Met 358 to Arg mutation of alpha 1-antitrypsin associated with protein C deficiency in a patient with mild bleeding tendency.

PubWeight™: 1.00‹?› | Rank: Top 15%

🔗 View Article (PMC 443026)

Published in J Clin Invest on May 01, 1992

Authors

D Vidaud1, J Emmerich, M Alhenc-Gelas, J Yvart, J N Fiessinger, M Aiach

Author Affiliations

1: Laboratoire d'Hémostase, Hôpital Broussais, Paris, France.

Articles cited by this

DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A (1977) 790.54

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science (1988) 220.77

Mammalian subtilisins: the long-sought dibasic processing endoproteases. Cell (1991) 4.91

Identification of an endothelial cell cofactor for thrombin-catalyzed activation of protein C. Proc Natl Acad Sci U S A (1981) 3.88

Complete sequence of the cDNA for human alpha 1-antitrypsin and the gene for the S variant. Biochemistry (1984) 3.75

Deficiency of protein C in congenital thrombotic disease. J Clin Invest (1981) 3.56

Isolation of a membrane-bound cofactor for thrombin-catalyzed activation of protein C. J Biol Chem (1982) 3.51

The roles of protein C and thrombomodulin in the regulation of blood coagulation. J Biol Chem (1989) 3.14

Mutation of antitrypsin to antithrombin. alpha 1-antitrypsin Pittsburgh (358 Met leads to Arg), a fatal bleeding disorder. N Engl J Med (1983) 2.36

Alpha 1-antitrypsin deficiency, emphysema, and liver disease. Genetic basis and strategies for therapy. J Clin Invest (1990) 2.35

Functional expression of furin demonstrating its intracellular localization and endoprotease activity for processing of proalbumin and complement pro-C3. J Biol Chem (1991) 1.76

Detection of alpha 1-antitrypsin genotypes by analysis of amplified DNA sequences. Nucleic Acids Res (1988) 1.45

Characterization and novel purification of recombinant human protein C from three mammalian cell lines. Biotechnology (N Y) (1990) 1.30

Antithrombin Pittsburgh: an alpha1-antitrypsin variant causing hemorrhagic disease. Blood (1978) 1.26

Protein C inhibitor. Purification from human plasma and characterization. J Biol Chem (1983) 1.21

The use of a functional and immunologic assay for plasma protein C in the study of the heterogeneity of congenital protein C deficiency. Thromb Haemost (1984) 1.17

Calcium-dependent KEX2-like protease found in hepatic secretory vesicles converts proalbumin to albumin. FEBS Lett (1988) 1.11

Physiologic inhibition of human activated protein C by alpha 1-antitrypsin. J Biol Chem (1988) 1.11

Inhibition of activated protein C by recombinant alpha 1-antitrypsin variants with substitution of arginine or leucine for methionine358. J Biol Chem (1990) 1.08

Alpha-1-antitrypsin-Pittsburgh. A potent inhibitor of human plasma factor XIa, kallikrein, and factor XIIf. J Clin Invest (1986) 1.05

Endoproteolytic processing of the dibasic cleavage site in the human protein C precursor in transfected mammalian cells: effects of sequence alterations on efficiency of cleavage. Biochemistry (1990) 1.02

Endoproteolytic processing of the human protein C precursor by the yeast Kex2 endopeptidase coexpressed in mammalian cells. Biochemistry (1991) 0.98

Intracellular processing of complement pro-C3 and proalbumin is inhibited by rat alpha 1-protease inhibitor variant (Met352----Arg) in transfected cells. Biochem Biophys Res Commun (1990) 0.93

The molecular pathology of the serpins. Mol Biol Med (1989) 0.92

Kinetic studies on the interaction of alpha 1-proteinase inhibitor (Pittsburgh) with trypsin-like serine proteinases. Biol Chem Hoppe Seyler (1986) 0.89

Circulating proalbumin associated with a variant proteinase inhibitor. Biochim Biophys Acta (1984) 0.85

Molecular forms of human protein C: comparison and distribution in human adult plasma. Thromb Haemost (1989) 0.79

Clinical and biochemical characterization of antithrombin III Franconville, a variant with Pro 41 Leu mutation. Br J Haematol (1990) 0.78

Articles by these authors

Detection of hepatitis B virus DNA in serum by a simple spot hybridization technique: comparison with results for other viral markers. Hepatology (1983) 3.11

Indicators of lifetime endogenous estrogen exposure and risk of venous thromboembolism. J Thromb Haemost (2006) 2.17

