264 related articles for article (PubMed ID: 10887115)
21. Bernard-Soulier syndrome caused by a dinucleotide deletion and reading frameshift in the region encoding the glycoprotein Ib alpha transmembrane domain.
Afshar-Kharghan V; López JA
Blood; 1997 Oct; 90(7):2634-43. PubMed ID: 9326230
[TBL] [Abstract][Full Text] [Related]
22. A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome.
Noris P; Simsek S; Stibbe J; von dem Borne AE
Br J Haematol; 1997 May; 97(2):312-20. PubMed ID: 9163595
[TBL] [Abstract][Full Text] [Related]
23. Novel heterozygous missense mutation in the platelet glycoprotein Ib beta gene associated with isolated giant platelet disorder.
Kunishima S; Naoe T; Kamiya T; Saito H
Am J Hematol; 2001 Dec; 68(4):249-55. PubMed ID: 11754414
[TBL] [Abstract][Full Text] [Related]
24. Occurrence of the Asn45Ser mutation in the GPIX gene in a Belgian patient with Bernard Soulier syndrome.
Vanhoorelbeke K; Schlammadinger A; Delville JP; Handsaeme J; Vandecasteele G; Vauterin S; Pradier O; Wijns W; Deckmyn H
Platelets; 2001 Mar; 12(2):114-20. PubMed ID: 11297032
[TBL] [Abstract][Full Text] [Related]
25. Bernard-Soulier syndrome Karlstad: Trp 498-->Stop mutation resulting in a truncated glycoprotein Ib alpha that contains part of the transmembranous domain.
Holmberg L; Karpman D; Nilsson I; Olofsson T
Br J Haematol; 1997 Jul; 98(1):57-63. PubMed ID: 9233564
[TBL] [Abstract][Full Text] [Related]
26. A missense mutation (Tyr88 to Cys) in the platelet membrane glycoprotein Ibbeta gene affects GPIb/IX complex expression--Bernard-Soulier syndrome in the homozygous form and giant platelets in the heterozygous form.
Kurokawa Y; Ishida F; Kamijo T; Kunishima S; Kenny D; Kitano K; Koike K
Thromb Haemost; 2001 Nov; 86(5):1249-56. PubMed ID: 11816714
[TBL] [Abstract][Full Text] [Related]
27. A Novel Mutation in
Barozzi S; Bozzi V; De Rocco D; Giangregorio T; Noris P; Savoia A; Pecci A
Int J Mol Sci; 2021 Sep; 22(19):. PubMed ID: 34638529
[TBL] [Abstract][Full Text] [Related]
28. Role of the leucine-rich domain of platelet GPIbalpha in correct post-translational processing--the Nancy I Bernard-Soulier mutation expressed on CHO cells.
Ulsemer P; Lanza F; Baas MJ; Schwartz A; Ravanat C; Briquel ME; Cranmer S; Jackson S; Cazenave JP; de la Salle C
Thromb Haemost; 2000 Jul; 84(1):104-11. PubMed ID: 10928479
[TBL] [Abstract][Full Text] [Related]
29. Unaccompanied mechanosensory domain mediates low expression of glycoprotein Ibα: implications for Bernard-Soulier syndrome.
Tao Y; Gan C; Zhang X; Liu L; Zakas PM; Doering CB; Mo X; Li R
J Thromb Haemost; 2020 Feb; 18(2):510-517. PubMed ID: 31749281
[TBL] [Abstract][Full Text] [Related]
30. Bernard-Soulier syndrome with severe bleeding: absent platelet glycoprotein Ib alpha due to a homozygous one-base deletion.
Li C; Pasquale DN; Roth GJ
Thromb Haemost; 1996 Nov; 76(5):670-4. PubMed ID: 8950770
[TBL] [Abstract][Full Text] [Related]
31. Synthesis of GPIb beta with novel transmembrane and cytoplasmic sequences in a Bernard-Soulier patient resulting in GPIb-defective signaling in CHO cells.
Strassel C; David T; Eckly A; Baas MJ; Moog S; Ravanat C; Trzeciak MC; Vinciguerra C; Cazenave JP; Gachet C; Lanza F
J Thromb Haemost; 2006 Jan; 4(1):217-28. PubMed ID: 16409472
[TBL] [Abstract][Full Text] [Related]
32. Disruption of the Cys5-Cys7 disulfide bridge in the platelet glycoprotein Ibbeta prevents the normal maturation and surface exposure of GPIb-IX complexes.
González-Manchón C; Butta N; Iruín G; Alonso S; Ayuso MS; Parrilla R
Thromb Haemost; 2003 Sep; 90(3):456-64. PubMed ID: 12958615
[TBL] [Abstract][Full Text] [Related]
33. A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV.
Noris P; Arbustini E; Spedini P; Belletti S; Balduini CL
Br J Haematol; 1998 Dec; 103(4):1004-13. PubMed ID: 9886312
[TBL] [Abstract][Full Text] [Related]
34. [Molecular biological study of glycoprotein IX gene defect in Bernard-Soulier syndrome].
Zhao XJ; Wang ZY; Duan WM; Fu JX; Lu ME; Wang JM; Bai X; Ruan CG
Zhonghua Xue Ye Xue Za Zhi; 2003 Sep; 24(9):480-3. PubMed ID: 14575593
[TBL] [Abstract][Full Text] [Related]
35. Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IX.
Clemetson JM; Kyrle PA; Brenner B; Clemetson KJ
Blood; 1994 Aug; 84(4):1124-31. PubMed ID: 8049428
[TBL] [Abstract][Full Text] [Related]
36. Molecular pathogenesis of Bernard-Soulier syndrome.
Hayashi T; Suzuki K
Semin Thromb Hemost; 2000; 26(1):53-9. PubMed ID: 10805283
[TBL] [Abstract][Full Text] [Related]
37. First Turkish case of Bernard-Soulier syndrome associated with GPIX N45S.
Dağistan N; Kunishima S
Acta Haematol; 2007; 118(3):146-8. PubMed ID: 17804902
[TBL] [Abstract][Full Text] [Related]
38. A novel homozygous 8-base pair deletion mutation in the glycoprotein Ibalpha gene in a patient with Bernard-Soulier syndrome.
Imai C; Kunishima S; Takachi T; Iwabuchi H; Nemoto T; Imamura M; Uchiyama M
Blood Coagul Fibrinolysis; 2009 Sep; 20(6):470-4. PubMed ID: 19448529
[TBL] [Abstract][Full Text] [Related]
39. Bernard-Soulier syndrome: an update.
Andrews RK; Berndt MC
Semin Thromb Hemost; 2013 Sep; 39(6):656-62. PubMed ID: 23929303
[TBL] [Abstract][Full Text] [Related]
40. The cysteine knot of platelet glycoprotein Ib beta (GPIb beta) is critical for the interaction of GPIb beta with GPIX.
Kenny D; Morateck PA; Montgomery RR
Blood; 2002 Jun; 99(12):4428-33. PubMed ID: 12036872
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
