203 related articles for article (PubMed ID: 1729889)
1. Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease.
Murray EW; Giles AR; Lillicrap D
Am J Hum Genet; 1992 Jan; 50(1):199-207. PubMed ID: 1729889
[TBL] [Abstract][Full Text] [Related]
2. Recurring mutations at CpG dinucleotides in the region of the von Willebrand factor gene encoding the glycoprotein Ib binding domain, in patients with type IIB von Willebrand's disease.
Lillicrap D; Murray EW; Benford K; Blanchette VS; Rivard GE; Wensley R; Giles AR
Br J Haematol; 1991 Dec; 79(4):612-7. PubMed ID: 1772783
[TBL] [Abstract][Full Text] [Related]
3. Duplication of a methionine within the glycoprotein Ib binding domain of von Willebrand factor detected by denaturing gradient gel electrophoresis in a patient with type IIB von Willebrand disease.
Ribba AS; Lavergne JM; Bahnak BR; Derlon A; Piétu G; Meyer D
Blood; 1991 Oct; 78(7):1738-43. PubMed ID: 1912563
[TBL] [Abstract][Full Text] [Related]
4. Molecular study of von Willebrand disease: identification of potential mutations in patients with type IIA and type IIB.
Piétu G; Ribba AS; de Paillette L; Chérel G; Lavergne JM; Bahnak BR; Meyer D
Blood Coagul Fibrinolysis; 1992 Aug; 3(4):415-21. PubMed ID: 1420817
[TBL] [Abstract][Full Text] [Related]
5. Expressed full-length von Willebrand factor containing missense mutations linked to type IIB von Willebrand disease shows enhanced binding to platelets.
Kroner PA; Kluessendorf ML; Scott JP; Montgomery RR
Blood; 1992 Apr; 79(8):2048-55. PubMed ID: 1373334
[TBL] [Abstract][Full Text] [Related]
6. Type IIB mutation His-505-->Asp implicates a new segment in the control of von Willebrand factor binding to platelet glycoprotein Ib.
Rabinowitz I; Randi AM; Shindler KS; Tuley EA; Rustagi PK; Sadler JE
J Biol Chem; 1993 Sep; 268(27):20497-501. PubMed ID: 8376405
[TBL] [Abstract][Full Text] [Related]
7. Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences.
Randi AM; Rabinowitz I; Mancuso DJ; Mannucci PM; Sadler JE
J Clin Invest; 1991 Apr; 87(4):1220-6. PubMed ID: 2010538
[TBL] [Abstract][Full Text] [Related]
8. Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease.
Miller JL; Cunningham D; Lyle VA; Finch CN
Proc Natl Acad Sci U S A; 1991 Jun; 88(11):4761-5. PubMed ID: 2052556
[TBL] [Abstract][Full Text] [Related]
9. Substitution of Val for Met at residue 239 of platelet glycoprotein Ib alpha in Japanese patients with platelet-type von Willebrand disease.
Takahashi H; Murata M; Moriki T; Anbo H; Furukawa T; Nikkuni K; Shibata A; Handa M; Kawai Y; Watanabe K
Blood; 1995 Feb; 85(3):727-33. PubMed ID: 7833477
[TBL] [Abstract][Full Text] [Related]
10. Defects in type IIA von Willebrand disease: a cysteine 509 to arginine substitution in the mature von Willebrand factor disrupts a disulphide loop involved in the interaction with platelet glycoprotein Ib-IX.
Lavergne JM; De Paillette L; Bahnak BR; Ribba AS; Fressinaud E; Meyer D; Pietu G
Br J Haematol; 1992 Sep; 82(1):66-72. PubMed ID: 1419804
[TBL] [Abstract][Full Text] [Related]
11. Identification of a point mutation in type IIB von Willebrand disease illustrating the regulation of von Willebrand factor affinity for the platelet membrane glycoprotein Ib-IX receptor.
Ware J; Dent JA; Azuma H; Sugimoto M; Kyrle PA; Yoshioka A; Ruggeri ZM
Proc Natl Acad Sci U S A; 1991 Apr; 88(7):2946-50. PubMed ID: 2011604
[TBL] [Abstract][Full Text] [Related]
12. Cosegregation of von Willebrand factor gene polymorphisms and possible germinal mosaicism in type IIB von Willebrand disease.
Murray EW; Giles AR; Bridge PJ; Peake IR; Lillicrap DP
Blood; 1991 Apr; 77(7):1476-83. PubMed ID: 2009368
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Effect of type IIB von Willebrand disease mutation Arg(545)Cys on platelet glycoprotein Ib binding--studies with recombinant von Willebrand factor.
Inbal A; Kornbrot N; Harrison P; Randi AM; Sadler JE
Thromb Haemost; 1993 Dec; 70(6):1058-62. PubMed ID: 8165601
[TBL] [Abstract][Full Text] [Related]
15. Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ib alpha gene associated with a hyperactive surface receptor.
Russell SD; Roth GJ
Blood; 1993 Apr; 81(7):1787-91. PubMed ID: 8384898
[TBL] [Abstract][Full Text] [Related]
16. The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain.
Cooney KA; Nichols WC; Bruck ME; Bahou WF; Shapiro AD; Bowie EJ; Gralnick HR; Ginsburg D
J Clin Invest; 1991 Apr; 87(4):1227-33. PubMed ID: 1672694
[TBL] [Abstract][Full Text] [Related]
17. Characterization of recombinant von Willebrand factor corresponding to mutations in type IIA and type IIB von Willebrand disease.
Ribba AS; Voorberg J; Meyer D; Pannekoek H; Pietu G
J Biol Chem; 1992 Nov; 267(32):23209-15. PubMed ID: 1429668
[TBL] [Abstract][Full Text] [Related]
18. Discrepancy between IIA phenotype and IIB genotype in a patient with a variant of von Willebrand disease.
Ribba AS; Christophe O; Derlon A; Cherel G; Siguret V; Lavergne JM; Girma JP; Meyer D; Pietu G
Blood; 1994 Feb; 83(3):833-41. PubMed ID: 8298143
[TBL] [Abstract][Full Text] [Related]
19. Recombinant von Willebrand factor Arg578-->Gln. A type IIB von Willebrand disease mutation affects binding to glycoprotein Ib but not to collagen or heparin.
Randi AM; Jorieux S; Tuley EA; Mazurier C; Sadler JE
J Biol Chem; 1992 Oct; 267(29):21187-92. PubMed ID: 1400429
[TBL] [Abstract][Full Text] [Related]
20. Comparative analysis of type 2b von Willebrand disease mutations: implications for the mechanism of von Willebrand factor binding to platelets.
Cooney KA; Ginsburg D
Blood; 1996 Mar; 87(6):2322-8. PubMed ID: 8630394
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]