185 related articles for article (PubMed ID: 12588349)
1. Two novel mutations, Q1053H and C1060R, located in the D3 domain of von Willebrand factor, are responsible for decreased FVIII-binding capacity.
Hilbert L; Jorieux S; Proulle V; Favier R; Goudemand J; Parquet A; Meyer D; Fressinaud E; Mazurier C;
Br J Haematol; 2003 Feb; 120(4):627-32. PubMed ID: 12588349
[TBL] [Abstract][Full Text] [Related]
2. A novel mutation in the D3 domain of von Willebrand factor markedly decreases its ability to bind factor VIII and affects its multimerization.
Jorieux S; Gaucher C; Goudemand J; Mazurier C
Blood; 1998 Dec; 92(12):4663-70. PubMed ID: 9845532
[TBL] [Abstract][Full Text] [Related]
3. Type 2N von Willebrand disease due to compound heterozygosity for R854Q and a novel R763G mutation at the cleavage site of von Willebrand factor propeptide.
Hilbert L; Nurden P; Caron C; Nurden AT; Goudemand J; Meyer D; Fressinaud E; Mazurier C;
Thromb Haemost; 2006 Sep; 96(3):290-4. PubMed ID: 16953269
[TBL] [Abstract][Full Text] [Related]
4. The D' domain of von Willebrand factor requires the presence of the D3 domain for optimal factor VIII binding.
Przeradzka MA; Meems H; van der Zwaan C; Ebberink EHTM; van den Biggelaar M; Mertens K; Meijer AB
Biochem J; 2018 Sep; 475(17):2819-2830. PubMed ID: 30111575
[TBL] [Abstract][Full Text] [Related]
5. Expression of two type 2N von Willebrand disease mutations identified in exon 18 of von Willebrand factor gene.
Hilbert L; Jorieux S; Fontenay-Roupie M; Guicheteau M; Fressinaud E; Meyer D; Mazurier C;
Br J Haematol; 2004 Oct; 127(2):184-9. PubMed ID: 15461624
[TBL] [Abstract][Full Text] [Related]
6. Diagnosis of von Willebrand disease type 2N: a simplified method for measurement of factor VIII binding to von Willebrand factor.
Miller CH; Kelley L; Green D
Am J Hematol; 1998 Aug; 58(4):311-8. PubMed ID: 9692396
[TBL] [Abstract][Full Text] [Related]
7. The defective interaction between von Willebrand factor and factor VIII in a patient with type 1 von Willebrand disease is caused by substitution of Arg19 and His54 in mature von Willebrand factor.
Kroner PA; Foster PA; Fahs SA; Montgomery RR
Blood; 1996 Feb; 87(3):1013-21. PubMed ID: 8562925
[TBL] [Abstract][Full Text] [Related]
8. Recombinant expression of mutations causing von Willebrand disease type Normandy: characterization of a combined defect of factor VIII binding and multimerization.
Schneppenheim R; Lenk H; Obser T; Oldenburg J; Oyen F; Schneppenheim S; Schwaab R; Will K; Budde U
Thromb Haemost; 2004 Jul; 92(1):36-41. PubMed ID: 15213842
[TBL] [Abstract][Full Text] [Related]
9. Recessive von Willebrand disease type 2 Normandy: variable expression of mild hemophilia and VWD type 1.
Michiels JJ; Gadisseur A; Vangenegten I; Schroyens W; Berneman Z
Acta Haematol; 2009; 121(2-3):119-27. PubMed ID: 19506358
[TBL] [Abstract][Full Text] [Related]
10. The mutation Arg (53)----Trp causes von Willebrand disease Normandy by abolishing binding to factor VIII. Studies with recombinant von Willebrand factor.
