation myocardial infarction (STEMI) is paramount, as they aid in diagnosis and gauge prognosis of the disease. In this project, we sought to study the short-term outcome and clinical associates of N-terminal pro-brain natriuretic peptide (NT-proBNP) in the setting of STEMI at a tertiary center in India. METHODS: In all, 173 STEMI patients (mean age: 57 ± 12 years, 38 women) had their NT-proBNP assayed in addition to troponins and high-sensitive C-reactive protein. Subjects were divided according to NT-proBNP levels into 2 groups: group 1 (NT-proBNP ≤100 pg/mL) and group 2 (NT-proBNP >100 pg/mL). RESULTS: NT-proBNP values (pg/mL) were elevated in group 2 (group 1: 61.7 ± 6.2; group 2: 1006.5 ± 990.6, P < 0.0001). Significantly greater number of females had elevated NT-proBNP (P < 0.05) that could be predicted by the duration of chest pain related to STEMI (area under the curve: 0.72), and age at presentation (area under the curve: 0.66). Multiple regression analysis showed a strong inverse association between NT-proBNP and left ventricular ejection fraction and a strong positive association between the peptide and high-sensitive C-reactive protein. A significant positive association was also noted between NT-proBNP and troponin I (all P < 0.05, Global R = 0.47). Diabetes mellitus and/or hypertension, and infarction localization showed no effect on NT-proBNP levels along with death, primary coronary intervention-related bleeding, and arrhythmias, (χ, P = ns). CONCLUSIONS: The data suggest that women are more likely to have increased NT-proBNP while presenting with STEMI. Duration of chest pain and age at presentation are the best predictors of elevated NT-proBNP, though without much bearing on short-term morbidity and mortality.
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| 3. |
- Stajich, Jason E., et al.
(författare)
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Insights into evolution of multicellular fungi from the assembled chromosomes of the mushroom Coprinopsis cinerea (Coprinus cinereus)
- 2010
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Ingår i: Proceedings of the National Academy of Sciences. - : Proceedings of the National Academy of Sciences. - 1091-6490 .- 0027-8424. ; 107:26, s. 11889-11894
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Tidskriftsartikel (refereegranskat)abstract
- The mushroom Coprinopsis cinerea is a classic experimental model for multicellular development in fungi because it grows on defined media, completes its life cycle in 2 weeks, produces some 10(8) synchronized meiocytes, and can be manipulated at all stages in development by mutation and transformation. The 37-megabase genome of C. cinerea was sequenced and assembled into 13 chromosomes. Meiotic recombination rates vary greatly along the chromosomes, and retrotransposons are absent in large regions of the genome with low levels of meiotic recombination. Single-copy genes with identifiable orthologs in other basidiomycetes are predominant in low-recombination regions of the chromosome. In contrast, paralogous multicopy genes are found in the highly recombining regions, including a large family of protein kinases (FunK1) unique to multicellular fungi. Analyses of P450 and hydrophobin gene families confirmed that local gene duplications drive the expansions of paralogous copies and the expansions occur in independent lineages of Agaricomycotina fungi. Gene-expression patterns from microarrays were used to dissect the transcriptional program of dikaryon formation (mating). Several members of the FunK1 kinase family are differentially regulated during sexual morphogenesis, and coordinate regulation of adjacent duplications is rare. The genomes of C. cinerea and Laccaria bicolor, a symbiotic basidiomycete, share extensive regions of synteny. The largest syntenic blocks occur in regions with low meiotic recombination rates, no transposable elements, and tight gene spacing, where orthologous single-copy genes are overrepresented. The chromosome assembly of C. cinerea is an essential resource in understanding the evolution of multicellularity in the fungi.
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| 4. |
- Thippur, Akshaya, et al.
(författare)
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KTH-3D-TOTAL : A 3D dataset for discovering spatial structures for long-term autonomous learning
- 2014
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Ingår i: 2014 13th International Conference on Control Automation Robotics and Vision, ICARCV 2014. - : IEEE. - 9781479951994 ; , s. 1528-1535
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Konferensbidrag (refereegranskat)abstract
- Long-term autonomous learning of human environments entails modelling and generalizing over distinct variations in: object instances in different scenes, and different scenes with respect to space and time. It is crucial for the robot to recognize the structure and context in spatial arrangements and exploit these to learn models which capture the essence of these distinct variations. Table-tops posses a typical structure repeatedly seen in human environments and are identified by characteristics of being personal spaces of diverse functionalities and dynamically changing due to human interactions. In this paper, we present a 3D dataset of 20 office table-tops manually observed and scanned 3 times a day as regularly as possible over 19 days (461 scenes) and subsequently, manually annotated with 18 different object classes, including multiple instances. We analyse the dataset to discover spatial structures and patterns in their variations. The dataset can, for example, be used to study the spatial relations between objects and long-term environment models for applications such as activity recognition, context and functionality estimation and anomaly detection.
