MeSH Review:
Bernard-Soulier Syndrome
- Heparin-induced thrombocytopenia: laboratory studies. Kelton, J.G., Sheridan, D., Santos, A., Smith, J., Steeves, K., Smith, C., Brown, C., Murphy, W.G. Blood (1988)
- Ultrastructural analysis of megakaryocytes in GPV knockout mice. Poujol, C., Ramakrishnan, V., DeGuzman, F., Nurden, A.T., Phillips, D.R., Nurden, P. Thromb. Haemost. (2000)
- Congenital disorders of platelet function: disorders of signal transduction and secretion. Rao, A.K. Am. J. Med. Sci. (1998)
- Coincidence of familial platelet glycoprotein Ib/IX deficiency (Bernard-Soulier syndrome), idiopathic autoantibody against platelet glycoprotein Ib/IX, familial appearance of antiphospholipid antibodies, and familial factor XII deficiency. Korte, W., Baumgartner, C., Feldges, A., Knöpfl, C., Lutz, S., Lenz, A., Riesen, W., Schmid, L. Ann. Hematol. (1994)
- Use of DDAVP in inherited and acquired platelet dysfunction. DiMichele, D.M., Hathaway, W.E. Am. J. Hematol. (1990)
- Human blood platelets showing no response to collagen fail to express surface glycoprotein Ia. Nieuwenhuis, H.K., Akkerman, J.W., Houdijk, W.P., Sixma, J.J. Nature (1985)
- Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome. Ware, J., Russell, S.R., Marchese, P., Murata, M., Mazzucato, M., De Marco, L., Ruggeri, Z.M. J. Clin. Invest. (1993)
- Increased thrombin responsiveness in platelets from mice lacking glycoprotein V. Ramakrishnan, V., Reeves, P.S., DeGuzman, F., Deshpande, U., Ministri-Madrid, K., DuBridge, R.B., Phillips, D.R. Proc. Natl. Acad. Sci. U.S.A. (1999)
- Human platelet glycoprotein V: characterization of the polypeptide and the related Ib-V-IX receptor system of adhesive, leucine-rich glycoproteins. Hickey, M.J., Hagen, F.S., Yagi, M., Roth, G.J. Proc. Natl. Acad. Sci. U.S.A. (1993)
- Variant Bernard-Soulier syndrome type bolzano. A congenital bleeding disorder due to a structural and functional abnormality of the platelet glycoprotein Ib-IX complex. De Marco, L., Mazzucato, M., Fabris, F., De Roia, D., Coser, P., Girolami, A., Vicente, V., Ruggeri, Z.M. J. Clin. Invest. (1990)
- A murine antiglycoprotein Ib complex monoclonal antibody, SZ 2, inhibits platelet aggregation induced by both ristocetin and collagen. Ruan, C.G., Du, X.P., Xi, X.D., Castaldi, P.A., Berndt, M.C. Blood (1987)
- Platelet membrane studies in the May-Hegglin anomaly. Coller, B.S., Zarrabi, M.H. Blood (1981)
- Cyclic AMP-dependent phosphorylation of glycoprotein Ib inhibits collagen-induced polymerization of actin in platelets. Fox, J.E., Berndt, M.C. J. Biol. Chem. (1989)
- Adhesion receptor activation of phosphatidylinositol 3-kinase. von Willebrand factor stimulates the cytoskeletal association and activation of phosphatidylinositol 3-kinase and pp60c-src in human platelets. Jackson, S.P., Schoenwaelder, S.M., Yuan, Y., Rabinowitz, I., Salem, H.H., Mitchell, C.A. J. Biol. Chem. (1994)
- Generation and rescue of a murine model of platelet dysfunction: the Bernard-Soulier syndrome. Ware, J., Russell, S., Ruggeri, Z.M. Proc. Natl. Acad. Sci. U.S.A. (2000)
- Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome. Ludlow, L.B., Schick, B.P., Budarf, M.L., Driscoll, D.A., Zackai, E.H., Cohen, A., Konkle, B.A. J. Biol. Chem. (1996)
- DDAVP shortens bleeding time in Bernard-Soulier syndrome. Kemahli, S., Canatan, D., Uysal, Z., Akar, N., Cin, S., Arcasoy, A. Thromb. Haemost. (1994)
- 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, L.G., Modderman, P.W., van der Schoot, C.E., von dem Borne, A.E. Thromb. Haemost. (1994)
- Alpha-granule membrane mirrors the platelet plasma membrane and contains the glycoproteins Ib, IX, and V. Berger, G., Massé, J.M., Cramer, E.M. Blood (1996)
- The phosphoprotein that regulates platelet Ca2+ transport is located on the plasma membrane, controls membrane-associated Ca2(+)-ATPase and is not glycoprotein Ib beta-subunit. Darnanville, A., Bredoux, R., Clemetson, K.J., Kieffer, N., Bourdeau, N., Levy-Toledano, S., Caen, J.P., Enouf, J. Biochem. J. (1991)
- Monoclonal antibodies to the glycoprotein IIb-IIIa epitopes involved in adhesive protein binding: effects on platelet spreading and ultrastructure on human arterial subendothelium. Lawrence, J.B., Gralnick, H.R. J. Lab. Clin. Med. (1987)
- The cysteine knot of platelet glycoprotein Ib beta (GPIb beta) is critical for the interaction of GPIb beta with GPIX. Kenny, D., Morateck, P.A., Montgomery, R.R. Blood (2002)
- Macrothrombocytopenia with abnormal demarcation membranes in megakaryocytes and neutropenia with a complete lack of sialyl-Lewis-X antigen in leukocytes--a new syndrome? Willig, T.B., Breton-Gorius, J., Elbim, C., Mignotte, V., Kaplan, C., Mollicone, R., Pasquier, C., Filipe, A., Miélot, F., Cartron, J.P., Gougerot-Pocidalo, M.A., Debili, N., Guichard, J., Dommergues, J.P., Mohandas, N., Tchernia, G. Blood (2001)
- Platelet GPIb-V-IX complex. Structure, function, physiology, and pathology. Clemetson, K.J., Clemetson, J.M. Semin. Thromb. Hemost. (1995)
- Cloning and characterization of the gene encoding the human platelet glycoprotein V. A member of the leucine-rich glycoprotein family cleaved during thrombin-induced platelet activation. Lanza, F., Morales, M., de La Salle, C., Cazenave, J.P., Clemetson, K.J., Shimomura, T., Phillips, D.R. J. Biol. Chem. (1993)
- A dinucleotide deletion in exon 4 of the PlA2 allelic form of glycoprotein IIIa: implications for the correlation of serologic versus genotypic analysis of human platelet alloantigens. Skogen, B., Wang, R., McFarland, J.G., Newman, P.J. Blood (1996)
- On the retraction of collagen and fibrin induced by normal, defective and modified platelets. Jelenska, M., Kopeć, M., Breddin, K. Haemostasis (1985)
- Hematopoietic stem-cell transplantation for the Bernard-Soulier syndrome. Locatelli, F., Rossi, G., Balduini, C. Ann. Intern. Med. (2003)