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

Search: WFRF:(Inaba K) > (1995-1999)

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1.
  • 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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2.
  • Nagel, Peter, et al. (author)
  • C60 one- and two-dimensional polymers, dimers, and hard fullerite: Thermal expansion, anharmonicity, and kinetics of depolymerization
  • 1999
  • In: Physical Review B. Condensed Matter and Materials Physics. - : American Physical Society. - 1098-0121 .- 1550-235X. ; 60:24, s. 16920-16927
  • Journal article (peer-reviewed)abstract
    • We report on high-resolution thermal expansion measurements of high-temperature-pressure treated C60 [one-dimensional (1D) and (2D) polymers and “hard fullerite”], as well as of C60 dimers and single crystal monomer C60 between 10 and 500 K. Polymerization drastically reduces the thermal expansivity from the values of monomeric C60 due to the stronger and less anharmonic covalent bonds between molecules. The expansivity of the “hard” material approaches that of diamond. The large and irreversible volume change upon depolymerization between 400 and 500 K makes it possible to study the kinetics of depolymerization, which is described excellently by a simple activated process, with activation energies of 1.9±0.1 eV (1D and 2D polymers) and 1.75±0.05 eV (dimer). Although the activation energies are very similar for the different polymers, the depolymerization rates differ by up to four orders of magnitude at a given temperature, being fastest for the dimers. Preliminary kinetic data of C70 polymers are presented as well.
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