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| 5. |
- Bakker, Elisabeth S., et al.
(författare)
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Restoring macrophyte diversity in shallow temperate lakes : biotic versus abiotic constraints
- 2013
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Ingår i: Hydrobiologia. - : Springer Science and Business Media LLC. - 0018-8158 .- 1573-5117. ; 710:1, s. 23-37
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Tidskriftsartikel (refereegranskat)abstract
- Although many lake restoration projects have led to decreased nutrient loads and increased water transparency, the establishment or expansion of macrophytes does not immediately follow the improved abiotic conditions and it is often unclear whether vegetation with high macrophyte diversity will return. We provide an overview of the potential bottlenecks for restoration of submerged macrophyte vegetation with a high biodiversity and focus on the biotic factors, including the availability of propagules, herbivory, plant competition and the role of remnant populations. We found that the potential for restoration in many lakes is large when clear water conditions are met, even though the macrophyte community composition of the early 1900s, the start of human-induced large-scale eutrophication in Northwestern Europe, could not be restored. However, emerging charophytes and species rich vegetation are often lost due to competition with eutrophic species. Disturbances such as herbivory can limit dominance by eutrophic species and improve macrophyte diversity. We conclude that it is imperative to study the role of propagule availability more closely as well as the biotic interactions including herbivory and plant competition. After abiotic conditions are met, these will further determine macrophyte diversity and define what exactly can be restored and what not.
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| 6. |
- Chowdhary, Ramesh, et al.
(författare)
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The osseointegration stimulatory effect of macrogeometry-modified implants : a study in the rabbit
- 2014
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Ingår i: Clinical Oral Implants Research. - : John Wiley & Sons. - 0905-7161 .- 1600-0501. ; 25:9, s. 1051-5
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To investigate the bone stimulatory effect of compression forces through histomorphometric analyses of macrothreaded implants with microthreads in between.MATERIAL AND METHODS: Two sets of turned implants with different macrogeometries were prepared. The test group possessed microthreads in between macrothreads, and the control group had macrothreads only. The two-implant groups were placed in both the femur and the tibiae of 10 rabbits. After 4 weeks, the animals were sacrificed and were subjected to histologic processing and histomorphometry. On the prepared stained sections, the total bone area (BA), new BA and bone-to-implant (BIC) were calculated.RESULTS: The mean new BA% (SD) for the test group in the femur presented significantly higher values compared with the control group, being 32.84 (32.5) ± 6.04 and 27.31 (28.19) ± 5.66, respectively (P = 0.04). There were no differences for the new BA in the tibia or the total BA% for both bone types (P = 0.86, P = 0.131, and P = 0.131, respectively). The mean BIC% (SD) in the femur was 13.66 (11.49) ± 6.86 for the test group and 8.48 (7.92) ± 3.31 for the control group and in the tibia, 11.4 (11.88) ± 4.21 for the test group and 13.91 (12.06) ± 6.07 for the control group, respectively. There was no statistical significance among the groups tested.CONCLUSION: The modified implant macrogeometry with microthreads in between promoted effect in the femur. However, no statistical differences could be seen in the tibia, suggesting that the modification may be more effective in bone with poor bone quality, such as in the maxillary bone.
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| 7. |
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| 8. |
- Martinez-Montero, Saul, et al.
(författare)
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Design and Divergent Synthesis of Aza Nucleosides from a Chiral Imino Sugar
- 2012
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Ingår i: Journal of Organic Chemistry. - : American Chemical Society (ACS). - 0022-3263 .- 1520-6904. ; 77:10, s. 4671-4678
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Tidskriftsartikel (refereegranskat)abstract
- Several novel nucleoside analogues as potential inhibitors of glycosidases and purine nucleoside phosphorylase (PNP) have been synthesized via selective coupling of an appropriate nucleobase at different positions of an orthogonally protected imino sugar as a common precursor. This synthetic strategy offers a straightforward protocol for the assembly of imino sugar containing nucleosides, establishing a new repertoire of molecules as potential therapeutics.
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| 9. |
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