메뉴 건너뛰기




Volumn 8, Issue 12, 2010, Pages 2736-2742

Alterations of mRNA processing and stability as a pathogenic mechanism in von Willebrand factor quantitative deficiencies

Author keywords

Gene mutation; Inherited bleeding disorders; Von Willebrand disease; Von Willebrand factor

Indexed keywords

MESSENGER RNA; VON WILLEBRAND FACTOR;

EID: 78650014374     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2010.04060.x     Document Type: Article
Times cited : (17)

References (25)
  • 1
    • 12244272130 scopus 로고    scopus 로고
    • Von Willebrand's disease in the year 2003: towards the complete identification of gene defects for correct diagnosis and treatment
    • Castaman G, Federici AB, Rodeghiero F, Mannucci PM. Von Willebrand's disease in the year 2003: towards the complete identification of gene defects for correct diagnosis and treatment. Haematologica 2003; 88: 94-108.
    • (2003) Haematologica , vol.88 , pp. 94-108
    • Castaman, G.1    Federici, A.B.2    Rodeghiero, F.3    Mannucci, P.M.4
  • 2
    • 77952581903 scopus 로고    scopus 로고
    • The genetic basis of von Willebrand disease
    • Goodeve AC. The genetic basis of von Willebrand disease. Blood Rev 2010; 24: 124-33.
    • (2010) Blood Rev , vol.24 , pp. 124-133
    • Goodeve, A.C.1
  • 3
    • 73949125671 scopus 로고    scopus 로고
    • Premature termination codon mutations in von Willebrand factor gene are associated with allele-specific and position-dependent mRNA decay
    • Platè M, Duga S, Baronciani L, La Marca S, Rubini V, Mannucci PM, Federici AB, Asselta R. Premature termination codon mutations in von Willebrand factor gene are associated with allele-specific and position-dependent mRNA decay. Haematologica 2010; 95: 172-4.
    • (2010) Haematologica , vol.95 , pp. 172-174
    • Platè, M.1    Duga, S.2    Baronciani, L.3    La Marca, S.4    Rubini, V.5    Mannucci, P.M.6    Federici, A.B.7    Asselta, R.8
  • 6
    • 36048945922 scopus 로고    scopus 로고
    • ImageJ for microscopy
    • Collins TJ. ImageJ for microscopy. BioTechniques 2007; 43: 25-30.
    • (2007) BioTechniques , vol.43 , pp. 25-30
    • Collins, T.J.1
  • 7
    • 0034796745 scopus 로고    scopus 로고
    • Coexistence of a novel homozygous nonsense mutation in exon 13 of the factor V gene with the homozygous Leiden mutation in two unrelated patients with severe factor V deficiency
    • Van Wijk R, Montefusco MC, Duga S, Asselta R, Van Solinge W, Malcovati M, Tenchini ML, Mannucci PM. Coexistence of a novel homozygous nonsense mutation in exon 13 of the factor V gene with the homozygous Leiden mutation in two unrelated patients with severe factor V deficiency. Br J Haematol 2001; 114: 871-4.
    • (2001) Br J Haematol , vol.114 , pp. 871-874
    • Van Wijk, R.1    Montefusco, M.C.2    Duga, S.3    Asselta, R.4    Van Solinge, W.5    Malcovati, M.6    Tenchini, M.L.7    Mannucci, P.M.8
  • 8
    • 0025355882 scopus 로고
    • Analysis of cytokine mRNA and DNA: detection and quantitation by competitive polymerase chain reaction
    • Gilliland G, Perrin S, Blanchard K, Bunn HF. Analysis of cytokine mRNA and DNA: detection and quantitation by competitive polymerase chain reaction. Proc Natl Acad Sci U S A 1990; 87: 2725-9.
    • (1990) Proc Natl Acad Sci U S A , vol.87 , pp. 2725-2729
    • Gilliland, G.1    Perrin, S.2    Blanchard, K.3    Bunn, H.F.4
  • 9
    • 0035710746 scopus 로고    scopus 로고
    • Analysis of relative gene expression data using real-time quantitative PCR and the 2-δδCt method
    • Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCR and the 2-δδCt method. Methods 2001; 25: 402-8.
