Ir al menú de navegación principal Ir al contenido principal Ir al pie de página del sitio

Trastornos plaquetarios primarios en la especie humana: Aspectos biomédicos: biología, patobiología y bioclínica

Primary platelet disorders in the human species: Biomedical aspects: biology, pathobiology and bioclínica



Abrir | Descargar


Sección
Artículo de revisión

Cómo citar
García Morán, G. A., Ruiz, M., Clavijo Grimaldi, D., Mejía, O. R., García Cardona, A., Casadiego Torrado, C. A., Hernández Vela, S., Vittorino, M., & Cobos, C. (2007). Trastornos plaquetarios primarios en la especie humana: Aspectos biomédicos: biología, patobiología y bioclínica. Revista Repertorio De Medicina Y Cirugía, 16(3), 120-142. https://doi.org/10.31260/RepertMedCir.v16.n3.2007.469

Dimensions
PlumX
Licencia

Creative Commons License

Esta obra está bajo una licencia internacional Creative Commons Atribución-NoComercial-CompartirIgual 4.0.

Ggregory Alfonso García Morán
    Miguel Ruiz
      Dianney Clavijo Grimaldi
        Omar Ramón Mejía
          Ananías García Cardona
            Ciro Alfonso Casadiego Torrado
              Sergio Hernández Vela
                Mario Vittorino
                  Claudia Cobos

                    Las enfermedades genéticas plaquetarias son desórdenes heterogéneos, algunos de ellos muy raros, que se presentan en la medicina clínica, caracterizados por trobocitopenia, plaquetas grandes (macrotrombocitopenias) y signos variables de hemorragia, así como trombosis en otros casos. La patogénesis y patofisiología es bastante desconocida y el propósito de este artículo es proveer una estructura lógica que resuma el conocimiento actual. Abreviaturas: PQ, plaquetas.


                    Visitas del artículo 297 | Visitas PDF 1501


                    Descargas

                    Los datos de descarga todavía no están disponibles.

                    1. Pubmed [base de datos en Internet]. National Library of Medicine. c1998. [actualizado 17 Jan 2006; citado 6 Jan 2007] Disponible en: http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed

                    2. Scriver CR, Beaudet AL, Sly WS, et al. The metabolic and molecular bases of inherited disease. 7th ed. New York: McGraw-Hill; 2001.

                    3. Loscalzo J, Schafer AI. Thrombosis and hemorrhage. 3rd ed. New York: Lippincott-Raven Press; 2002.

                    4. Jurk K, Kehrel BE. Platelets: physiology and biochemistry. Semin Thromb Hemost. 2005;31(4):381-92.

                    5. Delmas Y, Viallard JF, Villeneuve J, Grosset C, Pasquet JM, Déchanet-Merville J, Nurden P, Pellegrin JL, Rosenbaum J, Combe C, Nurden AT, Ripoche J. [Platelet-associated CD154: a new interface in haemostasis and in the inflammatory reaction] Med Sci (Paris). 2005 Oct;21(10):825- 31.

                    6. Danese S, Fiocchi C. Platelet activation and the CD40/ CD40 ligand pathway: mechanisms and implications for human disease. Crit Rev Immunol. 2005;25(2):103-21.

                    7. Davì G, Ferroni P. CD40-CD40L interactions in platelet activation. Thromb Haemost. 2005 Jun;93(6):1011-2.

                    8. Croce K, Libby P. Intertwining of thrombosis and inflammation in atherosclerosis. Curr Opin Hematol. 2007 Jan;14(1):55-61.

                    9. Moseley GW. Tetraspanin-Fc receptor interactions. Platelets. 2005 Feb;16(1):3-12.

                    10. Testi R, Pulcinelli FM, Cifone MG, Botti D, Del Grosso E, Riondino S, Frati L, Gazzaniga PP, Santoni A. Preferential involvement of a phospholipase A2-dependent pathway in CD69-mediated platelet activation. J Immunol. 1992 May 1;148(9):2867-71.

                    11. Richmond B, Huizing M, Knapp J, Koshoffer A, Zhao Y, Gahl WA, Boissy RE. Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking. J Invest Dermatol. 2005 Feb;124(2):420-7.

                    12. Yurchenko V, Constant S, Bukrinsky M. Dealing with the family: CD147 interactions with cyclophilins. Immunology. 2006 Mar;117(3):301-9.

