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A wide range of genetic models with postponed aging are now available, from selected mice and Drosophila to mutant Caenorhabditis elegans and Saccharomyces cerevisiae . These systems allow efficient testing of alternative mechanistic hypotheses for aging. Genetic analysis is forging stronger...
A casual association has been established between mutations in the fibrillin 1 gene and Marfan syndrome and related phenotypes. Analysis of mutations in these disease types has provided new insights into microfibril assembly and function. These include evidence for a mutation in a fibrillin 1...
The identification of large numbers of candidate genes and the introduction of methodologies for whole-genome screening have provided new opportunities for elucidating the molecular basis of variable susceptibility to major infectious diseases. 12 genes have been implicated in variable...
The past year has seen significant advances in our understanding of ion channel disorders. The highlights of these advances include a detailed delineation of the molecular mechanisms underlying inherited cardiac arrhythmias and the discovery that ion channel mutations can contribute to neural...
The past few years have seen a marked increase in the demand for practical methods of mutation detection. Over this period of time, both the development of new methods and improvements in existing methods have made mutation detection in the research setting a less cumbersome task. Nevertheless,...
The recent explosion in the number of identified genes involved in the human skeletal dysplasias has dramatically advanced this particular field. While linkage efforts are mapping hereditary disorders of the skeleton at an ever accelerating pace, progress in the Human Genome Project is providing...
Mutations affecting several predominantly tissue-specific transcriptional regulators have recently been associated with disease phenotypes. Although the mutational spectrum is variable, many of the reported cases involve clear loss-of-function mutations—such as Waardenburg syndrome type 1,...
Osteoporosis is a major health problem in virtually all societies where its incidence and impact have been studied in terms of cost, morbidity, mortality and quality of life. The major determinant of fracture risk is bone density and, presumably, bone strength. A large number of lifestyle...
In the past, twins have been studied to determine the genetic contribution to various disease processes. Recent work, however, suggests that monozygotic (MZ) twins are not truly identical. Many genetic forms of discordance have been described within MZ twin pairs and may even play a role in...
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