Papers

 
 

Publications

2014

Othman M, Emsley J. Platelet-type von Willebrand disease: toward an improved understanding of the “sticky situation”. Semin Thromb Hemost. 2014 Mar;40(2):146-50.

Woods AI, Sanchez-Luceros A, Bermejo E, Paiva J, Alberto MF, Grosso SH, Kempfer AC, Lazzari MA. Identification of p.W246L As a Novel Mutation in the GP1BA Gene Responsible for Platelet-Type von Willebrand Disease. Semin Thromb Hemost. 2014 Mar;40(2):151-60.

2013

Othman M, Kaur H, Emsley J. Platelet-type von Willebrand disease: new insights into the molecular pathophysiology of a unique platelet defect. Semin Thromb Hemost. 2013 Sep;39(6):663-73

Grover N, Boama V, Chou MR. Pseudo (platelet-type) von Willebrand disease in pregnancy: a case report. BMC Pregnancy Childbirth 2013; 13: 16

2012

Enayat S, Ravanbod S, Rassoulzadegan M, Jazebi M, AlaF, Emsley J, Othman M. A novel D235Y mutation in the GP1BA gene enhances platelet interaction with von Willebrand factor in an Iranian family with platelet-type von Willebrand disease. Thromb Haemost 2012; 108(5):946-54.

2011

Othman M. Platelet-type von Willebrand disease: a rare, often misdiagnosed and underdiagnosed bleeding disorder. Semin Thromb Hemost. 2011 Jul;37(5):464-9.

Othman M, Lopez JA, Ware J. Platelet-type von Willebrand disease update: the disease, the molecule and the animal model. Expert Rev Hematol. Editorial 2011 Oct;4(5):475-7.

O’Connor D, Lester W, Willoughby S, Wilde JT. Pregnancy in platelet-type VWD: a case series. Thromb Haemost. 2011 Aug;106(2):386-7.

Othman M. Platelet-type Von Willebrand disease: three decades in the life of a rare bleeding disorder. Blood Rev. 2011 Jul;25(4):147-53.

Hamilton A, Ozelo M, Leggo J, Notley C, Brown H, Frontroth JP, Angelillo-Scherrer A, Baghaei F, Enayat SM, Favaloro E, Lillicrap D, Othman M. Frequency of platelet type versus type 2B von Willebrand disease. An international registry-based study. Thromb Haemost. 2011 Mar;105(3):501-8. Epub 2011 Feb 8.

2010

Frontroth JP, Hepner M, Sciuccati G, Feliú Torres A, Pieroni G, Bonduel M. Prospective study of low-dose ristocetin-induced platelet aggregation to identify type 2B von Willebrand disease (VWD) and platelet-type VWD in children.Thromb Haemost. 2010 Dec;104(6):1158-65. Epub 2010 Oct 12.

Othman M, Hamilton A. Platelet-type von Willebrand disease: results of a worldwide survey from the Canadian PT-VWD project. Acta Haematol. 2010;123(2):126-8. Epub 2010 Jan 16. No abstract available.

Giannini S, Cecchetti L, Mezzasoma AM, Gresele P.Diagnosis of platelet-type von Willebrand disease by flow cytometry.Haematologica. 2010 Jun;95(6):1021-4. Epub 2009 Nov 30.

2009

Guerrero JA, Kyei M, Russell S, Liu J, Gartner TK, Storrie B, Ware J.Visualizing the von Willebrand factor/glycoprotein Ib-IX axis with a platelet-type von Willebrand disease mutation. Blood. 2009 Dec 24;114(27):5541-6. Epub 2009 Oct 6.

2008

Othman M.Differential identification of PT-VWD from type 2B VWD and GP1BA nomenclature issues. Br J Haematol. 2008 Jun;142(2):312-4; author reply 314-5. Epub 2008 May 19. No abstract available.

Favaloro EJ.Phenotypic identification of platelet-type von Willebrand disease and its discrimination from type 2B von Willebrand disease: a question of 2B or not 2B? A story of nonidentical twins? Or two sides of a multidenominational or multifaceted primary-hemostasis coin?Semin Thromb Hemost. 2008 Feb;34(1):113-27. Review.

Franchini M, Montagnana M, Lippi G.Clinical, laboratory and therapeutic aspects of platelet-type von Willebrand disease. Int J Lab Hematol. 2008 Apr;30(2):91-4. Review.

2007

Othman M.Platelet-type von Willebrand disease and type 2B von Willebrand disease: a story of nonidentical twins when two different genetic abnormalities evolve into similar phenotypes. Semin Thromb Hemost. 2007 Nov;33(8):780-6. Review.