                    13. Gachet C. Regulation of platelet functions by P2 receptors. Annu Rev Pharmacol Toxicol. 2006;46:277-300.

                    14. Oury C, Toth-Zsamboki E, Vermylen J, Hoylaerts MF. The platelet ATP and ADP receptors. Curr Pharm Des. 2006;12(7):859-75.

                    15. Lemmon MA. Pleckstrin homology domains: not just for phosphoinositides.Biochem Soc Trans 2004;32(5):707-11.

                    16. Tziros C, Freedman JE. The many antithrombotic actions of nitric oxide. Curr Drug Targets. 2006 Oct;7(10):1243-51.

                    17. Marcus AJ, Broekman MJ, Drosopoulos JH, Olson KE, Islam N, Pinsky DJ, Levi R. Role of CD39 (NTPDase-1) in thromboregulation, cerebroprotection, and cardioprotection Semin Thromb Hemost. 2005 Apr;31(2):234-46.

                    18. Hollenberg MD, Houle S. Proteinases as hormone-like signal messengers. Swiss Med Wkly. 2005 Jul 23;135(29- 30):425-32.

                    19. Lundblad RL, White GC 2nd. The interaction of thrombin with blood platelets. Platelets. 2005 Nov;16(7):373-85.

                    20. Leger AJ, Covic L, Kuliopulos A. Protease-activated receptors in cardiovascular diseases. Circulation. 2006 Sep 5;114(10):1070-7.

                    21. Slungaard A. Platelet factor 4: a chemokine enigma. Int J Biochem Cell Biol. 2005 Jun;37(6):1162-7.

                    22. Morel O, Toti F, Hugel B, Bakouboula B, Camoin-Jau L, Dignat-George F, Freyssinet JM. Procoagulant microparticles: disrupting the vascular homeostasis equation? Arterioscler Thromb Vasc Biol. 2006 Dec;26(12):2594-604.

                    23. Discepolo W, Wun T, Berglund L. Lipoprotein(a) and thrombocytes: potential mechanisms underlying cardiovascular risk. Pathophysiol Haemost Thromb. 2006;35(3-4):314-21.

                    24. Korporaal SJ, Akkerman JW. Lipoprotein-associated proteins involved in platelet signaling. Pathophysiol Haemost Thromb. 2006;35(3-4):305-13.

                    25. Korporaal SJ, Akkerman JW. Platelet activation by low density lipoprotein and high density lipoprotein. Pathophysiol Haemost Thromb. 2006;35(3-4):270-80.

                    26. Olufadi R, Byrne CD. Effects of VLDL and remnant particles on platelets. Pathophysiol Haemost Thromb. 2006;35(3-4):281-91.

                    27. Siess W. Platelet interaction with bioactive lipids formed by mild oxidation of low-density lipoprotein. Pathophysiol Haemost Thromb. 2006;35(3-4):292-304.

                    28. Morera AL, Abreu P. Existence of melatonin in human platelets. J Pineal Res. 2005 Nov;39(4):432-3.

                    29. Di Bella L, Gualano L. Key aspects of melatonin physiology: thirty years of research. Neuro Endocrinol Lett. 2006 Aug;27(4):425-32.

                    30. Wallaschofski H, Kobsar A, Sokolova O, Eigenthaler M, Lohmann T. Co-activation of platelets by prolactin or leptin--pathophysiological findings and clinical implications. Horm Metab Res. 2004 Jan;36(1):1-6.

                    31. Pietrapiana D, Sala M, Prat M, Sinigaglia F. Met identification on human platelets: role of hepatocyte growth factor in the modulation of platelet activation. FEBS Lett. 2005 Aug 15;579(20):4550-4.

                    32. Akkerman JW. Thrombopoietin and platelet function. Semin Thromb Hemost. 2006 Apr;32(3):295-304.

                    33. Chrysant SG, Chrysant GS. The pleiotropic effects of angiotensin receptor blockers. J Clin Hypertens (Greenwich). 2006 Apr;8(4):261-8.

