Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular disorder caused by mutations in the dystrophin gene at Xp21. Approximately two-thirds of the mutations are intragenic deletions of one or more of the 79 exons that constitute the 2.4 Mb dystrophin gene, 5 % are duplicati ...

Psychiatric genetics is a relatively new term for an old research question: “Are behavioral and psychological conditions and deviations inherited?” The systematic empirical inquiries in this field started in the late nineteenth century with the work of F. Galton and his monograph Talent ...

The development of gene-mapping methodology has not been a linear process. Instead, this development has been multidimensional, culminating in the creation of a powerful and heterogeneous collection of tools. A description of the history of the development of this would include words s ...

Are the strategies for the identification of susceptibility genes in psychiatric diseases the same as those that have been used to successfully identify genes in monogenic diseases? How many cases, families, and markers are needed? These methodological questions are still a matter of deb ...

Ten years ago, Tsuang et al. (1) stated that “psychiatric genetics had reached a point where the sophistication of available experimental tools such as molecular genetics technologies and statistical procedures has surpassed the ability to describe relevant phenotypes.” Indeed, the ...

Candidate gene association studies in psychiatric disorders have suffered from difficulties in replication. One strategy for overcoming this difficulty is a focus on endophenotypes. If most psychiatric disorders are polygenic and are caused by numerous genes—each contribut ...

The rationale for the use of an endophenotype in genetic studies of psychiatric disorders is that these disorders are likely to be multi-determined, with multiple environmental and genetic origins, so that a discrete biological phenotype is more likely to reflect a single major gene effect. ...

When a completed draft emerged from The Human Genome Project in 2001 (1), the most ambitious biological enterprise ever undertaken yielded a prize of almost inestimable value: A map of the basepair (bp) sequence of the nearly 6-foot strand of DNA found in almost all of the body’s 100 trillion cells (2–4). As ...

Although a plethora of information exists on the role of the endothelial cell (EC) in vascular hemostasis and tissue homeostasis, little is known of the role played by the microvascular pericyte (PC) (Fig. 1). This lack of substantial information is most evident in the understanding of the role pla ...

The blood-brain barrier (BBB) is formed by the micro vasculature of the brain (1). The permeability properties, per se, of the BBB are regulated by the capillary endothelial cell (2). However, there are at least four different cells that comprise the brain microvasculature (Fig. 1), and all contribu ...

The application of the suppressive subtraction hybridization (SSH) technique to blood-brain barrier (BBB) genomics has accelerated the discovery and identification of BBB-specific genes in humans and in experimental animals (1–3). This procedure allows for the development of g ...

Cell culture techniques provide a useful tool to study the physiological functions that any given cell type provides to the host organ. Isolation and culturing techniques have developed dramatically in the past decades and an increasing number of cellular factors have been discovered, w ...

The development of efficient ways to deliver large molecules such as peptides, proteins, and nucleic acids across the blood-brain barrier (BBB) is crucial to future therapeutic strategies for treatment of central nervous system (CNS) disorders. The principal approach to deliver macr ...

There continue to be many new technical developments that propel advances in our understanding of biological events taking place at the cellular and molecular level. One method that developed early in the expansion of cell and molecular biology and still remains a valuable tool and major core ...

In situ hybridization (ISH) has become a critical tool for studying gene expression in the central nervous system (CNS) (1–6). ISH has advantages over immunohisto-chemistry, because ISH identifies the cells that make the antigen of interest, rather than just contain it. ISH has been used to asse ...

Immunohistochemistry is a widely used research technique in blood-brain barrier (BBB) research being used for the cellular localization of proteins of interest in normal vessels and documentation of altered expression following disease states, for the identification of cultu ...

The first complete deoxyribonucleic acid (DNA) sequence of an organism was published in 1977 (1), marking a starting point for what is today called genomics. In the meantime, there was a rapid development in scientific equipment and data processing capabilities, which led to a strong accelera ...

Manipulation of genes in the mouse genome to produce transgenic or gene-targeted animals represents a powerful experimental tool to study the role of specific gene products in complex physiological systems. Because of the power of studying genetically altered mice, many laboratori ...

Over the past decades, transgenic mice have become a valuable tool in investigating gene expression, regulation, and function. Mouse models have been established for various human diseases to determine gene expression patterns and to elucidate gene function in tissues and organ syste ...

The ability to alter the mouse genome through homologous recombination in their embryonic stem (ES) cells, and propagate the modification through their germ-line, has revolutionized biomedical research. Such gene-targeted mice have afforded researchers unprecedented oppo ...