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MeSH Review

Platelet Storage Pool Deficiency

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Disease relevance of Platelet Storage Pool Deficiency


High impact information on Platelet Storage Pool Deficiency


Chemical compound and disease context of Platelet Storage Pool Deficiency


Biological context of Platelet Storage Pool Deficiency


Anatomical context of Platelet Storage Pool Deficiency


Gene context of Platelet Storage Pool Deficiency


  1. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Anikster, Y., Huizing, M., White, J., Shevchenko, Y.O., Fitzpatrick, D.L., Touchman, J.W., Compton, J.G., Bale, S.J., Swank, R.T., Gahl, W.A., Toro, J.R. Nat. Genet. (2001) [Pubmed]
  2. Platelet adhesion and thrombus formation on subendothelium in platelets deficient in glycoproteins IIb-IIIa, Ib, and storage granules. Weiss, H.J., Turitto, V.T., Baumgartner, H.R. Blood (1986) [Pubmed]
  3. Abnormalities of epinephrine-induced platelet aggregation and adenine nucleotides in myeloproliferative disorders. Yamamoto, K., Sekiguchi, E., Takatani, O. Thromb. Haemost. (1984) [Pubmed]
  4. Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking. Huizing, M., Anikster, Y., Gahl, W.A. Thromb. Haemost. (2001) [Pubmed]
  5. The rat Ruby ( R) locus is Rab38: identical mutations in Fawn-hooded and Tester-Moriyama rats derived from an ancestral Long Evans rat sub-strain. Oiso, N., Riddle, S.R., Serikawa, T., Kuramoto, T., Spritz, R.A. Mamm. Genome (2004) [Pubmed]
  6. The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency. Huang, L., Kuo, Y.M., Gitschier, J. Nat. Genet. (1999) [Pubmed]
  7. Decreased content and surface expression of alpha-granule membrane protein GMP-140 in one of two types of platelet alpha delta storage pool deficiency. Lages, B., Shattil, S.J., Bainton, D.F., Weiss, H.J. J. Clin. Invest. (1991) [Pubmed]
  8. Platelet prothrombinase activity and intracellular calcium responses in patients with storage pool deficiency, glycoprotein IIb-IIIa deficiency, or impaired platelet coagulant activity--a comparison with Scott syndrome. Weiss, H.J., Lages, B. Blood (1997) [Pubmed]
  9. Inherited thrombocytopenia caused by reduced platelet production in mice with the gunmetal pigment gene mutation. Novak, E.K., Reddington, M., Zhen, L., Stenberg, P.E., Jackson, C.W., McGarry, M.P., Swank, R.T. Blood (1995) [Pubmed]
  10. Quantification of a novel dense granule protein (granulophysin) in platelets of patients with dense granule storage pool deficiency. Shalev, A., Michaud, G., Israels, S.J., McNicol, A., Singhroy, S., McMillan, E.M., White, J.G., Witkop, C.J., Nichols, W.L., Greenberg, A.H. Blood (1992) [Pubmed]
  11. Platelet secretion defect in patients with the attention deficit disorder and easy bruising. Koike, K., Rao, A.K., Holmsen, H., Mueller, P.S. Blood (1984) [Pubmed]
  12. The response of platelets to epinephrine in storage pool deficiency--evidence pertaining to the role of adenosine diphosphate in mediating primary and secondary aggregation. Weiss, H.J., Lages, B. Blood (1988) [Pubmed]
  13. Platelet malondialdehyde production and aggregation responses induced by arachidonate, prostaglandin-G2, collagen, and epinephrine in 12 patients with storage pool deficiency. Weiss, H.J., Lages, B. Blood (1981) [Pubmed]
  14. Thrombin and ionophore A23187-induced dense granule secretion in storage pool deficient platelets: evidence for impaired nucleotide storage as the primary dense granule defect. Lages, B., Holmsen, H., Weiss, H.J., Dangelmaier, C. Blood (1983) [Pubmed]
  15. Progenitor cell defect correctable by bone marrow transplantation in five independent mouse models of platelet storage pool deficiency. McGarry, M.P., Novak, E.K., Swank, R.T. Exp. Hematol. (1986) [Pubmed]
  16. Molecular markers near two mouse chromosome 13 genes, muted and pearl, which cause platelet storage pool deficiency (SPD). O'Brien, E.P., Novak, E.K., Zhen, L., Manly, K.F., Stephenson, D., Swank, R.T. Mamm. Genome (1995) [Pubmed]
  17. Use of the electron microscope for diagnosis of platelet disorders. White, J.G. Semin. Thromb. Hemost. (1998) [Pubmed]
  18. Management of uremic bleeding. Couch, P., Stumpf, J.L. Clinical pharmacy. (1990) [Pubmed]
  19. Golgi complexes in hypogranular platelet syndromes. White, J.G. Platelets (2005) [Pubmed]
  20. Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. Hermos, C.R., Huizing, M., Kaiser-Kupfer, M.I., Gahl, W.A. Hum. Mutat. (2002) [Pubmed]
  21. Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis. Bachli, E.B., Brack, T., Eppler, E., Stallmach, T., Trüeb, R.M., Huizing, M., Gahl, W.A. Am. J. Med. Genet. A (2004) [Pubmed]
  22. Familial mutations of the transcription factor RUNX1 (AML1, CBFA2) predispose to acute myeloid leukemia. Ganly, P., Walker, L.C., Morris, C.M. Leuk. Lymphoma (2004) [Pubmed]
  23. Genetic and phenotypic analysis of the mouse mutant mh2J, an Ap3d allele caused by IAP element insertion. Kantheti, P., Diaz, M.E., Peden, A.E., Seong, E.E., Dolan, D.F., Robinson, M.S., Noebels, J.L., Burmeister, M.L. Mamm. Genome (2003) [Pubmed]
  24. Heterogeneity in storage pool deficiency: studies on granule-bound substances in 18 patients including variants deficient in alpha-granules, platelet factor 4, beta-thromboglobulin, and platelet-derived growth factor. Weiss, H.J., Witte, L.D., Kaplan, K.L., Lages, B.A., Chernoff, A., Nossel, H.L., Goodman, D.S., Baumgartner, H.R. Blood (1979) [Pubmed]
  25. Mechanisms of abnormal platelet aggregation in systemic lupus erythematosus. Dorsch, C.A., Meyerhoff, J. Arthritis Rheum. (1982) [Pubmed]
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