Otitis media. Clinical observations, microbiology, and evaluation of therapy. Am J Dis Child (1968) 1.81

Venous thromboembolism and mortality after hip fracture surgery: the ESCORTE study. J Thromb Haemost (2005) 1.80

Diagnostic score for heparin-induced thrombocytopenia after cardiopulmonary bypass. J Thromb Haemost (2004) 1.79

Geographic distribution of the 20210 G to A prothrombin variant. Thromb Haemost (1998) 1.71

Interrelationships of viral, mycoplasmal, and bacterial agents in uncomplicated pneumonia. Am Rev Respir Dis (1968) 1.58

Percutaneous transluminal angioplasty for emboligenic arterial lesions after radiotherapy of axillary arteries. J Vasc Surg (1995) 1.49

Thrombomodulin prolongs thrombin-induced extracellular signal-regulated kinase phosphorylation and nuclear retention in endothelial cells. Circ Res (2001) 1.49

Seroimmunologic classification of chronic hepatitis in 57 children. Hepatology (1983) 1.48

Antiphospholipid antibodies and atherosclerosis. Am J Med (1992) 1.41

Thromboangiitis obliterans (Buerger's disease). Rev Rhum Engl Ed (1997) 1.41

Rheumatic manifestations in patients with thromboangiitis obliterans (Buerger's disease). J Rheumatol (1999) 1.40

[Rapid selection that rectifies a diagnosis of arteritis!]. Presse Med (2000) 1.39

Unexplained thrombosis and factor V Leiden mutation. Lancet (1994) 1.28

Effects of oral and transdermal estrogen/progesterone regimens on blood coagulation and fibrinolysis in postmenopausal women. A randomized controlled trial. Arterioscler Thromb Vasc Biol (1997) 1.21

Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost (1997) 1.15

Femoropopliteal stent placement: long-term results. Radiology (1992) 1.11

Atheroembolism in HIV-positive individuals. Lancet (1992) 1.09

Factors V leiden and II 20210A in patients with symptomatic pulmonary embolism and deep vein thrombosis. Am J Med (2001) 1.07

Neonatal thrombocytopenia and hidden maternal autoimmunity. Br J Haematol (1993) 1.05

Protein C and protein S deficiencies. Semin Hematol (1997) 1.04

Hypercoagulable states in primary upper-extremity deep vein thrombosis. Arch Intern Med (2000) 1.01

The factor II G20210A gene polymorphism, but not factor V Arg506Gln, is associated with peripheral arterial disease: results of a case-control study. J Thromb Haemost (2004) 1.00

Complex association of protein C gene promoter polymorphism with circulating protein C levels and thrombotic risk. Arterioscler Thromb Vasc Biol (1999) 1.00

Initial assessment of the beneficial effect of partial splenectomy in hereditary spherocytosis. Blood (1993) 0.99

Comparison of a once daily with a twice daily subcutaneous low molecular weight heparin regimen in the treatment of deep vein thrombosis. FRAXODI group. Thromb Haemost (1998) 0.98

Identification of mutations in 90 of 121 consecutive symptomatic French patients with a type I protein C deficiency. The French INSERM Network on Molecular Abnormalities Responsible for Protein C and Protein S deficiencies. Blood (1995) 0.96

Adjusted versus fixed doses of the low-molecular-weight heparin fragmin in the treatment of deep vein thrombosis. Fragmin-Study Group. Thromb Haemost (1994) 0.95

Polymorphisms in the 5' regulatory region of the tissue factor gene and the risk of myocardial infarction and venous thromboembolism: the ECTIM and PATHROS studies. Etude Cas-Témoins de l'Infarctus du Myocarde. Paris Thrombosis case-control Study. Arterioscler Thromb Vasc Biol (2000) 0.95

Magnetic control of vascular network formation with magnetically labeled endothelial progenitor cells. Biomaterials (2007) 0.93

[Spontaneous pneumoperitoneum in scleroderma]. Gastroenterol Clin Biol (1984) 0.93

Oral Beraprost sodium, a prostaglandin I(2) analogue, for intermittent claudication: a double-blind, randomized, multicenter controlled trial. Beraprost et Claudication Intermittente (BERCI) Research Group. Circulation (2000) 0.92

Antithrombin III mutation database: first update. For the Thrombin and its Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost (1993) 0.92

Activation-induced exposure of the thrombin anion-binding exosite. Interactions of recombinant mutant prothrombins with thrombomodulin and a thrombin exosite-specific antibody. J Biol Chem (1994) 0.92

Protein S deficiency: a database of mutations--summary of the first update. Thromb Haemost (2000) 0.92

