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In recent years, our increased understanding of the complex signal transduction mechanisms that regulate cellular function has fueled huge advances in all aspects of biomedical science and cell biology. Platelet and megakaryocyte function is no exception to this. In the last 10 yr our und ...

Kinases carry out the reversible phosphorylation of proteins and lipids, and are responsible for direct or indirect control of almost every signaling pathway in cells, leading to responses such as proliferation, differentiation, metabolism, transport, and gene expression. It is es ...

Although pharmacology may be strictly viewed as the study of drugs (see, for example, the British Pharmacological Society Web site at http://www.bps.ac.uk/BPS.html), for many of us it also involves the use of drugs to study receptors. Indeed, the fundamental principle behind a pharmacologic ...

Platelets, the smallest cellular components of blood, are critically involved at each step of the hemostatic response, from the initial sealing of damaged endothelium to supporting coagulation reactions, and finally, in the retraction of the fibrin clot that enhances fibrinolysis a ...

The process of megakaryocyte generation in the bone marrow and subsequent differentiation leading to platelet production is little understood. Known as megakaryo-poiesis, it involves a number of unique biological features, including an increase in the nuclear DNA content (endor ...

Although the body of knowledge is far from complete, much has been learned about the receptors that enable circulating platelets to become activated at sites of vascular injury. A variety of approaches have been used to acquire this information, many of which are described elsewhere in this book. ...

Cardiovascular traits represent the quintessential complex trait derived from the confluence of numerous genetic and environmental risk factors. Therefore, positional cloning of cardiovascular genes contributing to the common forms of cardiovascular disease is much more ...

Myocardial infarction (MI) is characterized by abrupt occlusion of coronary artery resulting in irreversible damage to cardiac muscle. This disease might result from the interactions of multiple genetic and environmental factors, none of which can cause disease solely by themsel ...

Many biological traits and heritable diseases are multifactorial, involving combinations of genetic variants and environmental factors. To dissect the genetic basis for these traits and to characterize their functional consequences, mouse models are widely used, not only beca ...

Single-nucleotide polymorphisms (SNPs) are DNA sequence variations that occur at a single base in the genome sequence. SNPs are valuable markers for identifying genes responsible for susceptibility to common diseases, and in some cases, they are the causes of human diseases. A genetic stu ...

Within the field of molecular cardiac electrophysiology, the previous decade of research elucidated the fundamental genetic substrate underlying many arrhythmogenic disorders such as long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia ( ...

Currently, there is a critical need to develop high-throughput, low-cost, and accurate methods for genotyping of single-nucleotide polymorphisms (SNPs). The matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectrometrically based techni ...

Numerical and structural chromosomal rearrangements, such as aneuploidies, deletions, duplications, and other aberrations have been associated with congenital abnormalities, pregnancy loss, and malignancy. Detection of these genetic changes is possible by cytogenet ...

Many human diseases are associated with cytogenetic abnormalities or chromosomal disorders including translocations, deletions, duplications, inversions, and other complicated chromosomal changes. Fluorescence in situ hybridization (FISH), a technique involvi ...

Chromosomal abnormalities often result in the improper dosage of genes in a particular chromosome or chromosome segment, which may cause specific and complex clinical phenotypes. Comparative genomic hybridization by microarray (array CGH) is a high-throughput and high-resol ...

Somatic cell hybrids are generated by fusion of two different parental cells. This technology has been used extensively in the production of monoclonal antibodies and has made significant contributions to the field of human genetics through its applications in gene expression, gene ma ...

A complex disease trait refers to a phenotype that does not follow simple Mendelian segregation attributable to a single gene locus, but instead may be caused by multiple disease loci, their interactions, polygenic inheritance, and environmental effects. Most cardiovascular disor ...

Identification of the genes for a human disease provides significant insights into the molecular mechanism underlying the pathogenesis of the disease. A human disease gene can be identified by its chromosomal location (positional cloning). Linkage analysis is a key step in positional ...

Disorders of the cardiovascular system are often caused by the interaction of genetic and environmental factors that jointly contribute to individual susceptibility. Genomic data and bioinformatics tools generated from genome projects, coupled with functional verificat ...

Variance component linkage analysis has become one of the most popular tools for the analysis of polygenic phenotypes. In particular for cardiovascular disease, such as coronary artery disease and myocardial infarction, variance component analysis holds some unique advantages. ...