메뉴 건너뛰기




Volumn 85, Issue 5, 2010, Pages 363-366

A large family from Argentina with Prekallikrein deficiency due to a compound heterozygosis (T insertion in intron 7 and Asp558Glu in exon 15): Prekallikrein Cordoba

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 11; BLOOD CLOTTING FACTOR 12; COUMARIN; ENOXAPARIN; HIGH MOLECULAR WEIGHT KININOGEN; LOW MOLECULAR WEIGHT HEPARIN; PREKALLIKREIN; WARFARIN;

EID: 77951553409     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.21654     Document Type: Article
Times cited : (13)

References (30)
  • 1
    • 0023043187 scopus 로고
    • Human plasma prekallikrein, a zymogen to a serine protease that contains four tandem repeats
    • Chung DW, Fujikawa K, McMullen BA, Davie EW. Human plasma prekallikrein, a zymogen to a serine protease that contains four tandem repeats. Biochemistry 1986;25:2410-2417.
    • (1986) Biochemistry , vol.25 , pp. 2410-2417
    • Chung, D.W.1    Fujikawa, K.2    McMullen, B.A.3    Davie, E.W.4
  • 2
    • 35848964833 scopus 로고    scopus 로고
    • Contact Activation (Kallikrein-Kinin) pathway: Involving inflammatory, fibrinolytic, anticoagulant physiologic and pathophisiologic activities
    • Colman RW, Marder VJ, Clowes AW, George JN, Goldhaber SZ, editors. 5th ed. Philadelphia: Lippincot & Williams
    • Colman RW. Contact Activation (Kallikrein-Kinin) pathway: Involving inflammatory, fibrinolytic, anticoagulant physiologic and pathophisiologic activities. In: Colman RW, Marder VJ, Clowes AW, George JN, Goldhaber SZ, editors. Hemostasis and Thrombosis, 5th ed. Philadelphia: Lippincot & Williams; 2006. pp 107-130.
    • (2006) Hemostasis and Thrombosis , pp. 107-130
    • Colman, R.W.1
  • 3
    • 0013811792 scopus 로고
    • Evidence for a new plasma thromboplastin factor I. Case report, coagulation studies and physicochemical properties
    • Hathaway WE, Belhasen LP, Hathaway HS. Evidence for a new plasma thromboplastin factor I. Case report, coagulation studies and physicochemical properties. Blood. 1965;26:521-532.
    • (1965) Blood , vol.26 , pp. 521-532
    • Hathaway, W.E.1    Belhasen, L.P.2    Hathaway, H.S.3
  • 4
    • 0020565895 scopus 로고
    • Thrombosis or myocardial infarction in congenital clotting factor abnormalities and chronic thrombocytopenias: A report of 21 patients and a review of 50 previously reported cases
    • Baltimore
    • Goodnough LT, Saito H, Ratnoff DD. Thrombosis or myocardial infarction in congenital clotting factor abnormalities and chronic thrombocytopenias: A report of 21 patients and a review of 50 previously reported cases. Medicine (Baltimore) 1983;62:248-255
    • (1983) Medicine , vol.62 , pp. 248-255
    • Goodnough, L.T.1    Saito, H.2    Ratnoff, D.D.3
  • 5
    • 0019484132 scopus 로고
    • Fletcher factor deficiency, source of variations of the actived partial thromboplastin time test
    • Entes K, La Duca FM, Tourbaf KD. Fletcher factor deficiency, source of variations of the actived partial thromboplastin time test. Am J Clin Pathol 1981;75:626-628.
    • (1981) Am J Clin Pathol , vol.75 , pp. 626-628
    • Entes, K.1    La Duca, F.M.2    Tourbaf, K.D.3
  • 6
    • 0028965690 scopus 로고
    • Fletcher factor deficiency in a 9-year-old girl: Mechanisms of the contact pathway of blood coagulation
    • DeLa Cadena RA. Fletcher factor deficiency in a 9-year-old girl: Mechanisms of the contact pathway of blood coagulation. Am J Hematol 1995;48:273-277.
