6 documents found, page 1 of 1
Perceções de pais sobre o uso do Facebook pelos filhos de 4-5 anos
Brito, Rita; Cruz, E.Com este trabalho pretendeu-se compreender e caraterizar as perceções de pais sobre usos e apropriações do Facebook por parte de crianças de 4 e 5 anos, previamente inquiridas numa investigação anterior. Tendo em conta uma metodologia de caráter qualitativo e exploratório, foi aplicado um questionário, de tipo aberto, a trinta e seis pais. Os resultados revelam que os pais concebem que os seus filhos utilizam t...
Lymphocyte gene expression signatures from patients and mouse models of heredit...
Costa, M.; Cruz, E.; Oliveira, S.; Benes, Vl.; Ivacevic, T.; Silva, M.; Vieira, I.; Dias, F.; Fonseca, S.; Gonçalves, M.; Lima, M.; Leitão, C.Abnormally low CD8+ T-lymphocyte numbers is characteristic of some patients with hereditary hemochromatosis (HH), a MHC-linked disorder of iron overload. Both environmental and genetic components are known to influence CD8+ T-lymphocyte homeostasis but the role of the HH associated protein HFE is still insufficiently understood. Genome-wide expression profiling was performed in peripheral blood CD8+ T lymphocyt...
Effects of highly conserved major histocompatibility complex (MHC) extended hap...
Costa, M.; Cruz, E.; Barton, J.; Thorstensen, K.; Morais, S.; da Silva, B.; Pinto, J.; Vieira, C.; Vieira, J.; Acton, R.; Porto, G.Hereditary Hemochromatosis (HH) is a recessively inherited disorder of iron overload occurring commonly in subjects homozygous for the C282Y mutation in HFE gene localized on chromosome 6p21.3 in linkage disequilibrium with the human leukocyte antigen (HLA)-A locus. Although its genetic homogeneity, the phenotypic expression is variable suggesting the presence of modifying factors. One such genetic factor, a SN...
A new 500 kb haplotype associated with high CD8+ T-lymphocyte numbers predicts ...
Cruz, E.; Whittington, C.; Krikler, S.; Mascarenhas, C.; Lacerda, R.; Vieira, J.; Porto, G.Abstract BACKGROUND: Hereditary Hemochromatosis(HH) is a common genetic disorder of iron overload where the large majority of patients are homozygous for one ancestral mutation in the HFE gene. In spite of this remarkable genetic homogeneity, the condition is clinically heterogeneous, varying from a severe disease to an asymptomatic phenotype with only abnormal biochemical parameters. The recent recognition of ...
A study of 82 extended HLA haplotypes in HFE-C282Y homozygous hemochromatosis s...
Cruz, E.; Vieira, J.; Almeida, S.; Lacerda, R.; Gartner, A.; Cardoso, C.; Alves, H.; Porto, G.Abstract BACKGROUND: It has been recently demonstrated that CD8+ T-lymphocyte numbers are genetically transmitted in association with the MHC class I region. The present study was designed with the objective of narrowing the region associated with the setting of CD8+ T-lymphocyte numbers in a population of C282Y homozygous hemochromatosis subjects, in whom a high prevalence of abnormally low CD8+ T-lymphocyte c...
Co-selection of the H63D mutation and the HLA-A29 allele: a new paradigm of lin...
Cardoso, C.; Alves, H.; Mascaranhas, M.; Gonçalves, R.; Oliveira, P.; Rodrigues, P.; Cruz, E.; Sousa, M.; Porto, G.The major histocompatibility complex (MHC) shows a remarkable conservation of particular HLA antigens and haplotypes in linkage disequilibrium in most human populations, suggesting the existence of a convergent evolution. A recent example of such conservation is the association of particular HLA haplotypes with the HFE mutations. With the objective of exploring the significance of that association, the present ...