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People tend to see genetics as raising uniquely sensitive ethical issues. Whether that view is right or wrong, it does mean that as working geneticists we have to be specially sensitive to the ethical implications of our work. Although we all subscribe to general principles of ethical conduct, somet ...
Craniofacial malformations affecting head and face are a primary cause of infant mortality and can result in severe functional, aesthetical, and social consequences for affected individuals and their families. Anomalies include ossification defects of facial and cranial bones, jaw deformities, malfo ...
Recent studies have indicated that humans have an exceptionally high per-generation mutation rate of 7.6 x 10-9 to 2.2 x 10-8. These spontaneous germline mutations can have serious phenotypic consequences when affecting functionally relevant bases in the genome. In fact, their occurrence may explain ...
A growing number of human diseases are associated with the expansion of simple sequence repeats within the transcribed region of the gene (1-3). In most cases the expansion is of a trinucleotide repeat, often, CAG or CGG, but some disease are associated with the expansion of tetranucleotide (4), pen ...
The recent study of different connective tissue diseases and their homologous mouse models have dramatically altered our understanding of their pathogenesis. A major breakthrough was realized with the study of mouse model of Marfan syndrome (MFS). The study of emphysema development in a fibrillin-1 ...
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