Hereditary basis of protein C deficiency (PCD) in thrombosis patients: First report from India

• References

• 1 Esmon CT. Protein C: Biochemistry, physiology and clinical implications. Blood 1983; 62: 1155-1158.
• 2 Nishio M, Koyama T, Nakahara M. et al. Protea-some degradation of protein C and plasmin inhibitor mutants. Thromb Haemost 2008; 100: 405-412.
• 3 Ghosh K, Shetty S, Madkaikar M. et al. Venous thromboembolism in young patients from western India: A study. Clin Appl Thromb Hemost 2001; 7: 158-165.
• 4 Ganguly A, Matthew JR, Prockop DJ. Conformation – sensitive gel elctrophoresis for rapid detection of single –base differences in double stranded PCR products and DNA fragments: Evidence for solvent –induced bends in DNA heteroduplexes. Proc Nat Acad Sci USA 1993; 90: 10325-10329.
• 5 Faioni EM, Hermida J, Rovida E. et al. Type II protein C deficiency: identification and molecular modeling of two natural mutants with low anticoagulants and normal amidolytic activity. Br J Haematol 2000; 108: 265-271.
• 6 Lind B, Wouler W, Solinge V. et al. Splice site mutation in the human protein C gene associated with venous thrombosis: Demonstration of exon skipping by ectopic transcript analysis. Blood 1993; 85: 2423-2432.
• 7 Mather T, Oganessyan V, Hof P. et al. The 2.8 A crystal structure of Gla-domainless activated protein C. EMBO J 1996; 16: 6822-6831.
• 8 Miyata T, Zheng YZ, Sakata T. et al. Three missense mutations in the protein C heavy chain causing type 1 and type II protein C deficiency. Thromb Haemost 1994; 71: 32-37.
• 9 Mesters RM, Heeb MJ, Griffin JH. A novel exosite in the light chain of human activated protein C essential for interaction with blood coagulation factor Va. Biochem 1993; 30: 12656-12663.
• 10 Miyata T, Sakata T, Zheng YZ. et al.. Genetic characterization of protein C deficiency In Japanese subjects using a rapid and nonradioactive method for single-strand conformational polymorphism analysis and a model building. Thromb Heamost 1996; 70: 302-311.
• 11 Naito M, Mimuro J, Endo H. et al. Defective sorting to secretory vesicles in trans-golgi network is partly responsible for protein C deficiency. Molecular mechanisms of impaired secretion of abnormal protein C R169W, R352W and G376D. Circulation Res 2003; 92: 865-872.
• 12 Nalian A, Iakhiaev AV. Possible mechanisms contributing to oxidative inactivation of activated protein C: molecular dynamics study. Thromb Haemost 2008; 100: 18-25.
• 13 Sugahara Y, Miura O, Yuen P. et al. Hereditary protein C deficiency caused by two mutant alleles, a 5– nucleotide deletion and a missense mutation. Blood 1992; 80: 126-133.
• 14 Yamamoto K, Tanimoto M, Emi N. et al. Impaired Secretion of the elongated mutant of protein C (protein C- Nagoya). Molecular and cellular basis for hereditary protein C deficiency. J Clin Invest 1992; 90: 2439-2446.
• 15 Tsay W, Shen MC. R147W mutation of PROC gene is common in venous thrombotic patients in Taiwanese Chinese. Am J Haematol 2004; 76: 8-13.
• 16 Humphries S, Temple A, Lane A. et al. Low plasma levels of factor VIIc and antigen are more strongly associated with the 10 base pair promoter (-323) insertion than the glutamine 353 variant. Thromb Haemost 1996; 75: 567-572.
• 17 Jorgensen MJ, Cantor AB, Furie BC. et al. Expression of completely gamma-carboxylated recombinant human prothrombin. J Biol Chem 1987; 262: 6729-6734.
• 18 Jorgensen MJ, Cantor AB, Furie BC. et al. Recognition site directing vitamin K-dependent gamma-carboxylation resides on the propeptide of factor IX. Cell 1987; 30: 185-191.
• 19 Hagen FS, Gray CL, O’Hara P. et al. Characterization of a cDna coding for human factor VII. Proc Natl Acad Sci USA 1986; 83: 2412-2416.