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Volumn 95, Issue 1, 2006, Pages 195-198

Prothrombin deficiency caused by compound heterozygosity for two novel mutations in the prothrombin gene associated with a bleeding tendency

Author keywords

[No Author keywords available]

Indexed keywords

FRESH FROZEN PLASMA; PROTHROM-PLEX; PROTHROMBIN;

EID: 33645541660     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1612584     Document Type: Article
Times cited : (20)

References (26)
  • 1
    • 4444269047 scopus 로고    scopus 로고
    • Recessively inherited coagulation disorders
    • Mannucci PM, Duga S, Peyvandi F. Recessively inherited coagulation disorders. Blood 2004; 104: 1243-52.
    • (2004) Blood , vol.104 , pp. 1243-1252
    • Mannucci, P.M.1    Duga, S.2    Peyvandi, F.3
  • 2
    • 33645544743 scopus 로고    scopus 로고
    • Mutations of patients with prothrombin deficiency
    • International Society on Thrombosis and Haemostasis
    • International Society on Thrombosis and Haemostasis. Mutations of patients with prothrombin deficiency. http://www.med.unc.edu/isth/mutations-databases/prothrombin.htm. 2004.
    • (2004)
  • 3
    • 15444376846 scopus 로고    scopus 로고
    • Effect of intravenous N-acetylcysteine infusion on haemostatic parameters in healthy subjects
    • Knudsen TT, Thorsen S, Jensen SA et al. Effect of intravenous N-acetylcysteine infusion on haemostatic parameters in healthy subjects. Gut 2005; 54: 515-21.
    • (2005) Gut , vol.54 , pp. 515-521
    • Knudsen, T.T.1    Thorsen, S.2    Jensen, S.A.3
  • 5
    • 17044420448 scopus 로고    scopus 로고
    • Massive antenatal fetomaternal hemorrhage: Evidence for long-term survival of fetal red blood cells
    • Dziegiel MH, Koldkjær O, Berkowicz A. Massive antenatal fetomaternal hemorrhage: evidence for long-term survival of fetal red blood cells. Transfusion 2005; 45: 539-14.
    • (2005) Transfusion , vol.45 , pp. 539-544
    • Dziegiel, M.H.1    Koldkjær, O.2    Berkowicz, A.3
  • 6
    • 23144434765 scopus 로고    scopus 로고
    • Retinal haemorrhages in premature infants: A pathogenetic alternative diagnosis to child abuse
    • Fledelius HC Retinal haemorrhages in premature infants: a pathogenetic alternative diagnosis to child abuse. Acta Ophthalmol Scand 2005; 83: 424-7.
    • (2005) Acta Ophthalmol Scand , vol.83 , pp. 424-427
    • Fledelius, H.C.1
  • 7
    • 0742323558 scopus 로고    scopus 로고
    • Nonsense-mediated mRNA decay: Splicing, translation and mRNP dynamics
    • Maquat LE Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat Rev Mol Cell Biol 2004; 5: 89-99.
    • (2004) Nat Rev Mol Cell Biol , vol.5 , pp. 89-99
    • Maquat, L.E.1
  • 8
    • 0037566901 scopus 로고    scopus 로고
    • For whom the bell tolls: Protein quality control of the endoplasmic reticulum and the ubiquitin-proteasome connection
    • S. Kostova Z, Wolf DH. For whom the bell tolls: protein quality control of the endoplasmic reticulum and the ubiquitin-proteasome connection. EMBO J 2003; 22: 2309-17.
    • (2003) EMBO J , vol.22 , pp. 2309-2317
    • Kostova, Z.1    Wolf, D.H.2
  • 9
    • 3543012545 scopus 로고    scopus 로고
    • Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay
    • Inacio A, Silva AL, Pinto J et al. Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay. J Biol Chem 2004; 279: 32170-80.
    • (2004) J Biol Chem , vol.279 , pp. 32170-32180
    • Inacio, A.1    Silva, A.L.2    Pinto, J.3
  • 10
    • 0026606829 scopus 로고
    • Partial characterization of vertebrate prothrombin cDNAs: Amplification and sequence analysis of the B chain of thrombin from nine different species