Othman M. Platelet-Type von Willebrand Disease and Type 2B von Willebrand Disease: A Story of Nonidentical Twins when Two Different Genetic Abnormalities Evolve into Similar Phenotypes. Seminars in Thrombosis and Hemostasis 2007; 33, 780-786.

Luo SZ, Mo X, Afshar-Kharghan V, Srinivasan S, López JA, Li R Glycoprotein Ib forms disulfide bonds with 2 glycoprotein Ibß subunits in the resting platelet. Blood 2007;109: 603-609.

Clemetson KJ. A short history of platelet glycoprotein Ib complex. Thromb Haemost 2007; 98:63-68

Othman and Lillicrap. Distinguishing between non-identical twins: platelet type and type 2B von Willebrand disease. British Journal of Haematology 2007 138; 665–666.

Whalley, I.N., Perry, D. J. 2B or not 2B? Differential identification of Type 2B, versus pseudo-,von Willebrand disease. British Journal of Haematology 2007; 136: 345

Favaloro, E.J. 2B or not 2B? Differential identification of type 2B, versus pseudo-, von Willebrand disease – response to Whalley and Perry. British Journal of Haematology 2007;136: 345-349

Nurden P, Lanza F, Bonnafous-Faurie C, Nurden A. A second report of platelet-type von Willebrand disease with a Gly233Ser mutation in the GPIBA gene. Thromb Haemost. 2007;97:319-321.

Favaloro EJ, Patterson D, Denholm A, Mead S, Gilbert A, Collins A, Estell J, George PM, Smith MP. Differential identification of a rare form of platelet-type (pseudo-) von Willebrand disease (VWD) from Type 2B VWD using a simplified ristocetin-induced-platelet-agglutination mixing assay and confirmed by genetic analysis. British Journal of Haematology 2007 ;139:623-626.

ISTH standardization subcommittee SSC on von Willebrand factor. July 2007 Geneva. Minutes.

2006

Enayat, M.S., Guilliatt, A.M., Lester, W., Wilde, J.T., Williams,M.D., Hill, F.G. Distinguishing between type 2B and pseudo-von Willebrand disease and its clinical importance. British Journal of Haematology 2006; 133:664 -666.

Favaloro EU . 2B or not 2B? Differential identification of type 2B, versus pseudo-von Willebrand disease. British Journal of Haematology 2006;135:141-142

Federici AB. Impaired megakaryocytopoiesis in type 2B von Willebrand disease. Inside Blood. Blood 2006; 108, 2498

Sadler JE, Budde U, Eikenboom JC, Favaloro EJ, Hill FG, Holmberg L, Ingerslev J, Lee CA, Lillicrap D, Mannucci PM, Mazurier C, Meyer D, Nichols WL, Nishino M, Peake IR, Rodeghiero F, Schneppenheim R, Ruggeri ZM, Srivastava A, Montgomery RR, Federici AB; Working Party on von Willebrand Disease Classification. Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. J Thromb Haemost. 2006; 2103-21014.

Guermazi S, Conard J, Samama MM, Dellagi K. Type 2B and pseudo type 2B Von Willebrand disease; a report of three cases. Pathol Biol. 2006 ; 54:159-165.

2005

Othman M, Notley C, Lavender FL, White HE, Byrne CD, Lillicrap D and O’Shaughnessy DF: Identification and functional characterisation of a novel 27bp deletion in the macroglycopeptide-coding region of the GPIb alpha gene resulting in platelet-type von Willebrand Disease. Blood 2005; 105:4330-4336

Chen J, López JA. The mysteries of a platelet adhesion receptor. Blood 2005; 105, 4154-4155.

2004

Weiss HJ. Type 2B von Willebrand disease and related disorders of patients with increased ristocetin induced platelet aggregation:what they tell us about the role of von Willebrand factor in hemostasis, 2004;2055-2060

2003

Matsubara Y, Murata M, Sugita K, Ikeda Y. Identification of a novel point mutation in platelet glycoprotein Ibalpha, Gly to Ser at residue 233, in a Japanese family with platelet-type von Willebrand disease. J Thromb Haemost. 2003; 2198-2205.

Andrews RK, Gardiner EE, Shen Y, Whisstock JC, Berndt MC. Glycoprotein Ib-IX-V. Int J Biochem Cell Biol. 2003;35:1170-1174.

2002

Uff S, Clemetson JM, Harrison T, Clemetson KJ, Emsley J. Crystal structure of the platelet glycoprotein Ib(alpha) N-terminal domain reveals an unmasking mechanism for receptor activation. J Biol Chem. 2002;277:35657-35663.

