Page 192 - 2019_03-Haematologica-web

N. Borràs et al.
23. Nesbitt IM, Hampton KK, Preston FE,
Peake IR, Goodeve AC. A common splice site mutation is shared by two families with different type 2N von Willebrand dis- ease mutations. Thromb Haemost. 1999;82(3):1061-1064.
24. Tjernberg P, Vos HL, Castaman G, Bertina RM, Eikenboom JC. Dimerization and mul- timerization defects of von Willebrand fac- tor due to mutated cysteine residues. J Thromb Haemost. 2004;2(2):257-265.
25. Gallinaro L, Sartorello F, Pontara E, et al. Combined partial exon skipping and cryp- tic splice site activation as a new molecular mechanism for recessive type 1 von Willebrand disease. Thromb Haemost. 2006;96(6):711-716.
26. Pagliari MT, Baronciani L, Garcia Oya I, et al. A synonymous (c.3390C>T) or a splice- site (c.3380-2A>G) mutation causes exon 26 skipping in four patients with von Willebrand disease (2A/IIE). J Thromb Haemost. 2013;11(7):1251-1259.
27. Baronciani L, Federici AB, Cozzi G, et al. Expression studies of missense mutations p.D141Y, p.C275S located in the propep- tide of von Willebrand factor in patients
with type 3 von Willebrand disease.
Haemophilia. 2008;14(3):549-555.
28. Daidone V, Gallinaro L, Grazia Cattini M, et al. An apparently silent nucleotide sub- stitution (c.7056C>T) in the von Willebrand factor gene is responsible for type 1 von Willebrand disease.
Haematologica. 2011;96(6):881-887.
29. Yadegari H, Biswas A, Akhter MS, et al. Intron retention resulting from a silent mutation in the VWF gene that structurally influences the 5' splice site. Blood.
2016;128(17):2144-2152.
30. Maquat LE. Nonsense-mediated mRNA
decay: splicing, translation and mRNP dynamics. Nat Rev Mol Cell Biol. 2004;5(2): 89-99.
31. James PD, O'Brien LA, Hegadorn CA, et al. A novel type 2A von Willebrand factor mutation located at the last nucleotide of exon 26 (3538G>A) causes skipping of 2 nonadjacent exons. Blood. 2004;104(9): 2739-2745.
32. Castaman G, Plate M, Giacomelli SH, Rodeghiero F, Duga S. Alterations of mRNA processing and stability as a patho- genic mechanism in von Willebrand factor
quantitative deficiencies. J Thromb
Haemost. 2010;8(12):2736-2742.
33. James PD, Lillicrap D. von Willebrand dis- ease: clinical and laboratory lessons learned from the large von Willebrand disease stud-
ies. Am J Hematol. 2012;87 Suppl 1:S4-11. 34. Miller JN, Pearce DA. Nonsense-mediated decay in genetic disease: friend or foe?
Muta Res Rev Mutat Res. 2014;762:52-64. 35. Hawke L, Bowman ML, Poon MC, Scully MF, Rivard GE, James PD. Characterization of aberrant splicing of von Willebrand fac- tor in von Willebrand disease: an underrec- ognized mechanism. Blood. 2016;128(4):
584-593.
36. Bellissimo DB, Christopherson PA, Flood
VH, et al. VWF mutations and new sequence variations identified in healthy controls are more frequent in the African- American population. Blood. 2012;119(9): 2135-2140.
37. Wang JW, Bouwens EA, Pintao MC, et al. Analysis of the storage and secretion of von Willebrand factor in blood outgrowth endothelial cells derived from patients with von Willebrand disease. Blood. 2013;121 (14):2762-2772.
598
haematologica | 2019; 104(3)