    • (1995) Am J Hematol , vol.48 , pp. 273-277
    • Dela Cadena, R.A.1
  • 7
    • 0013650503 scopus 로고
    • Factor XII, Prekallikrein and high molecolar weight kininogen
    • High KA, Roberts HR, editors. New York: M. Dekker Inc.
    • Saito H, Kojima T. Factor XII, Prekallikrein and high molecolar weight kininogen. In: High KA, Roberts HR, editors. Molecular Basis of Thrombosis and Haemostasis. New York: M. Dekker Inc.; 1995. pp 269-285.
    • (1995) Molecular Basis of Thrombosis and Haemostasis , pp. 269-285
    • Saito, H.1    Kojima, T.2
  • 8
    • 0027178870 scopus 로고
    • Functional characterization of a variant prekallikrein (PK Zurich)
    • Wuillemin WA, Furlan M, von Felten A, Lammie B. Functional characterization of a variant prekallikrein (PK Zurich). Thromb Haemost 1993;70:427-432.
    • (1993) Thromb Haemost , vol.70 , pp. 427-432
    • Wuillemin, W.A.1    Furlan, M.2    Von Felten, A.3    Lammie, B.4
  • 9
    • 0022486740 scopus 로고
    • Characterization of a variant prekallikrein, prekallikrein Long Beach, from a family with mixed cross-reacting material-positive and cross-reacting material-negative prekallikrein deficiency
    • Bouma BN, Kerbiriou DM, Baker J, Griffin JH. Characterization of a variant prekallikrein, prekallikrein Long Beach, from a family with mixed cross-reacting material-positive and cross-reacting material-negative prekallikrein deficiency. J Clin Invest 1986;78:170-176.
    • (1986) J Clin Invest , vol.78 , pp. 170-176
    • Bouma, B.N.1    Kerbiriou, D.M.2    Baker, J.3    Griffin, J.H.4
  • 10
    • 0025641685 scopus 로고
    • Association of Graves' disease and prekallikrein congenital deficiency in a patient belonging to the first CRM+ prekallikrein-deficient Italian family
    • De Stefano V, Leone G, Teofili L, et al. Association of Graves' disease and prekallikrein congenital deficiency in a patient belonging to the first CRM+ prekallikrein-deficient Italian family. Thromb Res 1990;60:397-1340
    • (1990) Thromb Res , vol.60 , pp. 397-1340
    • De Stefano, V.1    Leone, G.2    Teofili, L.3
  • 11
    • 0021125764 scopus 로고
    • CRM1 severe Fletcher factor deficiency associated with Graves' disease
    • Kyrle PA, Niessner H, Deutsch E, et al. CRM1 severe Fletcher factor deficiency associated with Graves' disease. Haemostasis 1984;14:302-306.
    • (1984) Haemostasis , vol.14 , pp. 302-306
    • Kyrle, P.A.1    Niessner, H.2    Deutsch, E.3
  • 12
    • 0347478087 scopus 로고    scopus 로고
    • Severe prekallikrein (Fletcher factor) deficiency due to a compound heterozygosis (383 Trp stop codon and Cys529Tyr)
    • Lombardi AM, Sartori MT, Cabrio L, et al. Severe prekallikrein (Fletcher factor) deficiency due to a compound heterozygosis (383 Trp stop codon and Cys529Tyr). Thromb Haemost 2003;90:1040-1045.
    • (2003) Thromb Haemost , vol.90 , pp. 1040-1045
    • Lombardi, A.M.1    Sartori, M.T.2    Cabrio, L.3
  • 13
    • 2142656304 scopus 로고    scopus 로고
    • Prekallikrein (PK) Tokushima: PK deficiency caused by a Gly401-->Glu mutation
    • Shigekiyo T, Fujino O, Kanagawa Y, Matsumoto T. Prekallikrein (PK) Tokushima: PK deficiency caused by a Gly401-->Glu mutation. J Thromb Haemost 2003;1:1314-1316.
    • (2003) J Thromb Haemost , vol.1 , pp. 1314-1316
    • Shigekiyo, T.1    Fujino, O.2    Kanagawa, Y.3    Matsumoto, T.4
  • 14
    • 5644271562 scopus 로고    scopus 로고
    • Severe prekallikrein deficiency associated with homozygosity for an Arg 94 Stop nonsense mutation
    • Jones DW, Russel G, Allford SL, et al. Severe prekallikrein deficiency associated with homozygosity for an Arg 94 Stop nonsense mutation. Brit J Haematol 2004;127:220-223.