    • (2001) Methods , vol.25 , pp. 402-408
    • Livak, K.J.1    Schmittgen, T.D.2
  • 10
    • 33845350235 scopus 로고    scopus 로고
    • Combined partial exon skipping and cryptic splice site activation as a new molecular mechanism for recessive type 1 von Willebrand disease
    • Gallinaro L, Sartorello F, Pontara E, Cattini MG, Bertomoro A, Bartoloni L, Pagnan A, Casonato A. Combined partial exon skipping and cryptic splice site activation as a new molecular mechanism for recessive type 1 von Willebrand disease. Thromb Haemost 2006; 96: 711-6.
    • (2006) Thromb Haemost , vol.96 , pp. 711-716
    • Gallinaro, L.1    Sartorello, F.2    Pontara, E.3    Cattini, M.G.4    Bertomoro, A.5    Bartoloni, L.6    Pagnan, A.7    Casonato, A.8
  • 11
    • 67649651889 scopus 로고    scopus 로고
    • Autosomal recessive von Willebrand disease type 1 or 2 due to homozygous or compound heterozygous mutations in the von Willebrand factor gene. A single center experience on molecular heterogeneity and laboratory features in 12 families
    • Castaman G, Giacomelli S, Rodeghiero F. Autosomal recessive von Willebrand disease type 1 or 2 due to homozygous or compound heterozygous mutations in the von Willebrand factor gene. A single center experience on molecular heterogeneity and laboratory features in 12 families. Acta Haematol 2009; 121: 106-10.
    • (2009) Acta Haematol , vol.121 , pp. 106-110
    • Castaman, G.1    Giacomelli, S.2    Rodeghiero, F.3
  • 12
    • 0036166489 scopus 로고    scopus 로고
    • The factor VIII/von Willebrand factor ratio discriminates between reduced synthesis and increased clearance of von Willebrand factor
    • Eikenboom JC, Castaman G, Kamphuisen PW, Rosendaal FR, Bertina RM. The factor VIII/von Willebrand factor ratio discriminates between reduced synthesis and increased clearance of von Willebrand factor. Thromb Haemost 2002; 87: 252-7.
    • (2002) Thromb Haemost , vol.87 , pp. 252-257
    • Eikenboom, J.C.1    Castaman, G.2    Kamphuisen, P.W.3    Rosendaal, F.R.4    Bertina, R.M.5
  • 14
    • 0034912198 scopus 로고    scopus 로고
    • von Willebrand disease type 3: clinical manifestations, pathophysiology and molecular biology
    • Eikenboom JC. von Willebrand disease type 3: clinical manifestations, pathophysiology and molecular biology. Best Pract Res Clin Haematol 2001; 14: 365-79.
    • (2001) Best Pract Res Clin Haematol , vol.14 , pp. 365-379
    • Eikenboom, J.C.1
  • 15
    • 33645837652 scopus 로고    scopus 로고
    • Homozygous C2362F von Willebrand factor induces intracellular retention of mutant von Willebrand factor resulting in autosomal recessive severe von Willebrand disease
    • Tjernberg P, Castaman G, Vos HL, Bertina RM, Eikenboom JCJ. Homozygous C2362F von Willebrand factor induces intracellular retention of mutant von Willebrand factor resulting in autosomal recessive severe von Willebrand disease. Br J Haematol 2006; 133: 409-18.
    • (2006) Br J Haematol , vol.133 , pp. 409-418
    • Tjernberg, P.1    Castaman, G.2    Vos, H.L.3    Bertina, R.M.4    Eikenboom, J.C.J.5
  • 16
    • 34547623918 scopus 로고    scopus 로고
    • Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function
    • Isken O, Maquat LE. Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function. Genes Dev 2007; 21: 1833-56.
    • (2007) Genes Dev , vol.21 , pp. 1833-1856
    • Isken, O.1    Maquat, L.E.2
  • 18
    • 29144463196 scopus 로고    scopus 로고
    • A type II mutation(Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency
