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Volumn 89, Issue 4, 1997, Pages 1279-1287

Molecular mechanism of a mild phenotype in coagulation factor XIII (FXIII) deficiency: A splicing mutation permitting partial correct splicing of FXIII A-subunit mRNA

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 13; MESSENGER RNA; RECEPTOR SUBUNIT;

EID: 0031055171     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v89.4.1279     Document Type: Article
Times cited : (44)

References (39)
  • 1
    • 0018890534 scopus 로고
    • Human factor XIII: Fibrin-stabilizing factor
    • Spaet TH (ed): Philadelphia, PA, Grune & Stratton
    • Lorand L, Losowsky MS, Miloszewski KJM: Human factor XIII: Fibrin-stabilizing factor, in Spaet TH (ed): Progress in Hemostasis and Thrombosis, vol 5. Philadelphia, PA, Grune & Stratton, 1980, p 245
    • (1980) Progress in Hemostasis and Thrombosis , vol.5 , pp. 245
    • Lorand, L.1    Losowsky, M.S.2    Miloszewski, K.J.M.3
  • 7
    • 0022004141 scopus 로고
    • Identification of intracellular factor XIII in human monocytes and macrophages
    • Henriksson P, Becker S, Lynch G, McDonagh J: Identification of intracellular factor XIII in human monocytes and macrophages. J Clin Invest 76:528, 1985
    • (1985) J Clin Invest , vol.76 , pp. 528
    • Henriksson, P.1    Becker, S.2    Lynch, G.3    McDonagh, J.4
  • 8
    • 0030055522 scopus 로고    scopus 로고
    • Three different cell types can synthesize FXIII subunit a in the human liver
    • Adany R, Antal R: Three different cell types can synthesize FXIII subunit A in the human liver. Thromb Haemost 76:74, 1996
    • (1996) Thromb Haemost , vol.76 , pp. 74
    • Adany, R.1    Antal, R.2
  • 9
    • 0028322985 scopus 로고
    • Transglutaminases: Protein cross-linking enzymes in tissues and body fluids
    • Aeschlimann D, Paulsson M: Transglutaminases: Protein cross-linking enzymes in tissues and body fluids. Thromb Haemost 71:402, 1994
    • (1994) Thromb Haemost , vol.71 , pp. 402
    • Aeschlimann, D.1    Paulsson, M.2
  • 10
  • 11
    • 0026700992 scopus 로고
    • Identification of a point mutation in factor XIII A subunit deficiency
    • Board P, Coggan M, Miloszewski KJM: Identification of a point mutation in factor XIII A subunit deficiency. Blood 80:937, 1992
    • (1992) Blood , vol.80 , pp. 937
    • Board, P.1    Coggan, M.2    Miloszewski, K.J.M.3
  • 12
    • 0027333222 scopus 로고
    • Bristol 1: Detection of a nonsense mutation (Arg171 → stop codon) in factor XIII deficiency
    • Bristol 1: Detection of a nonsense mutation (Arg171 → stop codon) in factor XIII deficiency. Br J Haematol 85:769, 1993
    • (1993) Br J Haematol , vol.85 , pp. 769
    • Standen, G.R.1    Bowen, D.J.2
  • 13
    • 0028233152 scopus 로고
    • Deficiency in the A-subunit of coagulation factor XIII: Two novel point mutations demonstrate different effects on transcript levels
    • Mikkola H, Syrjälä M, Rasi V, Vahtera E, Hämäläinen E, Peltonen L, Palotie A: Deficiency in the A-subunit of coagulation factor XIII: Two novel point mutations demonstrate different effects on transcript levels. Blood 84:517, 1994
    • (1994) Blood , vol.84 , pp. 517
    • Mikkola, H.1    Syrjälä, M.2    Rasi, V.3    Vahtera, E.4    Hämäläinen, E.5    Peltonen, L.6    Palotie, A.7
  • 14
    • 0029048415 scopus 로고
    • A point mutation in an invariant splice acceptor site results in a decreased mRNA level in a patient with severe coagulation factor XIII subunit A deficiency
    • Vreken P, Niessen RWLM, Peters M, Schaap MCL, Zuithoff-Rijntjes JGM, Sturk A: A point mutation in an invariant splice acceptor site results in a decreased mRNA level in a patient with severe coagulation factor XIII subunit A deficiency. Thromb Haemost 74:584, 1995
    • (1995) Thromb Haemost , vol.74 , pp. 584
    • Vreken, P.1    Niessen, R.W.L.M.2    Peters, M.3    Schaap, M.C.L.4    Zuithoff-Rijntjes, J.G.M.5    Sturk, A.6
  • 15
    • 0028973614 scopus 로고
    • A caigary : A candidate missense mutation (Leu667 → Pro) in the beta barrel 2 domain of the factor XIIIA subunit
    • A caigary : A candidate missense mutation (Leu667 → Pro) in the beta barrel 2 domain of the factor XIIIA subunit. Br J Haematol 91:452, 1995