    • (2004) Brit J Haematol , vol.127 , pp. 220-223
    • Jones, D.W.1    Russel, G.2    Allford, S.L.3
  • 15
    • 34347262499 scopus 로고    scopus 로고
    • A new type of plasma prekallikrein deficiency associated with homozygosity for Gly104Arg and Asn124Ser in apple domain 2 of the heavy-chain region
    • Katsuda I, Maruyama F, Ezaki K, et al. A new type of plasma prekallikrein deficiency associated with homozygosity for Gly104Arg and Asn124Ser in apple domain 2 of the heavy-chain region. Eur J Haematol 2007;79:59-68.
    • (2007) Eur J Haematol , vol.79 , pp. 59-68
    • Katsuda, I.1    Maruyama, F.2    Ezaki, K.3
  • 16
    • 34247154917 scopus 로고    scopus 로고
    • Severe prekallikrein deficiencies due to homozygous C529Y mutations
    • François D, Trigui N, Leterreux G, et al. Severe prekallikrein deficiencies due to homozygous C529Y mutations. Blood Coagul Fibrinolysis 2007;18:283-286.
    • (2007) Blood Coagul Fibrinolysis , vol.18 , pp. 283-286
    • François, D.1    Trigui, N.2    Leterreux, G.3
  • 17
    • 77951542557 scopus 로고    scopus 로고
    • An elderly case of congenital Prekallikrein deficiency
    • Nagaya S, Morishita E, Maruyama K, et al. An elderly case of congenital Prekallikrein deficiency. Nippon Ron Igak Zasshi 2009;46:148-151.
    • (2009) Nippon Ron Igak Zasshi , vol.46 , pp. 148-151
    • Nagaya, S.1    Morishita, E.2    Maruyama, K.3
  • 19
    • 0342710883 scopus 로고
    • Lack of factor XII antigen in factor XII deficiency as de terminate by electroimmuno assay
    • Girolami A, Patrassi GM, De Marco L, Cappellato G. Lack of factor XII antigen in factor XII deficiency as de terminate by electroimmuno assay. Blut 1982;45:141-142.
    • (1982) Blut , vol.45 , pp. 141-142
    • Girolami, A.1    Patrassi, G.M.2    De Marco, L.3    Cappellato, G.4
  • 20
    • 0015420983 scopus 로고
    • Crossover electrophoresis (electrosyneresis) visualization of the abnormal factor X (factor X Friuli)
    • Girolami A, Sticchi A, Bareggi G. Crossover electrophoresis (electrosyneresis) visualization of the abnormal factor X (factor X Friuli). J Lab Clin Med 1972;80:740-747.
    • (1972) J Lab Clin Med , vol.80 , pp. 740-747
    • Girolami, A.1    Sticchi, A.2    Bareggi, G.3
  • 21
    • 0034667318 scopus 로고    scopus 로고
    • Genomic structure of the human plasma prekallikrein gene, identification of allelic variants, and analysis in end-stage renal disease
    • Yu H, Anderson PJ, Freedman BI, et al. Genomic structure of the human plasma prekallikrein gene, identification of allelic variants, and analysis in end-stage renal disease. Genomics 2000;69:225-234.
    • (2000) Genomics , vol.69 , pp. 225-234
    • Yu, H.1    Anderson, P.J.2    Freedman, B.I.3
  • 22
    • 0026082814 scopus 로고
    • Location of the disulfide bonds in human plasma prekallikrein: The presence of four novel apple domains in the amino-terminal point of the molecule
    • McMullen BA, Fujikawa K, Davie EW. Location of the disulfide bonds in human plasma prekallikrein: The presence of four novel apple domains in the amino-terminal point of the molecule. Biochemistry 1991;30:2050-2056.
