Molecular Biological Analysis of Hereditary Protein S Deficiency
نویسندگان
چکیده
منابع مشابه
Molecular basis of protein S deficiency.
Protein S deficiency (PSD) has been the most difficult to study among the classical inherited thrombophilic factors. This is in part due to the peculiar biology of protein S (PS), which has an anticoagulant role but no enzymatic activity, and because it interacts with plasma components that function in both haemostasis and inflammation. Clinically, it also has been difficult to define and stand...
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Hereditary protein S (PS) deficiency is an independent risk factor for venous thromboembolism. However, the correlation between PS and arterial thrombotic disease, such as cerebral thrombosis, is not clear. The present study focused on the molecular mechanisms underlying ischemic stroke caused by a PS gene mutation in one family. The activity of antithrombin, protein C and PS in the plasma of t...
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Complete selective deficiencies of the complement component C1q are rare genetic disorders which are associated with recurrent infections and a high prevalence of lupus erythematosus-like symptoms. The improvements in molecular biology techniques have facilitated the analysis of such genetic defects to a great extend. To date the basis of C1q deficiencies from 13 families have been studied at t...
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The molecular basis for a hereditary type I protein S (PS) deficiency was investigated. DNA sequence analysis in the proband showed a novel missense mutation substituting Cys (TGT) for Arg474 (CGT) that is a highly conserved amino acid residue among the related proteins. This missense mutation cosegregated with the type I PS deficiency in this family. Transient expression studies showed that th...
متن کاملHereditary protein s deficiency with a history of recurrent myocardial infarction.
Protein S is a vitamin K-dependent plasma protein that inhibits the process of blood coagulation via activation of protein C, another vitamin K-dependent plasma protein A 58-year-old man with hereditary protein S deficiency had repeated attacks of acute myocardial infarction at age 52 and 58 years.
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ژورنال
عنوان ژورنال: Japanese Journal of Thrombosis and Hemostasis
سال: 1996
ISSN: 1880-8808,0915-7441
DOI: 10.2491/jjsth.7.441