    • (1995) Br J Haematol , vol.91 , pp. 452
    • Aslam, S.1    Poon, M.-C.2    Yee, V.C.3    Bowen, D.J.4    Standen, G.5
  • 16
    • 0028820520 scopus 로고
    • Molecular basis of inherited factor XIII deficiency: Identification of multiple mutations provides insights into protein function
    • Anwar R, Stewart AD, Miloszewski KJA, Losowsky MS, Markham AF: Molecular basis of inherited factor XIII deficiency: Identification of multiple mutations provides insights into protein function. Br J Haematol 91:728, 1995
    • (1995) Br J Haematol , vol.91 , pp. 728
    • Anwar, R.1    Stewart, A.D.2    Miloszewski, K.J.A.3    Losowsky, M.S.4    Markham, A.F.5
  • 18
    • 0029794496 scopus 로고    scopus 로고
    • New mutations causing the premature termination of translation in the A subunit gene of coagulation factor XIII
    • Kangsadalampai S, Farges-Berth A, Caglayan SH, Board PG: New mutations causing the premature termination of translation in the A subunit gene of coagulation factor XIII. Thromb Haemost 76:139, 1996
    • (1996) Thromb Haemost , vol.76 , pp. 139
    • Kangsadalampai, S.1    Farges-Berth, A.2    Caglayan, S.H.3    Board, P.G.4
  • 20
    • 0023803842 scopus 로고
    • Characterization of the gene for the a subunit of human coagulation factor XIII
    • Ichinose A, Davie EW: Characterization of the gene for the a subunit of human coagulation factor XIII. Proc Natl Acad Sci USA 231:15, 1988
    • (1988) Proc Natl Acad Sci USA , vol.231 , pp. 15
    • Ichinose, A.1    Davie, E.W.2
  • 21
    • 0024595101 scopus 로고
    • Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
    • Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T: Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 86:2766, 1989
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 2766
    • Orita, M.1    Iwahana, H.2    Kanazawa, H.3    Hayashi, K.4    Sekiya, T.5
  • 22
    • 0024437865 scopus 로고
    • Direct sequencing of affinity-captured amplified human DNA application to the detection of apolipoprotein e polymorphism
    • Syvänen AC, Aalto-Setälä K, Kontula K, Söderlund H: Direct sequencing of affinity-captured amplified human DNA application to the detection of apolipoprotein E polymorphism. FEBS Lett 258:71, 1989
    • (1989) FEBS Lett , vol.258 , pp. 71
    • Syvänen, A.C.1    Aalto-Setälä, K.2    Kontula, K.3    Söderlund, H.4
  • 23
  • 24
    • 0015463837 scopus 로고
    • A filter paper assay for transamidating enzymes using radioactive amine Substrates
    • Lorand L, Campbell-Wilkes LK, Cooperstein L: A filter paper assay for transamidating enzymes using radioactive amine Substrates. Anal Biochem 50:623, 1972
    • (1972) Anal Biochem , vol.50 , pp. 623
    • Lorand, L.1    Campbell-Wilkes, L.K.2    Cooperstein, L.3
  • 25
    • 0027512006 scopus 로고
    • Platelet factor XIII becomes active without the release of activation peptide during platelet activation
    • Muszbek L, Polgar J, Boda Z: Platelet factor XIII becomes active without the release of activation peptide during platelet activation. Thromb Hemost 69:282, 1993
    • (1993) Thromb Hemost , vol.69 , pp. 282
    • Muszbek, L.1    Polgar, J.2    Boda, Z.3
  • 26
    • 0022811920 scopus 로고
    • Type I and type II disease in congenital factor XIII deficiency
    • Girolami A, Cappellato MG, Lazzaro AR, Boscaro M: Type I and type II disease in congenital factor XIII deficiency. Blut 53:411, 1986
    • (1986) Blut , vol.53 , pp. 411
    • Girolami, A.1    Cappellato, M.G.2    Lazzaro, A.R.3    Boscaro, M.4
  • 28
    • 0027175815 scopus 로고
    • Two genetic defects in a patient with complete deficiency of the b-subunit for coagulation factor XIII
    • Hashiguchi T, Saito M, Morishita E, Matsuda T, Ichinose A: Two genetic defects in a patient with complete deficiency of the b-subunit for coagulation factor XIII. Blood 82:145, 1993
    • (1993) Blood , vol.82 , pp. 145
    • Hashiguchi, T.1    Saito, M.2    Morishita, E.3    Matsuda, T.4    Ichinose, A.5
  • 29
    • 0029947440 scopus 로고    scopus 로고
    • Type I factor XIII deficiency is caused by a genetic defect of its b subunit: Insertion of triplet exon III leads to a premature termination in the second sushi domain