    • Soldá G, Asselta R, Ghiotto R, Tenchini ML, Castaman G, Duga S. A type II mutation(Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency. Haematologica 2005; 90: 1716-8.
    • (2005) Haematologica , vol.90 , pp. 1716-1718
    • Soldá, G.1    Asselta, R.2    Ghiotto, R.3    Tenchini, M.L.4    Castaman, G.5    Duga, S.6
  • 19
    • 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 1994; 84: 517-25.
    • (1994) Blood , vol.84 , pp. 517-525
    • Mikkola, H.1    Syrjälä, M.2    Rasi, V.3    Vahtera, E.4    Hämäläinen, E.5    Peltonen, L.6    Palotie, A.7
  • 20
    • 0035895061 scopus 로고    scopus 로고
    • Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs
    • Asselta R, Duga S, Spena S, Santagostino E, Peyvandi F, Piseddu G, Targhetta R, Malcovati M, Mannucci PM, Tenchini ML. Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs. Blood 2001; 98: 3685-92.
    • (2001) Blood , vol.98 , pp. 3685-3692
    • Asselta, R.1    Duga, S.2    Spena, S.3    Santagostino, E.4    Peyvandi, F.5    Piseddu, G.6    Targhetta, R.7    Malcovati, M.8    Mannucci, P.M.9    Tenchini, M.L.10
  • 21
    • 9444229917 scopus 로고    scopus 로고
    • Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells
    • Neerman-Arbez M, Germanos-Haddad M, Tzanidakis K, Vu D, Deutsch S, David A, Morris MA, De Moerloose P. Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells. Blood 2004; 104: 3618-23.
    • (2004) Blood , vol.104 , pp. 3618-3623
    • Neerman-Arbez, M.1    Germanos-Haddad, M.2    Tzanidakis, K.3    Vu, D.4    Deutsch, S.5    David, A.6    Morris, M.A.7    De Moerloose, P.8
  • 22
    • 0141707680 scopus 로고    scopus 로고
    • Analysis of the consequences of premature termination codons within factor VIII coding sequences
    • David D, Santos IM, Johnson K, Tuddenham EG, McVey HL. Analysis of the consequences of premature termination codons within factor VIII coding sequences. J Thromb Haemost 2003; 1: 139-46.
    • (2003) J Thromb Haemost , vol.1 , pp. 139-146
    • David, D.1    Santos, I.M.2    Johnson, K.3    Tuddenham, E.G.4    McVey, H.L.5
  • 23
    • 0031957351 scopus 로고    scopus 로고
    • Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin
    • Eikenboom JC, Castaman G, Vos HL, Bertina RM, Rodeghiero F. Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin. Thromb Haemost 1998; 79: 709-17.
    • (1998) Thromb Haemost , vol.79 , pp. 709-717
    • Eikenboom, J.C.1    Castaman, G.2    Vos, H.L.3    Bertina, R.M.4    Rodeghiero, F.5
  • 24
    • 0037087163 scopus 로고    scopus 로고
    • A novel family with recessive von Willebrand disease due to compound heterozygosity for a splice site mutation and a missense mutation in the von Willebrand factor gene
    • Castaman G, Novella E, Castiglia E, Eikenboom JC, Rodeghiero F. A novel family with recessive von Willebrand disease due to compound heterozygosity for a splice site mutation and a missense mutation in the von Willebrand factor gene. Thromb Res 2002; 105: 135-8.
    • (2002) Thromb Res , vol.105 , pp. 135-138
    • Castaman, G.1    Novella, E.2    Castiglia, E.3    Eikenboom, J.C.4    Rodeghiero, F.5
  • 25
    • 0034326362 scopus 로고    scopus 로고
    • Analysis of canonical and non-canonical splice sites in mammalian genomes
    • Burset M, Seledtsov IA, Solovyev VV. Analysis of canonical and non-canonical splice sites in mammalian genomes. Nucleic Acids Res 2000; 28: 4364-75.
    • (2000) Nucleic Acids Res , vol.28 , pp. 4364-4375
    • Burset, M.1    Seledtsov, I.A.2    Solovyev, V.V.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.