    • Banfield DK, MacGillivray RT. Partial characterization of vertebrate prothrombin cDNAs: amplification and sequence analysis of the B chain of thrombin from nine different species. Proc Natl Acad Sci USA 1992; 89: 2779-83.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 2779-2783
    • Banfield, D.K.1    MacGillivray, R.T.2
  • 11
    • 3843133006 scopus 로고    scopus 로고
    • Molecular dissection of Na+ binding to thrombin
    • Pineda AO, Carrell CJ, Bush LA et al. Molecular dissection of Na+ binding to thrombin. J Biol Chem 2004; 279: 31842-53.
    • (2004) J Biol Chem , vol.279 , pp. 31842-31853
    • Pineda, A.O.1    Carrell, C.J.2    Bush, L.A.3
  • 12
    • 0027050807 scopus 로고
    • The refined 1.9-A X-ray crystal structure of D-Phe-Pro-Arg chloro-methylketone-inhibited human alpha-thrombin: Structure analysis, overall structure, electrostatic properties, detailed active-site geometry, and structure-function relationships
    • Bode W, Turk D, Karshikov A. The refined 1.9-A X-ray crystal structure of D-Phe-Pro-Arg chloro-methylketone-inhibited human alpha-thrombin: structure analysis, overall structure, electrostatic properties, detailed active-site geometry, and structure-function relationships. Protein Sci 1992; 1: 426-71.
    • (1992) Protein Sci , vol.1 , pp. 426-471
    • Bode, W.1    Turk, D.2    Karshikov, A.3
  • 13
    • 0028586082 scopus 로고
    • The isomorphous structures of prethrombin2, hirugen-, and PPACK-thrombin: Changes accompanying activation and exosite binding to thrombin
    • Vijayalakshmi J, Padmanabhan KP, Mann KG et al. The isomorphous structures of prethrombin2, hirugen-, and PPACK-thrombin: changes accompanying activation and exosite binding to thrombin. Protein Sci 1994; 3: 2254-71.
    • (1994) Protein Sci , vol.3 , pp. 2254-2271
    • Vijayalakshmi, J.1    Padmanabhan, K.P.2    Mann, K.G.3
  • 14
    • 0028984375 scopus 로고
    • Prothrombin Frankfurt: A dysfunctional prothrombin characterized by substitution of Glu-466 by Ala
    • Degen SJ, McDowell SA, Sparks LM et al. Prothrombin Frankfurt: a dysfunctional prothrombin characterized by substitution of Glu-466 by Ala. Thromb Haemost 1995; 73: 203-9.
    • (1995) Thromb Haemost , vol.73 , pp. 203-209
    • Degen, S.J.1    McDowell, S.A.2    Sparks, L.M.3
  • 15
    • 0035067691 scopus 로고    scopus 로고
    • Prothrombin Scranton: Substitution of an amino acid residue involved in the binding of Na+ (LYS-556 to THR) leads to dysprothrombinemia
    • Sun WY, Smirnow D, Jenkins ML et al. Prothrombin Scranton: substitution of an amino acid residue involved in the binding of Na+ (LYS-556 to THR) leads to dysprothrombinemia. Thromb Haemost 2001; 85: 651-4.
    • (2001) Thromb Haemost , vol.85 , pp. 651-654
    • Sun, W.Y.1    Smirnow, D.2    Jenkins, M.L.3
  • 16
    • 0032520258 scopus 로고    scopus 로고
    • Prothrombin Greenville, Arg517-->Gln, identified in an individual heterozygous for dysprothrombinemia
    • Henriksen RA, Dunham CK, Miller LD et al. Prothrombin Greenville, Arg517-->Gln, identified in an individual heterozygous for dysprothrombinemia. Blood 1998; 91: 2026-31.
    • (1998) Blood , vol.91 , pp. 2026-2031
    • Henriksen, R.A.1    Dunham, C.K.2    Miller, L.D.3
  • 17
    • 0026785554 scopus 로고
    • Prothrombin Salakta: Substitution of glutamic acid-466 by alanine reduces the fibrinogen clotting activity and the esterase activity
    • Miyata T, Aruga R, Umeyama H et al. Prothrombin Salakta: substitution of glutamic acid-466 by alanine reduces the fibrinogen clotting activity and the esterase activity. Biochemistry 1992; 31: 7457-62.
    • (1992) Biochemistry , vol.31 , pp. 7457-7462
    • Miyata, T.1    Aruga, R.2    Umeyama, H.3
