238 related articles for article (PubMed ID: 34638529)
1. 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]
2. Lentiviral gene rescue of a Bernard-Soulier mouse model to study platelet glycoprotein Ibβ function.
Strassel C; Bull A; Moog S; Receveur N; Mallo L; Mangin P; Eckly A; Freund M; Dubart-Kupperschmitt A; Gachet C; Lanza F
J Thromb Haemost; 2016 Jul; 14(7):1470-9. PubMed ID: 27148783
[TBL] [Abstract][Full Text] [Related]
3. Molecular genetic analysis of a variant Bernard-Soulier syndrome due to compound heterozygosity for two novel glycoprotein Ibbeta mutations.
Kunishima S; Sako M; Yamazaki T; Hamaguchi M; Saito H
Eur J Haematol; 2006 Dec; 77(6):501-12. PubMed ID: 16978236
[TBL] [Abstract][Full Text] [Related]
4. Spectrum of the mutations in Bernard-Soulier syndrome.
Savoia A; Kunishima S; De Rocco D; Zieger B; Rand ML; Pujol-Moix N; Caliskan U; Tokgoz H; Pecci A; Noris P; Srivastava A; Ward C; Morel-Kopp MC; Alessi MC; Bellucci S; Beurrier P; de Maistre E; Favier R; Hézard N; Hurtaud-Roux MF; Latger-Cannard V; Lavenu-Bombled C; Proulle V; Meunier S; Négrier C; Nurden A; Randrianaivo H; Fabris F; Platokouki H; Rosenberg N; HadjKacem B; Heller PG; Karimi M; Balduini CL; Pastore A; Lanza F
Hum Mutat; 2014 Sep; 35(9):1033-45. PubMed ID: 24934643
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. A novel hemizygous Bernard-Soulier Syndrome (BSS) mutation in the amino terminal domain of glycoprotein (GP)Ibbeta--platelet characterization and transfection studies.
Hillmann A; Nurden A; Nurden P; Combrié R; Claeyssens S; Moran N; Kenny D
Thromb Haemost; 2002 Dec; 88(6):1026-32. PubMed ID: 12529755
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. A
Skalníková M; Staňo Kozubík K; Trizuljak J; Vrzalová Z; Radová L; Réblová K; Holbová R; Kurucová T; Svozilová H; Štika J; Blaháková I; Dvořáčková B; Prudková M; Stehlíková O; Šmída M; Křen L; Smejkal P; Pospíšilová Š; Doubek M
Int J Mol Sci; 2022 Jan; 23(2):. PubMed ID: 35055070
[TBL] [Abstract][Full Text] [Related]
9. Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations.
Savoia A; Pastore A; De Rocco D; Civaschi E; Di Stazio M; Bottega R; Melazzini F; Bozzi V; Pecci A; Magrin S; Balduini CL; Noris P
Haematologica; 2011 Mar; 96(3):417-23. PubMed ID: 21173099
[TBL] [Abstract][Full Text] [Related]
10. Genetic abnormalities of Bernard-Soulier syndrome.
Kunishima S; Kamiya T; Saito H
Int J Hematol; 2002 Nov; 76(4):319-27. PubMed ID: 12463594
[TBL] [Abstract][Full Text] [Related]
11. Bernard-Soulier syndrome caused by a hemizygous GPIbβ mutation and 22q11.2 deletion.
Kunishima S; Imai T; Kobayashi R; Kato M; Ogawa S; Saito H
Pediatr Int; 2013 Aug; 55(4):434-7. PubMed ID: 23566026
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. A novel missense mutation shows that GPIbbeta has a dual role in controlling the processing and stability of the platelet GPIb-IX adhesion receptor.
Strassel C; Pasquet JM; Alessi MC; Juhan-Vague I; Chambost H; Combrié R; Nurden P; Bas MJ; De La Salle C; Cazenave JP; Lanza F; Nurden AT
Biochemistry; 2003 Apr; 42(15):4452-62. PubMed ID: 12693941
[TBL] [Abstract][Full Text] [Related]
16. Novel nonsense mutation in the platelet glycoprotein Ibbeta gene associated with Bernard-Soulier syndrome.
Kunishima S; Matsushita T; Ito T; Kamiya T; Saito H
Am J Hematol; 2002 Dec; 71(4):279-84. PubMed ID: 12447957
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Platelets with a W127X mutation in GPIX express sufficient residual amounts of GPIbα to support adhesion to von Willebrand factor and collagen.
Takata Y; Kanaji T; Moroi M; Seki R; Sano M; Nakazato S; Sueoka E; Imamura Y; Okamura T
Int J Hematol; 2012 Dec; 96(6):733-42. PubMed ID: 23143686
[TBL] [Abstract][Full Text] [Related]
20. Novel Bernard-Soulier syndrome variants caused by compound heterozygous mutations (case I) or a cytoplasmic tail truncation (case II) of GPIbα.
Yamamoto N; Akamatsu N; Sakuraba H; Matsuno K; Hosoya R; Nogami H; Kasahara K; Mitsuyama S; Arai M
Thromb Res; 2013 Apr; 131(4):e160-7. PubMed ID: 23414566
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
