Wilson S Disease
Mostrando 13-24 de 38 artigos, teses e dissertações.
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13. Correlação clinicopatológica na doença de Alzheimer em casuística de autópsia no Brasil
Resumo Os modelos de estadiamento neuropatológico da doença de Alzheimer (DA) têm sido desenvolvidos nos últimos 20 anos. Entretanto, têm sido quase exclusivamente testados em caucasianos de ascendência norte-européia ou em asiáticos. Objetivos: verificar quais dos critérios neuropatológicos discrimina melhor entre a DA e o envelhecimento normal em
Dement. neuropsychol.. Publicado em: 2007-12
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14. Paleopathology and osteobiography of the people of Peñuelas, Chile's semiarid north
The Museo de La Serena, IV Region, Chile has collections of skeletal remains representing the agricultural Diaguita people of 500 years ago excavated in the 1980s from the sites Peñuelas 21 and 24, Chile's semiarid north. Their excellent preservation has permitted an osteobiographical and radiographic analysis to better understand the patterns of the diseas
Memórias do Instituto Oswaldo Cruz. Publicado em: 2006-12
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15. Métodos de preparação e atividade biológica do ácido quinolínico e derivados
In 1981 2,3-pyridine dicarboxylic acid (quinolinic acid) was discovery to be a selective agonist for the N-methyl -D-aspartic acid (NMDA) receptor. As a consequence it possesses neurotoxic activity resulting from overstimulation of the receptor. Quinolinic acid is implicated as an etiological factor in a range of neurodegenerative disease including AIDS rela
Química Nova. Publicado em: 2003-10
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16. Estudo da prevalencia da doença periodontal utilizando os indices "CPITN" e W.S FOP-UNICAMP
Several periodontal indexes were created aiming the diagnosis of periodontal lesions. The CPITN (Community Periodontal Index of Need of Treatment) index was very used in 80 decade and early 90s. However, several works are discussing recently its realibility. The W.S. FOP-UNICAMP (Wilson Sallum Faculty of Dentistry of Piracicaba-UNICAMP) index has been used f
Publicado em: 1998
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17. Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysis.
Wilson's disease, a rare autosomal recessive disorder, has been recently mapped to the long arm of chromosome 13 (q14.1). In this study, we carried out linkage analysis between three chromosome 13 DNA markers, D13S1, D13S10, D13S2, the locus for the red cell enzyme esterase D (ESD), and the Wilson's disease locus (WND) in 17 Wilson's disease families of Ital
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18. Materials and Clothing in Health and Disease
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19. Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation
Wilson disease is an autosomal recessive disorder of hepatic copper metabolism caused by mutations in a gene encoding a copper-transporting P-type ATPase. To elucidate the function of the Wilson protein, wild-type and mutant Wilson cDNAs were expressed in a Menkes copper transporter-deficient mottled fibroblast cell line defective in copper export. Expressio
The National Academy of Sciences.
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20. Interaction of the copper chaperone HAH1 with the Wilson disease protein is essential for copper homeostasis
The delivery of copper to specific sites within the cell is mediated by distinct intracellular carrier proteins termed copper chaperones. Previous studies in Saccharomyces cerevisiae suggested that the human copper chaperone HAH1 may play a role in copper trafficking to the secretory pathway of the cell. In this current study, HAH1 was detected in lysates fr
The National Academy of Sciences.
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21. Neutron activation analysis for copper in biological material applied to Wilson's disease
A method for the neutron activation analysis of copper in biological material is described and applied to the diagnosis and management of four cases of Wilson's disease. Results obtained for serum and urine are in agreement with values obtained by established colorimetric techniques. The method described can estimate 10−9 g. copper to within 10% and this s
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22. THE RÔLE OF TRAUMA IN THE ETIOLOGY OF ORGANIC AND FUNCTIONAL NERVOUS DISEASE*
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23. Comparison of methods to identify individuals at increased risk of coronary disease from the general population
Objectives To evaluate the guidelines on measurement of cholesterol in the national service framework for coronary heart disease and to compare alternative strategies for identifying people at high risk of coronary disease in the general population.
BMJ Publishing Group Ltd..
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24. The Menkes/Wilson disease gene homologue in yeast provides copper to a ceruloplasmin-like oxidase required for iron uptake.
The CCC2 gene of the yeast Saccharomyces cerevisiae is homologous to the human genes defective in Wilson disease and Menkes disease. A biochemical hallmark of these diseases is a deficiency of copper in ceruloplasmin and other copper proteins found in extracytosolic compartments. Here we demonstrate that disruption of the yeast CCC2 gene results in defects i