                    34. Deutsch VR, Tomer A. Megakaryocyte development and platelet production. Br J Haematol. 2006 Sep;134(5):453-66.

                    35. Essex DW, Li M. Redox modification of platelet glycoproteins. Curr Drug Targets. 2006 Oct;7(10):1233-41.

                    36. lduini CL, Savoia A. Inherited thrombocytopenias: molecular mechanisms. Semin Thromb Hemost. 2004 Oct;30(5):513-23.

                    37. Geddis AE. The molecular basis of congenital thrombocytopenias: insights into megakaryopoiesis. Hematology. 2005;10 Suppl 1:299-305.

                    38. Kaushansky K. The molecular mechanisms that control thrombopoiesis. J Clin Invest. 2005 Dec;115(12):3339-47.

                    39. Pang L, Weiss MJ, Poncz M. Megakaryocyte biology and related disorders. J Clin Invest. 2005 Dec;115(12):3332-8.

                    40. Patel SR, Hartwig JH, Italiano JE Jr. The biogenesis of platelets from megakaryocyte proplatelets. J Clin Invest. 2005 Dec;115(12):3348-54.

                    41. Schulze H, Shivdasani RA. Mechanisms of thrombopoiesis . J Thromb Haemost. 2005 Aug;3(8):1717-24.

                    42. Kirito K, Kaushansky K. Transcriptional regulation of megakaryopoiesis: thrombopoietin signaling and nuclear factors. Curr Opin Hematol. 2006 May;13(3):151-6.

                    43. Liu YS, Yang M. The effect of 5-hydroxtryptamine on the regulation of megakaryocytopoiesis. Hematology. 2006 Feb;11(1):53-6.

                    44. Sun L, Hwang WY, Aw SE. Biological characteristics of megakaryocytes: specific lineage commitment and associated disorders. Int J Biochem Cell Biol. 2006;38(11):1821-6.

                    45. Chen J, López JA. Interactions of platelets with subendothelium and endothelium. Microcirculation. 2005 Apr-May;12(3):235-46.

                    46. Clemetson KJ. Platelet receptors and their role in diseases. Clin Chem Lab Med. 2003 Mar;41(3):253-60.

                    47. Ware J. Dysfunctional platelet membrane receptors: from humans to mice.Thromb Vasc Biol 1999;19:2841-6.

                    48. Ramasamy I. Inherited bleeding disorders: disorders of platelet adhesion and aggregation. Crit Rev Oncol Hematol 2004;49:1-35.

                    49. Michiels JJ, Gadisseur A, Budde U, Berneman Z, van der Planken M, Schroyens W, van de Velde A, van Vliet H. Characterization, classification, and treatment of von Willebrand diseases: a critical appraisal of the literature and personal experiences. Semin Thromb Hemost. 2005 Nov;31(5):577-601.

                    50. Schneppenheim R. The evolving classification of von Willebrand disease. Blood Coagul Fibrinolysis. 2005 Apr;16 Suppl 1:S3-S10.

                    51. George JN. The role of ADAMTS13 in the pathogenesis of thrombotic thrombocytopenic purpura-hemolytic uremic syndrome. Clin Adv Hematol Oncol. 2005 Aug;3(8):627- 32.

                    52. Raife TJ, Friedman KD, Dwyre DM. The pathogenicity of von Willebrand factor in thrombotic thrombocytopenic purpura: reconsideration of treatment with cryopoor plasma. Transfusion. 2006 Jan;46(1):74-9.

                    53. Coppo P, Wolf M, Veyradier A, Bussel A, Malot S, Millot GA, Daubin C, Bordessoule D, Pène F, Mira JP, Heshmati F, Maury E, Guidet B, Boulanger E, Galicier L, Parquet N, Vernant JP, Rondeau E, Azoulay E, Schlemmer B; Réseau d'Etude des Microangiopathies Thrombotiques de l'Adulte. Prognostic value of inhibitory anti-ADAMTS13 antibodies in adult-acquired thrombotic thrombocytopenic purpura. Br J Haematol. 2006 Jan;132(1):66-74.

                    54. Kunishima S, Kamiya T, Saito H. Genetic abnormalities of Bernard-Soulier syndrome. Int J Hematol. 2002 Nov;76(4):319-27.

