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In most patients with familial hypercholesterolemia (FH) the disorder is caused by a mutation in the gene coding for the low density lipoprotein receptor (LDL-R) (1). The variety of different defects observed in receptor function at the cellular level reflects mutations in different doma ...

Clinical molecular genetics has only recently become recognizable as a diagnostic discipline in its own right—gradually becoming distinct from its academic-and research-based origins. This chapter seeks to give some shape and context to the contrtbutions that follow and add to prev ...

Molecular genetic diagnosis is a relatively young discipline and also one of the fastest growing among clinical laboratory sciences. The majority of diagnostic laboratories in this field emerged from groups active in research into human genetic disease, and the development of a servic ...

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are allelic disorders caused by mutations in the dystrophin gene. The molecular genetic analysis of these disorders is among the most difficult encountered in a routine diagnostic laboratory. The analysis is made d ...

The molecular diagnosis of a genetic disease can be made by demonstrating linkage of suitable markers to the disease allele. However, it is generally agreed that it is better to define the mutation responsible. There is a plethora of techniques available for the detection of mutations within ge ...

Unstable trinucleotide repeats are a newly recognized class of disease mutation. Several major human single gene disorders are now attributed to expansions of these highly unstable sequences (1–4). Their molecular analysis is particularly challenging, since:

Cystic fibrosis (CF) is the most common lethal autosomal recessive disorder in Whites, with an incidence of approx 1 m 2500 live births and a carrier frequency of approx 1 in 25. Since the discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene m 1989 (1–3), molecular genet ...

Congenital adrenal hyperplasia (CAH) is an inherited disorder of steroidogenesis with a wide spectrum of expression. In about 95% of cases, the disease is the result of 21-hydroxylase deficiency, an autosomal recessive condition that maps to the major histocompatibility complex (MHC) ...

Molecular cardiology is a new area of cardiovascular medicine that aims to apply molecular biological techniques for the mechanistic investigation, diag nosis, prevention, and treatment of cardiovascular disease. As an emerging discipline, it has changed our conceptual thinki ...

There are repeated ischemic events and nonischemic intervals in the heart affected by coronary artery disease. In the current study, we designed a hypoxia-inducible double plasmid system. By using a hypoxia response element, this system can be switched on by low oxygen but turned off by normal o ...

The potential of enhanced cardiovascular function via gene therapy has aroused extensive interest. Both viral and nonviral vectors have shown prom ise in the realm of cardiovascular gene therapy. Modification of vectors or addition of further transgenes to the expression cassette has ...

Osteoclasts are large multinucleate bone cells with the capacity to degrade bone by the process of bone resorption and, thus, participate in the homeostasis of bone and calcium in the body (1). Imaging of osteoclasts can be performed by a variety of microscopy methods including light microscop ...

The organic matrix of bone is a well-organized network of proteins. The main constituent is type I collagen. The noncollagenous proteins (NCPs) comprise about 10% of the total bone protein content. A variety of NCPs has been identified, including osteocalcin, osteopontin, osteonectin, bone ...

Immunohistochemistry can provide valuable information regarding protein expression in different cell types at specific stages of differentiation during bone modeling and remodeling. By combining immunohistochemistry with other techniques, it is possible for the resea ...

Gene expression in bone can be assessed by several techniques such as reverse transcription polymerase chain reaction (RT-PCR), differential display PCR, subtractive hybridization, and microchip arrays. The problem with all of these techniques is that they do not allow cellular loca ...

The history of culturing bone explants goes back to the early 1920s, when Robinson reported that the enzyme alkaline phosphatase played an important role in bone mineralization based on studies of chick bone fragments. Subsequently, Reynolds used bone explants to study collagen synthe ...

Mouse calvarial organ cultures have been used for many years to study the basic mechanisms by which osteoclastic bone resorption is regulated. The most obvious advantage of organ cultures over in vivo studies is the absence of confounding factors such as hormonal and mechanical influences. ...

Osteoclasts derive from macrophage colony-stimulating factor (M-CSF)-dependent hemopoietic precursors that develop into cells that express the αvβ3 subunit of the vitronectin receptor (VNR) and the calcitonin receptor (CTR). The extracellular degradative process, known ...

Osteoclasts are large multinucleated cells that are uniquely specialized for the function of lacunar bone resorption. For much of the previous century osteoclasts were thought to share a common progenitor cell with osteoblasts, bone-forming cells. Osteoclast formation occurri ...

Bone is a dynamic tissue that is continually remodeled throughout life. Such remodeling is carried out by the coordinated actions of two bone cell types: bone-resorbing osteoclasts (OCs) which are uniquely capable of dissolving and removing a small volume of bone, and bone-forming osteobl ...