| 1. |
- 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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| 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. |
- Adams, JM, et al.
(författare)
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Overview of JET results in support of the ITER physics basis
- 2001
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Ingår i: NUCLEAR FUSION. - : INT ATOMIC ENERGY AGENCY. ; 41:10
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- The JET experimental campaign has focused on studies in support of the ITER physics basis. An overview of the results obtained is given for the reference ELMy H mode and advanced scenarios, which in JET are based on internal transport barriers. JET studi
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| 4. |
- Hedén, Bo, et al.
(författare)
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A modified Anderson-Wilkins electrocardiographic acuteness score for anterior or inferior myocardial infarction.
- 2003
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Ingår i: American Heart Journal. - 1097-6744. ; 146:5, s. 797-803
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Tidskriftsartikel (refereegranskat)abstract
- Background Optimal treatment of acute myocardial infarction (AMI) depends on the duration of the ischemia. The Anderson Wilkins (AW) electrocardiographic acuteness score has been shown to complement the historical timing in estimating the time interval from acute thrombotic coronary occlusion in patients presenting with chest pain and evolving myocardial infarction. The purposes of this study were to (1) compare the distributions of the previously developed AW acuteness score in a training population with either anterior or inferior AMI and (2) propose modifications to the formula to achieve distributions similar to the observed distributions of historical times from onset of pain. Methods Two hundred three and 177 patients were included as training and testing population, respectively. All patients had an anterior or an inferior AMI and were without confounding factors on the electrocardiogram. Results The training population had similar distributions of historical times from onset of pain, but differences in distributions of AW acuteness scores, between patients with anterior and inferior AMI (P<.0001). Eighty percent of the inferior AMI group had the highest possible AW acuteness score. Modification of a Q-wave criterion from &GE;30 to &GE;20 ms resulted in similar distributions in patients with anterior and inferior AMI both in the training and an independent testing population. Conclusions These results suggest that a modified AW acuteness score using a lower Q-wave duration criterion provides similar AMI timing information in patients with anterior and inferior locations. Clinical use of the AW acuteness score will only be practical if the calculation is automated
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| 7. |
- Sandor, C., et al.
(författare)
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Visual end user configuration of hybrid user interfaces
- 2004
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Ingår i: Proc. ACM SIGMM Workshop Eff. Telepresence ETP. - New York, NY, USA : ACM. - 1581139330 ; , s. 67-68
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Konferensbidrag (refereegranskat)abstract
- Hybrid user interfaces are a promising paradigm for human-computer interaction, employing a range of displays and devices. However, most experimental hybrid user interfaces use a relatively rigid configuation. Our demo explores the possibilities of end users configuring the setup of a hybrid user interface, using novel interaction techniques and visualizations, based on a shared augmented reality. Copyright 2004 ACM.
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| 8. |
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| 9. |
- 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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