Jorieux S; Tuley EA; Gaucher C; Mazurier C; Sadler JE
Blood; 1992 Feb; 79(3):563-7. PubMed ID: 1732004
[TBL] [Abstract][Full Text] [Related]
11. Laboratory diagnosis of von Willebrand disease type 1/2E (2A subtype IIE), type 1 Vicenza and mild type 1 caused by mutations in the D3, D4, B1-B3 and C1-C2 domains of the von Willebrand factor gene. Role of von Willebrand factor multimers and the von Willebrand factor propeptide/antigen ratio.
Gadisseur A; Berneman Z; Schroyens W; Michiels JJ
Acta Haematol; 2009; 121(2-3):128-38. PubMed ID: 19506359
[TBL] [Abstract][Full Text] [Related]
12. Laboratory diagnosis and molecular classification of von Willebrand disease.
Gadisseur A; Hermans C; Berneman Z; Schroyens W; Deckmyn H; Michiels JJ
Acta Haematol; 2009; 121(2-3):71-84. PubMed ID: 19506352
[TBL] [Abstract][Full Text] [Related]
13. Conformational changes in the D' domain of von Willebrand factor induced by CYS 25 and CYS 95 mutations lead to factor VIII binding defect and multimeric impairment.
Jorieux S; Fressinaud E; Goudemand J; Gaucher C; Meyer D; Mazurier C
Blood; 2000 May; 95(10):3139-45. PubMed ID: 10807780
[TBL] [Abstract][Full Text] [Related]
14. Homozygous type 2N R854W von Willebrand factor is poorly secreted and causes a severe von Willebrand disease phenotype.
Castaman G; Giacomelli SH; Jacobi P; Obser T; Budde U; Rodeghiero F; Haberichter SL; Schneppenheim R
J Thromb Haemost; 2010 Sep; 8(9):2011-6. PubMed ID: 20586924
[TBL] [Abstract][Full Text] [Related]
15. The evaluation of factor VIII binding activity of von Willebrand factor by means of an ELISA method: significance and practical implications.
Casonato A; Pontara E; Zerbinati P; Zucchetto A; Girolami A
Am J Clin Pathol; 1998 Mar; 109(3):347-52. PubMed ID: 9495210
[TBL] [Abstract][Full Text] [Related]
16. N1421K mutation in the glycoprotein Ib binding domain impairs ristocetin- and botrocetin-mediated binding of von Willebrand factor to platelets.
Lanke E; Kristoffersson AC; Isaksson C; Holmberg L; Lethagen S
Eur J Haematol; 2008 Nov; 81(5):384-90. PubMed ID: 18637125
[TBL] [Abstract][Full Text] [Related]
17. Factor VIII-von Willebrand factor binding defects in autosomal recessive von Willebrand disease type Normandy and in mild hemophilia A. New insights into factor VIII-von Willebrand factor interactions.
Jacquemin M
Acta Haematol; 2009; 121(2-3):102-5. PubMed ID: 19506355
[TBL] [Abstract][Full Text] [Related]
18. Abnormal von Willebrand factor secretion, factor VIII stabilization and thrombus dynamics in type 2N von Willebrand disease mice.
Swystun LL; Georgescu I; Mewburn J; Deforest M; Nesbitt K; Hebert K; Dwyer C; Brown C; Notley C; Lillicrap D
J Thromb Haemost; 2017 Aug; 15(8):1607-1619. PubMed ID: 28581694
[TBL] [Abstract][Full Text] [Related]
19. Identification of two point mutations in the von Willebrand factor gene of three families with the 'Normandy' variant of von Willebrand disease.
Gaucher C; Mercier B; Jorieux S; Oufkir D; Mazurier C
Br J Haematol; 1991 Aug; 78(4):506-14. PubMed ID: 1832934
[TBL] [Abstract][Full Text] [Related]
20. Abnormal binding of factor VIII is linked with the substitution of glutamine for arginine 91 in von Willebrand factor in a variant form of von Willebrand disease.
Kroner PA; Friedman KD; Fahs SA; Scott JP; Montgomery RR
J Biol Chem; 1991 Oct; 266(29):19146-9. PubMed ID: 1918030
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