  • 18
    • 0037103210 scopus 로고    scopus 로고
    • Molecular and functional characterization of a natural homozygous Arg67His mutation in the prothrombin gene of a patient with a severe procoagulant defect contrasting with a mild hemorrhagic phenotype
    • Akhavan S, De Cristofaro R, Peyvandi F et al. Molecular and functional characterization of a natural homozygous Arg67His mutation in the prothrombin gene of a patient with a severe procoagulant defect contrasting with a mild hemorrhagic phenotype. Blood 2002; 100: 1347-53.
    • (2002) Blood , vol.100 , pp. 1347-1353
    • Akhavan, S.1    De Cristofaro, R.2    Peyvandi, F.3
  • 19
    • 0141484541 scopus 로고    scopus 로고
    • Thrombin interactions
    • Di Cera E Thrombin interactions. Chest 2003; 124: 11S-7S.
    • (2003) Chest , vol.124
    • Di Cera, E.1
  • 20
    • 0032560553 scopus 로고    scopus 로고
    • Prothrombin deficiency results in embryonic and neonatal lethality in mice
    • Sun WY, Witte DP, Degen JL et al. Prothrombin deficiency results in embryonic and neonatal lethality in mice. Proc Natl Acad Sci USA 1998; 95: 7597-602.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 7597-7602
    • Sun, W.Y.1    Witte, D.P.2    Degen, J.L.3
  • 21
    • 0032560579 scopus 로고    scopus 로고
    • Incomplete embryonic lethality and fatal neonatal hemorrhage caused by prothrombin deficiency in mice
    • Xue J, Wu Q, Westfield LA et al. Incomplete embryonic lethality and fatal neonatal hemorrhage caused by prothrombin deficiency in mice. Proc Natl Acad Sci USA 1998; 95: 7603-7.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 7603-7607
    • Xue, J.1    Wu, Q.2    Westfield, L.A.3
  • 22
    • 0031011335 scopus 로고    scopus 로고
    • Severe fetomaternal hemorrhage: A review
    • Giacoia GP Severe fetomaternal hemorrhage: a review. Obstet Gynecol Surv 1997; 52: 372-80.
    • (1997) Obstet Gynecol Surv , vol.52 , pp. 372-380
    • Giacoia, G.P.1
  • 23
    • 1242342907 scopus 로고    scopus 로고
    • Surveillance for retinopathy of prematurity in a Copenhagen high-risk sample 1999-2001. Has progress reached a plateau?
    • Fledelius HC, Gote H, Greisen G et al. Surveillance for retinopathy of prematurity in a Copenhagen high-risk sample 1999-2001. Has progress reached a plateau? Acta Ophthalmol Scand 2004; 82: 32-7.
    • (2004) Acta Ophthalmol Scand , vol.82 , pp. 32-37
    • Fledelius, H.C.1    Gote, H.2    Greisen, G.3
  • 24
    • 3042515251 scopus 로고    scopus 로고
    • Incidence of retinopathy of prematurity from 1996 to 2000: Analysis of a comprehensive New York state patient database
    • Chiang MF, Arons RR, Flynn JT et al. Incidence of retinopathy of prematurity from 1996 to 2000: analysis of a comprehensive New York state patient database. Ophthalmology 2004; 111: 1317-25.
    • (2004) Ophthalmology , vol.111 , pp. 1317-1325
    • Chiang, M.F.1    Arons, R.R.2    Flynn, J.T.3
  • 25
    • 0038343361 scopus 로고    scopus 로고
    • Management of respiratory distress syndrome: An update
    • Rodriguez RJ. Management of respiratory distress syndrome: an update. Respir Care 2003; 48: 279-86.
    • (2003) Respir Care , vol.48 , pp. 279-286
    • Rodriguez, R.J.1
  • 26
    • 0034899384 scopus 로고    scopus 로고
    • Intraventricular haemorrhage and posthaemorrhagic hydrocephalus: Pathogenesis, prevention and future interventions
    • Whitelaw A. Intraventricular haemorrhage and posthaemorrhagic hydrocephalus: pathogenesis, prevention and future interventions. Semin Neonatol 2001; 6: 135-46.
    • (2001) Semin Neonatol , vol.6 , pp. 135-146
    • Whitelaw, A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.