                    55. Ge Y, Elghetany MT. CD36: a multiligand molecule. Lab Hematol. 2005;11(1):31-7.

                    56. Moroi M, Jung SM. Platelet glycoprotein VI: its structure and function. Thromb Res. 2004;114(4):221-33.

                    57. Kasperska-Zajaç A, Rogala B. Platelet function in anaphylaxis. J Investig Allergol Clin Immunol. 2006;16(1):1- 4.

                    58. De Paepe A, Malfait F. Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders.Br J Haematol. 2004 Dec;127(5):491-500.

                    59. Cho J, Mosher DF. Role of fibronectin assembly in platelet thrombus formation. J Thromb Haemost. 2006 Jul;4(7):1461-9.

                    60. De Maat MP, Verschuur M. Fibrinogen heterogeneity: inherited and noninherited. Curr Opin Hematol. 2005 Sep;12(5):377-83.

                    61. Nair S, Ghosh K, Kulkarni B, Shetty S, Mohanty D. Glanzmann's thrombasthenia: updated. Platelets. 2002 Nov;13(7):387-93.

                    62. Bellucci S, Caen J. Molecular basis of Glanzmann’s Thrombasthenia and current strategies in treatment. Blood Rev. 2002 Sep;16(3):193-202.

                    63. Hirata T, Kakizuka A, Ushikubi F, Fuse I, Okuma M, Narumiya S. Arg60 to Leu mutation of the human thromboxane A2 receptor in a dominantly inherited bleeding disorder. J Clin Invest. 1994 Oct;94(4):1662-7.

                    64. Boeynaems JM, Communi D, Gonzalez NS, Robaye B. Overview of the P2 receptors. Semin Thromb Hemost. 2005 Apr;31(2):139-49.

                    65. Cattaneo M. The P2 receptors and congenital platelet function defects. Semin Thromb Hemost. 2005 Apr;31(2):168-73.

                    66. Yee DL, Bray PF. Clinical and functional consequences of platelet membrane glycoprotein polymorphisms. Semin Thromb Hemost. 2004 Oct;30(5):591-600.

                    67. Rozalski M, Boncler M, Luzak B, Watala C. Genetic factors underlying differential blood platelet sensitivity to inhibitors. Pharmacol Rep. 2005 Jan-Feb;57(1):1-13.

                    68. Hanjis C, Frishman WH, Lerner RG. Aspirin resistance: mechanisms and clinical implications. Cardiol Rev. 2006 Jan-Feb;14(1):18-25.

                    69. Hankey GJ, Eikelboom JW. Aspirin resistance. Lancet. 2006 Feb 18;367(9510):606-17.

                    70. Wang TH, Bhatt DL, Topol EJ. Aspirin and clopidogrel resistance: an emerging clinical entity. Eur Heart J. 2006 Mar;27(6):647-54.

                    71. Nurden AT. Qualitative disorders of platelets and megakaryocytes. J Thromb Haemost. 2005 Aug;3(8):1773-82.

                    72. Gunay-Aygun M, Huizing M, Gahl WA. Molecular defects that affect platelet dense granules. Semin Thromb Hemost. 2004 Oct;30(5):537-47.

                    73. Nurden AT, Nurden P. The gray platelet syndrome: clinical spectrum of the disease. Blood Rev. 2007 Jan;21(1):21- 36.

                    74. Prevost N, Woulfe D, Tognolini M, Brass LF. Contactdependent signaling during the late events of platelet activation. J Thromb Haemost. 2003 Jul;1(7):1613-27.

                    75. Jackson SP, Nesbitt WS, Kulkarni S. Signaling events underlying thrombus formation.J Thromb Haemost. 2003 Jul;1(7):1602-12.

                    76. Rao AK, Jalagadugula G, Sun L. Inherited defects in platelet signaling mechanisms. Semin Thromb Hemost. 2004 Oct;30(5):525-35.

                    77. Shankar H, Kahner B, Kunapuli SP. G-protein dependent platelet signaling--perspectives for therapy. Curr Drug Targets. 2006 Oct;7(10):1253-63.

                    78. Kahner BN, Shankar H, Murugappan S, Prasad GL, Kunapuli SP. Nucleotide receptor signaling in platelets. J Thromb Haemost. 2006 Nov;4(11):2317-26.

                    79. Sinzinger H, Kaliman J, O'Grady J. Platelet lipoxygenase defect (Wien-Penzing defect) in two patients with myocardial infarction. Am J Hematol. 1991 Mar;36(3):202-5.