Pregnancy-associated thrombocytopenia revisited: assessment and follow-up of 50 cases. Blood (1998) 0.92

Demonstration of an association between Chlamydia pneumoniae infection and venous thromboembolic disease. Thromb Haemost (2000) 0.92

Follow-up electron beam CT for the management of early phase Takayasu arteritis. J Comput Assist Tomogr (2001) 0.92

[Erasmus syndrome in a dental technician. Importance of the prevention of occupational hazards]. Ann Med Interne (Paris) (1983) 0.91

Protein S deficiency. Thromb Haemost (1997) 0.91

A multi-stage multi-design strategy provides strong evidence that the BAI3 locus is associated with early-onset venous thromboembolism. J Thromb Haemost (2010) 0.91

[Influence of intrinsic factor deficiency on malabsorption of vitamin B12 bound to proteins in achlorhydria]. Gastroenterol Clin Biol (1982) 0.91

The angiopoietin pathway is modulated by PAR-1 activation on human endothelial progenitor cells. J Thromb Haemost (2006) 0.91

Inhibition of leukotriene B4-induced CD11B/CD18 (Mac-1) expression by BIIL 284, a new long acting LTB4 receptor antagonist, in patients with rheumatoid arthritis. Ann Rheum Dis (2004) 0.91

Endothelial progenitor cells: characterization, in vitro expansion, and prospects for autologous cell therapy. Cell Biol Toxicol (2007) 0.91

Incidence of activated protein C resistance caused by the ARG 506 GLN mutation in factor V in 113 unrelated symptomatic protein C-deficient patients. The French Network on the behalf of INSERM. Blood (1995) 0.90

Hepatitis B virus DNA in children's liver diseases: detection by blot hybridisation in liver and serum. Gut (1983) 0.90

Maize- or potato-derived hydroxyethyl starches: is there any thromboelastometric difference? Acta Anaesthesiol Scand (2010) 0.90

[Acquired dysfibrinogenemia and hepatic disorders. Apropos of 30 cases]. Sem Hop (1973) 0.90

[Idiopathic and secondary Raynaud's phenomenon. A comparative psychosomatic approach]. Presse Med (1990) 0.89

Angiogenic potential of BM MSCs derived from patients with critical leg ischemia. Bone Marrow Transplant (2011) 0.89

Systemic sclerosis and cryoglobulinemia. Clin Immunol Immunopathol (1976) 0.89

Platelet microparticle levels: a biomarker of thromboangiitis obliterans (Buerger's disease) exacerbation. J Cell Mol Med (2009) 0.89

[Relationship between digital necrosis of the upper limbs and malignant conditions (author's transl)]. Nouv Presse Med (1978) 0.89

[Endovascular repair of a tuberculous aortic false aneurysm]. Rev Med Interne (2006) 0.89

Misdiagnosis of chronic thrombocytopenia in childhood. J Pediatr Hematol Oncol (2003) 0.89

[ Gene frequencies in 17 polymorphism systems. Study on a sample of subjects living in the Paris region]. Rev Fr Transfus (1974) 0.88

Percutaneous iliac artery stent: angiographic long-term follow-up. Radiology (1991) 0.88

Role of the P2Y12 gene polymorphism in platelet responsiveness to clopidogrel in healthy subjects. J Thromb Haemost (2006) 0.87

Venous thromboembolic disease and the prothrombin, methylene tetrahydrofolate reductase and factor V genes. Thromb Haemost (1999) 0.87

Different impacts of alleles alphaLEPRA and alphaLELY as assessed versus a novel, virtually null allele of the SPTA1 gene in trans. Br J Haematol (2004) 0.87

Fine structural capillary changes and basal lamina thickening in scleroderma (progressive systemic sclerosis) and Raynaud's disease. Pathol Res Pract (1984) 0.87

[Raynaud's phenomenone: prospective study of 100 cases (author's transl)]. Nouv Presse Med (1979) 0.87

Mechanism of protein C deficiency in a patient with arginine 358 alpha 1-antitrypsin (Pittsburgh mutation): role in the maintenance of hemostatic balance. J Lab Clin Med (1995) 0.86

Changes in acid-base status of marathon runners during an incremental field test. Relationship to mean competitive marathon velocity. Eur J Appl Physiol Occup Physiol (1993) 0.86

Molecular basis for protein S hereditary deficiency: genetic defects observed in 118 patients with type I and type IIa deficiencies. The French Network on Molecular Abnormalities Responsible for Protein C and Protein S Deficiencies. J Lab Clin Med (1996) 0.86