    • Izumi T, Hashiguchi T, Castaman G, Tosetto A, Rodeghiero F, Girolami A, Ichinose A: Type I factor XIII deficiency is caused by a genetic defect of its b subunit: Insertion of triplet exon III leads to a premature termination in the second sushi domain. Blood 87:2769, 1996
    • (1996) Blood , vol.87 , pp. 2769
    • Izumi, T.1    Hashiguchi, T.2    Castaman, G.3    Tosetto, A.4    Rodeghiero, F.5    Girolami, A.6    Ichinose, A.7
  • 30
    • 0025607863 scopus 로고
    • Cross-linked Aα-γ hybrids serve as unique markers for fibrinogen polymerized by tissue transglutaminase
    • Murthy SNP, Lorand L: Cross-linked Aα-γ hybrids serve as unique markers for fibrinogen polymerized by tissue transglutaminase. Proc Natl Acad Sci USA 87:9679, 1990
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 9679
    • Murthy, S.N.P.1    Lorand, L.2
  • 31
    • 0025840251 scopus 로고
    • Intramolecular cross-linking of monomeric fibrinogen by tissue transglutaminase
    • Murthy SNP, Wilson J, Guy SL, Lorand L: Intramolecular cross-linking of monomeric fibrinogen by tissue transglutaminase. Proc Natl Acad Sci USA 88:10601, 1991
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 10601
    • Murthy, S.N.P.1    Wilson, J.2    Guy, S.L.3    Lorand, L.4
  • 32
    • 0015092656 scopus 로고
    • The effect of fibrin-stabilizing factor on the subunit structure of human fibrin
    • Schwanz ML, Pizzo SV, Hill RL: The effect of fibrin-stabilizing factor on the subunit structure of human fibrin. J Clin Invest 50:1506, 1971
    • (1971) J Clin Invest , vol.50 , pp. 1506
    • Schwanz, M.L.1    Pizzo, S.V.2    Hill, R.L.3
  • 33
    • 0029089179 scopus 로고
    • Molecular genetics of coagulation factor VIII gene and hemophilia A
    • Antonarakis SE: Molecular genetics of coagulation factor VIII gene and hemophilia A. Thromb Hemost 74:322, 1995
    • (1995) Thromb Hemost , vol.74 , pp. 322
    • Antonarakis, S.E.1
  • 34
    • 0026794668 scopus 로고
    • The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes
    • Krawczak M, Reiss J, Cooper D: The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes. Hum Genet 90:41, 1992
    • (1992) Hum Genet , vol.90 , pp. 41
    • Krawczak, M.1    Reiss, J.2    Cooper, D.3
  • 35
    • 0020620321 scopus 로고
    • Specific transcription and RNA splicing defects in five cloned β-thalassemia genes
    • Treisman R, Orkin SH, Maniatis T: Specific transcription and RNA splicing defects in five cloned β-thalassemia genes. Nature 302:591, 1983
    • (1983) Nature , vol.302 , pp. 591
    • Treisman, R.1    Orkin, S.H.2    Maniatis, T.3
  • 37
    • 0028205961 scopus 로고
    • Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: A possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency
    • Arredondo-Vega FX, Santisteban I, Kelly S, Schlossman CM, Umetsu DT, Hershfield MS: Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: A possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency. Am J Hum Genet 54:820, 1994
    • (1994) Am J Hum Genet , vol.54 , pp. 820
    • Arredondo-Vega, F.X.1    Santisteban, I.2    Kelly, S.3    Schlossman, C.M.4    Umetsu, D.T.5    Hershfield, M.S.6
  • 38
    • 0028973522 scopus 로고
    • T → A transversion 11 bp from a splice acceptor site in the human gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia
    • Tee M, Lin D, Sugawara T, Holt JA, Guiguen Y, Buckinham B, Strauss JF, Miller WL: T → A transversion 11 bp from a splice acceptor site in the human gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia. Hum Mol Genet 4:2299, 1995
    • (1995) Hum Mol Genet , vol.4 , pp. 2299
    • Tee, M.1    Lin, D.2    Sugawara, T.3    Holt, J.A.4    Guiguen, Y.5    Buckinham, B.6    Strauss, J.F.7    Miller, W.L.8
  • 39
    • 0023245404 scopus 로고
    • Signals for the selection of a splice site pre-mRNA: Computer analysis of splice junctions sequences and like sequences
    • Ohshima Y, Gotoh Y: Signals for the selection of a splice site pre-mRNA: Computer analysis of splice junctions sequences and like sequences. J Mol Biol 195:247, 1987
    • (1987) J Mol Biol , vol.195 , pp. 247
    • Ohshima, Y.1    Gotoh, Y.2


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