                    80. Kubisz P, Ivankov J, Holly P, Stasko JN, Musiał J. The glycoprotein IIIa PL(A1/A2) polymorphism--a defect responsible for the sticky platelet syndrome? Clin Appl Thromb Hemost. 2006 Jan;12(1):117-9.

                    81. Holmsen H, Walsh PN, Koike K, Murphy S, Holme S, Johnson MM, Dangelmaier CA, Egan JJ, Benzel JE, Tuszynski GP. Familial bleeding disorder associated with deficiencies in platelet signal processing and glycoproteins. Br J Haematol. 1987 Nov;67(3):335-44.

                    82. Lages B, Weiss HJ. Impairment of phosphatidylinositol metabolism in a patient with a bleeding disorder associated with defects of initial platelet responses. Thromb Haemost. 1988 Apr 8;59(2):175-9.

                    83. Rao AK, Kowalska MA, Disa J. Impaired cytoplasmic ionized calcium mobilization in inherited platelet secretion defects. Blood. 1989 Aug 1;74(2):664-72.

                    84. Rao AK, Disa J, Yang X. Concomitant defect in internal release and influx of calcium in patients with congenital platelet dysfunction and impaired agonist-induced calcium mobilization. Thromboxane production is not required for internal release of calcium. J Lab Clin Med. 1993 Jan;121(1):52-63.

                    85. Cartwright IJ, Hampton KK, Macneil S, Colvin BT, Preston FE. A haemorrhagic platelet disorder associated with altered stimulus-response coupling and abnormal membrane phospholipid composition. Br J Haematol. 1994 Sep;88(1):129-36.

                    86. Yang X, Sun L, Ghosh S, Rao AK. Human platelet signaling defect characterized by impaired production of inositol1,4,5-triphosphate and phosphatidic acid and diminished Pleckstrin phosphorylation: evidence for defective phospholipase C activation. Blood. 1996 Sep 1;88(5):1676-83.

                    87. Lee SB, Rao AK, Lee KH, Yang X, Bae YS, Rhee SG. Decreased expression of phospholipase C-beta 2 isozyme in human platelets with impaired function. Blood. 1996 Sep 1;88(5):1684-91.

                    88. Yang X, Sun L, Gabbeta J, Rao AK. Platelet activation with combination of ionophore A23187 and a direct protein kinase C activator induces normal secretion in patients with impaired receptor mediated secretion and abnormal signal transduction. Thromb Res. 1997 Nov 1;88(3):317-28.

                    89. Gabbeta J, Yang X, Kowalska MA, Sun L, Dhanasekaran N, Rao AK. Platelet signal transduction defect with Galpha subunit dysfunction and diminished Galphaq in a patient with abnormal platelet responses. Proc Natl Acad Sci U S A. 1997 Aug 5;94(16):8750-5.

                    90. Mitsui T, Yokoyama S, Shimizu Y, Katsuura M, Akiba K, Hayasaka K. Defective signal transduction through the thromboxane A2 receptor in a patient with a mild bleeding disorder: deficiency of the inositol 1,4,5-triphosphate formation despite normal G-protein activation. Thromb Haemost. 1997 May;77(5):991-5.

                    91. Rao AK, Koike K, Willis J, Daniel JL, Beckett C, Hassel B, Day HJ, Smith JB, Holmsen H. Platelet secretion defect associated with impaired liberation of arachidonic acid and normal myosin light chain phosphorylation. Blood. 1984 Oct;64(4):914-21.

                    92. Lages B, Weiss HJ. Heterogeneous defects of platelet secretion and responses to weak agonists in patients with bleeding disorders. Br J Haematol. 1988 Jan;68(1):53- 62.

                    93. Ushikubi F, Ishibashi T, Narumiya S, Okuma M. Analysis of the defective signal transduction mechanism through the platelet thromboxane A2 receptor in a patient with polycythemia vera. Thromb Haemost. 1992 Jan 23;67(1):144-6.

                    94. Fuse I, Mito M, Hattori A, Higuchi W, Shibata A, Ushikubi F, Okuma M, Yahata K. Defective signal transduction induced by thromboxane A2 in a patient with a mild bleeding disorder: impaired phospholipase C activation despite normal phospholipase A2 activation.Blood. 1993 Feb 15;81(4):994-1000.

