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The fibroblast-populated collagen lattice (FPCL) was intended to act as the dermal component for “skin-equivalent” or artificial skin developed for skin grafting burn patients. The “skin-equivalent” was clinically unsuccessful as a skin graft, but today it is successfully used as a dre ...

Anti-M�llerian hormone (AMH) has long been associated with sexual differentiation in the fetus where in the male it suppresses the development of the female reproductive tracts. More recently it has been shown to be secreted in low concentrations by the granulosa cells of the adult and related to ...

Arginine vasopressin (AVP) is a peptide hormone synthesised in the hypothalamus and secreted from nerve terminals within the posterior pituitary gland. Secretion is primarily under osmoregulatory control and levels rise in plasma in response to a body water deficit and are suppressed ...

The growth hormone/insulin-like growth factor (GH/IGF) axis is widely investigated in disorders of growth, development, and anterior pituitary function. Methods are described for three hormones in this axis (growth hormone, IGF-I, and IGF binding protein-3). Enzyme-linked immuno ...

In the clinical laboratory, the reproductive hormones are probably the second most commonly measured hormones after the thyroid hormones. More than 300 laboratories participate in the UK National External Quality Control Scheme. In addition, investigations into reproduction a ...

Mass spectrometry methods have the potential to measure different hormones during the same analysis and have improved specificity and a wide analytical range compared with many immunoassay methods. Increasingly in clinical laboratories liquid chromatography-tandem mass s ...

Gas chromatography-mass spectrometry (GC-MS) is a technique of pivotal importance for the analysis of hormones in biological fluids. In consequence, it has gained relevance in clinical and endocrinological laboratories, providing reference analytical methods. This chapter ...

Huge changes have occurred in the measurement of hormones over the last 50 years or so. Methods have become simplified, sensitivity has increased manyfold, and automation has allowed the analysis of large number of specimens in a single day. The most significant steps in the history of hormone mea ...

External quality assessment schemes (EQAS) provide an important means of monitoring the quality of the performance of immunoassays in the field. Set up by external bodies and complementing internal quality control procedures, they enable ongoing comparison of individual labora ...

Internal quality control (IQC) is a valuable technique to ensure that the results produced from any assay are reliable and reproducible. Here I describe how to set up an IQC program for a new clinical assay based on IQC samples. The principles described here are applicable to assays for any biological ...

There are many different methods to choose for vitamin D analysis. While immunoassays are available commercially and readily automated, specificity for 25-hydroxyvitamin D2 and D3 is variable. Chemical assays such as HPLC and LC-MS/MS have greater specificity and are capable of detect ...

A number of androgens are measured for clinical purposes. Most laboratories will run a testosterone assay but the requirement for other androgens may be too small for a laboratory to set up their own assay. In these cases samples would be sent to a specialized laboratory. In the routine laboratory te ...

Dentatorubral-pallidoluysian atrophy (DRPLA) is one form of trinucleotide repeat disease, which has a high prevalence rate in the Japanese population. Our group established DRPLA transgenic mice harboring a single copy of a full-length human mutant DRPLA gene with 76 CAG repeats (Q76 m ...

Transcription and splicing of human genes are regulated by nucleotide sequences encoded across large segments of our genome, and trinucleotide repeat expansion mutations can have both profound and subtle effects on these processes. In the course of our work to understand the impact of the S ...

Myotonic dystrophy type 1 results from an unstable expanded CTG repeat ((CTG) n ) in the 3′ UTR of the DMPK gene. Transgenic mouse models have been developed to reproduce the (CTG) n instability seen in DM1 patients. These transgenic mice provide an excellent tool to study the disease mechanism as well as the ...

Antibodies can be extremely useful tools for the field of triplet repeats diseases. These reagents are important for localizing proteins in tissues and they can be used in the isolation and characterization of the components of protein complexes. In the context of huntingtin (Htt), antibod ...

Many trinucleotide repeat disorders exhibit region-specific toxicity within tissues, the basis of which cannot be explained by traditional methods. For example, in Huntington’s Disease (HD), the toxic disease-causing protein is ubiquitously expressed. However, only the medium ...

Ataxin-1 protein expression is found in the cytoplasm and nucleus of Purkinje cells, the primary site of spinocerebellar ataxia type 1 (SCA1). Phosphorylation at S776 occurs in the cytoplasm and stabilizes the protein through interaction with 14-3-3, allowing it to translocate into the nu ...

Huntington’s disease (HD) is a hereditary neurodegenerative disorder, characterized by motor, psychiatric, and cognitive symptoms. The genetic defect responsible for the onset of the disease, expansion of CAG repeats in exon 1 of the gene that codes for huntingtin, has been unambiguous ...

The fragile X syndrome (FXS), the most common cause of heritable intellectual disability, is caused by expansion of a CGG repeat located at the 5′ UTR of the FMR1 gene and subsequent epigenetic modifications of its promoter. Epigenetic modifications include both methylation of the cytosines ...