BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

441 related articles for article (PubMed ID: 16978236)

  • 21. 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]  

  • 22. 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]  

  • 23. 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]  

  • 24. Identification of a novel 14-3-3zeta binding site within the cytoplasmic domain of platelet glycoprotein Ibalpha that plays a key role in regulating the von Willebrand factor binding function of glycoprotein Ib-IX.
    Yuan Y; Zhang W; Yan R; Liao Y; Zhao L; Ruan C; Du X; Dai K
    Circ Res; 2009 Dec; 105(12):1177-85. PubMed ID: 19875727
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Naturally occurring mutations in glycoprotein Ibalpha that result in defective ligand binding and synthesis of a truncated protein.
    Kenny D; Jónsson OG; Morateck PA; Montgomery RR
    Blood; 1998 Jul; 92(1):175-83. PubMed ID: 9639514
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. 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]  

  • 28. 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]  

  • 29. 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]  

  • 30. Novel mutation in the glycoprotein Ibβ in a patient with Bernard-Soulier syndrome: possibility of distant parental consanguinity.
    Mahfouz RA; Bolz HJ; Otrock ZK; Bergmann C; Muwakkit S
    Blood Coagul Fibrinolysis; 2012 Jun; 23(4):335-7. PubMed ID: 22343686
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome.
    Ludlow LB; Schick BP; Budarf ML; Driscoll DA; Zackai EH; Cohen A; Konkle BA
    J Biol Chem; 1996 Sep; 271(36):22076-80. PubMed ID: 8703016
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. A common ancestral glycoprotein (GP) 9 1828A>G (Asn45Ser) gene mutation occurring in European families from Australia and Northern Europe with Bernard-Soulier Syndrome (BSS).
    Liang HP; Morel-Kopp MC; Clemetson JM; Clemetson KJ; Kekomaki R; Kroll H; Michaelides K; Tuddenham EG; Vanhoorelbeke K; Ward CM
    Thromb Haemost; 2005 Sep; 94(3):599-605. PubMed ID: 16268478
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Identification of a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein Ib alpha causing Bernard-Soulier syndrome.
    Simsek S; Admiraal LG; Modderman PW; van der Schoot CE; von dem Borne AE
    Thromb Haemost; 1994 Sep; 72(3):444-9. PubMed ID: 7855797
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. A large Swiss family with Bernard-Soulier syndrome - Correlation phenotype and genotype.
    Zieger B; Jenny A; Tsakiris DA; Bartsch I; Sandrock K; Schubart C; Schäfer S; Busse A; Wuillemin WA
    Hamostaseologie; 2009 May; 29(2):161-7. PubMed ID: 19404517
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. 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]  

  • 40. A novel monoclonal antibody against the extracellular domain of GPIbbeta modulates vWF mediated platelet adhesion.
    Perrault C; Moog S; Rubinstein E; Santer M; Baas MJ; de la Salle C; Ravanat C; Dambach J; Freund M; Santoso S; Cazenave JP; Lanza F
    Thromb Haemost; 2001 Nov; 86(5):1238-48. PubMed ID: 11816713
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 23.