The Molecular Basis of Platelet Disorders

Author(s):  
Joel S. Bennett
1999 ◽  
Vol 82 (08) ◽  
pp. 468-480 ◽  
Author(s):  
Alan Nurden

IntroductionGenetic defects of platelets give rise to bleeding syndromes of varying severity. Affected areas of platelet function include the glycoprotein (GP) effectors of adhesion and aggregation, primary receptors for agonists, signaling pathways where messages are transmitted to targets elsewhere in the membrane or within the platelet, dense- and α-granule secretion, ATP production, and the expression of procoagulant activity. Glanzmann thrombasthenia (GT) and Bernard-Soulier syndrome (BSS) are the best-characterized platelet diseases and will have a major place in this review. GT is caused by abnormalities of platelet membrane GP IIb-IIIa (integrin αIIbβ3), resulting in absent platelet aggregation. BSS is caused by abnormalities of the GP Ib-IX-V complex, resulting in a loss of platelet adherence to vessel wall subendothelium. The disorders affecting platelet morphology, which give rise to the so-called giant platelet syndromes, are also considered.Studies on platelet disorders are significant because the knowledge gained has provided a better understanding of the molecular basis of primary hemostasis and has helped in the development of new drugs for use in antithrombotic therapy. In 1987, this author gave the inaugural State-of-the-Art lecture at an International Society of Thrombosis and Haemostasis meeting.1 At that time, the application of molecular biology procedures to the study of platelet disorders was just beginning. Now, 12 years later, some of these data will be reviewed and the recent advances discussed.


Hematology ◽  
2005 ◽  
Vol 2005 (1) ◽  
pp. 396-402 ◽  
Author(s):  
Robert I. Handin

Abstract The inherited platelet disorders are a heterogeneous collection of rare diseases that are infrequently encountered in clinical practice. They are, however, fascinating abnormalities, which have taught us a great deal about normal platelet biochemistry and physiology. In this section of the presentation we will review disorders of the platelet membrane, platelet granule packaging disorders, the hereditary macrothrombocytopenias, platelet signaling disorders and disorders of platelet coagulant function. The molecular basis of the disorders, the cardinal features of their clinical presentation and best methods to make their diagnosis and the latest information regarding therapy will be presented.


Author(s):  
Ben O. Spurlock ◽  
Milton J. Cormier

The phenomenon of bioluminescence has fascinated layman and scientist alike for many centuries. During the eighteenth and nineteenth centuries a number of observations were reported on the physiology of bioluminescence in Renilla, the common sea pansy. More recently biochemists have directed their attention to the molecular basis of luminosity in this colonial form. These studies have centered primarily on defining the chemical basis for bioluminescence and its control. It is now established that bioluminescence in Renilla arises due to the luciferase-catalyzed oxidation of luciferin. This results in the creation of a product (oxyluciferin) in an electronic excited state. The transition of oxyluciferin from its excited state to the ground state leads to light emission.


Author(s):  
Darcy B. Kelley ◽  
Martha L. Tobias ◽  
Mark Ellisman

Brain and muscle are sexually differentiated tissues in which masculinization is controlled by the secretion of androgens from the testes. Sensitivity to androgen is conferred by the expression of an intracellular protein, the androgen receptor. A central problem of sexual differentiation is thus to understand the cellular and molecular basis of androgen action. We do not understand how hormone occupancy of a receptor translates into an alteration in the developmental program of the target cell. Our studies on sexual differentiation of brain and muscle in Xenopus laevis are designed to explore the molecular basis of androgen induced sexual differentiation by examining how this hormone controls the masculinization of brain and muscle targets.Our approach to this problem has focused on a highly androgen sensitive, sexually dimorphic neuromuscular system: laryngeal muscles and motor neurons of the clawed frog, Xenopus laevis. We have been studying sex differences at a synapse, the laryngeal neuromuscular junction, which mediates sexually dimorphic vocal behavior in Xenopus laevis frogs.


1998 ◽  
Vol 33 ◽  
pp. 65-77 ◽  
Author(s):  
Dominique Massotte ◽  
Brigitte L. Kieffer
Keyword(s):  

2011 ◽  
Vol 81 (4) ◽  
pp. 238-239 ◽  
Author(s):  
Manfred Eggersdorfer ◽  
Paul Walter

Nutrition is important for human health in all stages of life - from conception to old age. Today we know much more about the molecular basis of nutrition. Most importantly, we have learnt that micronutrients, among other factors, interact with genes, and new science is increasingly providing more tools to clarify this interrelation between health and nutrition. Sufficient intake of vitamins is essential to achieve maximum health benefit. It is well established that in developing countries, millions of people still suffer from micronutrient deficiencies. However, it is far less recognized that we face micronutrient insufficiencies also in developed countries.


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