Huizinga EG, Tsuji S, Romijn RA, Schiphorst ME, de Groot PG, Sixma JJ, Gros P. Structures of glycoprotein Ib alpha and its complex with von Willebrand factor A1 domain. Science 2002;297:1167-1179

1999

Favaloro EJ: Laboratory assessment as a critical component of the appropriate diagnosis and sub-classification of von Willebrand disease. Blood Reviews 1999; 13:185-204

1997

Moriki T, Murata M, Kitaguchi T, Anbo H, Handa M, Watanabe K, Takahashi H, Ikeda Y: Expression and functional characterisation of an abnormal platelet membrane glycoprotein Ib  (Met 239Val) reported in patients with platelet-type von Willebrand disease. Blood 1997;698-705

Lopez JA, Dong JF . Structure and function of the glycoprotein Ib-IX-V complex. Curr Opin Hematol. 1997;4:323-329.

Review.

Kunishima S, Heaton DC, Naoe T, Hickton C, Mizuno S, Saito H, Kamiya T. De novo mutation of the platelet glycoprotein Ib alpha gene in a patient with pseudo-von Willebrand disease. Blood Coagul Fibrinolysis 1997; 8:311-315.

1996

Miller JL: Platelet-type von Willebrand disease. Thromb Haemost 1996; 865-869

1995

Takahashi H, Murata M, Moriki T, Anbo H, Furukawa T Nikkuni K, Shibata A, Handa M, Kawai Y, Watanabe K, Ikeda Y: Substitution of Val for Met at residue 239 of platelet glycoprotein Ib  in Japanese patients with platelet-type von Willebrand disease. Blood 1995;3727-3733

1993

Russell, SD, Roth, GJ: von Willebrand disease: A mutation in the platelet glycoprotein Ib  gene associated with a hyperactive surface receptor. Blood 1993;1787-1791

Murata M, Russell SR, Ruggeri ZM, Ware J: Expression of the phenotypic abnormality of platelet- type von Willebrand disease in a recombinant glycoprotein Ib  fragment. J Clin Invest 1993; 2133-2137

1992

López JA, Ludwig EH, McCarthy BJ. Polymorphism of human glycoprotein Ib alpha results from a variable number of tandem repeats of a 13-amino acid sequence in the mucin-like macroglycopeptide region. Structure/function implications. J Biol Chem. 1992;267:10055-10061

1991

Murata M, Ware J and Ruggeri ZM: Site directed mutagenesis of a soluble recombinant fragment of platelet glycoprotein Ib  demonstrating negatively charged residues involved in von Willebrand factor binding. J Biol Chem 1991;15474-15480

Miller JL, Cunningham D, Lyle VA, Finch CN. Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease. Proc Natl Acad Sci U S A. 1991; 88: 4761–4765.

Miller JL: Sorting out heightened interactions between platelets and von Willebrand factor: “IIB or not IIB?” is becoming an increasingly answerable question in the molecular era. Am J Clin Path 1991; 681-683

1990

Vicente V, Houghten RA, Ruggeri ZM: Identification of a site in the alpha chain of platelet glycoprotein Ib that participates in von Willebrand factor binding. J Biol Chem 1990; 265:274-280

1987

Lopez JA, Chung DW, Fujikawa K, Hagen FS, Papayannopoulou T, Roth GJ: Cloning of the alpha chain of human platelet glycoprotein Ib: a transmemberane protein with homology to leucin-rich alpha 2- glycoprotein. Proc Natl Acad Sci USA 1987; 5615-5619

1986

Weiss HJ, Sussman II.A new von Willebrand variant (type I, New York): increased ristocetin-induced platelet aggregation and plasma von Willebrand factor containing the full range of multimers. Blood. 1986;68:149-156.

Holmberg L, Berntorp E, Donner M, Nilsson IM. von Willebrand’s disease characterized by increased ristocetin sensitivity and the presence of all von Willebrand factor multimers in plasma. Blood 1986;68:668-672

1983

Miller JL, Kupinski JM, Castella A, Ruggeri ZM: von Willebrand factor binds to platelets and induces aggregation in platelet-type but not type IIB von Willebrand disease. J Clin Invest 1983; 1532-1542

1982

Miller JL, Castella A. Platelet-type von Willebrand’s disease: characterization of a new bleeding disorder. Blood. 1982;60:790–794.

Weiss HJ, Meyer D, Rabinowitz R, Pietu JP, Vicic WJ and Rogers J: Pseudo-von Willebrand’s disease: An intrinsic platelet defect with aggregation by unmodified human factor VIII/von Willebrand factor and enhanced absorption of its high-molecular-weight multimers. N Engl J Med 1982; 326-332.

1981

Takahashi H, Nagayama R, Hattori A, Ihzumi T, Tsukada T, Shibata A: von Willebrand disease associated with familial thrombocytopenia and increased ristocetin-­induced platelet aggregation. Am J Hematol 10(1): 89­-99, 1981.