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Träfflista för sökning "WFRF:(Millar P.) srt2:(2000-2004)"

Sökning: WFRF:(Millar P.) > (2000-2004)

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1.
  • Cameron, D., et al. (författare)
  • Replica Management in the European Data Grid Project
  • 2004
  • Ingår i: Journal of Grid Computing. - 1570-7873 .- 1572-9184. ; 2:4, s. 341-351
  • 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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3.
  • Millar, D S, et al. (författare)
  • Molecular genetic analysis of severe protein C deficiency
  • 2000
  • Ingår i: Human Genetics. - : Springer Science and Business Media LLC. - 1432-1203 .- 0340-6717. ; 106:6, s. 646-653
  • Tidskriftsartikel (refereegranskat)abstract
    • Severe protein C deficiency is a rare, early onset, venous thrombotic condition that is inherited as an autosomal recessive trait. The protein C (PROC) genes of nine unrelated individuals with severe protein C deficiency were sequenced yielding a total of 13 different lesions. Eight of these were novel, including a gross gene deletion, three missense mutations, two micro-deletions, a splicing mutation and a single base-pair substitution in the HNF-3 binding site in the PROC gene promoter. Evidence for the pathogenicity of the mutations detected was obtained by molecular modelling, in vitro splicing assay and reporter gene assay. Neither the plasma protein C activity level nor the nature of the PROC gene lesions detected were found to be a good prognostic indicator of the age of onset or clinical severity of thrombotic symptoms. Other factors may thus complicate the relationship between genotype and clinical phenotype. Indeed, in two patients, the inheritance of either one or two Factor V Leiden alleles in addition to two PROC gene lesions could have served to precipitate the thrombotic events. No association was however apparent between clinical severity and the possession of a particular promoter polymorphism genotype. Despite the absence of a clear genotype-phenotype relationship, the molecular genetic analysis of the severe recessive form of protein C deficiency potentiates both the counselling of affected families and the provision of antenatal exclusion diagnosis.
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