A case of deficiency of plasma plasminogen activator inhibitor-1 related to Ala15Thr mutation in its signal peptide

Blood Coagulation and Fibrinolysis

Volumn 16, Issue 1, 2005, Pages 79-84

  Zhang, Zi Yan ^a   Wang, Zhao Yue ^a   Dong, Ning Zheng ^a   Bai, Xia ^a   Zhang, Wei ^a   Ruan, Chang Geng ^a  

^a THE FIRST AFFILIATED HOSPITAL OF SOOCHOW UNIVERSITY   (China)

Author keywords

Gene mutation; Plasminogen activator inhibitor 1 deficiency; Polymerase chain reaction; Signal peptide

Indexed keywords

4 AMINOMETHYLBENZOIC ACID; ALANINE; ALPHA 2 ANTIPLASMIN; BLOOD GROUP ANTIGEN; ENDONUCLEASE; PLASMA PROTEIN; PLASMINOGEN ACTIVATOR INHIBITOR 1; SIGNAL PEPTIDE; THREONINE; TISSUE PLASMINOGEN ACTIVATOR;

ADULT; ARTICLE; BLEEDING; BLOOD CLOTTING; BLOOD CLOTTING FACTOR 13 DEFICIENCY; CASE REPORT; CELL LINE; CELL LYSATE; EUGLOBULIN LYSIS TEST; EXON; FIBRINOLYSIS; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC TRANSFECTION; HEMATOMA; HUMAN; MALE; MISSENSE MUTATION; OVARY CELL; PLASMID; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; WILD TYPE;

ADULT; AMINO ACID SUBSTITUTION; HEMORRHAGE; HUMANS; MALE; MUTATION, MISSENSE; PLASMINOGEN ACTIVATOR INHIBITOR 1; PROTEIN SORTING SIGNALS;

EID: 12544254214     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/00001721-200501000-00013     Document Type: Article

References (13)

1. Huber K. Plasminogen activator inhibitor type-1 (part one): basic mechanisms, regulation, and role for thromboembolic disease. J Thromb Thrombolysis 2001; 11:183-193.
2. Carmeliet P, Stassen JM, Schoonjans L, Ream B, van den Oord JJ, De Mol M, et al. Plasminogen activator inhibitor-1 gene-deficient mice. II. Effects on hemostasis, thrombosis, and thrombolysis. J Clin Invest 1993; 92:2756-2760.
3. Schleef RR, Higgins DL, Pillemer E, Levitt U. Bleeding diathesis due to decreased functional activity of type 1 plasminogen activator inhibitor. J Clin Invest 1989; 83:1747-1752.
4. Lee MH, Vosburgh E, Anderson K, McDonagh J. Deficiency of plasminogen activator inhibitor 1 results in hyperfibrinolytic bleeding. Blood 1993; 81:2357-2362.
5. Diéval J, Nguyen G, Gross S, Delobel J, Kruithof EKO. A lifelong bleeding disorder associated with a deficiency of plasminogen activator inhibitor type 1. Blood 1991; 77:528-532.
6. Takahashi Y, Tanaka T, Minowa H, Ookubo Y, Sugimoto M, Nakajima M, et al. Hereditary partial deficiency of plasminogen activator inhibitor-1 associated with a lifelong bleeding tendency. Int J Hematol 1996; 64:61-68.
7. Minowa H, Takahashi Y, Tanaka T, Naganuma K, Ida S, Maki I, et al. Four cases of bleeding diathesis in children due to congenital plasminogen activator inhibitor-1 deficiency. Haemostasis 1999; 29:286-291.
8. Fay WP, Parker AC, Condrey LR, Shapiro AD. Human plasminogen activator inhibitor-1 (PAM) deficiency: characterization of a large kindred with a null mutation in the PAM gene. Blood 1997; 90:204-208.
9. Favier R, Aoki N, de Moerloose P. Congenital alpha(2)-plasmin inhibitor deficiencies: a review. Br J Haematol 2001; 114:4-10.
10. Anwar R, Miloszewski KJ. Factor XIII deficiency. Br J Haematol 1999; 107:468-484.
11. Fay WP, Shapiro AD, Shih JL, Schleef RR, Ginsburg D. Complete deficiency of plasminogen-activator inhibitor type 1 duo to a frame-shift mutation. N Engl J Med 1992; 327:1729-1733.
12. Martoglio B, Dobberstein B. Signal sequences: more than just greasy peptides. Trend Cell Biol 1998; 8:410-415.
13. Lanza F, de la Salle C, Baas M-J, Schwartz A, Boval B, Cazenzve J-P, et al. A Leu7Pro mutation in the signal peptide of platelet glycoprotein (GP) IX in a case of Bernard-Soulier syndrome abolishes surface expression of the GPIb-V-IX complex. Br J Haematol 2002; 118:260-266.