• indicates
  • Thus, lathosterol 5-dehydrogenase is equally active which indicates that homozygotes liver microsomes are viable. (jci.org)
  • However, vascular episodes were absent in up to 40% of the 67 homozygotes for the G20210A described so far, which indicates that the clinical expression depends on additional risk/trigger factors. (biomedcentral.com)
  • The clinical history of six homozygotes for the FII G20210A variant studied by our group, among which the first pair of siblings described so far, indicates that the clinical outcome of these subjects is strongly heterogeneous, and that both trigger and protective factors may be involved. (biomedcentral.com)
  • protein
  • The introduction of the double bond in lathosterol at C-5 to form 7-dehydrocholesterol that is catalyzed by lathosterol-5-dehydrogenase was equally rapid in controls and homozygotes liver microsomes (120 +/- 8 vs 100 +/- 7 pmol/mg protein per min, P = NS). (jci.org)
  • Whereas l7Rn6 mRNA levels were indistinguishable from wild type, l7Rn6 4234SB homozygotes exhibited decreased expression of the truncated protein, suggesting protein instability. (genetics.org)
  • activity
  • Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. (jci.org)
  • Laboratory revealed she was homozygote for FII G20210A, with a normal activity of ATIII, PC and PS, the absence of the Factor V Leiden (FVL) and methylenetetrahydrofolate reductase (MTHFR) C677T variant and the absence of antiphospholipid syndrome. (biomedcentral.com)