BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

241 related articles for article (PubMed ID: 12447957)

  • 1. 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]  

  • 2. Homozygous Pro74-->Arg mutation in the platelet glycoprotein Ibbeta gene associated with Bernard-Soulier syndrome.
    Kunishima S; Tomiyama Y; Honda S; Fukunishi M; Hara J; Inoue C; Kamiya T; Saito H
    Thromb Haemost; 2000 Jul; 84(1):112-7. PubMed ID: 10928480
    [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. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Compound heterozygosity of the GPIbalpha gene associated with Bernard-Soulier syndrome.
    González-Manchón C; Larrucea S; Pastor AL; Butta N; Arias-Salgado EG; Ayuso MS; Parrilla R
    Thromb Haemost; 2001 Dec; 86(6):1385-91. PubMed ID: 11776304
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome.
    Drouin J; Carson NL; Laneuville O
    Am J Hematol; 2005 Jan; 78(1):41-8. PubMed ID: 15609295
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 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. 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]  

  • 19. 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]  

  • 20. The same genetic defect in three Tunisian families with Bernard Soulier syndrome: a probable founder Stop mutation in GPIbβ.
    HadjKacem B; Elleuch H; Trigui R; Gargouri J; Gargouri AF
    Ann Hematol; 2010 Jan; 89(1):75-81. PubMed ID: 19484238
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.