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Träfflista för sökning "WFRF:(Collins ) srt2:(1995-1999)"

Search: WFRF:(Collins ) > (1995-1999)

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  • Antonarakis, S. E., et al. (author)
  • Factor VIII gene inversions in severe hemophilia A : Results of an international consortium study
  • 1995
  • In: Blood. - : American Society of Hematology. - 0006-4971 .- 1528-0020. ; 86:6, s. 2206-2212
  • Journal article (peer-reviewed)abstract
    • Twenty-two molecular diagnostic laboratories from 14 countries participated in a consortium study to estimate the impact of Factor VIII gene inversions in severe hemophilia A. A total of 2,093 patients with severe hemophilia A were studied; of those, 740 (35%) had a type 1 (distal) factor VIII inversion, and 140 (7%) showed a type 2 (proximal) inversion. In 25 cases, the molecular analysis showed additional abnormal or polymorphic patterns. Ninety-eight percent of 532 mothers of patients with inversions were carriers of the abnormal factor VIII gene; when only mothers of nonfamilial cases were studied, 9 de novo inversions in maternal germ cells ware observed among 225 cases (≃ 1 de novo maternal origin of the inversion in 25 mothers of sporadic cases). When the maternal grandparental origin was examined, the inversions occurred de novo in male germ cells in 69 cases and female germ cells in 1 case. The presence of factor VIII inversions is not a major predisposing factor for the development of factor VIII inhibitors; however, slightly more patients with severe hemophilia A and factor VIII inversions develop inhibitors (130 of 642 [20%]) than patients with severe hemophilia A without inversions (131 of 821 [16%]).
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  • Collins, A R, et al. (author)
  • Cystatin D, a natural salivary cysteine protease inhibitor, inhibits coronavirus replication at its physiologic concentration
  • 1998
  • In: Oral Microbiology and Immunology. - : Wiley. - 0902-0055 .- 1399-302X. ; 13:1, s. 59-61
  • Journal article (peer-reviewed)abstract
    • This study was conducted to examine the effect of cystatin D, a newly discovered salivary cysteine protease inhibitor, on human coronavirus replication. When MRC-5, human diploid lung cells, were incubated with dilutions of recombinant human cystatin D from 0.65-10 microM for 1 h prior to, during and after infection with coronavirus OC43 and 229e strains, a decrease in virus yield was observed resulting in an IC50 of 0.8 microM for both virus strains. This dose is within the normal concentration range of cystatin D, 0.12-1.9 microM found in saliva. When a single dose, 2.5 microM, was applied, cystatin inhibition of release of virus progeny was not overcome until three days post infection whereas inhibition by leupeptin, a serine and cysteine protease inhibitor, was completely abrogated by two days. When cellular toxicity was measured by 3H-thymidine uptake, cystatin D did not markedly affect cell proliferation below a 10 microM dose. The results demonstrate that cystatin D is a potent inhibitor of coronavirus replication.
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  • Dunham, I, et al. (author)
  • The DNA sequence of human chromosome 22
  • 1999
  • In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 402:6761, s. 489-495
  • Journal article (peer-reviewed)
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  • Result 1-25 of 55

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