194 related articles for article (PubMed ID: 10527407)
1. Phenotypic consequence of the gene abnormality in the platelet glycoprotein IX gene observed in a patient with Bernard-Soulier syndrome through mammalian cell expression system.
Suzuki K; Hayashi T; Akiba J; Satoh S; Kato T
Thromb Res; 1999 Sep; 95(6):295-302. PubMed ID: 10527407
[TBL] [Abstract][Full Text] [Related]
2. Surface expression of glycoprotein ib alpha is dependent on glycoprotein ib beta: evidence from a novel mutation causing Bernard-Soulier syndrome.
Moran N; Morateck PA; Deering A; Ryan M; Montgomery RR; Fitzgerald DJ; Kenny D
Blood; 2000 Jul; 96(2):532-9. PubMed ID: 10887115
[TBL] [Abstract][Full Text] [Related]
3. A Leu7Pro mutation in the signal peptide of platelet glycoprotein (GP)IX in a case of Bernard-Soulier syndrome abolishes surface expression of the GPIb-V-IX complex.
Lanza F; De La Salle C; Baas MJ; Schwartz A; Boval B; Cazenave JP; Caen JP
Br J Haematol; 2002 Jul; 118(1):260-6. PubMed ID: 12100158
[TBL] [Abstract][Full Text] [Related]
4. [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]
5. Novel point mutation in the leucine-rich motif of the platelet glycoprotein IX associated with Bernard-Soulier syndrome.
Suzuki K; Hayashi T; Yahagi A; Akiba J; Tajima K; Satoh S; Sasaki H
Br J Haematol; 1997 Dec; 99(4):794-800. PubMed ID: 9432024
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Quaternary organization of GPIb-IX complex and insights into Bernard-Soulier syndrome revealed by the structures of GPIbβ and a GPIbβ/GPIX chimera.
McEwan PA; Yang W; Carr KH; Mo X; Zheng X; Li R; Emsley J
Blood; 2011 Nov; 118(19):5292-301. PubMed ID: 21908432
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. The critical interaction of glycoprotein (GP) IBbeta with GPIX-a genetic cause of Bernard-Soulier syndrome.
Kenny D; Morateck PA; Gill JC; Montgomery RR
Blood; 1999 May; 93(9):2968-75. PubMed ID: 10216092
[TBL] [Abstract][Full Text] [Related]
11. A point mutation in glycoprotein IX coding sequence (Cys73 (TGT) to Tyr(TAT)) causes impaired surface expression of GPIb/IX/V complex in two families with Bernard-Soulier syndrome.
Noda M; Fujimura K; Takafuta T; Shimomura T; Fujii T; Katsutani S; Fujimoto T; Kuramoto A; Yamazaki T; Mochizuki T; Matsuzaki M; Sano M
Thromb Haemost; 1996 Dec; 76(6):874-8. PubMed ID: 8972003
[TBL] [Abstract][Full Text] [Related]
12. A novel mutation in the transmembrane region of glyco-protein IX associated with Bernard-Soulier syndrome.
Wang Z; Zhao X; Duan W; Fu J; Lu M; Wang G; Bai X; Ruan C
Thromb Haemost; 2004 Sep; 92(3):606-13. PubMed ID: 15351858
[TBL] [Abstract][Full Text] [Related]
13. Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome.
Kunishima S; Tomiyama Y; Honda S; Kurata Y; Kamiya T; Ozawa K; Saito H
Br J Haematol; 1999 Dec; 107(3):539-45. PubMed ID: 10583255
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome.
Rivera CE; Villagra J; Riordan M; Williams S; Lindstrom KJ; Rick ME
Br J Haematol; 2001 Jan; 112(1):105-8. PubMed ID: 11167791
[TBL] [Abstract][Full Text] [Related]
16. Heterogeneous expression of glycoprotein Ib, IX and V in platelets from two patients with Bernard-Soulier syndrome caused by different genetic abnormalities.
Noda M; Fujimura K; Takafuta T; Shimomura T; Fujimoto T; Yamamoto N; Tanoue K; Arai M; Suehiro A; Kakishita E
Thromb Haemost; 1995 Dec; 74(6):1411-5. PubMed ID: 8772211
[TBL] [Abstract][Full Text] [Related]
17. Bernard-Soulier syndrome Kagoshima: Ser 444-->stop mutation of glycoprotein (GP) Ib alpha resulting in circulating truncated GPIb alpha and surface expression of GPIb beta and GPIX.
Kunishima S; Miura H; Fukutani H; Yoshida H; Osumi K; Kobayashi S; Ohno R; Naoe T
Blood; 1994 Nov; 84(10):3356-62. PubMed ID: 7949089
[TBL] [Abstract][Full Text] [Related]
18. A dinucleotide deletion results in defective membrane anchoring and circulating soluble glycoprotein Ib alpha in a novel form of Bernard-Soulier syndrome.
Kenny D; Newman PJ; Morateck PA; Montgomery RR
Blood; 1997 Oct; 90(7):2626-33. PubMed ID: 9326229
[TBL] [Abstract][Full Text] [Related]
19. The genetic defect in two well-studied cases of Bernard-Soulier syndrome: a point mutation in the fifth leucine-rich repeat of platelet glycoprotein Ib alpha.
Li C; Martin SE; Roth GJ
Blood; 1995 Nov; 86(10):3805-14. PubMed ID: 7579348
[TBL] [Abstract][Full Text] [Related]
20. Bernard-Soulier syndrome: novel nonsense mutation in GPIbbeta gene affecting GPIb-IX complex expression.
Hadjkacem B; Elleuch H; Gargouri J; Gargouri A
Ann Hematol; 2009 May; 88(5):465-72. PubMed ID: 18825380
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