    • (1991) Biochemistry , vol.30 , pp. 2050-2056
    • McMullen, B.A.1    Fujikawa, K.2    Davie, E.W.3
  • 23
    • 0037085693 scopus 로고    scopus 로고
    • Prekallikrein deficiency: The characteristic normalizazion of the severely prolunged aPTT following incrased preincubation time is due to autoactivation of factor XII
    • Asmis LM, Sulrer I, Furlan M, Lammle B. Prekallikrein deficiency: The characteristic normalizazion of the severely prolunged aPTT following incrased preincubation time is due to autoactivation of factor XII. Thromb Res 2002;105:463-470.
    • (2002) Thromb Res , vol.105 , pp. 463-470
    • Asmis, L.M.1    Sulrer, I.2    Furlan, M.3    Lammle, B.4
  • 24
    • 0019455106 scopus 로고
    • Heterogeneity of humanprekallikrein deficiency (Fletcher Factor): Evidence that five of 18 cases are positive for cross-reactive material
    • Saito H, Goodenough LT, Soria J, et al. Heterogeneity of humanprekallikrein deficiency (Fletcher Factor): Evidence that five of 18 cases are positive for cross-reactive material. New Eng J Med 1981;305:910-914.
    • (1981) New Eng J Med , vol.305 , pp. 910-914
    • Saito, H.1    Goodenough, L.T.2    Soria, J.3
  • 26
    • 0021807758 scopus 로고
    • Multiple cerebral thrombosis in Fletcher factor (prekallikrein) deficiency: A case report
    • Harris MG, Exner T, Rickard KA, Kronenberg H. Multiple cerebral thrombosis in Fletcher factor (prekallikrein) deficiency: A case report. Am J Hematol 1985;19:387-393.
    • (1985) Am J Hematol , vol.19 , pp. 387-393
    • Harris, M.G.1    Exner, T.2    Rickard, K.A.3    Kronenberg, H.4
  • 27
    • 31144465926 scopus 로고    scopus 로고
    • Hearing silence: Non-neutral evolution at synonymous sites in mammals
    • Chamary JV, Parmley JL, Hurst LD. Hearing silence: Non-neutral evolution at synonymous sites in mammals. Nat Rev Genet 2006;7:98-108.
    • (2006) Nat Rev Genet , vol.7 , pp. 98-108
    • Chamary, J.V.1    Parmley, J.L.2    Hurst, L.D.3
  • 28
    • 65349175762 scopus 로고    scopus 로고
    • Genetic analysis of complement factor H related 5, CFHR5, in patients with age-related macular degeneration
    • Narendra U, Gayle JT, Pauer GJT, Hagstrom SA. Genetic analysis of complement factor H related 5, CFHR5, in patients with age-related macular degeneration. Mol Vis 2009;15:731-736.
    • (2009) Mol Vis , vol.15 , pp. 731-736
    • Narendra, U.1    Gayle, J.T.2    Pauer, G.J.T.3    Hagstrom, S.A.4
  • 29
    • 23644433509 scopus 로고    scopus 로고
    • A synonymous coding polymorphism in the alpha2-Heremans-schmid glycoprotein gene is associated with type 2 diabetes in French Caucasians
    • Siddiq A, Lepretre F, Hercberg S, et al. A synonymous coding polymorphism in the alpha2-Heremans-schmid glycoprotein gene is associated with type 2 diabetes in French Caucasians. Diabetes 2005;54:2477-2481.
    • (2005) Diabetes , vol.54 , pp. 2477-2481
    • Siddiq, A.1    Lepretre, F.2    Hercberg, S.3
  • 30
    • 33847241832 scopus 로고    scopus 로고
    • Seemingly neutral polymorphic variants may confer immunità to splicing-inactivating mutations: A synonymous SNP in Exon 5 of MCAD protects from Deleterious Mutations in a flanking exonic Splicing Enhancer
    • Nielsen KB, Sorensen S, Cartegni L, et al. Seemingly neutral polymorphic variants may confer immunità to splicing-inactivating mutations: A synonymous SNP in Exon 5 of MCAD protects from Deleterious Mutations in a flanking exonic Splicing Enhancer. Am J Hum Gen 2007;80:416-432.
    • (2007) Am J Hum Gen , vol.80 , pp. 416-432
    • Nielsen, K.B.1    Sorensen, S.2    Cartegni, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.