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| 2. |
- Horikawa, Y, et al.
(författare)
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Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus
- 2000
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 26:2, s. 163-175
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Tidskriftsartikel (refereegranskat)abstract
- Type 2 or non-insulin-dependent diabetes mellitus (NIDDM) is the most common form of diabetes worldwide, affecting approximately 4% of the world's adult population. It is multifactorial in origin with both genetic and environmental factors contributing to its development. A genome-wide screen for type 2 diabetes genes carried out in Mexican Americans localized a susceptibility gene, designated NIDDM1, to chromosome 2. Here we describe the positional cloning of a gene located in the NIDDM1 region that shows association with type 2 diabetes in Mexican Americans and a Northern European population from the Botnia region of Finland. This putative diabetes-susceptibility gene encodes a ubiquitously expressed member of the calpain-like cysteine protease family, calpain-10 (CAPN10). This finding suggests a novel pathway that may contribute to the development of type 2 diabetes.
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| 3. |
- Kirby, A J, et al.
(författare)
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Gemini surfactants: New synthetic vectors for gene transfection
- 2003
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Ingår i: Angewandte Chemie International Edition in English. - : Wiley. - 0570-0833 .- 1433-7851 .- 1521-3773. ; 42:13, s. 1448-1457
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Forskningsöversikt (refereegranskat)abstract
- The superior surfactant properties of cationic gemini surfactants are applied to the complex problem of introducing genes into cells. Of almost 250 new compounds tested, of some 20 different structural types, a majority showed very good transfection activity in vitro. The surfactant is shown to bind and compact DNA efficiently, and structural studies and calculations provide a working picture of the lipoplex formed. The lipoplex can penetrate the outer membranes of many cell types, to appear in the cytoplasm encapsulated within endosomes. Escape from the endosome - a key step for transfection - may be controlled by changes in the aggregation behavior of the lipoplex as the pH falls. The evidence suggests that DNA may be released from the lipoplex before entry into the nucleus, where the new gene can be expressed with high efficiency.
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| 6. |
- Cameron, D., et al.
(författare)
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Replica Management in the European Data Grid Project
- 2004
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Ingår i: Journal of Grid Computing. - 1570-7873 .- 1572-9184. ; 2:4, s. 341-351
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Tidskriftsartikel (refereegranskat)abstract
- Within the European DataGrid project, Work Package 2 has designed and implemented a set of integrated replica management services for use by data intensive scientific applications. These services, based on the web services model, enable movement and replication of data at high speed from one geographical site to another, management of distributed replicated data, optimization of access to data, and the provision of a metadata management tool. In this paper we describe the architecture and implementation of these services and evaluate their performance under demanding Grid conditions.
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| 7. |
- Gustafson, Joakim, et al.
(författare)
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The NICE fairy-tale game system
- 2004
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Ingår i: Proceedings of the 5th SIGdial Workshop on Discourse and Dialogue at HLT-NAACL 2004. - Boston.
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Konferensbidrag (refereegranskat)
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| 8. |
- Lehmann, O. J., et al.
(författare)
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Novel anterior segment phenotypes resulting from forkhead gene alterations: Evidence for cross-species conservation of function
- 2003
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Ingår i: Investigative Ophthalmology & Visual Science. - : Association for Research in Vision and Ophthalmology (ARVO). - 0146-0404 .- 1552-5783. ; 44:6, s. 2627-2633
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE. Mutations in murine and human Versions of an ancestrally related gene usually result in similar phenotypes. However, interspecics differences exist, and in the case of two forkhead transcription factor genes (FOXC1 and FOXC2), these differences include corneal or anterior segment phenotypes, respectively. This study was undertaken to determine whether such discrepancies provide an opportunity for identifying novel human-murine ocular phenotypes. METHODS. Four pedigrees with early-onset glaucoma phenotypes secondary to segmental chromosomal duplications or deletions encompassing FOXC1 and 18 individuals from 9 FOXC2 mutation pedigrees underwent detailed ocular phenotyping. Subsequently, mice with mutations in Foxc1 or a related forkhead gene, Foxe3, were assessed for features of the human phenotypes. RESULTS. A significant increase in central corneal thickness was present in affected individuals from the segmental duplication pedigrees compared with their unaffected relatives (mean increase 13%, maximum 35%, P < 0.05). Alterations in corneal thickness were present in mice heterozygous and homozygous for Foxe3 mutations but neither in Foxc1 heterozygotes nor the small human segmental deletion pedigree. Mutations in FOXC2 resulted in ocular anterior segment anomalies. These were more severe and prevalent with mutations involving the forkhead domain. CONCLUSIONS. Normal corneal development is dependent on the precise dose and levels of activity of certain forkhead transcription factors. The altered corneal thickness attributable to increased forkhead gene dosage is particularly important, because it may affect the clinical management of certain glaucoma subtypes and lead to excessive treatment. The FOXC1 and Foxe3 data, taken together with the novel ocular phenotypes of FOXC2 mutations, highlight the remarkable cross-species conservation of function among forkhead genes.
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| 10. |
- Nesje, M, et al.
(författare)
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Genetic variability in peregrine falcons (Falco peregrinus) analysed by microsatellites.
- 2002
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Ingår i: Raptors in the new Millenium, eds. Yosef,R., Miller, M.L. & Pepler D. International Birding & Research Center in Eilat, Israel.. ; , s. 206-210
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Tidskriftsartikel (refereegranskat)abstract
- Genetic variability and population structure in the endangered Peregrine Falcon (Falco peregrinus) were studied using DNA microsatellite markers. Special emphasis was placed on the subspecies F.p.peregrinus living in Scandinavia and Scotland. The species was almost extirpated as a breeding bird in southeastern Norway and southwestern Sweden in the 1970´s before a recovery programme was initiated. We compared the level of genetic variability of peregrines from the southern area to those found in the northern part of Scandinavia where the decline was less severe. For comparative purposes, three North American peregrine subspecis (F.p.tundrius, F.p.pealei, F.p. anatum) and one Tasmania subspecies (F.p. macropus) were included in this analyses. Twelve DNA microsatellite loci (developed from the peregrine falcon) were analysed across a total of 146 individuals. The amount of genetic variation did not differ in the peregrine populations, except for Tasmania with a significant lower genetic variability. Significant genetic differentiation was found between populations in northern and southern Scandinavia and between the Scandinavian and Scottish populations, while the populations in south-western Norway and south-eastern Sweden did not differ significantly. Analysis of cliff nesting peregrines in northern Sweden and bog nesting peregrines in northern Finland/Sweden suggests that the difference in nesting habitat is not associated with genetic differentiation. Population structuring in F.p.peregrinus is further supported by an assignment test, wherein simulated genotypes are correctly assigned to the northern and southern Scandinavian and Scottish populations with relatively high probabilities, and by analysis of allele-sharing among individuals. Cluster analyses of genetic distances grouped populations of peregrines in accordance with their subspecific designation. F.p.macropus clusters distinctly from the other four subspecies, and peregrines on either side of the Atlantic Ocean were clearly separated. Except for the Tasmanian population, the markers show a high resolving power for parentage and identity analysis, confirming their usefulness as a tool for various research and management purposes over a range of populations and subspecies.
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