                    95. Fuse I, Hattori A, Mito M, Higuchi W, Yahata K, Shibata A, Aizawa Y. Pathogenetic analysis of five cases with a platelet disorder characterized by the absence of thromboxane A2 (TXA2)-induced platelet aggregation in spite of normal TXA2 binding activity. Thromb Haemost. 1996 Dec;76(6):1080-5.

                    96. Aslan D, Sari S, Derinöz O, Dalgiç B. Griscelli syndrome: description of a case with Rab27A mutation. Pediatr Hematol Oncol. 2006 Apr-May;23(3):255-61.

                    97. Wei ML. Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function. Pigment Cell Res. 2006 Feb;19(1):19-42.

                    98. Ward DM, Shiflett SL, Kaplan J. Chediak-Higashi syndrome: a clinical and molecular view of a rare lysosomal storage disorder. Curr Mol Med. 2002 Aug;2(5):469-77.

                    99. Orange JS, Stone KD, Turvey SE, et al. The Wiskott-Aldrich syndrome. Cell Mol Life Sci. 2004;(61):2361-85.

                    100.Notarangelo LD, Notarangelo LD, Ochs HD. WASP and the phenotypic range associated with deficiency. Curr Opin Allergy Clin Immunol. 2005 Dec;5(6):485-90.

                    101.Stormorken H, Holmsen H, Sund R, Sakariassen KS, Hovig T, Jellum E, Solum O. Studies on the haemostatic defect in a complicated syndrome. An inverse Scott syndrome platelet membrane abnormality? Thromb Haemost. 1995 Nov;74(5):1244-51.

                    102.Solum NO. Procoagulant expression in platelets and defects leading to clinical disorders. Arterioscler Thromb Vasc Biol. 1999 Dec;19(12):2841-6.

                    103.Albrecht C, McVey JH, Elliott JI, Sardini A, Kasza I, Mumford AD, Naoumova RP, Tuddenham EG, Szabo K, Higgins CF. A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome. Blood. 2005 Jul 15;106(2):542-9.

                    104.Takahashi K, Kimura Y, Nagata K, Yamamoto A, Matsuo M, Ueda K. ABC proteins: key molecules for lipid homeostasis.Med Mol Morphol. 2005 Mar;38(1):2-12.

                    105.Nofer JR, Remaley AT. Tangier disease: still more questions than answers. Cell Mol Life Sci. 2005 Oct;62(19-20):2150-60.

                    106.Puetz J, Fete T. Platelet function disorder in Gardner-Diamond syndrome: a case report and review of the literature. J Pediatr Hematol Oncol. 2005 Jun;27(6):323-5.

                    107.Izraeli S. Perspective: chromosomal aneuploidy in leukemia-lessons from down syndrome. Hematol Oncol. 2006 Mar;24(1):3-6.

                    108.White JG, Key NS, King RA, Vercellotti GM. A 'touch' of the White platelet syndrome. Platelets. 2005 Sep;16(6):346-61.

                    109.Mhawech P, Saleem A. Inherited giant platelet disorders. Classification and literature review. Am J Clin Pathol. 2000 Feb;113(2):176-90.

                    110.Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d'Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.Nat Genet. 2000 Sep;26(1):103-5.

                    111. Kelley MJ, Jawien W, Ortel TL, Korczak JF. Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. Nat Genet. 2000 Sep;26(1):106-8.

                    112.Heath KE, Campos-Barros A, Toren A, Rozenfeld-Granot G, Carlsson LE, Savige J, Denison JC, Gregory MC, White JG, Barker DF, Greinacher A, Epstein CJ, Glucksman MJ, Martignetti JA. Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. Am J Hum Genet. 2001 Nov;69(5):1033-45.

                    113.Savoia A, Balduini CL, Savino M, Noris P, Del Vecchio M, Perrotta S, Belletti S, Poggi , Iolascon A. Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. Blood. 2001 Mar 1;97(5):1330-5.

                    114.Dong F, Li S, Pujol-Moix N, Luban NL, Shin SW, Seo JH, Ruiz-Saez A, Demeter J, Langdon S, Kelley MJ. Genotypephenotype correlation in MYH9-related thrombocytopenia. Br J Haematol. 2005 Aug;130(4):620-7.

                    Sistema OJS 3.4.0.5 - Metabiblioteca |