998 resultados para Heredity, Human
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Mode of access: Internet.
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We have developed a computational strategy to identify the set of soluble proteins secreted into the extracellular environment of a cell. Within the protein sequences predominantly derived from the RIKEN representative transcript and protein set, we identified 2033 unique soluble proteins that are potentially secreted from the cell. These proteins contain a signal peptide required for entry into the secretory pathway and lack any transmembrane domains or intracellular localization signals. This class of proteins, which we have termed the mouse secretome, included >500 novel proteins and 92 proteins
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Obesity is an increasingly serious health problem, and is highly associated with insulin-resistance and dyslipidemia. The mechanisms involved in the development of this disorder are still poorly understood, although significant progress has been recently made in the elucidation of their molecular basis. The major causes leading to obesity are defects in the regulation of fat metabolism. Several mutations identified in different animal models have unveiled the roles of a number of genes in the regulation of energy balance. These dicoveries, together with the fact that some of these mutations have been found in humans, have lead to the conclusion that obesity is due to nutritional or environmental factors, but also involves genetic factors. A number of important peripheric factors participate in the regulation processes, such as the adipocyte-specific hormone leptin, and the nuclear homone receptors PPARs. A general scheme can now be drawn which includes some key factors and their respective interactions.
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This study dealt with approximately 2,000 children and their parents living in a hyperendemic goiter area in Central Brazil, which is bounded by the jungle to the north and by a large plain to the south. The determination of goiter was made according to the methods and classification adopted by WHO. Conspicuous forms of goiter were found in 41% of the children examined. Multiple linear regression analysis showed an increase with age in the frequency of goiter in both sexes. Although data from the literature show that Mulattoes and Negroes have statistically higher frequencies of goiter than do Whites, our multiple linear regression analysis revealed no evidence for an effect of race on the endemism. There was no significant association with socioeconomic level. The presence of goiter in parents was shown to be statistically associated with its occurrence in the children.
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The lysogenic capacity of human macrophages facing M. leprae in vitro may be dependent on an important genetic component. Although the familial aggregation of the trait is demonstrated, this is a necessary but not sufficient condition to prove genetic influence. The data do not fit some simple genetic models (autosomal dominant or incompletely dominant gene; dominant or recessive sex-linked gene). The results obtained are consistent with the hypothesis that the macrophages' lysogenic capacity is mainly due to a major gene with variable expressivity. This hypothesis may be too simple to account for the whole variability detected and therefore must be considered a working hypothesis.
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It is well known that radiation causes mutation, and that mutations are generally deleterious. They can lead to disease, malformation and death. It is further known that we live in a radioactive world. The air, the soil, the water, the food, all are somewhat radioactive. Natural radiation is not uniformly distributed throughout the earth's crust. There are some areas, especially in Brazil and India, where the levels of background radiation are several times higher than generally obtains. We have undertaken a specially prepared house-to-house genetic-epidemiologic, retrospective survey in a large Brazilian area with levels of natural radiation ranging from 7 (normal) to 133 (high) micro-roentgens per hour. In all, 24 different localities were surveyed during a period of 10 months by a trained team of nurses and social assistants. Our total sample consists of more than 8,000 couples who have had almost 44,000 pregnancy terminations. Our results do not disprove that natural radiation is one of the causes of socalled spontaneous mutations. They only show that, under the conditions of this study, no detectable effect on abortion was found. Our results also attest to the importance of extraneous variables in the analysis of morbidity and mortality data.